Incidental Mutation 'R5317:Vsig10l'
| ID |
405869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsig10l
|
| Ensembl Gene |
ENSMUSG00000070604 |
| Gene Name |
V-set and immunoglobulin domain containing 10 like |
| Synonyms |
2210412E05Rik |
| MMRRC Submission |
042900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R5317 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43112575-43121443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43114247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 190
(S190P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107977]
[ENSMUST00000203042]
[ENSMUST00000203633]
[ENSMUST00000203769]
[ENSMUST00000204680]
|
| AlphaFold |
D3YZF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107977
AA Change: S292P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103611
Gene: ENSMUSG00000070604
AA Change: S292P
| 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 |
noncoding transcript
Transcript: ENSMUST00000203152
|
| 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 |
probably damaging
Transcript: ENSMUST00000203769
AA Change: S190P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144692
Gene: ENSMUSG00000070604
AA Change: S190P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205247
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arih1 |
A |
C |
9: 59,300,619 (GRCm39) |
H542Q |
probably benign |
Het |
| Ccn4 |
T |
G |
15: 66,789,131 (GRCm39) |
S206A |
probably benign |
Het |
| Cnot8 |
T |
C |
11: 58,004,029 (GRCm39) |
S155P |
probably damaging |
Het |
| Dcc |
C |
T |
18: 71,517,226 (GRCm39) |
E810K |
possibly damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,650,844 (GRCm39) |
V10A |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Eif4a3 |
G |
T |
11: 119,185,490 (GRCm39) |
H117N |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,141 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
A |
11: 97,228,671 (GRCm39) |
Q1161H |
probably damaging |
Het |
| Grm1 |
T |
G |
10: 10,622,443 (GRCm39) |
M427L |
possibly damaging |
Het |
| Grxcr2 |
T |
A |
18: 42,131,916 (GRCm39) |
H51L |
probably damaging |
Het |
| Il1rn |
C |
T |
2: 24,239,554 (GRCm39) |
T150I |
probably benign |
Het |
| Kcnc4 |
C |
T |
3: 107,366,055 (GRCm39) |
R51H |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,125,822 (GRCm39) |
S160P |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,971 (GRCm39) |
I2332M |
possibly damaging |
Het |
| Mcm9 |
G |
A |
10: 53,414,330 (GRCm39) |
P250L |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtmr2 |
T |
C |
9: 13,704,475 (GRCm39) |
F201L |
probably benign |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,480,020 (GRCm39) |
|
probably null |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,887 (GRCm39) |
D352E |
probably benign |
Het |
| Pdgfa |
A |
G |
5: 138,974,102 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
C |
1: 20,520,528 (GRCm39) |
D1938G |
probably damaging |
Het |
| Plac8 |
C |
T |
5: 100,704,345 (GRCm39) |
|
probably null |
Het |
| Rab11fip3 |
T |
C |
17: 26,287,052 (GRCm39) |
E367G |
possibly damaging |
Het |
| Sgo2a |
C |
T |
1: 58,054,683 (GRCm39) |
P289L |
probably benign |
Het |
| Slc22a18 |
T |
C |
7: 143,052,896 (GRCm39) |
Y374H |
probably damaging |
Het |
| Slco2a1 |
T |
C |
9: 102,956,778 (GRCm39) |
V530A |
probably benign |
Het |
| Spty2d1 |
A |
T |
7: 46,648,049 (GRCm39) |
S293R |
possibly damaging |
Het |
| Stt3b |
G |
T |
9: 115,081,578 (GRCm39) |
Y569* |
probably null |
Het |
| Tas2r140 |
A |
G |
6: 133,032,543 (GRCm39) |
Y72H |
probably benign |
Het |
| Usp35 |
C |
T |
7: 96,960,846 (GRCm39) |
R860H |
probably damaging |
Het |
| Vmn2r130 |
T |
A |
17: 23,282,557 (GRCm39) |
M79K |
probably benign |
Het |
| Wwc2 |
C |
T |
8: 48,300,590 (GRCm39) |
D958N |
unknown |
Het |
| Zfp318 |
AAGAAGG |
A |
17: 46,723,463 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
R8086:Vsig10l
|
UTSW |
7 |
43,114,876 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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'- GGGTCTATATCCCTGGATCAGAG -3'
(R):5'- TTCGGACCTGGCAAGTGTAC -3'
Sequencing Primer
(F):5'- CTATATCCCTGGATCAGAGGAAGAAG -3'
(R):5'- TGAGATGAGCAGCTGGTCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation