Incidental Mutation 'IGL01503:Vsir'
ID |
88949 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vsir
|
Ensembl Gene |
ENSMUSG00000020101 |
Gene Name |
V-set immunoregulatory receptor |
Synonyms |
4632428N05Rik, Dies1, VISTA, PD-1H |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01503
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
60182630-60208463 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60204373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 172
(E172G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020301]
[ENSMUST00000073242]
[ENSMUST00000105459]
[ENSMUST00000105460]
[ENSMUST00000105461]
[ENSMUST00000105462]
[ENSMUST00000105464]
[ENSMUST00000105463]
[ENSMUST00000170507]
|
AlphaFold |
Q9D659 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020301
AA Change: E254G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020301 Gene: ENSMUSG00000020101 AA Change: E254G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
IG
|
39 |
168 |
6.45e-7 |
SMART |
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
low complexity region
|
276 |
291 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073242
|
SMART Domains |
Protein: ENSMUSP00000072973 Gene: ENSMUSG00000012819
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
CA
|
55 |
130 |
5.15e-13 |
SMART |
CA
|
154 |
234 |
3.19e-18 |
SMART |
CA
|
258 |
346 |
2.03e-11 |
SMART |
CA
|
371 |
458 |
8.11e-11 |
SMART |
CA
|
482 |
559 |
1.04e-22 |
SMART |
CA
|
583 |
669 |
3.55e-25 |
SMART |
CA
|
693 |
776 |
2.04e-25 |
SMART |
CA
|
800 |
888 |
5.03e-16 |
SMART |
CA
|
912 |
993 |
1.05e-27 |
SMART |
CA
|
1017 |
1100 |
1.99e-19 |
SMART |
CA
|
1124 |
1206 |
6.94e-19 |
SMART |
CA
|
1231 |
1311 |
1.99e-19 |
SMART |
CA
|
1335 |
1415 |
1.21e-18 |
SMART |
CA
|
1440 |
1524 |
2.38e-26 |
SMART |
CA
|
1549 |
1631 |
6.27e-26 |
SMART |
CA
|
1656 |
1741 |
6.99e-24 |
SMART |
CA
|
1765 |
1848 |
3.49e-24 |
SMART |
CA
|
1872 |
1956 |
2.78e-18 |
SMART |
CA
|
1984 |
2066 |
5.6e-14 |
SMART |
CA
|
2090 |
2171 |
2.59e-27 |
SMART |
CA
|
2195 |
2290 |
2.87e-11 |
SMART |
CA
|
2317 |
2399 |
1.01e-20 |
SMART |
CA
|
2423 |
2506 |
1.09e-25 |
SMART |
CA
|
2530 |
2608 |
7.91e-23 |
SMART |
CA
|
2634 |
2719 |
1.06e-23 |
SMART |
CA
|
2750 |
2843 |
2e-10 |
SMART |
Blast:CA
|
2867 |
2956 |
4e-51 |
BLAST |
transmembrane domain
|
3067 |
3089 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105459
AA Change: E172G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101099 Gene: ENSMUSG00000020101 AA Change: E172G
Domain | Start | End | E-Value | Type |
Pfam:V-set
|
13 |
86 |
5e-6 |
PFAM |
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
low complexity region
|
194 |
209 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105460
AA Change: E253G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101100 Gene: ENSMUSG00000020101 AA Change: E253G
Domain | Start | End | E-Value | Type |
IG
|
39 |
168 |
6.45e-7 |
SMART |
low complexity region
|
202 |
211 |
N/A |
INTRINSIC |
low complexity region
|
275 |
290 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105461
|
SMART Domains |
Protein: ENSMUSP00000101101 Gene: ENSMUSG00000012819
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
CA
|
55 |
130 |
5.15e-13 |
SMART |
CA
|
154 |
234 |
3.19e-18 |
SMART |
CA
|
258 |
346 |
2.03e-11 |
SMART |
CA
|
371 |
458 |
1.25e-11 |
SMART |
CA
|
482 |
559 |
1.04e-22 |
SMART |
CA
|
583 |
669 |
3.55e-25 |
SMART |
CA
|
693 |
776 |
2.04e-25 |
SMART |
CA
|
800 |
888 |
5.03e-16 |
SMART |
CA
|
912 |
993 |
1.05e-27 |
SMART |
CA
|
1017 |
1100 |
1.99e-19 |
SMART |
CA
|
1124 |
1206 |
6.94e-19 |
SMART |
CA
|
1231 |
1311 |
1.99e-19 |
SMART |
CA
|
1335 |
1416 |
5.26e-19 |
SMART |
CA
|
1441 |
1525 |
2.38e-26 |
SMART |
CA
|
1550 |
1632 |
6.27e-26 |
SMART |
CA
|
1657 |
1742 |
6.99e-24 |
SMART |
CA
|
1766 |
1849 |
3.49e-24 |
SMART |
CA
|
1873 |
1957 |
2.78e-18 |
SMART |
CA
|
1985 |
2067 |
5.6e-14 |
SMART |
CA
|
2091 |
2172 |
2.59e-27 |
SMART |
CA
|
2196 |
2291 |
2.87e-11 |
SMART |
CA
|
2318 |
2400 |
1.01e-20 |
SMART |
CA
|
2424 |
2507 |
1.09e-25 |
SMART |
CA
|
2531 |
2609 |
7.91e-23 |
SMART |
CA
|
2635 |
2720 |
1.06e-23 |
SMART |
CA
|
2751 |
2844 |
2e-10 |
SMART |
Blast:CA
|
2868 |
2957 |
4e-51 |
BLAST |
transmembrane domain
|
3068 |
3090 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105462
|
SMART Domains |
Protein: ENSMUSP00000101102 Gene: ENSMUSG00000012819
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
CA
|
55 |
130 |
5.15e-13 |
SMART |
CA
|
154 |
234 |
3.19e-18 |
SMART |
CA
|
261 |
349 |
2.03e-11 |
SMART |
CA
|
374 |
461 |
8.11e-11 |
SMART |
CA
|
485 |
562 |
1.04e-22 |
SMART |
CA
|
586 |
672 |
3.55e-25 |
SMART |
CA
|
696 |
779 |
2.04e-25 |
SMART |
CA
|
803 |
891 |
5.03e-16 |
SMART |
CA
|
915 |
996 |
1.05e-27 |
SMART |
CA
|
1020 |
1103 |
1.99e-19 |
SMART |
CA
|
1127 |
1209 |
6.94e-19 |
SMART |
CA
|
1234 |
1314 |
1.99e-19 |
SMART |
CA
|
1338 |
1418 |
1.21e-18 |
SMART |
CA
|
1443 |
1527 |
2.38e-26 |
SMART |
CA
|
1552 |
1634 |
6.27e-26 |
SMART |
CA
|
1659 |
1744 |
6.99e-24 |
SMART |
CA
|
1768 |
1851 |
3.49e-24 |
SMART |
CA
|
1875 |
1959 |
2.78e-18 |
SMART |
CA
|
1987 |
2069 |
5.6e-14 |
SMART |
CA
|
2093 |
2174 |
2.59e-27 |
SMART |
CA
|
2198 |
2293 |
2.87e-11 |
SMART |
CA
|
2320 |
2402 |
1.01e-20 |
SMART |
CA
|
2426 |
2509 |
1.09e-25 |
SMART |
CA
|
2533 |
2611 |
7.91e-23 |
SMART |
CA
|
2637 |
2722 |
1.06e-23 |
SMART |
CA
|
2753 |
2846 |
2e-10 |
SMART |
Blast:CA
|
2870 |
2959 |
4e-51 |
BLAST |
transmembrane domain
|
3070 |
3092 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128249
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105464
|
SMART Domains |
Protein: ENSMUSP00000101104 Gene: ENSMUSG00000012819
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
CA
|
55 |
130 |
5.15e-13 |
SMART |
CA
|
154 |
234 |
3.19e-18 |
SMART |
CA
|
258 |
346 |
2.03e-11 |
SMART |
CA
|
371 |
456 |
3.58e-12 |
SMART |
CA
|
480 |
557 |
1.04e-22 |
SMART |
CA
|
581 |
667 |
3.55e-25 |
SMART |
CA
|
691 |
774 |
2.04e-25 |
SMART |
CA
|
798 |
886 |
5.03e-16 |
SMART |
CA
|
910 |
991 |
1.05e-27 |
SMART |
CA
|
1015 |
1098 |
1.99e-19 |
SMART |
CA
|
1122 |
1204 |
6.94e-19 |
SMART |
CA
|
1229 |
1309 |
1.99e-19 |
SMART |
CA
