Mutagenetix > Incidental Mutation

Incidental Mutation 'R6928:Trav13d-4'

539862

Institutional Source

Beutler Lab

Gene Symbol

Trav13d-4

Ensembl Gene

ENSMUSG00000096329

Gene Name

T cell receptor alpha variable 13D-4

Synonyms

Gm17006

MMRRC Submission

045045-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R6928 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53310220-53310731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53310618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 53 (T53I)

Ref Sequence

ENSEMBL: ENSMUSP00000100384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103607] [ENSMUST00000196079]

AlphaFold

A0A075B618

Predicted Effect

probably damaging
Transcript: ENSMUST00000103607
AA Change: T53I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100384
Gene: ENSMUSG00000096329
AA Change: T53I

Domain	Start	End	E-Value	Type
IG	8	88	3.63e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000196079
AA Change: T73I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143340
Gene: ENSMUSG00000096329
AA Change: T73I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGv	38	109	1.2e-11	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.5%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,456,257 (GRCm39)	D215G	possibly damaging	Het
Asb3	A	T	11: 30,948,326 (GRCm39)	M40L	probably damaging	Het
Aspg	G	A	12: 112,093,123 (GRCm39)	V547M	possibly damaging	Het
Aspm	T	A	1: 139,407,944 (GRCm39)	L2277*	probably null	Het
Atp7b	A	G	8: 22,484,828 (GRCm39)	S1295P	probably benign	Het
Cdca2	A	G	14: 67,943,193 (GRCm39)	S199P	probably damaging	Het
Cdh1	A	G	8: 107,387,642 (GRCm39)	E514G	possibly damaging	Het
Cenpk	G	T	13: 104,365,500 (GRCm39)		probably benign	Het
Col6a5	C	A	9: 105,817,118 (GRCm39)	V398L	unknown	Het
Colec10	A	T	15: 54,326,002 (GRCm39)	K277N	probably damaging	Het
Cryzl2	T	G	1: 157,298,357 (GRCm39)	S249A	probably benign	Het
Cspg4	T	A	9: 56,805,164 (GRCm39)	Y1992N	possibly damaging	Het
Drd3	G	T	16: 43,641,683 (GRCm39)	R333L	probably benign	Het
Espl1	C	T	15: 102,207,342 (GRCm39)	R269C	probably benign	Het
Esr2	C	T	12: 76,212,252 (GRCm39)	C188Y	probably damaging	Het
Focad	A	G	4: 88,267,112 (GRCm39)	D1041G	unknown	Het
Frem3	T	C	8: 81,337,911 (GRCm39)	F68S	possibly damaging	Het
Gapdh	A	G	6: 125,139,634 (GRCm39)	V212A	probably damaging	Het
Gzmb	T	C	14: 56,497,734 (GRCm39)	K169E	probably benign	Het
Hexd	T	A	11: 121,102,880 (GRCm39)	F33I	possibly damaging	Het
Hsd3b6	T	C	3: 98,718,269 (GRCm39)	I32V	probably benign	Het
Jcad	T	C	18: 4,673,372 (GRCm39)	V378A	probably benign	Het
Kcnmb2	T	C	3: 32,253,190 (GRCm39)	S177P	probably benign	Het
Lrriq1	A	T	10: 103,050,800 (GRCm39)	S651T	possibly damaging	Het
Map3k2	T	C	18: 32,340,593 (GRCm39)		probably null	Het
Mib1	T	G	18: 10,802,282 (GRCm39)	S870A	probably benign	Het
Moap1	T	A	12: 102,708,871 (GRCm39)	N226I	probably damaging	Het
Moxd1	T	A	10: 24,176,186 (GRCm39)	N547K	probably damaging	Het
Mtmr9	A	G	14: 63,781,042 (GRCm39)	V16A	probably benign	Het
Nme1	T	C	11: 93,850,229 (GRCm39)	Y151C	probably damaging	Het
Nwd1	T	C	8: 73,408,653 (GRCm39)	F879L	probably benign	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or52ac1	A	T	7: 104,245,796 (GRCm39)	Y197*	probably null	Het
Or5ac25	C	A	16: 59,181,826 (GRCm39)	G252C	probably damaging	Het
Or5b102	A	T	19: 13,041,348 (GRCm39)	H191L	probably benign	Het
Or5b99	A	G	19: 12,977,202 (GRCm39)	N284S	probably damaging	Het
Or8d23	T	C	9: 38,841,862 (GRCm39)	Y132H	probably damaging	Het
Or8g21	T	C	9: 38,905,928 (GRCm39)	M268V	probably benign	Het
Pcdhb21	A	G	18: 37,647,474 (GRCm39)	E201G	probably damaging	Het
Plscr1	T	C	9: 92,152,004 (GRCm39)	V301A	possibly damaging	Het
Psg28	A	T	7: 18,157,003 (GRCm39)	S411T	possibly damaging	Het
Rif1	T	C	2: 51,985,973 (GRCm39)	W653R	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rtn4	A	G	11: 29,656,791 (GRCm39)	E199G	possibly damaging	Het
Sgpp1	T	C	12: 75,763,344 (GRCm39)	Y279C	probably damaging	Het
Slc2a13	A	G	15: 91,160,382 (GRCm39)	I524T	probably damaging	Het
Speer4a2	A	G	5: 26,290,586 (GRCm39)		probably null	Het
Spg11	C	T	2: 121,900,385 (GRCm39)	V1556I	probably benign	Het
Spopfm1	T	A	3: 94,173,855 (GRCm39)	C288S	probably benign	Het
Srebf2	C	T	15: 82,087,924 (GRCm39)	R215*	probably null	Het
Tdpoz8	G	A	3: 92,981,267 (GRCm39)	C95Y	probably damaging	Het
Tmem19	T	C	10: 115,183,179 (GRCm39)	N147S	possibly damaging	Het
Tpr	T	C	1: 150,284,536 (GRCm39)	S408P	possibly damaging	Het
Trf	T	A	9: 103,099,307 (GRCm39)	R168W	possibly damaging	Het
Trim11	A	G	11: 58,879,669 (GRCm39)	K273R	probably damaging	Het
Tsacc	T	A	3: 88,190,247 (GRCm39)	M68L	probably benign	Het
Ttn	T	A	2: 76,584,869 (GRCm39)	M22110L	probably benign	Het
Zfp160	G	T	17: 21,261,724 (GRCm39)	G104V	probably benign	Het
Zfp582	T	C	7: 6,357,266 (GRCm39)	Y360H	probably damaging	Het
Zranb1	G	A	7: 132,568,323 (GRCm39)	R301H	possibly damaging	Het

Other mutations in Trav13d-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03235:Trav13d-4	APN	14	53,995,298 (GRCm39)	missense	probably benign	0.04
PIT4382001:Trav13d-4	UTSW	14	53,995,238 (GRCm39)	missense	probably benign	0.34
R6372:Trav13d-4	UTSW	14	53,995,118 (GRCm39)	missense	probably damaging	0.99
R7714:Trav13d-4	UTSW	14	53,995,355 (GRCm39)	missense	probably damaging	1.00
R8070:Trav13d-4	UTSW	14	53,995,249 (GRCm39)	missense	possibly damaging	0.47
R8684:Trav13d-4	UTSW	14	53,310,266 (GRCm39)	missense	probably damaging	0.99
R8877:Trav13d-4	UTSW	14	53,995,350 (GRCm39)	missense	probably damaging	0.99
R9720:Trav13d-4	UTSW	14	53,995,286 (GRCm39)	missense	probably benign	0.03
Z1088:Trav13d-4	UTSW	14	53,310,627 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGCAGTGACAGCCATCTG -3'
(R):5'- GATGTCTTGTGACTGCAAAGG -3'

Sequencing Primer
(F):5'- CTCTGTTTCTAATCAGGGGTGAAAG -3'
(R):5'- TTGTGACTGCAAAGGGCCAC -3'

Posted On

2018-11-06