Incidental Mutation 'FR4449:Igsf10'
ID |
511457 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igsf10
|
Ensembl Gene |
ENSMUSG00000036334 |
Gene Name |
immunoglobulin superfamily, member 10 |
Synonyms |
6530405F15Rik, CMF608, Adlican2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
FR4449 ()
|
Quality Score |
221.999 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
59224156-59251815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59226531 bp (GRCm39)
|
Zygosity |
Homozygous |
Amino Acid Change |
Arginine to Cysteine
at position 2381
(R2381C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141391
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039419]
[ENSMUST00000040325]
[ENSMUST00000164225]
[ENSMUST00000193455]
[ENSMUST00000194546]
[ENSMUST00000199659]
|
AlphaFold |
Q3V1M1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039419
AA Change: R2381C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037246 Gene: ENSMUSG00000036334 AA Change: R2381C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
LRRNT
|
28 |
61 |
3.24e-4 |
SMART |
LRR
|
57 |
79 |
9.24e1 |
SMART |
LRR
|
80 |
103 |
2.02e-1 |
SMART |
LRR
|
104 |
127 |
7.16e0 |
SMART |
LRR_TYP
|
128 |
151 |
1.2e-3 |
SMART |
LRR
|
152 |
175 |
1.25e-1 |
SMART |
LRR
|
188 |
207 |
2.33e2 |
SMART |
LRRCT
|
219 |
280 |
4.19e-4 |
SMART |
IGc2
|
488 |
558 |
2.34e-4 |
SMART |
IGc2
|
586 |
652 |
7.88e-11 |
SMART |
low complexity region
|
917 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1175 |
1185 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1263 |
N/A |
INTRINSIC |
low complexity region
|
1311 |
1321 |
N/A |
INTRINSIC |
low complexity region
|
1449 |
1465 |
N/A |
INTRINSIC |
IGc2
|
1632 |
1701 |
7.69e-14 |
SMART |
IGc2
|
1729 |
1798 |
5.07e-14 |
SMART |
IGc2
|
1826 |
1895 |
2.19e-9 |
SMART |
IGc2
|
1925 |
1994 |
4.59e-12 |
SMART |
IGc2
|
2022 |
2097 |
1.33e-8 |
SMART |
IGc2
|
2125 |
2191 |
2.96e-15 |
SMART |
IGc2
|
2223 |
2291 |
2.03e-4 |
SMART |
IGc2
|
2321 |
2389 |
9.99e-13 |
SMART |
IGc2
|
2416 |
2484 |
3.03e-12 |
SMART |
IGc2
|
2512 |
2583 |
7.76e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000040325
|
SMART Domains |
Protein: ENSMUSP00000042269 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
161 |
1.71e-24 |
SMART |
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
282 |
730 |
2.6e-207 |
PFAM |
low complexity region
|
744 |
758 |
N/A |
INTRINSIC |
low complexity region
|
853 |
872 |
N/A |
INTRINSIC |
low complexity region
|
1455 |
1466 |
N/A |
INTRINSIC |
low complexity region
|
1728 |
1742 |
N/A |
INTRINSIC |
low complexity region
|
1769 |
1783 |
N/A |
INTRINSIC |
Pfam:Med12-PQL
|
1803 |
2029 |
2.3e-14 |
PFAM |
low complexity region
|
2055 |
2076 |
N/A |
INTRINSIC |
low complexity region
|
2083 |
2101 |
N/A |
INTRINSIC |
low complexity region
|
2116 |
2136 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164225
|
SMART Domains |
Protein: ENSMUSP00000127038 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
161 |
1.71e-24 |
SMART |
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
283 |
765 |
5e-187 |
PFAM |
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
low complexity region
|
888 |
907 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1501 |
N/A |
INTRINSIC |
low complexity region
|
1763 |
1777 |
N/A |
INTRINSIC |
low complexity region
|
1804 |
1818 |
N/A |
INTRINSIC |
Pfam:Med12-PQL
|
1840 |
2063 |
9.7e-66 |
PFAM |
low complexity region
|
2090 |
2111 |
N/A |
INTRINSIC |
low complexity region
|
2118 |
2136 |
N/A |
INTRINSIC |
low complexity region
|
2151 |
2171 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193455
AA Change: R2381C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141971 Gene: ENSMUSG00000036334 AA Change: R2381C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
LRRNT
|
28 |
61 |
3.24e-4 |
SMART |
LRR
|
57 |
79 |
9.24e1 |
SMART |
LRR
|
80 |
103 |
2.02e-1 |
SMART |
LRR
|
104 |
127 |
7.16e0 |
SMART |
LRR_TYP
|
128 |
151 |
1.2e-3 |
SMART |
LRR
|
152 |
175 |
1.25e-1 |
SMART |
LRR
|
188 |
207 |
2.33e2 |
SMART |
LRRCT
|
219 |
280 |
4.19e-4 |
SMART |
IGc2
|
488 |
558 |
2.34e-4 |
SMART |
IGc2
|
586 |
652 |
7.88e-11 |
SMART |
low complexity region
|
917 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1175 |
1185 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1263 |
N/A |
INTRINSIC |
low complexity region
|
1311 |
1321 |
N/A |
INTRINSIC |
low complexity region
|
1449 |
1465 |
N/A |
INTRINSIC |
IGc2
|
1632 |
1701 |
7.69e-14 |
SMART |
IGc2
|
1729 |
1798 |
5.07e-14 |
SMART |
IGc2
|
1826 |
1895 |
2.19e-9 |
SMART |
IGc2
|
1925 |
1994 |
4.59e-12 |
SMART |
IGc2
|
2022 |
2097 |
1.33e-8 |
SMART |
IGc2
|
2125 |
2191 |
2.96e-15 |
SMART |
IGc2
|
2223 |
2291 |
2.03e-4 |
SMART |
IGc2
|
2321 |
2389 |
9.99e-13 |
SMART |
IGc2
|
2416 |
2484 |
3.03e-12 |
SMART |
IGc2
|
2512 |
2583 |
7.76e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194546
AA Change: R2381C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141391 Gene: ENSMUSG00000036334 AA Change: R2381C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
LRRNT
|
28 |
61 |
3.24e-4 |
SMART |
LRR
|
57 |
79 |
9.24e1 |
SMART |
LRR
|
80 |
103 |
2.02e-1 |
SMART |
LRR
|
104 |
127 |
7.16e0 |
SMART |
LRR_TYP
|
128 |
151 |
1.2e-3 |
SMART |
LRR
|
152 |
175 |
1.25e-1 |
SMART |
LRR
|
188 |
207 |
2.33e2 |
SMART |
LRRCT
|
219 |
280 |
4.19e-4 |
SMART |
IGc2
|
488 |
558 |
2.34e-4 |
SMART |
IGc2
|
586 |
652 |
7.88e-11 |
SMART |
low complexity region
|
917 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1175 |
1185 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1263 |
N/A |
INTRINSIC |
low complexity region
|
1311 |
1321 |
N/A |
INTRINSIC |
low complexity region
|
1449 |
1465 |
N/A |
INTRINSIC |
IGc2
|
1632 |
1701 |
7.69e-14 |
SMART |
IGc2
|
1729 |
1798 |
5.07e-14 |
SMART |
IGc2
|
1826 |
1895 |
2.19e-9 |
SMART |
IGc2
|
1925 |
1994 |
4.59e-12 |
SMART |
IGc2
|
2022 |
2097 |
1.33e-8 |
SMART |
IGc2
|
2125 |
2191 |
2.96e-15 |
SMART |
IGc2
|
2223 |
2291 |
2.03e-4 |
SMART |
IGc2
|
2321 |
2389 |
9.99e-13 |
SMART |
IGc2
|
2416 |
2484 |
3.03e-12 |
SMART |
IGc2
|
2512 |
2583 |
7.76e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197374
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199659
|
SMART Domains |
Protein: ENSMUSP00000142903 Gene: ENSMUSG00000056476
Domain | Start | End | E-Value | Type |
Med12
|
101 |
161 |
1.71e-24 |
SMART |
low complexity region
|
216 |
224 |
N/A |
INTRINSIC |
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
Pfam:Med12-LCEWAV
|
282 |
765 |
5.5e-209 |
PFAM |
low complexity region
|
779 |
793 |
N/A |
INTRINSIC |
low complexity region
|
888 |
907 |
N/A |
INTRINSIC |
low complexity region
|
1490 |
1501 |
N/A |
INTRINSIC |
low complexity region
|
1761 |
1775 |
N/A |
INTRINSIC |
low complexity region
|
1802 |
1816 |
N/A |
INTRINSIC |
Pfam:Med12-PQL
|
1836 |
2062 |
1.7e-15 |
PFAM |
low complexity region
|
2088 |
2130 |
N/A |
INTRINSIC |
low complexity region
|
2144 |
2164 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 98.3%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 128 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
GGTATTGCATTTCTTATCT |
G |
5: 4,031,214 (GRCm39) |
|
probably benign |
Homo |
Amfr |
C |
G |
8: 94,731,787 (GRCm39) |
G30R |
probably damaging |
Homo |
Anxa7 |
C |
T |
14: 20,519,479 (GRCm39) |
G113E |
probably damaging |
Homo |
Apc |
AGC |
AGCCAATAACGC |
18: 34,415,058 (GRCm39) |
|
probably benign |
Het |
Apc |
AATAAAGC |
AATAAAGCCGATAAAGC |
18: 34,415,053 (GRCm39) |
|
probably benign |
Het |
Apol6 |
TTT |
TTTGATT |
15: 76,935,643 (GRCm39) |
|
probably null |
Homo |
Arid1b |
CGG |
CGGTGG |
17: 5,045,864 (GRCm39) |
|
probably benign |
