Incidental Mutation 'R0101:Vsig10'
| ID |
33190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsig10
|
| Ensembl Gene |
ENSMUSG00000066894 |
| Gene Name |
V-set and immunoglobulin domain containing 10 |
| Synonyms |
|
| MMRRC Submission |
038387-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0101 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
117457331-117493071 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 117473134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086464]
[ENSMUST00000086464]
[ENSMUST00000086464]
[ENSMUST00000086464]
[ENSMUST00000111967]
[ENSMUST00000111967]
[ENSMUST00000111967]
[ENSMUST00000111967]
|
| AlphaFold |
D3YX43 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086464
|
| SMART Domains |
Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
IG
|
23 |
114 |
4.03e-8 |
SMART |
|
IG
|
132 |
214 |
9.49e-5 |
SMART |
|
Pfam:Ig_2
|
215 |
300 |
2.6e-2 |
PFAM |
|
Pfam:Ig_3
|
216 |
284 |
3.5e-4 |
PFAM |
|
IGc2
|
313 |
384 |
1.12e-6 |
SMART |
|
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
|
coiled coil region
|
446 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086464
|
| SMART Domains |
Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
IG
|
23 |
114 |
4.03e-8 |
SMART |
|
IG
|
132 |
214 |
9.49e-5 |
SMART |
|
Pfam:Ig_2
|
215 |
300 |
2.6e-2 |
PFAM |
|
Pfam:Ig_3
|
216 |
284 |
3.5e-4 |
PFAM |
|
IGc2
|
313 |
384 |
1.12e-6 |
SMART |
|
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
|
coiled coil region
|
446 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086464
|
| SMART Domains |
Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
IG
|
23 |
114 |
4.03e-8 |
SMART |
|
IG
|
132 |
214 |
9.49e-5 |
SMART |
|
Pfam:Ig_2
|
215 |
300 |
2.6e-2 |
PFAM |
|
Pfam:Ig_3
|
216 |
284 |
3.5e-4 |
PFAM |
|
IGc2
|
313 |
384 |
1.12e-6 |
SMART |
|
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
|
coiled coil region
|
446 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000086464
|
| SMART Domains |
Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
IG
|
23 |
114 |
4.03e-8 |
SMART |
|
IG
|
132 |
214 |
9.49e-5 |
SMART |
|
Pfam:Ig_2
|
215 |
300 |
2.6e-2 |
PFAM |
|
Pfam:Ig_3
|
216 |
284 |
3.5e-4 |
PFAM |
|
IGc2
|
313 |
384 |
1.12e-6 |
SMART |
|
transmembrane domain
|
403 |
425 |
N/A |
INTRINSIC |
|
coiled coil region
|
446 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111967
|
| SMART Domains |
Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
50 |
141 |
4.03e-8 |
SMART |
|
IG
|
159 |
241 |
9.49e-5 |
SMART |
|
Blast:IG_like
|
248 |
327 |
2e-33 |
BLAST |
|
IGc2
|
340 |
411 |
1.12e-6 |
SMART |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
473 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111967
|
| SMART Domains |
Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
50 |
141 |
4.03e-8 |
SMART |
|
IG
|
159 |
241 |
9.49e-5 |
SMART |
|
Blast:IG_like
|
248 |
327 |
2e-33 |
BLAST |
|
IGc2
|
340 |
411 |
1.12e-6 |
SMART |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
473 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111967
|
| SMART Domains |
Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
50 |
141 |
4.03e-8 |
SMART |
|
IG
|
159 |
241 |
9.49e-5 |
SMART |
|
Blast:IG_like
|
248 |
327 |
2e-33 |
BLAST |
|
IGc2
|
340 |
411 |
1.12e-6 |
SMART |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
473 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111967
|
| SMART Domains |
Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
IG
|
50 |
141 |
4.03e-8 |
SMART |
|
IG
|
159 |
241 |
9.49e-5 |
SMART |
|
Blast:IG_like
|
248 |
327 |
2e-33 |
BLAST |
|
IGc2
|
340 |
411 |
1.12e-6 |
SMART |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
473 |
508 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147182
|
| SMART Domains |
Protein: ENSMUSP00000125808
Gene: ENSMUSG00000066894
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG_like
|
1 |
41 |
3e-14 |
BLAST |
|
IGc2
|
54 |
125 |
1.12e-6 |
SMART |
|
transmembrane domain
|
144 |
166 |
N/A |
INTRINSIC |
|
coiled coil region
|
187 |
222 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9489 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
All alleles(11) : Gene trapped(11) |
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,901,739 (GRCm39) |
D829N |
probably benign |
Het |
| B3galnt1 |
A |
G |
3: 69,483,139 (GRCm39) |
Y41H |
probably benign |
Het |
| Carmil3 |
A |
C |
14: 55,735,212 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,771,341 (GRCm39) |
Q41R |
probably benign |
Het |
| Cep43 |
A |
T |
17: 8,388,374 (GRCm39) |
S76C |
possibly damaging |
Het |
| Chrm2 |
G |
T |
6: 36,501,430 (GRCm39) |
C429F |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,250,444 (GRCm39) |
C1844S |
probably benign |
Het |
| Cyld |
T |
A |
8: 89,444,928 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
C |
A |
15: 82,274,395 (GRCm39) |
|
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,005,856 (GRCm39) |
Y2308H |
probably damaging |
Het |
| Dnajc27 |
T |
C |
12: 4,139,142 (GRCm39) |
V60A |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,862,599 (GRCm39) |
V850A |
possibly damaging |
Het |
| Emcn |
A |
T |
3: 137,047,001 (GRCm39) |
M1L |
possibly damaging |
Het |
| Epc1 |
A |
T |
18: 6,462,998 (GRCm39) |
|
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,133,521 (GRCm39) |
L310P |
probably damaging |
Het |
| Filip1 |
A |
G |
9: 79,726,810 (GRCm39) |
I603T |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,512,957 (GRCm39) |
V723A |
probably damaging |
Het |
| Gemin5 |
G |
A |
11: 58,036,322 (GRCm39) |
P674S |
probably damaging |
Het |
| Gsk3a |
T |
C |
7: 24,928,328 (GRCm39) |
D471G |
probably benign |
Het |
| Igbp1b |
G |
A |
6: 138,634,658 (GRCm39) |
P262L |
probably damaging |
Het |
| Itga11 |
T |
C |
9: 62,651,768 (GRCm39) |
L300S |
probably damaging |
Het |
| Itsn2 |
T |
C |
12: 4,683,058 (GRCm39) |
|
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,072,598 (GRCm39) |
S150P |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,951,120 (GRCm39) |
M1V |
probably null |
Het |
| Mical2 |
C |
T |
7: 111,936,074 (GRCm39) |
R892C |
possibly damaging |
Het |
| Mtus2 |
T |
C |
5: 148,019,845 (GRCm39) |
S747P |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,861,206 (GRCm39) |
K1276E |
possibly damaging |
Het |
| Or1n1b |
A |
G |
2: 36,780,138 (GRCm39) |
S241P |
probably damaging |
Het |
| Pfkfb4 |
C |
G |
9: 108,839,711 (GRCm39) |
P260R |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,948,626 (GRCm39) |
L121Q |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,204,681 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,864,615 (GRCm39) |
M215T |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,070,769 (GRCm39) |
D213G |
possibly damaging |
Het |
| Rreb1 |
C |
A |
13: 38,115,518 (GRCm39) |
P959Q |
probably benign |
Het |
| Sema5b |
T |
C |
16: 35,483,472 (GRCm39) |
|
probably benign |
Het |
| Slc38a10 |
A |
G |
11: 120,041,903 (GRCm39) |
M1T |
probably null |
Het |
| Slco1c1 |
G |
T |
6: 141,477,236 (GRCm39) |
L11F |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,194 (GRCm39) |
T393A |
probably damaging |
Het |
| Srp54b |
A |
G |
12: 55,302,405 (GRCm39) |
|
probably benign |
Het |
| St14 |
G |
T |
9: 31,008,403 (GRCm39) |
N512K |
probably benign |
Het |
| Syce1l |
T |
A |
8: 114,382,061 (GRCm39) |
S237T |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tamm41 |
A |
T |
6: 115,009,207 (GRCm39) |
Y129N |
probably damaging |
Het |
| Tctn2 |
T |
C |
5: 124,753,357 (GRCm39) |
|
noncoding transcript |
Het |
| Tpr |
T |
C |
1: 150,285,053 (GRCm39) |
|
probably benign |
Het |
| Zfp335 |
T |
C |
2: 164,741,910 (GRCm39) |
K635R |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,811,968 (GRCm39) |
Y207C |
probably damaging |
Het |
|
| Other mutations in Vsig10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Vsig10
|
APN |
5 |
117,476,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00340:Vsig10
|
APN |
5 |
117,489,652 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01082:Vsig10
|
APN |
5 |
117,472,970 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01285:Vsig10
|
APN |
5 |
117,462,954 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01790:Vsig10
|
APN |
5 |
117,476,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03004:Vsig10
|
APN |
5 |
117,463,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D3080:Vsig10
|
UTSW |
5 |
117,481,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Vsig10
|
UTSW |
5 |
117,476,526 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0674:Vsig10
|
UTSW |
5 |
117,481,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Vsig10
|
UTSW |
5 |
117,489,635 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1689:Vsig10
|
UTSW |
5 |
117,490,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1710:Vsig10
|
UTSW |
5 |
117,489,719 (GRCm39) |
missense |
probably benign |
|
|
R1765:Vsig10
|
UTSW |
5 |
117,456,880 (GRCm39) |
unclassified |
probably benign |
|
|
R4422:Vsig10
|
UTSW |
5 |
117,462,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4541:Vsig10
|
UTSW |
5 |
117,490,881 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4909:Vsig10
|
UTSW |
5 |
117,476,308 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4999:Vsig10
|
UTSW |
5 |
117,482,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5855:Vsig10
|
UTSW |
5 |
117,476,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5866:Vsig10
|
UTSW |
5 |
117,490,814 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6214:Vsig10
|
UTSW |
5 |
117,481,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Vsig10
|
UTSW |
5 |
117,486,361 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6505:Vsig10
|
UTSW |
5 |
117,489,824 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6854:Vsig10
|
UTSW |
5 |
117,476,472 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7121:Vsig10
|
UTSW |
5 |
117,481,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7596:Vsig10
|
UTSW |
5 |
117,472,848 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8066:Vsig10
|
UTSW |
5 |
117,489,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8335:Vsig10
|
UTSW |
5 |
117,486,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8787:Vsig10
|
UTSW |
5 |
117,472,981 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9026:Vsig10
|
UTSW |
5 |
117,476,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9257:Vsig10
|
UTSW |
5 |
117,463,131 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9386:Vsig10
|
UTSW |
5 |
117,463,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9474:Vsig10
|
UTSW |
5 |
117,463,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCACAGAGGGTGTGACCATAG -3'
(R):5'- AAGATCTGGGCACGGGTATGCAAC -3'
Sequencing Primer
(F):5'- CGTGGAAGTTAACATCTCAGC -3'
(R):5'- TGCAACAGAATATTATACAGCCCTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation