Mutagenetix > Incidental Mutation

Incidental Mutation 'R3972:Trav9-4'

474972

Institutional Source

Beutler Lab

Gene Symbol

Trav9-4

Ensembl Gene

ENSMUSG00000096678

Gene Name

T cell receptor alpha variable 9-4

Synonyms

Gm13907

MMRRC Submission

040840-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R3972 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

53913653-53914085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53913877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 44 (Y44H)

Ref Sequence

ENSEMBL: ENSMUSP00000100439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103662]

AlphaFold

A0A0B4J1K2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103662
AA Change: Y44H

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100439
Gene: ENSMUSG00000096678
AA Change: Y44H

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	37	112	6.45e-7	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	T	G	17: 72,292,442 (GRCm39)	D512A	probably benign	Het
Avl9	T	C	6: 56,720,393 (GRCm39)	F477S	probably damaging	Het
C7	C	T	15: 5,037,133 (GRCm39)	V582I	possibly damaging	Het
Cldn20	A	G	17: 3,582,914 (GRCm39)	N29S	probably benign	Het
Coro2b	C	T	9: 62,336,522 (GRCm39)	A251T	possibly damaging	Het
Dnah3	T	A	7: 119,685,943 (GRCm39)	D131V	probably damaging	Het
Dusp12	T	C	1: 170,707,344 (GRCm39)	K248R	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fgf1	T	C	18: 38,980,147 (GRCm39)	T76A	probably benign	Het
Gucy2c	C	T	6: 136,685,364 (GRCm39)	R859K	probably damaging	Het
Irf2bp1	T	A	7: 18,739,369 (GRCm39)	D336E	possibly damaging	Het
Lpar6	A	G	14: 73,476,513 (GRCm39)	H158R	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Lyst	T	C	13: 13,881,210 (GRCm39)	C2814R	possibly damaging	Het
Man2b1	A	G	8: 85,812,020 (GRCm39)	N158S	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mrpl16	A	G	19: 11,750,239 (GRCm39)	N41S	probably benign	Het
Myo5b	C	T	18: 74,873,598 (GRCm39)	L1501F	probably damaging	Het
Nudt9	G	T	5: 104,194,991 (GRCm39)	C29F	probably benign	Het
Or4d11	G	T	19: 12,013,383 (GRCm39)	T241N	probably damaging	Het
Otop1	A	G	5: 38,457,533 (GRCm39)	I431V	probably benign	Het
Otp	T	G	13: 95,019,692 (GRCm39)	L181R	probably damaging	Het
Pde4a	A	G	9: 21,117,513 (GRCm39)	T592A	probably damaging	Het
Pi4ka	A	G	16: 17,111,739 (GRCm39)	Y1579H	probably damaging	Het
Rb1cc1	T	C	1: 6,319,224 (GRCm39)	V864A	probably benign	Het
Reln	A	T	5: 22,183,999 (GRCm39)	F1667I	probably damaging	Het
Serpinb10	T	A	1: 107,463,852 (GRCm39)	F45I	probably damaging	Het
Setdb1	A	T	3: 95,248,649 (GRCm39)	N422K	probably damaging	Het
Slc17a7	A	G	7: 44,819,334 (GRCm39)	I137V	possibly damaging	Het
Tet1	T	A	10: 62,649,505 (GRCm39)	E67D	probably damaging	Het
Tpcn1	C	A	5: 120,691,817 (GRCm39)		probably null	Het
Trmt1l	A	G	1: 151,309,634 (GRCm39)	N106D	possibly damaging	Het
Ttll12	A	T	15: 83,466,297 (GRCm39)	L388Q	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubfd1	T	G	7: 121,666,656 (GRCm39)	S51A	probably benign	Het
Uckl1	T	C	2: 181,216,256 (GRCm39)	D148G	probably damaging	Het
Usp34	T	C	11: 23,407,803 (GRCm39)	L2571S	probably damaging	Het
Wdr75	T	C	1: 45,861,714 (GRCm39)	V718A	probably benign	Het
Zfp266	A	G	9: 20,411,446 (GRCm39)	S244P	probably damaging	Het
Zfp979	G	A	4: 147,702,876 (GRCm39)	Q25*	probably null	Het

Other mutations in Trav9-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02070:Trav9-4	APN	14	53,913,817 (GRCm39)	missense	possibly damaging	0.74
R5624:Trav9-4	UTSW	14	53,913,886 (GRCm39)	missense	probably benign	0.08

Predicted Primers

Posted On

2017-04-14