Incidental Mutation 'R2358:Vsig10l'
| ID |
247012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsig10l
|
| Ensembl Gene |
ENSMUSG00000070604 |
| Gene Name |
V-set and immunoglobulin domain containing 10 like |
| Synonyms |
2210412E05Rik |
| MMRRC Submission |
040340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R2358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43112575-43121443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43118185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 689
(R689H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107974]
[ENSMUST00000107977]
[ENSMUST00000203042]
[ENSMUST00000203769]
|
| 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 |
probably benign
Transcript: ENSMUST00000107977
AA Change: R791H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103611
Gene: ENSMUSG00000070604
AA Change: R791H
| 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: ENSMUST00000203769
AA Change: R689H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144692
Gene: ENSMUSG00000070604
AA Change: R689H
| 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 |
noncoding transcript
Transcript: ENSMUST00000205247
|
| Meta Mutation Damage Score |
0.2579 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
| Ankzf1 |
C |
T |
1: 75,171,895 (GRCm39) |
H209Y |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,117,895 (GRCm39) |
M30K |
probably damaging |
Het |
| Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,579,109 (GRCm39) |
I183T |
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,803,168 (GRCm39) |
L259* |
probably null |
Het |
| Dennd2b |
A |
T |
7: 109,155,653 (GRCm39) |
S366T |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,719,823 (GRCm39) |
|
probably benign |
Het |
| Fcrl5 |
A |
G |
3: 87,353,726 (GRCm39) |
E357G |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,203,474 (GRCm39) |
|
probably null |
Het |
| Il12rb2 |
C |
T |
6: 67,275,179 (GRCm39) |
A649T |
probably damaging |
Het |
| Itfg1 |
C |
A |
8: 86,464,758 (GRCm39) |
V438F |
probably damaging |
Het |
| Jaml |
A |
C |
9: 45,012,361 (GRCm39) |
I283L |
possibly damaging |
Het |
| Kif28 |
A |
T |
1: 179,537,024 (GRCm39) |
H486Q |
probably damaging |
Het |
| Lrch4 |
A |
G |
5: 137,636,810 (GRCm39) |
|
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
| Mrpl32 |
A |
T |
13: 14,785,165 (GRCm39) |
V157E |
probably damaging |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,163,623 (GRCm39) |
D930G |
probably benign |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
| Or7a35 |
T |
C |
10: 78,854,022 (GRCm39) |
F289L |
probably damaging |
Het |
| Ovch2 |
A |
T |
7: 107,394,122 (GRCm39) |
H110Q |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Ptpn12 |
G |
A |
5: 21,203,690 (GRCm39) |
P363S |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,825,785 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
G |
14: 59,131,265 (GRCm39) |
|
noncoding transcript |
Het |
| Sap18b |
G |
A |
8: 96,552,191 (GRCm39) |
R67H |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Shmt2 |
T |
C |
10: 127,353,897 (GRCm39) |
T459A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,058,846 (GRCm39) |
S200G |
possibly damaging |
Het |
| Slc6a15 |
T |
G |
10: 103,252,646 (GRCm39) |
I603S |
probably benign |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
G |
A |
13: 59,851,702 (GRCm39) |
S142L |
probably benign |
Het |
| Spopfm2 |
G |
A |
3: 94,082,854 (GRCm39) |
A319V |
possibly damaging |
Het |
| Spopfm2 |
C |
A |
3: 94,082,855 (GRCm39) |
A319S |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Strip1 |
A |
G |
3: 107,523,135 (GRCm39) |
V633A |
probably benign |
Het |
| Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,028,913 (GRCm39) |
C157S |
probably benign |
Het |
| Themis |
T |
A |
10: 28,739,376 (GRCm39) |
N615K |
possibly damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,531,488 (GRCm39) |
D314E |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,566 (GRCm39) |
T179S |
probably benign |
Het |
| Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
G |
T |
8: 88,507,179 (GRCm39) |
A1034D |
possibly damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,107,272 (GRCm39) |
E454G |
possibly damaging |
Het |
| Zyg11a |
G |
T |
4: 108,053,343 (GRCm39) |
Q440K |
possibly 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 |
|
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 |
|
|
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'- TTAGACAACTGTAAGAGCGAGCATC -3'
(R):5'- CGAGTGCTGCTTCTTCACAG -3'
Sequencing Primer
(F):5'- TGTAAGAGCGAGCATCCCTGG -3'
(R):5'- GAAACACATGATTGCTCCTACGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation