Incidental Mutation 'R6012:Vsig10l'
| ID |
479813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsig10l
|
| Ensembl Gene |
ENSMUSG00000070604 |
| Gene Name |
V-set and immunoglobulin domain containing 10 like |
| Synonyms |
2210412E05Rik |
| MMRRC Submission |
044188-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R6012 (G1)
|
| Quality Score |
125.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43112575-43121443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43117439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 575
(D575E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107974]
[ENSMUST00000107977]
[ENSMUST00000203042]
[ENSMUST00000203633]
[ENSMUST00000203769]
[ENSMUST00000204680]
|
| AlphaFold |
D3YZF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107974
|
| SMART Domains |
Protein: ENSMUSP00000103608
Gene: ENSMUSG00000013367
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
IG
|
39 |
130 |
1.7e-6 |
SMART |
|
IGc2
|
145 |
202 |
4.45e-10 |
SMART |
|
IGc2
|
229 |
298 |
1.69e-10 |
SMART |
|
low complexity region
|
323 |
334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107977
AA Change: D677E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103611
Gene: ENSMUSG00000070604
AA Change: D677E
| 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: D575E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144692
Gene: ENSMUSG00000070604
AA Change: D575E
| 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
|
| Meta Mutation Damage Score |
0.2897 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
A |
16: 8,400,691 (GRCm39) |
Y97N |
probably damaging |
Het |
| Adrm1b |
C |
A |
3: 92,336,791 (GRCm39) |
|
probably null |
Het |
| Akr1b10 |
A |
T |
6: 34,364,715 (GRCm39) |
I59F |
probably damaging |
Het |
| Als2 |
A |
T |
1: 59,224,374 (GRCm39) |
D1076E |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,919,598 (GRCm39) |
D266G |
probably benign |
Het |
| Bmp2k |
T |
A |
5: 97,211,467 (GRCm39) |
|
probably null |
Het |
| Cdc42bpa |
A |
G |
1: 179,892,655 (GRCm39) |
Y273C |
probably damaging |
Het |
| Chfr |
G |
T |
5: 110,292,517 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,909,476 (GRCm39) |
Q1363L |
probably benign |
Het |
| Ddx23 |
A |
T |
15: 98,548,651 (GRCm39) |
D352E |
possibly damaging |
Het |
| Ect2 |
T |
C |
3: 27,152,474 (GRCm39) |
|
probably benign |
Het |
| Efcab10 |
A |
C |
12: 33,448,592 (GRCm39) |
D107A |
probably damaging |
Het |
| Fcgr4 |
G |
A |
1: 170,853,233 (GRCm39) |
G146D |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 91,966,322 (GRCm39) |
T694A |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,370,409 (GRCm39) |
D152G |
probably damaging |
Het |
| Gli2 |
A |
C |
1: 118,765,445 (GRCm39) |
L902R |
probably damaging |
Het |
| Glis2 |
G |
A |
16: 4,429,172 (GRCm39) |
G125D |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,698,394 (GRCm39) |
Y168H |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,388,764 (GRCm39) |
K1962R |
possibly damaging |
Het |
| Hebp1 |
T |
A |
6: 135,145,055 (GRCm39) |
E14V |
probably damaging |
Het |
| Hhla1 |
A |
C |
15: 65,820,339 (GRCm39) |
I137S |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,337,934 (GRCm39) |
H2671R |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,113,098 (GRCm39) |
Y19C |
probably damaging |
Het |
| Hsd3b2 |
A |
T |
3: 98,619,333 (GRCm39) |
M204K |
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,031 (GRCm39) |
I551F |
probably benign |
Het |
| Itpkc |
A |
T |
7: 26,927,490 (GRCm39) |
D141E |
probably damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,248,296 (GRCm39) |
D757G |
probably benign |
Het |
| Mettl16 |
A |
T |
11: 74,678,474 (GRCm39) |
Y141F |
probably damaging |
Het |
| Mfng |
G |
A |
15: 78,640,840 (GRCm39) |
R302C |
probably damaging |
Het |
| Mogs |
T |
A |
6: 83,094,363 (GRCm39) |
S393R |
probably damaging |
Het |
| Mrps28 |
A |
G |
3: 8,965,044 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
C |
8: 108,093,765 (GRCm39) |
S150P |
probably benign |
Het |
| Or2w1 |
T |
C |
13: 21,316,978 (GRCm39) |
V11A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,832,237 (GRCm39) |
H244L |
probably damaging |
Het |
| Pcdh12 |
A |
G |
18: 38,416,805 (GRCm39) |
S107P |
probably damaging |
Het |
| Phf21a |
G |
A |
2: 92,182,120 (GRCm39) |
D463N |
probably damaging |
Het |
| Picalm |
A |
C |
7: 89,844,908 (GRCm39) |
I567L |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,808,428 (GRCm39) |
D5V |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,428,305 (GRCm39) |
T222M |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,535,067 (GRCm39) |
S3775P |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,446,243 (GRCm39) |
D982V |
probably damaging |
Het |
| Tas2r113 |
C |
T |
6: 132,870,644 (GRCm39) |
T224I |
probably damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,055,112 (GRCm39) |
D310G |
probably damaging |
Het |
| Tcf12 |
G |
T |
9: 71,766,229 (GRCm39) |
T468K |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,171,640 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,172,542 (GRCm39) |
Y1907H |
possibly damaging |
Het |
| Thsd7a |
T |
C |
6: 12,379,388 (GRCm39) |
|
probably null |
Het |
| Tln1 |
T |
A |
4: 43,539,508 (GRCm39) |
T1605S |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,087,083 (GRCm39) |
Y191C |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,220,272 (GRCm39) |
I355N |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,820,891 (GRCm39) |
D184E |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,462,791 (GRCm39) |
T796I |
unknown |
Het |
| Zfp639 |
A |
G |
3: 32,573,271 (GRCm39) |
D61G |
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 |
|
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'- AAGCATCCTTTCCCAGATCCAG -3'
(R):5'- AACTCAACTTACCTGCCTGG -3'
Sequencing Primer
(F):5'- GGGGTCCAGATCACAACCTTC -3'
(R):5'- CTGGCAGAGACCCCAAGATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation