Mutagenetix > Incidental Mutation

Incidental Mutation 'R7649:Trav5-4'

590711

Institutional Source

Beutler Lab

Gene Symbol

Trav5-4

Ensembl Gene

ENSMUSG00000095607

Gene Name

T cell receptor alpha variable 5-4

Synonyms

MMRRC Submission

045646-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53941464-53941971 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 53941902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 92 (K92*)

Ref Sequence

ENSEMBL: ENSMUSP00000100441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103664]

AlphaFold

A0A075B652

Predicted Effect

probably null
Transcript: ENSMUST00000103664
AA Change: K92*

SMART Domains

Protein: ENSMUSP00000100441
Gene: ENSMUSG00000095607
AA Change: K92*

Domain	Start	End	E-Value	Type
IG	29	114	2.31e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3b	T	C	5: 26,053,364 (GRCm39)	V319A	probably benign	Het
Adam28	T	A	14: 68,872,282 (GRCm39)	Y320F	probably benign	Het
Adam4	T	C	12: 81,467,151 (GRCm39)	Y490C	probably damaging	Het
Ampd3	G	T	7: 110,377,049 (GRCm39)	L13F	probably benign	Het
Arhgap45	C	A	10: 79,866,835 (GRCm39)	Q1113K	probably benign	Het
Arid5b	T	C	10: 67,954,175 (GRCm39)	T370A	possibly damaging	Het
Arl15	A	G	13: 114,104,208 (GRCm39)	D115G	possibly damaging	Het
AW146154	G	A	7: 41,130,156 (GRCm39)	T320I	probably benign	Het
Cdh17	C	T	4: 11,814,698 (GRCm39)	P751L	probably damaging	Het
Chchd4	C	T	6: 91,444,754 (GRCm39)	R11Q	probably benign	Het
Clta	T	G	4: 44,025,494 (GRCm39)	I140R	possibly damaging	Het
Cnpy1	T	C	5: 28,412,282 (GRCm39)	T84A	probably benign	Het
Cpne5	T	C	17: 29,445,172 (GRCm39)	D44G	probably damaging	Het
Crkl	T	C	16: 17,270,366 (GRCm39)	S9P	unknown	Het
Csmd3	T	C	15: 47,532,539 (GRCm39)	D1641G		Het
Ctnnd2	A	G	15: 31,027,630 (GRCm39)	T1185A	probably benign	Het
Dlc1	A	T	8: 37,049,894 (GRCm39)	L607Q	probably damaging	Het
Dpy19l2	T	C	9: 24,607,459 (GRCm39)	M1V	probably null	Het
Dst	T	C	1: 34,206,778 (GRCm39)	V982A	probably benign	Het
Fam135b	T	C	15: 71,334,429 (GRCm39)	I922V	probably benign	Het
Fbxl13	T	C	5: 21,819,664 (GRCm39)	E245G	probably benign	Het
Fcgbp	T	C	7: 27,790,928 (GRCm39)	S730P	possibly damaging	Het
Ggt1	T	C	10: 75,421,290 (GRCm39)	V468A	possibly damaging	Het
Gja5	A	T	3: 96,958,957 (GRCm39)	H338L	probably benign	Het
Herpud2	T	C	9: 25,021,902 (GRCm39)	E248G	possibly damaging	Het
Il17rd	C	A	14: 26,761,167 (GRCm39)	A36E	probably benign	Het
Irf2bpl	T	C	12: 86,929,572 (GRCm39)	Y367C	possibly damaging	Het
Lama1	T	A	17: 68,044,549 (GRCm39)	D149E		Het
Lipf	A	T	19: 33,943,098 (GRCm39)	E135D	possibly damaging	Het
Manea	T	A	4: 26,328,234 (GRCm39)	D269V	probably damaging	Het
Megf6	A	G	4: 154,349,542 (GRCm39)	Y910C	probably damaging	Het
Mical3	G	A	6: 120,911,909 (GRCm39)	R1928W	probably damaging	Het
Or13c3	G	A	4: 52,855,692 (GRCm39)	Q274*	probably null	Het
Or5b108	T	A	19: 13,168,136 (GRCm39)	I35N	possibly damaging	Het
Plch1	G	T	3: 63,605,590 (GRCm39)	S1438*	probably null	Het
Por	T	C	5: 135,763,359 (GRCm39)	F595L	probably damaging	Het
Prkcg	G	A	7: 3,378,480 (GRCm39)	R634H	probably benign	Het
Prr14l	C	T	5: 32,985,589 (GRCm39)	G1302D	probably benign	Het
Rcan3	A	T	4: 135,139,799 (GRCm39)	S135T	probably benign	Het
Rnf223	A	G	4: 156,216,660 (GRCm39)	M12V	probably benign	Het
Rps6kb2	A	G	19: 4,207,020 (GRCm39)	S483P	unknown	Het
Sacs	T	A	14: 61,440,677 (GRCm39)	F908I	possibly damaging	Het
Slc4a9	A	G	18: 36,661,430 (GRCm39)	Q64R	probably benign	Het
Slco4c1	T	A	1: 96,756,667 (GRCm39)	I552F	probably benign	Het
Sppl2b	C	T	10: 80,703,253 (GRCm39)	P505L	probably benign	Het
Sptbn4	A	G	7: 27,061,002 (GRCm39)	S2434P	possibly damaging	Het
Ssh1	A	T	5: 114,088,612 (GRCm39)	M395K	probably benign	Het
Stk10	A	T	11: 32,527,764 (GRCm39)	I171F		Het
Tmx3	C	T	18: 90,558,154 (GRCm39)	A402V	probably damaging	Het
Tnfrsf13c	T	C	15: 82,108,341 (GRCm39)	D58G	possibly damaging	Het
Tnk1	T	C	11: 69,744,403 (GRCm39)		probably null	Het
Trav14n-3	A	T	14: 53,607,951 (GRCm39)	N94Y	probably damaging	Het
Tsga10	C	T	1: 37,874,229 (GRCm39)	R190H	unknown	Het
Zfhx3	T	C	8: 109,678,276 (GRCm39)	F3109L	probably benign	Het
Zfhx4	A	G	3: 5,307,170 (GRCm39)	Y132C	probably damaging	Het
Zfp521	T	C	18: 13,977,413 (GRCm39)	E1000G	probably damaging	Het

Other mutations in Trav5-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4620:Trav5-4	UTSW	14	53,941,853 (GRCm39)	missense	probably benign	0.09
R7070:Trav5-4	UTSW	14	53,941,912 (GRCm39)	missense	possibly damaging	0.95
R7911:Trav5-4	UTSW	14	53,941,908 (GRCm39)	missense	probably benign	0.00
R8401:Trav5-4	UTSW	14	53,941,750 (GRCm39)	missense	probably benign	0.11
R9671:Trav5-4	UTSW	14	53,941,816 (GRCm39)	missense	possibly damaging	0.48
Z1088:Trav5-4	UTSW	14	53,941,696 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTTCTGCATAGGGATGAGCCAAG -3'
(R):5'- GCAAATTCTGCCCTGGAAGG -3'

Sequencing Primer
(F):5'- AGGTGGAGCAGCTTCCTTC -3'
(R):5'- CTGGAAGGCCTGTGACACAG -3'

Posted On

2019-10-24