Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02940:Trav12-1'

364455

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav12-1

Ensembl Gene

ENSMUSG00000096825

Gene Name

T cell receptor alpha variable 12-1

Synonyms

Gm17011

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02940

Quality Score

Status

Chromosome

Chromosomal Location

53775723-53776195 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53776017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 57 (W57R)

Ref Sequence

ENSEMBL: ENSMUSP00000143545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103650] [ENSMUST00000200115]

AlphaFold

A0N8R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000103650
AA Change: W56R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100427
Gene: ENSMUSG00000096825
AA Change: W56R

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
Pfam:V-set	21	114	3.8e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200115
AA Change: W57R

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

SMART Domains

Protein: ENSMUSP00000143545
Gene: ENSMUSG00000096825
AA Change: W57R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:V-set	27	115	5.8e-15	PFAM

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
Adgrg3	T	A	8: 95,760,084 (GRCm39)	V101D	possibly damaging	Het
Brca1	T	C	11: 101,380,738 (GRCm39)	D1765G	probably benign	Het
Cadps2	T	C	6: 23,496,808 (GRCm39)	K450R	probably benign	Het
Cc2d2a	A	T	5: 43,885,636 (GRCm39)		probably null	Het
Dbh	A	G	2: 27,058,321 (GRCm39)	Y163C	probably damaging	Het
Drc7	T	A	8: 95,800,925 (GRCm39)	I649N	probably damaging	Het
Dst	G	A	1: 34,328,668 (GRCm39)	A7097T	probably benign	Het
Fbxo46	A	G	7: 18,869,537 (GRCm39)	H52R	probably benign	Het
Gm9944	T	C	4: 144,179,709 (GRCm39)		probably benign	Het
Lsm14a	G	T	7: 34,070,596 (GRCm39)	S100*	probably null	Het
Mrc2	C	T	11: 105,231,997 (GRCm39)	R850C	probably damaging	Het
Musk	A	G	4: 58,373,364 (GRCm39)	D763G	probably damaging	Het
Ncan	C	T	8: 70,562,735 (GRCm39)	V508I	probably benign	Het
Or4k35	A	T	2: 111,100,073 (GRCm39)	L213Q	probably damaging	Het
Pgls	C	T	8: 72,046,741 (GRCm39)	S18L	probably damaging	Het
Phf20l1	A	G	15: 66,467,000 (GRCm39)	T98A	probably damaging	Het
Ppp1r36dn	A	C	12: 76,497,944 (GRCm39)		noncoding transcript	Het
Prdm13	T	A	4: 21,683,421 (GRCm39)	K180*	probably null	Het
Rai1	T	C	11: 60,077,844 (GRCm39)	V636A	probably benign	Het
Setd5	T	C	6: 113,091,899 (GRCm39)	F240S	possibly damaging	Het
Slco1a5	A	G	6: 142,187,731 (GRCm39)	L536P	probably damaging	Het
Stk39	C	T	2: 68,051,243 (GRCm39)		probably null	Het
Tenm2	T	C	11: 35,932,471 (GRCm39)	T1707A	probably damaging	Het
Tlr2	A	T	3: 83,743,781 (GRCm39)	D767E	probably benign	Het
Tlr7	C	T	X: 166,090,830 (GRCm39)	V219I	probably benign	Het
Tmprss7	A	G	16: 45,476,818 (GRCm39)	S815P	probably damaging	Het
Uxt	T	C	X: 20,826,025 (GRCm39)	E66G	possibly damaging	Het
Vmn2r45	A	T	7: 8,475,369 (GRCm39)	M553K	probably damaging	Het
Vmn2r67	A	G	7: 84,785,951 (GRCm39)	W685R	probably benign	Het
Vstm5	A	C	9: 15,168,962 (GRCm39)	D144A	probably damaging	Het
Zfp592	A	G	7: 80,674,575 (GRCm39)	H513R	probably damaging	Het
Zfp830	T	A	11: 82,656,295 (GRCm39)		probably benign	Het
Zfp990	A	G	4: 145,261,492 (GRCm39)		probably null	Het

Other mutations in Trav12-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02537:Trav12-1	APN	14	53,775,980 (GRCm39)	nonsense	probably null
IGL02613:Trav12-1	APN	14	53,775,742 (GRCm39)	missense	possibly damaging	0.53
IGL02821:Trav12-1	APN	14	53,775,916 (GRCm39)	missense	probably damaging	1.00
IGL02950:Trav12-1	APN	14	53,776,024 (GRCm39)	missense	probably damaging	1.00
Variegated	UTSW	14	53,775,988 (GRCm39)	missense	possibly damaging	0.90
R5469:Trav12-1	UTSW	14	53,775,930 (GRCm39)	missense	probably damaging	0.97
R7384:Trav12-1	UTSW	14	53,775,993 (GRCm39)	missense	probably benign	0.01
R7804:Trav12-1	UTSW	14	53,775,988 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-12-18