Mutagenetix > Incidental Mutation

Incidental Mutation 'R6340:Trav14-1'

513896

Institutional Source

Beutler Lab

Gene Symbol

Trav14-1

Ensembl Gene

ENSMUSG00000076840

Gene Name

T cell receptor alpha variable 14-1

Synonyms

Gm5770

MMRRC Submission

044494-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53791514-53792015 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53791955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 102 (S102P)

Ref Sequence

ENSEMBL: ENSMUSP00000143077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000198297]

AlphaFold

A0A0G2JF94

Predicted Effect

probably damaging
Transcript: ENSMUST00000198297
AA Change: S102P

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

SMART Domains

Protein: ENSMUSP00000143077
Gene: ENSMUSG00000076840
AA Change: S102P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGv	46	120	2.6e-13	SMART

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	C	T	1: 34,771,304 (GRCm39)	L1204F	probably damaging	Het
Atp9b	T	C	18: 80,822,115 (GRCm39)	D495G	probably benign	Het
B020011L13Rik	G	A	1: 117,729,614 (GRCm39)	V374I	probably benign	Het
Babam1	T	A	8: 71,855,449 (GRCm39)	V214D	probably damaging	Het
Chpf2	T	C	5: 24,796,773 (GRCm39)	V573A	probably damaging	Het
Elmo3	T	A	8: 106,033,379 (GRCm39)	I115N	probably damaging	Het
Emc1	T	A	4: 139,092,874 (GRCm39)	Y564N	probably damaging	Het
Fam180a	A	C	6: 35,292,322 (GRCm39)	L28R	probably damaging	Het
Fiz1	C	T	7: 5,011,400 (GRCm39)	A373T	possibly damaging	Het
Fnip2	A	G	3: 79,415,152 (GRCm39)	F243L	probably damaging	Het
Gabra5	A	T	7: 57,063,496 (GRCm39)	N309K	probably damaging	Het
Gm17654	A	G	14: 43,815,534 (GRCm39)	L91P	unknown	Het
Gm19684	G	A	17: 36,438,402 (GRCm39)		probably null	Het
Gm9376	A	T	14: 118,504,669 (GRCm39)	M34L	unknown	Het
Hmgcr	A	G	13: 96,802,366 (GRCm39)	F106S	probably damaging	Het
Hydin	T	G	8: 111,081,574 (GRCm39)		probably null	Het
Igf2bp3	A	G	6: 49,191,393 (GRCm39)	Y5H	probably damaging	Het
Igsf11	A	G	16: 38,829,336 (GRCm39)	T77A	probably benign	Het
Il20	A	G	1: 130,836,118 (GRCm39)	Y142H	probably benign	Het
Macf1	A	T	4: 123,342,042 (GRCm39)	D2160E	probably benign	Het
Melk	A	G	4: 44,340,633 (GRCm39)	Y310C	probably damaging	Het
Mep1a	C	T	17: 43,789,949 (GRCm39)	V454M	probably benign	Het
Mep1a	A	T	17: 43,790,124 (GRCm39)	N395K	probably benign	Het
Mnt	A	G	11: 74,727,242 (GRCm39)	K43E	probably damaging	Het
Nrap	A	G	19: 56,335,616 (GRCm39)	I853T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or1j13	T	C	2: 36,370,032 (GRCm39)	T37A	probably benign	Het
Or8d1b	T	G	9: 38,887,062 (GRCm39)	L30R	probably damaging	Het
Pdia4	A	G	6: 47,777,952 (GRCm39)	S347P	probably benign	Het
Pkd1l1	T	G	11: 8,794,649 (GRCm39)	Q1837H	probably benign	Het
Pramel11	T	C	4: 143,623,877 (GRCm39)	N99S	possibly damaging	Het
Pygo1	T	A	9: 72,852,711 (GRCm39)	N299K	probably damaging	Het
Sirpb1b	A	T	3: 15,613,725 (GRCm39)	V52E	probably damaging	Het
Tdrd7	T	A	4: 45,994,517 (GRCm39)	I305N	probably damaging	Het
Tsga10	C	A	1: 37,874,266 (GRCm39)		probably benign	Het
Uso1	T	A	5: 92,347,711 (GRCm39)	H837Q	probably benign	Het
Vmn2r82	A	T	10: 79,231,727 (GRCm39)	R575S	probably benign	Het
Yae1d1	C	A	13: 18,167,861 (GRCm39)	A11S	probably benign	Het
Zfp277	A	G	12: 40,368,548 (GRCm39)	I459T	possibly damaging	Het

Other mutations in Trav14-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02236:Trav14-1	APN	14	53,791,763 (GRCm39)	missense	possibly damaging	0.95
R5258:Trav14-1	UTSW	14	53,791,730 (GRCm39)	missense	probably benign	0.10
R6987:Trav14-1	UTSW	14	53,791,916 (GRCm39)	nonsense	probably null
R8838:Trav14-1	UTSW	14	53,792,009 (GRCm39)	missense	probably damaging	1.00
Z1177:Trav14-1	UTSW	14	53,791,836 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCTCTGACAGTCTGGGAAGG -3'
(R):5'- GCCTGAATGAGTCTAACCCC -3'

Sequencing Primer
(F):5'- CAGTCTGGGAAGGAGGAACCAC -3'
(R):5'- GCCTGAATGAGTCTAACCCCTATATC -3'

Posted On

2018-04-27