Incidental Mutation 'IGL01790:Vsig10'
| ID |
155192 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vsig10
|
| Ensembl Gene |
ENSMUSG00000066894 |
| Gene Name |
V-set and immunoglobulin domain containing 10 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL01790
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
117457331-117493071 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 117476379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 278
(W278R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086464]
[ENSMUST00000111967]
|
| AlphaFold |
D3YX43 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086464
AA Change: W251R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083655
Gene: ENSMUSG00000066894
AA Change: W251R
| 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 damaging
Transcript: ENSMUST00000111967
AA Change: W278R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107598
Gene: ENSMUSG00000066894
AA Change: W278R
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(11) : Gene trapped(11) |
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astn1 |
T |
C |
1: 158,407,897 (GRCm39) |
I618T |
possibly damaging |
Het |
| Bod1l |
T |
C |
5: 41,989,593 (GRCm39) |
S377G |
probably benign |
Het |
| Disp2 |
A |
T |
2: 118,621,361 (GRCm39) |
S698C |
probably damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,773,012 (GRCm39) |
V43A |
probably damaging |
Het |
| Eml5 |
G |
T |
12: 98,765,191 (GRCm39) |
T1539K |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 53,008,380 (GRCm39) |
I824T |
probably damaging |
Het |
| Gpr75 |
T |
G |
11: 30,841,132 (GRCm39) |
N12K |
probably damaging |
Het |
| Hap1 |
C |
T |
11: 100,242,732 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
C |
2: 180,880,274 (GRCm39) |
Y481D |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,157,236 (GRCm39) |
|
probably null |
Het |
| Lrcol1 |
A |
G |
5: 110,502,073 (GRCm39) |
S49G |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,992,560 (GRCm39) |
M304T |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,731,587 (GRCm39) |
W88R |
probably damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,710,257 (GRCm39) |
V503A |
probably damaging |
Het |
| Ntm |
C |
A |
9: 29,322,886 (GRCm39) |
V45L |
probably benign |
Het |
| Or4c100 |
A |
G |
2: 88,356,767 (GRCm39) |
N280S |
probably damaging |
Het |
| Or4f60 |
T |
A |
2: 111,902,266 (GRCm39) |
I221L |
probably benign |
Het |
| Or4p22 |
T |
A |
2: 88,317,270 (GRCm39) |
S65T |
possibly damaging |
Het |
| Or5b116 |
A |
G |
19: 13,422,526 (GRCm39) |
D50G |
probably damaging |
Het |
| Or7a40 |
T |
C |
16: 16,490,967 (GRCm39) |
R293G |
probably damaging |
Het |
| Pias4 |
T |
C |
10: 80,993,332 (GRCm39) |
Q197R |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,628,895 (GRCm39) |
H684L |
probably damaging |
Het |
| Prr5 |
A |
C |
15: 84,651,415 (GRCm39) |
I288L |
possibly damaging |
Het |
| Psmb3 |
T |
A |
11: 97,603,336 (GRCm39) |
M183K |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,808,383 (GRCm39) |
F472L |
possibly damaging |
Het |
| Rpl3 |
A |
T |
15: 79,964,061 (GRCm39) |
|
probably benign |
Het |
| Scin |
A |
T |
12: 40,113,256 (GRCm39) |
D538E |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,701,038 (GRCm39) |
S165P |
probably benign |
Het |
| Slc43a2 |
C |
A |
11: 75,436,577 (GRCm39) |
|
probably null |
Het |
| Sparc |
C |
T |
11: 55,298,041 (GRCm39) |
|
probably null |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,119,975 (GRCm39) |
E382G |
possibly damaging |
Het |
| Tmx3 |
G |
A |
18: 90,529,458 (GRCm39) |
|
probably null |
Het |
| Trim24 |
C |
T |
6: 37,922,548 (GRCm39) |
P452S |
probably benign |
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 |
|
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 |
|
R0101:Vsig10
|
UTSW |
5 |
117,473,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation