Incidental Mutation 'R8086:Vsig10l'
ID |
629655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vsig10l
|
Ensembl Gene |
ENSMUSG00000070604 |
Gene Name |
V-set and immunoglobulin domain containing 10 like |
Synonyms |
2210412E05Rik |
MMRRC Submission |
067519-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R8086 (G1)
|
Quality Score |
125.008 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
43112575-43121443 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 43114876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 359
(A359E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107977]
[ENSMUST00000203042]
[ENSMUST00000203633]
[ENSMUST00000203769]
[ENSMUST00000204680]
|
AlphaFold |
D3YZF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107977
AA Change: A461E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103611 Gene: ENSMUSG00000070604 AA Change: A461E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
IG
|
183 |
285 |
1.92e0 |
SMART |
IG
|
298 |
383 |
2.15e-3 |
SMART |
IGc2
|
406 |
465 |
4.19e-6 |
SMART |
Blast:IG_like
|
582 |
649 |
1e-13 |
BLAST |
transmembrane domain
|
764 |
786 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203042
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203633
|
SMART Domains |
Protein: ENSMUSP00000145061 Gene: ENSMUSG00000107482
Domain | Start | End | E-Value | Type |
ETF
|
26 |
216 |
2.7e-65 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203769
AA Change: A359E
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144692 Gene: ENSMUSG00000070604 AA Change: A359E
Domain | Start | End | E-Value | Type |
IG
|
81 |
183 |
8.1e-3 |
SMART |
IG
|
196 |
281 |
9.2e-6 |
SMART |
IGc2
|
304 |
363 |
1.8e-8 |
SMART |
Blast:IG_like
|
480 |
547 |
9e-14 |
BLAST |
transmembrane domain
|
662 |
684 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204680
|
SMART Domains |
Protein: ENSMUSP00000145493 Gene: ENSMUSG00000107482
Domain | Start | End | E-Value | Type |
ETF
|
26 |
168 |
2.4e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.4%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,055,808 (GRCm39) |
H372L |
|
Het |
Abcb1a |
A |
T |
5: 8,724,833 (GRCm39) |
T89S |
probably benign |
Het |
Ago1 |
A |
G |
4: 126,354,774 (GRCm39) |
V146A |
probably benign |
Het |
App |
T |
C |
16: 84,917,428 (GRCm39) |
Y72C |
unknown |
Het |
Arhgap20 |
T |
C |
9: 51,760,563 (GRCm39) |
S805P |
probably benign |
Het |
Bak1 |
T |
A |
17: 27,239,911 (GRCm39) |
R208S |
probably benign |
Het |
Btnl4 |
A |
C |
17: 34,692,976 (GRCm39) |
|
probably null |
Het |
Cacng7 |
T |
C |
7: 3,387,518 (GRCm39) |
S134P |
probably benign |
Het |
Capn9 |
A |
T |
8: 125,334,692 (GRCm39) |
|
probably null |
Het |
Cox4i1 |
T |
A |
8: 121,400,779 (GRCm39) |
M148K |
probably damaging |
Het |
Ctnna1 |
A |
G |
18: 35,285,713 (GRCm39) |
I20V |
possibly damaging |
Het |
Dennd2c |
T |
A |
3: 103,040,661 (GRCm39) |
Y309N |
possibly damaging |
Het |
Dnah14 |
C |
A |
1: 181,593,797 (GRCm39) |
T3380K |
probably damaging |
Het |
Dnajc3 |
G |
T |
14: 119,208,192 (GRCm39) |
E276* |
probably null |
Het |
Dock10 |
C |
A |
1: 80,481,707 (GRCm39) |
C1772F |
probably benign |
Het |
Fank1 |
A |
T |
7: 133,454,959 (GRCm39) |
E26D |
possibly damaging |
Het |
Fcgbp |
G |
T |
7: 27,813,389 (GRCm39) |
C2308F |
probably damaging |
Het |
Fyco1 |
A |
T |
9: 123,659,471 (GRCm39) |
M235K |
probably damaging |
Het |
Gm7361 |
C |
T |
5: 26,465,446 (GRCm39) |
R148C |
probably damaging |
Het |
Hinfp |
C |
T |
9: 44,210,286 (GRCm39) |
R183Q |
probably damaging |
Het |
Hpd |
T |
C |
5: 123,314,252 (GRCm39) |
Y221C |
probably benign |
Het |
Hrnr |
A |
T |
3: 93,230,728 (GRCm39) |
H322L |
unknown |
Het |
Il6st |
T |
A |
13: 112,631,094 (GRCm39) |
|
probably null |
Het |
Impa1 |
T |
C |
3: 10,387,988 (GRCm39) |
K145E |
probably benign |
Het |
Itga9 |
A |
T |
9: 118,679,869 (GRCm39) |
M847L |
probably benign |
Het |
Itgb6 |
A |
G |
2: 60,480,376 (GRCm39) |
V320A |
probably damaging |
Het |
Lrrfip1 |
T |
A |
1: 91,043,630 (GRCm39) |
H678Q |
probably benign |
Het |
Mettl16 |
A |
G |
11: 74,696,091 (GRCm39) |
T311A |
probably benign |
Het |
Nefl |
T |
C |
14: 68,323,480 (GRCm39) |
Y369H |
probably damaging |
Het |
Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,800,188 (GRCm39) |
Y2983C |
probably damaging |
Het |
Potegl |
A |
G |
2: 23,130,934 (GRCm39) |
|
probably null |
Het |
Prr5l |
C |
T |
2: 101,571,709 (GRCm39) |
E123K |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,482,500 (GRCm39) |
Y1024* |
probably null |
Het |
Ramp2 |
T |
A |
11: 101,138,762 (GRCm39) |
L147Q |
probably damaging |
Het |
Rassf1 |
C |
T |
9: 107,435,173 (GRCm39) |
R223C |
probably benign |
Het |
Rcbtb2 |
T |
C |
14: 73,411,305 (GRCm39) |
F357L |
probably damaging |
Het |
Rnf24 |
A |
G |
2: 131,145,468 (GRCm39) |
V114A |
probably benign |
Het |
Slc7a1 |
T |
G |
5: 148,288,899 (GRCm39) |
N116T |
probably damaging |
Het |
Sstr2 |
T |
C |
11: 113,515,998 (GRCm39) |
C306R |
probably damaging |
Het |
Tatdn2 |
T |
C |
6: 113,686,482 (GRCm39) |
S697P |
probably damaging |
Het |
Tmem67 |
T |
A |
4: 12,040,738 (GRCm39) |
N935I |
probably damaging |
Het |
Trp73 |
G |
A |
4: 154,201,052 (GRCm39) |
P4S |
unknown |
Het |
Vmn1r237 |
T |
G |
17: 21,534,509 (GRCm39) |
D77E |
possibly damaging |
Het |
Vmn1r238 |
C |
T |
18: 3,123,250 (GRCm39) |
A55T |
probably damaging |
Het |
Wdr24 |
T |
C |
17: 26,045,101 (GRCm39) |
Y279H |
probably damaging |
Het |
Zbtb25 |
A |
G |
12: 76,395,923 (GRCm39) |
V433A |
probably benign |
Het |
Zfp180 |
C |
A |
7: 23,805,535 (GRCm39) |
D651E |
probably benign |
Het |
Zfp979 |
T |
C |
4: 147,698,004 (GRCm39) |
D235G |
probably damaging |
Het |
|
Other mutations in Vsig10l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01319:Vsig10l
|
APN |
7 |
43,114,678 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01390:Vsig10l
|
APN |
7 |
43,115,889 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02401:Vsig10l
|
APN |
7 |
43,113,468 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02404:Vsig10l
|
APN |
7 |
43,113,171 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02514:Vsig10l
|
APN |
7 |
43,113,338 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02636:Vsig10l
|
APN |
7 |
43,113,002 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02805:Vsig10l
|
APN |
7 |
43,114,666 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02823:Vsig10l
|
APN |
7 |
43,115,888 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02827:Vsig10l
|
APN |
7 |
43,114,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R0111:Vsig10l
|
UTSW |
7 |
43,117,525 (GRCm39) |
missense |
probably damaging |
0.97 |
R0394:Vsig10l
|
UTSW |
7 |
43,114,879 (GRCm39) |
missense |
probably damaging |
0.97 |
R0465:Vsig10l
|
UTSW |
7 |
43,116,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R0632:Vsig10l
|
UTSW |
7 |
43,113,561 (GRCm39) |
missense |
probably damaging |
0.97 |
R1689:Vsig10l
|
UTSW |
7 |
43,114,792 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1991:Vsig10l
|
UTSW |
7 |
43,116,892 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2103:Vsig10l
|
UTSW |
7 |
43,116,892 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2358:Vsig10l
|
UTSW |
7 |
43,118,185 (GRCm39) |
missense |
probably benign |
0.00 |
R3015:Vsig10l
|
UTSW |
7 |
43,116,881 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4024:Vsig10l
|
UTSW |
7 |
43,117,510 (GRCm39) |
missense |
probably benign |
0.33 |
R4031:Vsig10l
|
UTSW |
7 |
43,114,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Vsig10l
|
UTSW |
7 |
43,113,173 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5020:Vsig10l
|
UTSW |
7 |
43,114,741 (GRCm39) |
nonsense |
probably null |
|
R5261:Vsig10l
|
UTSW |
7 |
43,120,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R5317:Vsig10l
|
UTSW |
7 |
43,114,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R5426:Vsig10l
|
UTSW |
7 |
43,114,247 (GRCm39) |
missense |
probably damaging |
0.97 |
R5656:Vsig10l
|
UTSW |
7 |
43,113,575 (GRCm39) |
nonsense |
probably null |
|
R5842:Vsig10l
|
UTSW |
7 |
43,118,396 (GRCm39) |
missense |
probably benign |
0.15 |
R6012:Vsig10l
|
UTSW |
7 |
43,117,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R6235:Vsig10l
|
UTSW |
7 |
43,118,396 (GRCm39) |
missense |
probably benign |
0.15 |
R6309:Vsig10l
|
UTSW |
7 |
43,120,397 (GRCm39) |
splice site |
probably null |
|
R6994:Vsig10l
|
UTSW |
7 |
43,114,491 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7250:Vsig10l
|
UTSW |
7 |
43,113,099 (GRCm39) |
missense |
probably benign |
|
R7397:Vsig10l
|
UTSW |
7 |
43,117,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R7767:Vsig10l
|
UTSW |
7 |
43,113,141 (GRCm39) |
missense |
probably damaging |
0.96 |
R7956:Vsig10l
|
UTSW |
7 |
43,117,494 (GRCm39) |
missense |
probably benign |
|
R8139:Vsig10l
|
UTSW |
7 |
43,113,153 (GRCm39) |
missense |
probably benign |
0.00 |
R8297:Vsig10l
|
UTSW |
7 |
43,113,531 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8341:Vsig10l
|
UTSW |
7 |
43,113,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R8519:Vsig10l
|
UTSW |
7 |
43,114,326 (GRCm39) |
missense |
probably benign |
0.33 |
R8925:Vsig10l
|
UTSW |
7 |
43,116,020 (GRCm39) |
missense |
probably benign |
0.41 |
R8927:Vsig10l
|
UTSW |
7 |
43,116,020 (GRCm39) |
missense |
probably benign |
0.41 |
R8948:Vsig10l
|
UTSW |
7 |
43,117,623 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9157:Vsig10l
|
UTSW |
7 |
43,112,948 (GRCm39) |
missense |
|
|
R9203:Vsig10l
|
UTSW |
7 |
43,112,657 (GRCm39) |
start codon destroyed |
probably null |
|
R9481:Vsig10l
|
UTSW |
7 |
43,112,795 (GRCm39) |
nonsense |
probably null |
|
X0028:Vsig10l
|
UTSW |
7 |
43,112,788 (GRCm39) |
utr 3 prime |
probably benign |
|
X0067:Vsig10l
|
UTSW |
7 |
43,116,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATTAGGGTCTCCTCGGAC -3'
(R):5'- TGGCATCTTCTCCAACAGCC -3'
Sequencing Primer
(F):5'- ATGCCAGTCCTGCGCTC -3'
(R):5'- ACCGGTAGCTGCCCTAG -3'
|
Posted On |
2020-06-30 |