Incidental Mutation 'R1593:Vsir'
| ID |
175618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vsir
|
| Ensembl Gene |
ENSMUSG00000020101 |
| Gene Name |
V-set immunoregulatory receptor |
| Synonyms |
4632428N05Rik, Dies1, VISTA, PD-1H |
| MMRRC Submission |
039630-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1593 (G1)
|
| Quality Score |
130 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
60182630-60208463 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60193737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 67
(T67A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020301]
[ENSMUST00000073242]
[ENSMUST00000105459]
[ENSMUST00000105460]
[ENSMUST00000105461]
[ENSMUST00000105462]
[ENSMUST00000105463]
[ENSMUST00000170507]
[ENSMUST00000105464]
|
| AlphaFold |
Q9D659 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020301
AA Change: T67A
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020301
Gene: ENSMUSG00000020101
AA Change: T67A
| 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 benign
Transcript: ENSMUST00000105459
|
| SMART Domains |
Protein: ENSMUSP00000101099
Gene: ENSMUSG00000020101
| 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 benign
Transcript: ENSMUST00000105460
AA Change: T67A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101100
Gene: ENSMUSG00000020101
AA Change: T67A
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000170507
AA Change: T67A
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127569
Gene: ENSMUSG00000020101
AA Change: T67A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169139
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
T |
11: 100,372,581 (GRCm39) |
I902N |
possibly damaging |
Het |
| Acsl6 |
A |
G |
11: 54,214,134 (GRCm39) |
D88G |
probably damaging |
Het |
| Adam1a |
A |
C |
5: 121,657,706 (GRCm39) |
I529S |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,638,435 (GRCm39) |
V838A |
unknown |
Het |
| Arrdc2 |
T |
C |
8: 71,289,764 (GRCm39) |
Y280C |
probably damaging |
Het |
| Atg10 |
T |
C |
13: 91,302,380 (GRCm39) |
T53A |
probably benign |
Het |
| Ccdc136 |
T |
C |
6: 29,415,583 (GRCm39) |
S699P |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,769,379 (GRCm39) |
V462L |
possibly damaging |
Het |
| Clcn6 |
C |
T |
4: 148,099,051 (GRCm39) |
A431T |
probably benign |
Het |
| Cntn6 |
T |
G |
6: 104,809,541 (GRCm39) |
H525Q |
possibly damaging |
Het |
| Ctr9 |
T |
C |
7: 110,642,060 (GRCm39) |
F296S |
possibly damaging |
Het |
| Ctsq |
T |
A |
13: 61,183,986 (GRCm39) |
|
probably null |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Epha6 |
A |
T |
16: 60,245,267 (GRCm39) |
F311I |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,798,582 (GRCm39) |
T150S |
possibly damaging |
Het |
| Exoc2 |
C |
A |
13: 31,040,744 (GRCm39) |
R758L |
possibly damaging |
Het |
| Exosc7 |
G |
C |
9: 122,961,058 (GRCm39) |
V242L |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,921,315 (GRCm39) |
D190G |
possibly damaging |
Het |
| Fgd6 |
T |
C |
10: 93,880,894 (GRCm39) |
S583P |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,477,999 (GRCm39) |
Y60C |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,091,150 (GRCm39) |
I815N |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,528,113 (GRCm39) |
L257Q |
probably damaging |
Het |
| Hectd3 |
C |
A |
4: 116,854,217 (GRCm39) |
T289K |
possibly damaging |
Het |
| Itgb4 |
T |
C |
11: 115,871,817 (GRCm39) |
V207A |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,013,104 (GRCm39) |
E443G |
probably damaging |
Het |
| Meis2 |
T |
A |
2: 115,830,745 (GRCm39) |
D256V |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,754,686 (GRCm38) |
N1520S |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,387,281 (GRCm39) |
R719G |
probably null |
Het |
| Or6c210 |
A |
T |
10: 129,496,094 (GRCm39) |
R140* |
probably null |
Het |
| Pabpc6 |
A |
T |
17: 9,886,742 (GRCm39) |
M603K |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,486,012 (GRCm39) |
R1862L |
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,337,381 (GRCm39) |
I399N |
possibly damaging |
Het |
| Pon2 |
T |
C |
6: 5,273,003 (GRCm39) |
D122G |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,579,425 (GRCm39) |
W378R |
unknown |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,488 (GRCm39) |
E389D |
probably damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rarg |
A |
G |
15: 102,148,376 (GRCm39) |
F233L |
probably damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,453,490 (GRCm39) |
F90L |
possibly damaging |
Het |
| Rrp12 |
T |
A |
19: 41,851,680 (GRCm39) |
H1285L |
probably benign |
Het |
| Slc16a13 |
C |
A |
11: 70,109,908 (GRCm39) |
A198S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,988,059 (GRCm39) |
D441G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,414 (GRCm39) |
F1099S |
probably damaging |
Het |
| Tex19.1 |
T |
A |
11: 121,038,079 (GRCm39) |
W146R |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,418,445 (GRCm39) |
D197G |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 44,014,593 (GRCm39) |
H644R |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,778,910 (GRCm39) |
V352A |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,581,675 (GRCm39) |
K233E |
probably damaging |
Het |
| Wdr49 |
T |
C |
3: 75,304,248 (GRCm39) |
N487S |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,786 (GRCm39) |
N99S |
probably damaging |
Het |
| Zfp583 |
C |
T |
7: 6,320,008 (GRCm39) |
G335S |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,354,675 (GRCm39) |
V98E |
possibly 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 |
|
|
IGL01503:Vsir
|
APN |
10 |
60,204,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGAAGTCACGCTTTCTCATC -3'
(R):5'- ATCACTAGACAGCAGTAGAGGCCG -3'
Sequencing Primer
(F):5'- AAGTCACGCTTTCTCATCTGGAG -3'
(R):5'- AGTAGAGGCCGCTGTCC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation