Mutagenetix > Incidental Mutation

Incidental Mutation 'R5916:Vsir'

461345

Institutional Source

Beutler Lab

Gene Symbol

Vsir

Ensembl Gene

ENSMUSG00000020101

Gene Name

V-set immunoregulatory receptor

Synonyms

4632428N05Rik, Dies1, VISTA, PD-1H

MMRRC Submission

044113-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60182630-60208463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60193816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 93 (T93I)

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 damaging
Transcript: ENSMUST00000020301
AA Change: T93I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020301
Gene: ENSMUSG00000020101
AA Change: T93I

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: T12I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101099
Gene: ENSMUSG00000020101
AA Change: T12I

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: T93I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101100
Gene: ENSMUSG00000020101
AA Change: T93I

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

noncoding transcript
Transcript: ENSMUST00000169139

Predicted Effect

probably damaging
Transcript: ENSMUST00000170507
AA Change: T93I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127569
Gene: ENSMUSG00000020101
AA Change: T93I

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: ENSMUST00000164027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135638

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: 99.8%
3x: 99.3%
10x: 97.2%
20x: 92.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,349,550 (GRCm39)	N269I	possibly damaging	Het
Abcc1	G	T	16: 14,283,006 (GRCm39)	V1161F	possibly damaging	Het
Adam3	A	T	8: 25,174,555 (GRCm39)		probably null	Het
Agt	A	T	8: 125,290,597 (GRCm39)	S237T	possibly damaging	Het
Ano3	A	T	2: 110,512,181 (GRCm39)	F674L	probably benign	Het
Asb2	G	T	12: 103,290,135 (GRCm39)	A504E	probably damaging	Het
Atp13a1	T	A	8: 70,259,748 (GRCm39)	I1113N	probably damaging	Het
Atxn7l2	T	C	3: 108,112,978 (GRCm39)		probably null	Het
Bambi	A	G	18: 3,511,463 (GRCm39)	T95A	probably benign	Het
Cfap210	A	T	2: 69,619,806 (GRCm39)	M1K	probably null	Het
Clrn1	T	C	3: 58,753,783 (GRCm39)	T193A	probably benign	Het
Colgalt2	T	A	1: 152,379,873 (GRCm39)	D437E	probably damaging	Het
Dchs1	C	A	7: 105,408,373 (GRCm39)	A1820S	probably damaging	Het
Dnah12	T	A	14: 26,428,073 (GRCm39)	I233N	possibly damaging	Het
Dsc3	T	C	18: 20,120,077 (GRCm39)	N194D	probably damaging	Het
Dync2h1	A	G	9: 7,102,309 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,401,460 (GRCm39)	R36S	probably damaging	Het
Fam243	T	A	16: 92,117,559 (GRCm39)	E243V	probably damaging	Het
Fmnl3	A	T	15: 99,219,709 (GRCm39)	C680S	probably damaging	Het
Focad	T	C	4: 88,275,778 (GRCm39)	L1129P	unknown	Het
Fzd3	G	A	14: 65,440,178 (GRCm39)	T664I	probably benign	Het
Glb1l3	T	C	9: 26,766,032 (GRCm39)	I129V	probably benign	Het
Heatr1	T	C	13: 12,449,352 (GRCm39)	F1950S	probably damaging	Het
Herc6	G	A	6: 57,623,188 (GRCm39)	G597E	probably benign	Het
Hmcn2	T	A	2: 31,286,151 (GRCm39)	V2101D	probably damaging	Het
Il17re	T	A	6: 113,447,084 (GRCm39)	C612S	probably damaging	Het
Il36g	T	G	2: 24,082,806 (GRCm39)	*194E	probably null	Het
Junb	T	C	8: 85,704,505 (GRCm39)	Y185C	probably benign	Het
Lrriq1	G	A	10: 103,057,243 (GRCm39)	Q186*	probably null	Het
Lrrn2	T	A	1: 132,865,538 (GRCm39)	V201E	probably damaging	Het
Ly6l	A	T	15: 75,323,027 (GRCm39)	T68S	probably benign	Het
Marchf1	G	T	8: 66,839,763 (GRCm39)	R182L	possibly damaging	Het
Megf6	A	G	4: 154,333,882 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,793 (GRCm39)	S2708T	probably benign	Het
Mx1	T	C	16: 97,252,933 (GRCm39)	T396A	probably benign	Het
Naip5	A	C	13: 100,359,209 (GRCm39)	S676A	probably benign	Het
Npepl1	G	T	2: 173,963,337 (GRCm39)	W456C	probably benign	Het
Ntrk2	A	G	13: 58,956,543 (GRCm39)	M1V	probably null	Het
Nufip1	T	C	14: 76,372,340 (GRCm39)	*485Q	probably null	Het
Ocln	T	G	13: 100,642,687 (GRCm39)	D216A	possibly damaging	Het
Or10x1	A	T	1: 174,196,698 (GRCm39)	T72S	probably damaging	Het
Or1o11	C	T	17: 37,756,570 (GRCm39)	L53F	probably benign	Het
Or4f57	A	G	2: 111,791,175 (GRCm39)	M81T	probably damaging	Het
Or55b4	G	A	7: 102,133,586 (GRCm39)	S247F	probably damaging	Het
Ptprq	A	T	10: 107,359,374 (GRCm39)	M2243K	probably damaging	Het
Rad51b	C	T	12: 79,371,856 (GRCm39)	Q190*	probably null	Het
Resf1	C	T	6: 149,228,076 (GRCm39)	T374I	probably damaging	Het
Rfx8	T	C	1: 39,727,779 (GRCm39)	Y182C	probably benign	Het
Rpgrip1l	C	A	8: 91,979,541 (GRCm39)	R967L	possibly damaging	Het
Scube2	A	G	7: 109,430,931 (GRCm39)	Y423H	possibly damaging	Het
Sipa1l2	A	T	8: 126,195,312 (GRCm39)	Y809N	probably damaging	Het
Slc35f1	C	A	10: 52,809,317 (GRCm39)	Y101*	probably null	Het
Tbc1d22a	A	G	15: 86,098,809 (GRCm39)	K12E	possibly damaging	Het
Tent2	T	C	13: 93,312,055 (GRCm39)	D215G	probably damaging	Het
Tmcc2	C	T	1: 132,285,429 (GRCm39)	V646M	probably damaging	Het
Tpp1	A	T	7: 105,398,587 (GRCm39)	M243K	probably damaging	Het
Trappc12	A	G	12: 28,741,513 (GRCm39)	L732P	probably damaging	Het
U2af2	A	T	7: 5,082,179 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,540,795 (GRCm39)	N1877Y	probably damaging	Het
Zkscan5	T	A	5: 145,142,112 (GRCm39)	M3K	possibly damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	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
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
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
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'- TCAAGGTCACCACTCCATATTC -3'
(R):5'- TACCTGTAGCTCCATGGACC -3'

Sequencing Primer
(F):5'- ATATTCTCTCTATGTGTGTCCCGAGG -3'
(R):5'- ATGGACCCGTAGAACCGTTG -3'

Posted On

2017-02-28