Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02886:Trav3-3'

362999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav3-3

Ensembl Gene

ENSMUSG00000094828

Gene Name

T cell receptor alpha variable 3-3

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02886

Quality Score

Status

Chromosome

Chromosomal Location

53903462-53903963 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53903822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 47 (L47I)

Ref Sequence

ENSEMBL: ENSMUSP00000139346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000181768] [ENSMUST00000183835]

AlphaFold

Q5R1C3

Predicted Effect

probably benign
Transcript: ENSMUST00000181768
AA Change: L68I

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137883
Gene: ENSMUSG00000094828
AA Change: L68I

Domain	Start	End	E-Value	Type
IG	29	114	8.33e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183835
AA Change: L47I

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139346
Gene: ENSMUSG00000094828
AA Change: L47I

Domain	Start	End	E-Value	Type
Pfam:V-set	1	92	2.2e-17	PFAM
Pfam:Ig_2	3	92	8.3e-8	PFAM
Pfam:ig	16	92	1.7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197221

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,921,863 (GRCm39)	C1140S	probably damaging	Het
Abhd12b	T	C	12: 70,229,740 (GRCm39)	I238T	possibly damaging	Het
Adgrb3	T	C	1: 25,543,991 (GRCm39)		probably null	Het
Baz2b	A	T	2: 59,788,087 (GRCm39)		probably null	Het
Brwd3	T	C	X: 107,794,454 (GRCm39)	Y1410C	probably damaging	Het
Casp7	T	A	19: 56,421,775 (GRCm39)	I71N	probably damaging	Het
Cspg4	A	T	9: 56,804,672 (GRCm39)	I1828F	probably damaging	Het
Cul2	T	C	18: 3,426,920 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,986,700 (GRCm39)	D5409G	possibly damaging	Het
Fam187a	A	T	11: 102,777,380 (GRCm39)	T395S	probably benign	Het
Fcgr2b	A	G	1: 170,793,297 (GRCm39)	V244A	possibly damaging	Het
Fubp1	A	G	3: 151,926,392 (GRCm39)	E333G	possibly damaging	Het
Ganab	G	T	19: 8,888,391 (GRCm39)		probably benign	Het
Hpdl	A	G	4: 116,677,952 (GRCm39)	S170P	probably benign	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Klhl11	T	C	11: 100,363,047 (GRCm39)	S170G	possibly damaging	Het
Lrrc56	A	G	7: 140,777,090 (GRCm39)		probably benign	Het
Lrrd1	T	C	5: 3,901,534 (GRCm39)	V613A	probably benign	Het
Myo1e	T	C	9: 70,276,055 (GRCm39)	F757L	probably benign	Het
Myo5a	T	A	9: 75,059,169 (GRCm39)		probably benign	Het
Myocd	T	A	11: 65,069,569 (GRCm39)	D837V	probably damaging	Het
Naip6	T	C	13: 100,436,984 (GRCm39)	Q513R	possibly damaging	Het
Nol4l	A	G	2: 153,371,457 (GRCm39)	F76L	probably benign	Het
Or10ak7	T	C	4: 118,792,027 (GRCm39)	E6G	probably benign	Het
Or2b2b	T	A	13: 21,859,122 (GRCm39)		probably benign	Het
Or5b98	T	A	19: 12,931,882 (GRCm39)	S310T	probably benign	Het
Pck1	G	A	2: 172,996,649 (GRCm39)	E188K	probably benign	Het
Pdcd11	T	C	19: 47,102,064 (GRCm39)	V1083A	possibly damaging	Het
Primpol	G	A	8: 47,046,619 (GRCm39)	Q226*	probably null	Het
Rbm15	A	C	3: 107,233,611 (GRCm39)	V959G	probably benign	Het
Rorb	A	G	19: 18,954,943 (GRCm39)		probably null	Het
Spata9	T	C	13: 76,125,853 (GRCm39)	L112P	probably damaging	Het
Stk24	A	T	14: 121,529,527 (GRCm39)	L375Q	probably null	Het
Svip	A	G	7: 51,655,509 (GRCm39)	S11P	possibly damaging	Het
Taf13	T	C	3: 108,488,500 (GRCm39)		probably benign	Het
Tex30	T	C	1: 44,127,683 (GRCm39)	Y7C	probably damaging	Het
Tmem68	T	C	4: 3,569,361 (GRCm39)		probably benign	Het
Tnc	T	C	4: 63,918,344 (GRCm39)	E1189G	probably damaging	Het
Top2b	T	C	14: 16,365,688 (GRCm38)	S4P	possibly damaging	Het
Ttn	G	A	2: 76,733,557 (GRCm39)		probably benign	Het
Uroc1	A	G	6: 90,323,811 (GRCm39)		probably benign	Het

Other mutations in Trav3-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3923:Trav3-3	UTSW	14	53,903,828 (GRCm39)	missense	probably benign
R3926:Trav3-3	UTSW	14	53,903,828 (GRCm39)	missense	probably benign
R6989:Trav3-3	UTSW	14	53,903,802 (GRCm39)	missense	possibly damaging	0.95
Z1177:Trav3-3	UTSW	14	53,903,696 (GRCm39)	nonsense	probably null
Z1177:Trav3-3	UTSW	14	53,903,694 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18