Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02997:Trav7d-4'

407156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav7d-4

Ensembl Gene

ENSMUSG00000094023

Gene Name

T cell receptor alpha variable 7D-4

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL02997

Quality Score

Status

Chromosome

Chromosomal Location

53007320-53007849 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53007713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 69 (S69P)

Ref Sequence

ENSEMBL: ENSMUSP00000136110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178768]

AlphaFold

Q5R1H9

Predicted Effect

probably damaging
Transcript: ENSMUST00000178768
AA Change: S69P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136110
Gene: ENSMUSG00000094023
AA Change: S69P

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	111	2.74e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197998

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,966,359 (GRCm39)		probably benign	Het
Adamts15	T	C	9: 30,817,353 (GRCm39)		probably benign	Het
Arsa	T	C	15: 89,358,241 (GRCm39)	D356G	probably damaging	Het
Cmbl	A	G	15: 31,585,490 (GRCm39)	K113E	probably benign	Het
Cmklr1	T	C	5: 113,752,701 (GRCm39)	D100G	probably benign	Het
Col23a1	T	A	11: 51,467,979 (GRCm39)	C517S	probably damaging	Het
Frem1	T	A	4: 82,853,205 (GRCm39)	L1699F	probably damaging	Het
Ganab	A	G	19: 8,892,776 (GRCm39)	D900G	probably benign	Het
Glrp1	T	C	1: 88,437,507 (GRCm39)		probably benign	Het
Gys2	A	T	6: 142,395,195 (GRCm39)	D423E	probably damaging	Het
H2-T9	A	G	17: 36,438,728 (GRCm39)	V221A	possibly damaging	Het
Hp	C	A	8: 110,302,418 (GRCm39)	V177F	probably damaging	Het
Isoc1	T	C	18: 58,804,516 (GRCm39)		probably benign	Het
Kif18b	A	G	11: 102,799,910 (GRCm39)	L513P	probably damaging	Het
Kifc2	T	C	15: 76,548,539 (GRCm39)	V342A	possibly damaging	Het
Krt78	A	T	15: 101,855,598 (GRCm39)	S738T	probably benign	Het
Lats1	A	G	10: 7,578,018 (GRCm39)	N381D	possibly damaging	Het
Masp2	C	A	4: 148,687,632 (GRCm39)		probably benign	Het
Mybpc1	G	T	10: 88,362,235 (GRCm39)	N982K	probably damaging	Het
Ncor2	A	T	5: 125,196,634 (GRCm39)		probably benign	Het
Nkg7	T	C	7: 43,087,291 (GRCm39)	F133L	probably damaging	Het
Nlrp1a	A	T	11: 71,014,491 (GRCm39)	I253N	probably damaging	Het
Nlrp4e	G	T	7: 23,000,799 (GRCm39)	Q31H	probably benign	Het
Or4p22	A	C	2: 88,317,732 (GRCm39)	I219L	probably damaging	Het
Orc6	T	A	8: 86,032,837 (GRCm39)		probably benign	Het
Pbrm1	C	T	14: 30,783,508 (GRCm39)	L542F	probably damaging	Het
Pcdh10	T	C	3: 45,333,797 (GRCm39)	I37T	probably damaging	Het
Pex5l	C	A	3: 33,009,991 (GRCm39)		probably benign	Het
Prl2b1	A	G	13: 27,569,087 (GRCm39)		probably benign	Het
Rnf168	G	A	16: 32,104,239 (GRCm39)	E146K	probably damaging	Het
Rsph6a	T	G	7: 18,788,764 (GRCm39)	L32R	probably benign	Het
Scaper	C	T	9: 55,722,783 (GRCm39)	R675H	probably damaging	Het
Sf3a2	G	A	10: 80,639,454 (GRCm39)	R148H	probably damaging	Het
Shank2	A	G	7: 143,635,610 (GRCm39)	N328S	probably benign	Het
Smurf1	T	A	5: 144,834,815 (GRCm39)	R153*	probably null	Het
Sorcs2	C	T	5: 36,225,492 (GRCm39)	V126M	probably damaging	Het
Tamalin	T	C	15: 101,128,899 (GRCm39)	S216P	probably damaging	Het
Trh	G	T	6: 92,220,115 (GRCm39)		probably benign	Het
Utp20	A	G	10: 88,649,896 (GRCm39)	V438A	probably benign	Het
Utp25	T	C	1: 192,802,892 (GRCm39)	Q275R	probably benign	Het
Wdfy3	T	C	5: 102,042,778 (GRCm39)	E1991G	probably null	Het

Other mutations in Trav7d-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03243:Trav7d-4	APN	14	53,007,555 (GRCm39)	splice site	probably benign
IGL03014:Trav7d-4	UTSW	14	53,007,353 (GRCm39)	missense	unknown
R2964:Trav7d-4	UTSW	14	53,007,584 (GRCm39)	nonsense	probably null
R2966:Trav7d-4	UTSW	14	53,007,584 (GRCm39)	nonsense	probably null
R3803:Trav7d-4	UTSW	14	53,007,575 (GRCm39)	nonsense	probably null
R5689:Trav7d-4	UTSW	14	53,007,651 (GRCm39)	missense	probably damaging	0.98
R6408:Trav7d-4	UTSW	14	53,007,624 (GRCm39)	missense	probably damaging	0.98
R6905:Trav7d-4	UTSW	14	53,007,770 (GRCm39)	missense	possibly damaging	0.93
R9361:Trav7d-4	UTSW	14	53,007,606 (GRCm39)	missense	probably damaging	1.00
Z1176:Trav7d-4	UTSW	14	53,007,570 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02