Mutagenetix > Incidental Mutation

Incidental Mutation 'R4197:Trav13n-4'

318609

Institutional Source

Beutler Lab

Gene Symbol

Trav13n-4

Ensembl Gene

ENSMUSG00000076823

Gene Name

T cell receptor alpha variable 13N-4

Synonyms

Gm10907, ENSMUSG00000072517

MMRRC Submission

041028-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4197 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53599825-53601563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53601378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 49 (T49I)

Ref Sequence

ENSEMBL: ENSMUSP00000143372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103634] [ENSMUST00000196105]

AlphaFold

A0A075B635

Predicted Effect

probably benign
Transcript: ENSMUST00000103634
AA Change: T29I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100411
Gene: ENSMUSG00000076823
AA Change: T29I

Domain	Start	End	E-Value	Type
IGv	18	89	2.89e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196105
AA Change: T49I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143372
Gene: ENSMUSG00000076823
AA Change: T49I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	38	109	1.2e-11	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccno	G	A	13: 113,125,603 (GRCm39)	C189Y	probably damaging	Het
Cd36	T	A	5: 18,018,086 (GRCm39)	D209V	probably damaging	Het
Depdc5	T	A	5: 33,148,547 (GRCm39)	L1561Q	possibly damaging	Het
Dhx34	G	T	7: 15,937,651 (GRCm39)	H777N	probably damaging	Het
Dlat	T	C	9: 50,547,826 (GRCm39)	T610A	probably damaging	Het
Efcab15	G	A	11: 103,091,966 (GRCm39)	S94L	probably benign	Het
Fip1l1	T	A	5: 74,696,397 (GRCm39)	D19E	probably damaging	Het
Gm5699	T	A	1: 31,037,726 (GRCm39)		noncoding transcript	Het
Grin2a	A	C	16: 9,579,831 (GRCm39)	F144C	probably damaging	Het
Klhl18	A	T	9: 110,259,012 (GRCm39)		probably null	Het
Klhl31	T	C	9: 77,558,091 (GRCm39)	V269A	probably damaging	Het
Lypd10	A	G	7: 24,413,119 (GRCm39)	D146G	probably benign	Het
Mmel1	T	C	4: 154,977,761 (GRCm39)	I594T	probably damaging	Het
Myo9a	T	A	9: 59,802,149 (GRCm39)	S1913T	probably benign	Het
Or6a2	T	C	7: 106,600,245 (GRCm39)	D274G	probably damaging	Het
Pcdhb14	A	G	18: 37,581,358 (GRCm39)	K155E	probably benign	Het
Pdcd10	A	T	3: 75,424,899 (GRCm39)	N189K	possibly damaging	Het
Pde3b	T	G	7: 114,130,107 (GRCm39)		probably benign	Het
Plxnb2	T	C	15: 89,041,221 (GRCm39)	N1775S	probably damaging	Het
Polr2a	T	C	11: 69,626,162 (GRCm39)	S1625G	unknown	Het
Ptpn21	G	T	12: 98,646,397 (GRCm39)	H1020Q	probably damaging	Het
Rad23b	C	T	4: 55,385,455 (GRCm39)	P331S	probably damaging	Het
Scel	A	T	14: 103,836,836 (GRCm39)	N475Y	probably damaging	Het
Sema5a	A	G	15: 32,619,064 (GRCm39)	T531A	probably benign	Het
Sf3b3	A	T	8: 111,548,197 (GRCm39)	L679Q	probably damaging	Het
Sipa1l3	A	T	7: 29,100,238 (GRCm39)	D10E	possibly damaging	Het
Slc44a4	G	A	17: 35,137,228 (GRCm39)	V84I	probably benign	Het
Slco5a1	G	T	1: 12,964,740 (GRCm39)	S512R	probably damaging	Het
Sv2c	A	T	13: 96,114,636 (GRCm39)	F517I	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tnfsf11	A	T	14: 78,521,752 (GRCm39)	D152E	probably benign	Het
Ttn	T	C	2: 76,716,422 (GRCm39)		probably benign	Het
Usp34	T	C	11: 23,394,189 (GRCm39)	S2261P	probably damaging	Het
Vmn2r87	G	A	10: 130,315,779 (GRCm39)	P96S	possibly damaging	Het
Xrcc6	A	G	15: 81,913,425 (GRCm39)	M353V	probably benign	Het

Other mutations in Trav13n-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Trav13n-4	APN	14	53,601,288 (GRCm39)	missense	probably benign	0.03
IGL00562:Trav13n-4	APN	14	53,601,423 (GRCm39)	missense	possibly damaging	0.94
IGL00563:Trav13n-4	APN	14	53,601,423 (GRCm39)	missense	possibly damaging	0.94
IGL01620:Trav13n-4	APN	14	53,601,473 (GRCm39)	missense	probably damaging	0.99
IGL01748:Trav13n-4	APN	14	53,601,470 (GRCm39)	missense	probably benign	0.15
IGL02327:Trav13n-4	APN	14	53,601,567 (GRCm39)	unclassified	probably benign
R5467:Trav13n-4	UTSW	14	53,601,303 (GRCm39)	missense	probably damaging	1.00
R6765:Trav13n-4	UTSW	14	53,601,557 (GRCm39)	missense	probably benign
R6845:Trav13n-4	UTSW	14	53,599,856 (GRCm39)	missense	probably damaging	1.00
R7339:Trav13n-4	UTSW	14	53,601,435 (GRCm39)	missense	probably benign	0.02
R8744:Trav13n-4	UTSW	14	53,601,399 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAGAAGTGTTCCTCTTTCTCC -3'
(R):5'- GATAAGTGCCTGAGTCTGTGATC -3'

Sequencing Primer
(F):5'- GCTGTCACCTGAATTTTTGATCTTAG -3'
(R):5'- CCTGAGTCTGTGATCTGGGAG -3'

Posted On

2015-06-10