Het |
B430218F22Rik |
CGGCG |
CGGCGATGGCG |
13: 118,523,387 (GRCm39) |
|
probably benign |
Homo |
Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,656 (GRCm39) |
|
probably benign |
Het |
Brd2 |
CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
CAAAAAAAAAAAAAAA |
17: 34,335,310 (GRCm39) |
|
probably benign |
Het |
Btnl10 |
AAG |
AAGGAG |
11: 58,814,754 (GRCm39) |
|
probably benign |
Homo |
Cacna1a |
ACC |
ACCCCC |
8: 85,365,343 (GRCm39) |
|
probably benign |
Het |
Cacna1a |
ACC |
ACCGCC |
8: 85,365,352 (GRCm39) |
|
probably benign |
Het |
Cacna1a |
ACC |
ACCCCC |
8: 85,365,349 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
TGGC |
TGGCTGTGGCTGCGGC |
19: 47,129,713 (GRCm39) |
|
probably benign |
Het |
Ccdc15 |
C |
CTTTAT |
9: 37,226,454 (GRCm39) |
|
probably null |
Het |
Ccdc85c |
CCG |
CCGACG |
12: 108,240,875 (GRCm39) |
|
probably benign |
Het |
Ccnk |
TTCCCAC |
T |
12: 108,168,766 (GRCm39) |
|
probably benign |
Het |
Cdhr2 |
AGTC |
AGTCGTC |
13: 54,873,737 (GRCm39) |
|
probably benign |
Homo |
Cdk15 |
A |
ATCTAAAAGG |
1: 59,296,982 (GRCm39) |
|
probably benign |
Homo |
Cdx1 |
GCTG |
GCTGCTCCTG |
18: 61,152,953 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,218,711 (GRCm39) |
|
probably benign |
Homo |
Cgref1 |
TTC |
TTCGTC |
5: 31,091,120 (GRCm39) |
|
probably benign |
Het |
Cgref1 |
CTT |
CTTATT |
5: 31,091,122 (GRCm39) |
|
probably null |
Homo |
Cluh |
G |
GACTGAA |
11: 74,560,358 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
AGCCCC |
AGCCCCCGCCCC |
11: 101,080,395 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
AGCC |
AGCCCCCGCC |
11: 101,080,419 (GRCm39) |
|
probably benign |
Het |
Cpne1 |
CCTACT |
CCT |
2: 155,915,422 (GRCm39) |
|
probably benign |
Homo |
Cracdl |
T |
A |
1: 37,664,116 (GRCm39) |
E594V |
probably benign |
Homo |
Cracdl |
C |
A |
1: 37,664,117 (GRCm39) |
E594* |
probably null |
Homo |
Cttnbp2 |
CTGCTG |
CTGCTGTTGCTG |
6: 18,367,461 (GRCm39) |
|
probably benign |
Het |
Cul9 |
TCC |
TCCGCC |
17: 46,811,782 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
AGGAGG |
AGGAGGCGGAGG |
9: 99,465,739 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GGAGGA |
GGAGGAAGAGGA |
9: 99,465,749 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
AGGAGG |
AGGAGGGGGAGG |
9: 99,465,727 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
CG |
CGAGACAG |
11: 101,629,020 (GRCm39) |
|
probably benign |
Homo |
Dhx8 |
CG |
CGAGACAG |
11: 101,629,032 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
G |
GAGACCC |
11: 101,629,033 (GRCm39) |
|
probably benign |
Het |
Dhx8 |
AGACCG |
AGACCGTGACCG |
11: 101,629,010 (GRCm39) |
|
probably benign |
Homo |
Dhx8 |
AGACCGGGACCGGGACCGGGACCGGGAC |
AGACCGGGACCGGGAC |
11: 101,629,016 (GRCm39) |
|
probably benign |
Het |
Dspp |
CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG |
CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG |
5: 104,326,254 (GRCm39) |
|
probably benign |
Het |
Dusp10 |
G |
T |
1: 183,769,253 (GRCm39) |
C73F |
probably damaging |
Homo |
Erich3 |
GA |
GAGAA |
3: 154,469,150 (GRCm39) |
|
probably benign |
Homo |
Ermn |
CTT |
CTTGTT |
2: 57,938,086 (GRCm39) |
|
probably benign |
Het |
Fgd6 |
GGAT |
G |
10: 93,880,182 (GRCm39) |
|
probably benign |
Homo |
G530012D18Rik |
GAGAGAGAGAGAGAGAGACAGAGA |
GAGAGA |
1: 85,504,901 (GRCm39) |
|
probably benign |
Homo |
Gar1 |
GCCGCCTCCGCC |
GCCGCC |
3: 129,624,353 (GRCm39) |
|
probably benign |
Homo |
Gatad2b |
AGAC |
A |
3: 90,249,224 (GRCm39) |
|
probably benign |
Het |
Gigyf2 |
C |
T |
1: 87,356,307 (GRCm39) |
|
probably benign |
Het |
Gm16519 |
A |
AGAT |
17: 71,236,333 (GRCm39) |
|
probably benign |
Homo |
Gm4340 |
AGC |
AGCGGC |
10: 104,031,946 (GRCm39) |
|
probably benign |
Het |
Gm4340 |
GCA |
GCATCA |
10: 104,031,947 (GRCm39) |
|
probably benign |
Het |
Gm4340 |
AGC |
AGCGGC |
10: 104,031,943 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
AGGAAG |
AGGAAGCGGAAG |
17: 79,149,597 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
GAAGAG |
GAAGAGCAAGAG |
17: 79,149,605 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
GG |
GGCAGACG |
17: 79,149,610 (GRCm39) |
|
probably benign |
Het |
Hoxa10 |
T |
A |
6: 52,211,166 (GRCm39) |
Q250L |
possibly damaging |
Homo |
Igkv12-89 |
GCA |
GCAGCAGCAACA |
6: 68,812,264 (GRCm39) |
|
probably benign |
Homo |
Il17rd |
GGC |
GGCAGC |
14: 26,804,635 (GRCm39) |
|
probably benign |
Het |
Ints5 |
G |
A |
19: 8,874,594 (GRCm39) |
R851Q |
probably benign |
Het |
Isg20l2 |
AGA |
AGAGGA |
3: 87,839,020 (GRCm39) |
|
probably benign |
Het |
Kcng4 |
G |
T |
8: 120,360,258 (GRCm39) |
Y39* |
probably null |
Homo |
Kifc5b |
A |
C |
17: 27,143,191 (GRCm39) |
E321A |
probably benign |
Het |
Klra2 |
TCCACAG |
TCCACAGAAACCCACAG |
6: 131,198,809 (GRCm39) |
|
probably null |
Homo |
Kmt2b |
TCCTCC |
TCCTCCCCCTCC |
7: 30,285,794 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
CCTCCT |
CCTCCTGCTCCT |
7: 30,285,786 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
TCCTCC |
TCCTCCACCTCC |
7: 30,285,791 (GRCm39) |
|
probably benign |
Het |
Krt10 |
ACC |
ACCACCTCC |
11: 99,280,093 (GRCm39) |
|
probably benign |
Het |
Las1l |
GA |
GAGAA |
X: 94,984,438 (GRCm39) |
|
probably benign |
Het |
Lce1m |
AC |
ACTGCTGCTGCCGC |
3: 92,925,459 (GRCm39) |
|
probably benign |
Het |
Leo1 |
GTACCATGCA |
G |
9: 75,357,855 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
CA |
CATCTCCAGCTCTA |
2: 181,339,364 (GRCm39) |
|
probably benign |
Het |
Maml2 |
ACAGCAGCAGCAACAGCAGCAGCAGCAGCA |
ACAGCAACAGCAGCAGCAGCAGCA |
9: 13,532,752 (GRCm39) |
|
probably benign |
Homo |
Med12l |
CAG |
CAGTAG |
3: 59,183,384 (GRCm39) |
|
probably null |
Het |
Mgat4e |
GTCGTAGTCATCGT |
GTCGT |
1: 134,468,735 (GRCm39) |
|
probably benign |
Homo |
Mn1 |
GCA |
GCAACA |
5: 111,567,576 (GRCm39) |
|
probably benign |
Het |
Morn4 |
AGGCAGTGAG |
AGGCAGTGAGTCTGGCAGTGAG |
19: 42,064,548 (GRCm39) |
|
probably benign |
Het |
Nat8f2 |
T |
A |
6: 85,844,668 (GRCm39) |
L231F |
possibly damaging |
Homo |
Noc2l |
C |
CTGA |
4: 156,324,558 (GRCm39) |
|
probably benign |
Het |
Nrg3 |
T |
TAGACAC |
14: 38,119,228 (GRCm39) |
|
probably benign |
Het |
Or8b41 |
A |
G |
9: 38,054,484 (GRCm39) |
I13V |
probably benign |
Homo |
Piezo1 |
G |
A |
8: 123,222,308 (GRCm39) |
R503W |
probably damaging |
Homo |
Pih1d2 |
CTCTTGCGAGGATC |
CTC |
9: 50,532,927 (GRCm39) |
|
probably null |
Homo |
Pik3ap1 |
G |
GGAA |
19: 41,270,385 (GRCm39) |
|
probably benign |
Het |
Ppp1r3f |
C |
A |
X: 7,426,575 (GRCm39) |
G562V |
probably damaging |
Homo |
Ptms |
TTC |
TTCGTC |
6: 124,891,422 (GRCm39) |
|
probably benign |
Het |
Ptpn23 |
G |
T |
9: 110,216,701 (GRCm39) |
P1052T |
probably benign |
Homo |
Qrich2 |
AACT |
A |
11: 116,347,025 (GRCm39) |
|
probably benign |
Homo |
Raet1d |
A |
ATATCCTCTCTGG |
10: 22,246,814 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA |
AGCAGCAGCAGCA |
5: 28,599,166 (GRCm39) |
|
probably benign |
Homo |
Rrbp1 |
TGCTTCTCAAAGGTGGCTGCCTTGGCTTC |
TGCTTC |
2: 143,809,376 (GRCm39) |
|
probably null |
Het |
Sbp |
CAACAAAGATGCTGA |
CAACAAAGATGCTGAGAACAAAGATGCTGA |
17: 24,164,338 (GRCm39) |
|
probably benign |
Het |
Setd1a |
G |
A |
7: 127,384,498 (GRCm39) |
|
probably benign |
Het |
Sfswap |
CCCACTCAG |
CCCACTCAGTCCACTCAG |
5: 129,646,812 (GRCm39) |
|
probably benign |
Het |
Sfswap |
CCACTCAGC |
CCACTCAGCTCACTCAGC |
5: 129,646,813 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2b |
T |
TGTCTGC |
11: 32,373,065 (GRCm39) |
|
probably benign |
Homo |
Six3 |
CGG |
CGGGGG |
17: 85,928,790 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
C |
CTTTGGCCACAACACG |
2: 124,996,136 (GRCm39) |
|
probably benign |
Homo |
Slc26a8 |
CTCTCTG |
C |
17: 28,857,290 (GRCm39) |
|
probably benign |
Het |
Spata31h1 |
TTCAGT |
TT |
10: 82,121,303 (GRCm39) |
|
probably null |
Homo |
Srebf2 |
G |
T |
15: 82,069,536 (GRCm39) |
A693S |
probably damaging |
Homo |
Sry |
ACTG |
ACTGCTG |
Y: 2,662,818 (GRCm39) |
|
probably benign |
Het |
Sry |
TGCTG |
TGCTGCTG |
Y: 2,662,832 (GRCm39) |
|
probably benign |
Homo |
Ston1 |
G |
A |
17: 88,942,953 (GRCm39) |
V120M |
probably benign |
Homo |
Supt20 |
CAGCAG |
CAGCAGGAGCAG |
3: 54,635,070 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
TG |
TGTGG |
17: 24,921,518 (GRCm39) |
|
probably benign |
Homo |
Tctn3 |
AG |
AGAAGCCG |
19: 40,595,646 (GRCm39) |
|
probably benign |
Het |
Tesk1 |
CCC |
CCCACC |
4: 43,447,002 (GRCm39) |
|
probably benign |
Homo |
Tmc2 |
T |
G |
2: 130,082,116 (GRCm39) |
V433G |
probably damaging |
Het |
Tmprss13 |
G |
A |
9: 45,239,856 (GRCm39) |
A55T |
unknown |
Het |
Tnfaip8 |
ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,179,906 (GRCm39) |
|
probably null |
Homo |
Tob1 |
CAG |
CAGAAG |
11: 94,105,294 (GRCm39) |
|
probably benign |
Het |
Tob1 |
AGC |
AGCCGC |
11: 94,105,301 (GRCm39) |
|
probably benign |
Het |
Tpsab1 |
TTGCACCTCCT |
TT |
17: 25,562,756 (GRCm39) |
|
probably benign |
Homo |
Triobp |
GTC |
GTCTTC |
15: 78,877,589 (GRCm39) |
|
probably benign |
Het |
Ubtf |
CCT |
CCTACT |
11: 102,197,774 (GRCm39) |
|
probably null |
Het |
Vps13b |
G |
T |
15: 35,847,103 (GRCm39) |
A2629S |
probably damaging |
Homo |
Xpnpep3 |
G |
C |
15: 81,311,623 (GRCm39) |
D110H |
possibly damaging |
Het |
Zc3h13 |
CGAGATGTG |
CGAGATGTGTGAGATGTG |
14: 75,561,041 (GRCm39) |
|
probably null |
Homo |
Zfhx3 |
GCAACAGCA |
GCAACAGCAACAACAGCA |
8: 109,682,726 (GRCm39) |
|
probably benign |
Homo |
Zfp26 |
C |
A |
9: 20,349,842 (GRCm39) |
A241S |
probably benign |
Homo |
Zfp335 |
CTC |
CTCATC |
2: 164,749,397 (GRCm39) |
|
probably benign |
Het |
Zfp335 |
CTCT |
CTCTTCT |
2: 164,749,403 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
ACCACC |
ACCACCTCCACC |
17: 24,899,750 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
ACCACC |
ACCACCCCCACC |
17: 24,899,759 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
TCC |
TCCACC |
2: 174,487,264 (GRCm39) |
|
probably benign |
Het |
Zfp831 |
CTC |
CTCGTC |
2: 174,487,275 (GRCm39) |
|
probably benign |
Het |
Zfp978 |
G |
T |
4: 147,475,401 (GRCm39) |
S316I |
probably benign |
Het |
|
Other mutations in Igsf10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00773:Igsf10
|
APN |
3 |
59,238,960 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00790:Igsf10
|
APN |
3 |
59,226,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00916:Igsf10
|
APN |
3 |
59,238,548 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00928:Igsf10
|
APN |
3 |
59,238,018 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01066:Igsf10
|
APN |
3 |
59,235,203 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01107:Igsf10
|
APN |
3 |
59,238,945 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01420:Igsf10
|
APN |
3 |
59,227,071 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01533:Igsf10
|
APN |
3 |
59,226,651 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01537:Igsf10
|
APN |
3 |
59,237,452 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01676:Igsf10
|
APN |
3 |
59,236,756 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01676:Igsf10
|
APN |
3 |
59,233,432 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01960:Igsf10
|
APN |
3 |
59,226,158 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02123:Igsf10
|
APN |
3 |
59,226,081 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02198:Igsf10
|
APN |
3 |
59,233,399 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02268:Igsf10
|
APN |
3 |
59,238,573 (GRCm39) |
nonsense |
probably null |
|
IGL02313:Igsf10
|
APN |
3 |
