Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01320:Trav7-6'

74005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav7-6

Ensembl Gene

ENSMUSG00000096138

Gene Name

T cell receptor alpha variable 7-6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL01320

Quality Score

Status

Chromosome

Chromosomal Location

53954217-53954748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53954565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 32 (S32P)

Ref Sequence

ENSEMBL: ENSMUSP00000139015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103641] [ENSMUST00000184687]

AlphaFold

A0A075B6D1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103641
AA Change: S52P

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100418
Gene: ENSMUSG00000096138
AA Change: S52P

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	111	8.57e-12	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000103666

SMART Domains

Protein: ENSMUSP00000100443
Gene: ENSMUSG00000096138

Domain	Start	End	E-Value	Type
IGv	18	91	8.57e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184687
AA Change: S32P

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139015
Gene: ENSMUSG00000096138
AA Change: S32P

Domain	Start	End	E-Value	Type
IGv	18	91	8.57e-12	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,552,551 (GRCm39)	E229G	probably benign	Het
Abca16	T	A	7: 120,038,422 (GRCm39)	L368Q	probably damaging	Het
Ankrd17	A	T	5: 90,407,988 (GRCm39)	S1410T	probably damaging	Het
Asb8	A	G	15: 98,039,159 (GRCm39)		probably benign	Het
Bmal1	T	C	7: 112,902,614 (GRCm39)	I421T	probably damaging	Het
Chrdl2	A	G	7: 99,666,248 (GRCm39)	Y56C	probably damaging	Het
Crnn	T	C	3: 93,055,519 (GRCm39)	S102P	probably damaging	Het
Cyb5a	T	C	18: 84,897,648 (GRCm39)	I115T	probably damaging	Het
Daw1	T	C	1: 83,175,901 (GRCm39)	I213T	possibly damaging	Het
Dcp1b	T	A	6: 119,192,036 (GRCm39)	S317R	probably benign	Het
Dnah7a	T	C	1: 53,473,205 (GRCm39)	M3474V	probably benign	Het
E2f7	G	A	10: 110,589,954 (GRCm39)	V36I	probably benign	Het
Esrp1	A	G	4: 11,384,374 (GRCm39)	I103T	possibly damaging	Het
Hap1	G	A	11: 100,240,206 (GRCm39)	T530I	probably damaging	Het
Hps3	T	C	3: 20,084,633 (GRCm39)	N185S	probably benign	Het
Klra1	T	A	6: 130,341,224 (GRCm39)	I250F	probably benign	Het
Lipn	A	G	19: 34,062,040 (GRCm39)	T332A	probably benign	Het
Ltbp4	A	G	7: 27,027,784 (GRCm39)		probably benign	Het
Ncor2	A	G	5: 125,186,991 (GRCm39)	V11A	probably benign	Het
Nipsnap2	C	T	5: 129,821,828 (GRCm39)	T108M	probably damaging	Het
Or10ab4	A	G	7: 107,654,188 (GRCm39)		probably benign	Het
Or5w22	T	A	2: 87,362,629 (GRCm39)	M84K	probably benign	Het
Ppid	A	G	3: 79,502,584 (GRCm39)	E46G	probably damaging	Het
Rrp12	A	G	19: 41,866,375 (GRCm39)	L626P	probably damaging	Het
Slc6a15	A	T	10: 103,240,606 (GRCm39)	I410F	probably benign	Het
Sorcs1	A	G	19: 50,276,517 (GRCm39)		probably benign	Het
Src	G	A	2: 157,311,423 (GRCm39)	G461R	probably damaging	Het
St8sia5	A	T	18: 77,342,318 (GRCm39)	T307S	probably damaging	Het
Stac2	T	C	11: 97,930,921 (GRCm39)		probably null	Het
Tiam2	T	C	17: 3,556,020 (GRCm39)	L77P	probably damaging	Het
Tmem87b	G	T	2: 128,673,136 (GRCm39)	G190V	probably damaging	Het
Unc45b	A	G	11: 82,803,219 (GRCm39)		probably null	Het
Wnt1	C	A	15: 98,690,404 (GRCm39)	D244E	possibly damaging	Het

Other mutations in Trav7-6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0100:Trav7-6	UTSW	14	53,954,529 (GRCm39)	missense	probably damaging	1.00
R3023:Trav7-6	UTSW	14	53,954,701 (GRCm39)	missense	probably benign
R4020:Trav7-6	UTSW	14	53,954,638 (GRCm39)	missense	probably benign	0.19
R5049:Trav7-6	UTSW	14	53,954,536 (GRCm39)	missense	probably damaging	0.97
R7512:Trav7-6	UTSW	14	53,954,552 (GRCm39)	missense	probably benign	0.22
R8205:Trav7-6	UTSW	14	53,954,550 (GRCm39)	missense	probably benign	0.00
R8276:Trav7-6	UTSW	14	53,954,695 (GRCm39)	missense	probably benign	0.01
R9011:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign
R9012:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign
R9013:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign
R9014:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign
R9015:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign

Posted On

2013-10-07