Mutagenetix > Incidental Mutations

Incidental Mutation 'R3794:Tcrg-V5'

473627

Institutional Source

Beutler Lab

Gene Symbol

Tcrg-V5

Ensembl Gene

ENSMUSG00000076747

Gene Name

T cell receptor gamma, variable 5

Synonyms

MMRRC Submission

040756-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R3794 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19192433-19192725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19192524 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 47 (H47L)

Ref Sequence

ENSEMBL: ENSMUSP00000143714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103555] [ENSMUST00000103556] [ENSMUST00000198330] [ENSMUST00000199017]

Predicted Effect

probably benign
Transcript: ENSMUST00000103555

SMART Domains

Protein: ENSMUSP00000100336
Gene: ENSMUSG00000076746

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	40	134	2.94e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103556
AA Change: H31L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100337
Gene: ENSMUSG00000076747
AA Change: H31L

Domain	Start	End	E-Value	Type
IGv	18	95	3.3e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197661

Predicted Effect

probably benign
Transcript: ENSMUST00000198330

SMART Domains

Protein: ENSMUSP00000142811
Gene: ENSMUSG00000076746

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	121	1.2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199017
AA Change: H47L

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143714
Gene: ENSMUSG00000076747
AA Change: H47L

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
IGv	34	111	1.4e-15	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933403O08Rik	T	G	X: 112,240,678	M1R	probably null	Het
Adcy6	C	T	15: 98,598,943	V482I	probably damaging	Het
Adgrv1	T	A	13: 81,283,367	M1L	probably damaging	Het
Ceacam13	A	G	7: 18,013,415	*264W	probably null	Het
D430042O09Rik	A	G	7: 125,820,089	N476S	probably benign	Het
Dennd5b	A	T	6: 149,101,217	D31E	possibly damaging	Het
Dip2c	T	C	13: 9,604,561	V706A	probably damaging	Het
Enpp3	T	C	10: 24,831,732		probably null	Het
Exoc4	T	G	6: 33,475,997	V474G	probably benign	Het
F2rl1	A	G	13: 95,513,211	Y388H	unknown	Het
Fasl	T	C	1: 161,781,737	R17G	probably benign	Het
Htr1a	G	A	13: 105,444,344	V31M	possibly damaging	Het
Inpp4b	T	C	8: 82,033,216	V445A	probably damaging	Het
Itih3	T	C	14: 30,918,394	Y319C	probably damaging	Het
Kmt2d	T	C	15: 98,837,359		probably benign	Het
Mobp	A	T	9: 120,167,967	K55*	probably null	Het
Ndufaf5	T	A	2: 140,202,923	M279K	possibly damaging	Het
Nlrc3	T	C	16: 3,947,875	I1057V	probably benign	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Olfr129	A	G	17: 38,054,895	Y224H	probably damaging	Het
Piezo2	C	T	18: 63,081,793	R1257Q	probably damaging	Het
Pigv	A	G	4: 133,665,191	S223P	possibly damaging	Het
Pkdcc	A	G	17: 83,223,953	T464A	probably damaging	Het
Polr2k	A	G	15: 36,175,047	I18V	probably damaging	Het
Pon3	A	G	6: 5,221,578	Y351H	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scaf8	A	G	17: 3,190,249	E632G	probably damaging	Het
Smurf1	A	G	5: 144,901,175		probably null	Het
Tln1	G	T	4: 43,536,295	A1999D	probably damaging	Het
Ttn	C	T	2: 76,942,437	V2405I	possibly damaging	Het
Vps13d	G	A	4: 145,085,437		probably benign	Het
Xrcc1	A	G	7: 24,570,560	T469A	probably benign	Het
Zfp287	G	T	11: 62,714,244	H612Q	probably damaging	Het
Zfp352	C	T	4: 90,225,149	H509Y	probably damaging	Het

Other mutations in Tcrg-V5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0016:Tcrg-V5	UTSW	13	19192719	nonsense	probably null
R4788:Tcrg-V5	UTSW	13	19192554	missense	probably benign	0.35
R5099:Tcrg-V5	UTSW	13	19192716	missense	probably damaging	0.99
R5397:Tcrg-V5	UTSW	13	19192558	missense	possibly damaging	0.85
R5735:Tcrg-V5	UTSW	13	19192525	missense	probably benign	0.18
R7848:Tcrg-V5	UTSW	13	19192679	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14