|
1333 |
1414 |
5.26e-19 |
SMART |
CA
|
1439 |
1523 |
2.38e-26 |
SMART |
CA
|
1548 |
1630 |
6.27e-26 |
SMART |
CA
|
1655 |
1740 |
6.99e-24 |
SMART |
CA
|
1764 |
1847 |
3.49e-24 |
SMART |
CA
|
1871 |
1955 |
2.78e-18 |
SMART |
CA
|
1983 |
2065 |
5.6e-14 |
SMART |
CA
|
2089 |
2170 |
2.59e-27 |
SMART |
CA
|
2194 |
2289 |
2.87e-11 |
SMART |
CA
|
2316 |
2398 |
1.01e-20 |
SMART |
CA
|
2422 |
2505 |
1.09e-25 |
SMART |
CA
|
2529 |
2607 |
7.91e-23 |
SMART |
CA
|
2633 |
2718 |
1.06e-23 |
SMART |
CA
|
2749 |
2842 |
2e-10 |
SMART |
Blast:CA
|
2866 |
2955 |
3e-51 |
BLAST |
transmembrane domain
|
3066 |
3088 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105463
|
SMART Domains |
Protein: ENSMUSP00000101103 Gene: ENSMUSG00000012819
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
CA
|
55 |
130 |
5.15e-13 |
SMART |
CA
|
154 |
234 |
3.19e-18 |
SMART |
CA
|
258 |
346 |
2.03e-11 |
SMART |
CA
|
371 |
458 |
1.25e-11 |
SMART |
CA
|
482 |
559 |
1.04e-22 |
SMART |
CA
|
583 |
669 |
3.55e-25 |
SMART |
CA
|
693 |
776 |
2.04e-25 |
SMART |
CA
|
800 |
888 |
5.03e-16 |
SMART |
CA
|
912 |
993 |
1.05e-27 |
SMART |
CA
|
1017 |
1100 |
1.99e-19 |
SMART |
CA
|
1124 |
1206 |
6.94e-19 |
SMART |
CA
|
1231 |
1311 |
1.99e-19 |
SMART |
CA
|
1335 |
1416 |
5.26e-19 |
SMART |
CA
|
1441 |
1525 |
2.38e-26 |
SMART |
CA
|
1550 |
1632 |
6.27e-26 |
SMART |
CA
|
1657 |
1742 |
6.99e-24 |
SMART |
CA
|
1766 |
1849 |
3.49e-24 |
SMART |
CA
|
1873 |
1957 |
2.78e-18 |
SMART |
CA
|
1985 |
2067 |
5.6e-14 |
SMART |
CA
|
2091 |
2172 |
2.59e-27 |
SMART |
CA
|
2196 |
2291 |
2.87e-11 |
SMART |
CA
|
2318 |
2400 |
1.01e-20 |
SMART |
CA
|
2424 |
2507 |
1.09e-25 |
SMART |
CA
|
2531 |
2609 |
7.91e-23 |
SMART |
CA
|
2635 |
2720 |
1.06e-23 |
SMART |
CA
|
2751 |
2844 |
2e-10 |
SMART |
Blast:CA
|
2868 |
2957 |
4e-51 |
BLAST |
transmembrane domain
|
3068 |
3090 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170507
|
SMART Domains |
Protein: ENSMUSP00000127569 Gene: ENSMUSG00000020101
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Blast:IG
|
39 |
132 |
3e-61 |
BLAST |
low complexity region
|
141 |
150 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased leukocyte infiltration and T cell activation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110057P08Rik |
T |
A |
16: 88,971,757 (GRCm39) |
Y26* |
probably null |
Het |
Aadacl4fm4 |
T |
A |
4: 144,401,137 (GRCm39) |
I116F |
probably damaging |
Het |
Arpc1a |
T |
C |
5: 145,032,964 (GRCm39) |
V91A |
probably damaging |
Het |
Atp2a1 |
T |
A |
7: 126,047,750 (GRCm39) |
I687F |
probably damaging |
Het |
B3gnt5 |
A |
C |
16: 19,588,531 (GRCm39) |
Y250S |
probably damaging |
Het |
Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
C1s2 |
T |
C |
6: 124,602,612 (GRCm39) |
D527G |
probably damaging |
Het |
Chrna5 |
T |
A |
9: 54,905,455 (GRCm39) |
|
probably benign |
Het |
Cltc |
C |
A |
11: 86,586,526 (GRCm39) |
|
probably benign |
Het |
Dgkh |
T |
G |
14: 78,853,710 (GRCm39) |
I439L |
possibly damaging |
Het |
Dnajc16 |
G |
A |
4: 141,491,008 (GRCm39) |
T714I |
possibly damaging |
Het |
Fam13a |
A |
T |