59,238,111 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02368:Igsf10
|
APN |
3 |
59,235,652 (GRCm39) |
missense |
probably benign |
|
IGL02494:Igsf10
|
APN |
3 |
59,235,427 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02549:Igsf10
|
APN |
3 |
59,236,662 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02616:Igsf10
|
APN |
3 |
59,226,027 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02957:Igsf10
|
APN |
3 |
59,238,285 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03067:Igsf10
|
APN |
3 |
59,226,339 (GRCm39) |
missense |
probably benign |
0.25 |
IGL03104:Igsf10
|
APN |
3 |
59,226,905 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03124:Igsf10
|
APN |
3 |
59,227,086 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03212:Igsf10
|
APN |
3 |
59,235,586 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03347:Igsf10
|
APN |
3 |
59,239,321 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03357:Igsf10
|
APN |
3 |
59,243,632 (GRCm39) |
missense |
probably benign |
0.35 |
F6893:Igsf10
|
UTSW |
3 |
59,238,481 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT1430001:Igsf10
|
UTSW |
3 |
59,235,579 (GRCm39) |
missense |
probably benign |
0.06 |
PIT4402001:Igsf10
|
UTSW |
3 |
59,233,000 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4810001:Igsf10
|
UTSW |
3 |
59,225,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Igsf10
|
UTSW |
3 |
59,238,045 (GRCm39) |
missense |
probably damaging |
0.98 |
R0095:Igsf10
|
UTSW |
3 |
59,238,617 (GRCm39) |
nonsense |
probably null |
|
R0095:Igsf10
|
UTSW |
3 |
59,238,617 (GRCm39) |
nonsense |
probably null |
|
R0112:Igsf10
|
UTSW |
3 |
59,233,429 (GRCm39) |
missense |
probably benign |
0.00 |
R0141:Igsf10
|
UTSW |
3 |
59,238,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Igsf10
|
UTSW |
3 |
59,227,527 (GRCm39) |
missense |
probably damaging |
0.99 |
R0551:Igsf10
|
UTSW |
3 |
59,236,089 (GRCm39) |
missense |
probably benign |
0.01 |
R0556:Igsf10
|
UTSW |
3 |
59,236,296 (GRCm39) |
missense |
probably benign |
0.02 |
R0582:Igsf10
|
UTSW |
3 |
59,227,188 (GRCm39) |
missense |
probably benign |
0.00 |
R0630:Igsf10
|
UTSW |
3 |
59,233,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R0675:Igsf10
|
UTSW |
3 |
59,236,015 (GRCm39) |
missense |
probably benign |
0.14 |
R0948:Igsf10
|
UTSW |
3 |
59,238,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R1252:Igsf10
|
UTSW |
3 |
59,239,269 (GRCm39) |
missense |
probably benign |
0.03 |
R1412:Igsf10
|
UTSW |
3 |
59,235,196 (GRCm39) |
splice site |
probably benign |
|
R1473:Igsf10
|
UTSW |
3 |
59,226,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R1585:Igsf10
|
UTSW |
3 |
59,237,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R1650:Igsf10
|
UTSW |
3 |
59,233,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R1660:Igsf10
|
UTSW |
3 |
59,238,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R1671:Igsf10
|
UTSW |
3 |
59,235,921 (GRCm39) |
nonsense |
probably null |
|
R1748:Igsf10
|
UTSW |
3 |
59,226,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R1758:Igsf10
|
UTSW |
3 |
59,236,617 (GRCm39) |
missense |
probably benign |
0.09 |
R1856:Igsf10
|
UTSW |
3 |
59,238,693 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1912:Igsf10
|
UTSW |
3 |
59,236,993 (GRCm39) |
missense |
probably benign |
0.40 |
R2148:Igsf10
|
UTSW |
3 |
59,243,998 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2155:Igsf10
|
UTSW |
3 |
59,239,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Igsf10
|
UTSW |
3 |
59,239,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R2511:Igsf10
|
UTSW |
3 |
59,239,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R2680:Igsf10
|
UTSW |
3 |
59,232,875 (GRCm39) |
missense |
probably benign |
0.14 |
R2913:Igsf10
|
UTSW |
3 |
59,239,157 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2927:Igsf10
|
UTSW |
3 |
59,236,848 (GRCm39) |
missense |
probably benign |
|
R3547:Igsf10
|
UTSW |
3 |
59,243,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R3547:Igsf10
|
UTSW |
3 |
59,237,962 (GRCm39) |
missense |
probably benign |
0.02 |
R3548:Igsf10
|
UTSW |
3 |
59,243,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R3620:Igsf10
|
UTSW |
3 |
59,243,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Igsf10
|
UTSW |
3 |
59,233,135 (GRCm39) |
missense |
probably benign |
0.29 |
R3743:Igsf10
|
UTSW |
3 |
59,233,546 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3973:Igsf10
|
UTSW |
3 |
59,239,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R4005:Igsf10
|
UTSW |
3 |
59,235,981 (GRCm39) |
missense |
probably benign |
0.00 |
R4184:Igsf10
|
UTSW |
3 |
59,227,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R4302:Igsf10
|
UTSW |
3 |
59,226,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R4404:Igsf10
|
UTSW |
3 |
59,236,972 (GRCm39) |
missense |
probably benign |
0.04 |
R4575:Igsf10
|
UTSW |
3 |
59,237,521 (GRCm39) |
missense |
probably benign |
|
R4676:Igsf10
|
UTSW |
3 |
59,233,370 (GRCm39) |
missense |
probably benign |
0.23 |
R4700:Igsf10
|
UTSW |
3 |
59,227,751 (GRCm39) |
missense |
probably damaging |
0.99 |
R4765:Igsf10
|
UTSW |
3 |
59,237,126 (GRCm39) |
missense |
probably benign |
0.01 |
R4986:Igsf10
|
UTSW |
3 |
59,236,027 (GRCm39) |
missense |
probably benign |
0.24 |
R5012:Igsf10
|
UTSW |
3 |
59,226,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R5070:Igsf10
|
UTSW |
3 |
59,235,714 (GRCm39) |
missense |
probably benign |
0.02 |
R5083:Igsf10
|
UTSW |
3 |
59,233,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R5336:Igsf10
|
UTSW |
3 |
59,227,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R5462:Igsf10
|
UTSW |
3 |
59,233,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R5648:Igsf10
|
UTSW |
3 |
59,235,574 (GRCm39) |
missense |
probably benign |
0.01 |
R5810:Igsf10
|
UTSW |
3 |
59,226,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R5871:Igsf10
|
UTSW |
3 |
59,237,832 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5880:Igsf10
|
UTSW |
3 |
59,238,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R5935:Igsf10
|
UTSW |
3 |
59,235,578 (GRCm39) |
missense |
probably benign |
0.12 |
R5979:Igsf10
|
UTSW |
3 |
59,243,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R6145:Igsf10
|
UTSW |
3 |
59,239,077 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6222:Igsf10
|
UTSW |
3 |
59,226,336 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6224:Igsf10
|
UTSW |
3 |
59,232,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R6264:Igsf10
|
UTSW |
3 |
59,235,928 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6283:Igsf10
|
UTSW |
3 |
59,226,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R6336:Igsf10
|
UTSW |
3 |
59,237,760 (GRCm39) |
missense |
probably benign |
0.00 |
R6490:Igsf10
|
UTSW |
3 |
59,236,992 (GRCm39) |
missense |
probably benign |
0.06 |
R6785:Igsf10
|
UTSW |
3 |
59,226,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R6873:Igsf10
|
UTSW |
3 |
59,235,865 (GRCm39) |
missense |
probably benign |
|
R6889:Igsf10
|
UTSW |
3 |
59,239,354 (GRCm39) |
missense |
probably benign |
|
R7024:Igsf10
|
UTSW |
3 |
59,239,122 (GRCm39) |
missense |
probably benign |
0.00 |
R7056:Igsf10
|
UTSW |
3 |
59,238,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R7128:Igsf10
|
UTSW |
3 |
59,236,326 (GRCm39) |
missense |
probably benign |
|
R7251:Igsf10
|
UTSW |
3 |
59,226,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7313:Igsf10
|
UTSW |
3 |
59,236,837 (GRCm39) |
missense |
probably benign |
0.05 |
R7340:Igsf10
|
UTSW |
3 |
59,233,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Igsf10
|
UTSW |
3 |
59,239,222 (GRCm39) |
missense |
probably benign |
0.39 |
R7506:Igsf10
|
UTSW |
3 |
59,226,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R7678:Igsf10
|
UTSW |
3 |
59,226,761 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7695:Igsf10
|
UTSW |
3 |
59,233,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R7709:Igsf10
|
UTSW |
3 |
59,238,964 (GRCm39) |
missense |
probably damaging |
0.96 |
R7749:Igsf10
|
UTSW |
3 |
59,236,549 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7808:Igsf10
|
UTSW |
3 |
59,235,489 (GRCm39) |
missense |
probably benign |
0.00 |
R7850:Igsf10
|
UTSW |
3 |
59,227,053 (GRCm39) |
missense |
probably benign |
0.33 |
R7879:Igsf10
|
UTSW |
3 |
59,238,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R7886:Igsf10
|
UTSW |
3 |
59,235,748 (GRCm39) |
missense |
probably benign |
0.01 |
R7891:Igsf10
|
UTSW |
3 |
59,235,832 (GRCm39) |
nonsense |
probably null |
|
R7946:Igsf10
|
UTSW |
3 |
59,227,125 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7948:Igsf10
|
UTSW |
3 |
59,239,279 (GRCm39) |
missense |
probably benign |
0.02 |
R8004:Igsf10
|
UTSW |
3 |
59,237,130 (GRCm39) |
missense |
probably benign |
0.01 |
R8096:Igsf10
|
UTSW |
3 |
59,236,380 (GRCm39) |
missense |
probably damaging |
0.98 |
R8141:Igsf10
|
UTSW |
3 |
59,237,949 (GRCm39) |
missense |
probably damaging |
0.96 |
R8183:Igsf10
|
UTSW |
3 |
59,238,036 (GRCm39) |
missense |
probably benign |
0.04 |
R8203:Igsf10
|
UTSW |
3 |
59,236,254 (GRCm39) |
missense |
probably benign |
0.11 |
R8325:Igsf10
|
UTSW |
3 |
59,225,954 (GRCm39) |
missense |
probably damaging |
0.96 |
R8350:Igsf10
|
UTSW |
3 |
59,238,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R8387:Igsf10
|
UTSW |
3 |
59,236,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R8488:Igsf10
|
UTSW |
3 |
59,227,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R8697:Igsf10
|
UTSW |
3 |
59,226,308 (GRCm39) |
missense |
probably benign |
0.02 |
R8786:Igsf10
|
UTSW |
3 |
59,238,063 (GRCm39) |
missense |
probably benign |
0.25 |
R8804:Igsf10
|
UTSW |
3 |
59,243,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R8886:Igsf10
|
UTSW |
3 |
59,237,410 (GRCm39) |
missense |
probably benign |
0.00 |
R8902:Igsf10
|
UTSW |
3 |
59,243,633 (GRCm39) |
missense |
probably benign |
0.00 |
R8906:Igsf10
|
UTSW |
3 |
59,233,739 (GRCm39) |
missense |
probably benign |
0.01 |
R8917:Igsf10
|
UTSW |
3 |
59,226,888 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9051:Igsf10
|
UTSW |
3 |
59,236,668 (GRCm39) |
missense |
probably benign |
0.00 |
R9178:Igsf10
|
UTSW |
3 |
59,233,480 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9228:Igsf10
|
UTSW |
3 |
59,243,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R9230:Igsf10
|
UTSW |
3 |
59,243,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Igsf10
|
UTSW |
3 |
59,243,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R9232:Igsf10
|
UTSW |
3 |
59,243,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R9417:Igsf10
|
UTSW |
3 |
59,236,526 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9609:Igsf10
|
UTSW |
3 |
59,226,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R9631:Igsf10
|
UTSW |
3 |
59,237,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R9689:Igsf10
|
UTSW |
3 |
59,233,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R9762:Igsf10
|
UTSW |
3 |
59,237,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R9770:Igsf10
|
UTSW |
3 |
59,227,199 (GRCm39) |
missense |
probably benign |
0.07 |
R9798:Igsf10
|
UTSW |
3 |
59,239,126 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Igsf10
|
UTSW |
3 |
59,237,359 (GRCm39) |
missense |
possibly damaging |
0.59 |
Z1177:Igsf10
|
UTSW |
3 |
59,237,026 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGACTTGAGGTCTGTCGATTAC -3'
(R):5'- AAAAGTAGTTGCCCAGGTTGG -3'
Sequencing Primer
(F):5'- AGGTCTGTCGATTACAAGGCCAC -3'
(R):5'- AGGTTGGCAAGCCTGTAGC -3'
|
Posted On |
2018-04-05 |