6: 58,933,065 (GRCm39) |
I349N |
probably damaging |
Het |
Fig4 |
C |
T |
10: 41,132,514 (GRCm39) |
D431N |
probably benign |
Het |
Gabra4 |
A |
T |
5: 71,798,429 (GRCm39) |
N183K |
possibly damaging |
Het |
Ggt5 |
C |
T |
10: 75,445,944 (GRCm39) |
|
probably benign |
Het |
Hdac6 |
A |
G |
X: 7,798,418 (GRCm39) |
L798P |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,456,714 (GRCm39) |
V2030A |
probably benign |
Het |
Hecw2 |
A |
G |
1: 53,866,120 (GRCm39) |
Y1514H |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,480,823 (GRCm39) |
D4451G |
probably benign |
Het |
Krtcap3 |
T |
C |
5: 31,409,167 (GRCm39) |
|
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,217,695 (GRCm39) |
|
probably benign |
Het |
Mapkapk2 |
T |
C |
1: 130,986,499 (GRCm39) |
M1V |
probably null |
Het |
Mical3 |
A |
T |
6: 120,935,537 (GRCm39) |
I1663N |
probably benign |
Het |
Mvp |
G |
T |
7: 126,601,133 (GRCm39) |
|
probably benign |
Het |
Myo5c |
A |
G |
9: 75,170,324 (GRCm39) |
I485V |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,960,890 (GRCm39) |
C520* |
probably null |
Het |
Nos2 |
A |
G |
11: 78,836,689 (GRCm39) |
|
probably benign |
Het |
Ogdh |
G |
A |
11: 6,305,069 (GRCm39) |
V925M |
probably damaging |
Het |
Pde2a |
T |
A |
7: 101,151,143 (GRCm39) |
|
probably benign |
Het |
Plpp6 |
A |
G |
19: 28,942,279 (GRCm39) |
*293W |
probably null |
Het |
Pole |
T |
A |
5: 110,451,750 (GRCm39) |
I864K |
probably damaging |
Het |
Rexo4 |
A |
T |
2: 26,850,645 (GRCm39) |
I239N |
probably benign |
Het |
Scn1a |
T |
A |
2: 66,152,687 (GRCm39) |
I748F |
probably damaging |
Het |
Sfmbt2 |
A |
T |
2: 10,584,165 (GRCm39) |
R841* |
probably null |
Het |
Sh3bp5l |
A |
G |
11: 58,228,827 (GRCm39) |
N100S |
probably damaging |
Het |
Spic |
T |
A |
10: 88,511,623 (GRCm39) |
D211V |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,776,477 (GRCm39) |
|
probably benign |
Het |
Tshr |
A |
G |
12: 91,478,708 (GRCm39) |
Y83C |
probably damaging |
Het |
Wwp2 |
T |
C |
8: 108,276,413 (GRCm39) |
S508P |
probably damaging |
Het |
|
Other mutations in Vsir |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00950:Vsir
|
APN |
10 |
60,200,063 (GRCm39) |
nonsense |
probably null |
|
IGL01328:Vsir
|
APN |
10 |
60,203,539 (GRCm39) |
splice site |
probably benign |
|
plexiglass
|
UTSW |
10 |
60,194,047 (GRCm39) |
critical splice donor site |
probably null |
|
R0052:Vsir
|
UTSW |
10 |
60,193,861 (GRCm39) |
missense |
probably benign |
0.28 |
R1593:Vsir
|
UTSW |
10 |
60,193,737 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5062:Vsir
|
UTSW |
10 |
60,200,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R5916:Vsir
|
UTSW |
10 |
60,193,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R6230:Vsir
|
UTSW |
10 |
60,193,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R7474:Vsir
|
UTSW |
10 |
60,204,701 (GRCm39) |
missense |
probably benign |
0.09 |
R8169:Vsir
|
UTSW |
10 |
60,194,047 (GRCm39) |
critical splice donor site |
probably null |
|
R9432:Vsir
|
UTSW |
10 |
60,193,732 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2013-12-03 |