Mutagenetix > Incidental Mutation

Incidental Mutation 'R7547:Trav21-dv12'

584275

Institutional Source

Beutler Lab

Gene Symbol

Trav21-dv12

Ensembl Gene

ENSMUSG00000076863

Gene Name

T cell receptor alpha variable 21-DV12

Synonyms

Gm13892

MMRRC Submission

045618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54113473-54114209 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54114072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

Ref Sequence

ENSEMBL: ENSMUSP00000137998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103676] [ENSMUST00000180938] [ENSMUST00000187163]

AlphaFold

A0A075B6C4

Predicted Effect

probably benign
Transcript: ENSMUST00000103676

SMART Domains

Protein: ENSMUSP00000100453
Gene: ENSMUSG00000076864

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ig	26	112	6.7e-7	PFAM
Pfam:V-set	26	112	1.6e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180938
AA Change: V64A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137998
Gene: ENSMUSG00000076863
AA Change: V64A

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Pfam:V-set	18	108	2.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187163

SMART Domains

Protein: ENSMUSP00000139783
Gene: ENSMUSG00000076864

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG_like	37	110	6.4e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,109,269 (GRCm39)	D146E	probably benign	Het
Adgrl1	C	T	8: 84,665,513 (GRCm39)	A1400V	probably benign	Het
Ank2	A	G	3: 126,738,852 (GRCm39)	V2344A	unknown	Het
Anxa2r2	A	T	13: 120,488,457 (GRCm39)	F31I	probably damaging	Het
Aplnr	A	T	2: 84,967,521 (GRCm39)	D182V	probably damaging	Het
Asb4	C	T	6: 5,398,350 (GRCm39)	P105L	probably damaging	Het
Ate1	C	A	7: 130,106,539 (GRCm39)	R274I	probably benign	Het
Ccdc43	A	G	11: 102,582,948 (GRCm39)	V92A	probably benign	Het
Cfap69	T	A	5: 5,654,290 (GRCm39)	N548I	possibly damaging	Het
Clpb	A	G	7: 101,313,503 (GRCm39)		probably null	Het
Ctnnal1	G	A	4: 56,817,032 (GRCm39)	R597C	probably damaging	Het
Dchs2	A	G	3: 83,263,434 (GRCm39)	K3234R	probably damaging	Het
Dnah7a	T	A	1: 53,702,996 (GRCm39)	K151N	probably benign	Het
Dnah7b	T	A	1: 46,253,573 (GRCm39)	I1826K	possibly damaging	Het
Dnttip1	A	G	2: 164,609,799 (GRCm39)	K289E	probably benign	Het
Eppk1	G	T	15: 75,991,740 (GRCm39)	Q1714K	probably benign	Het
Exoc4	A	G	6: 33,816,056 (GRCm39)	D674G	possibly damaging	Het
Galnt7	A	T	8: 58,036,996 (GRCm39)	V131D	possibly damaging	Het
Glg1	C	T	8: 111,914,393 (GRCm39)	V464M	possibly damaging	Het
Hlcs	G	T	16: 94,032,031 (GRCm39)	S444*	probably null	Het
Larp1	G	T	11: 57,943,405 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,335,410 (GRCm39)	Y4386C	probably damaging	Het
Mapt	A	G	11: 104,213,138 (GRCm39)		probably null	Het
Neb	C	T	2: 52,172,637 (GRCm39)	V1557I	probably benign	Het
Nid2	A	G	14: 19,847,345 (GRCm39)	T953A	probably benign	Het
Or5b105	T	C	19: 13,080,407 (GRCm39)	D87G	not run	Het
Pax3	G	A	1: 78,099,231 (GRCm39)	Q319*	probably null	Het
Ppp2r1b	T	A	9: 50,773,762 (GRCm39)	S212R	probably benign	Het
Prss29	T	C	17: 25,539,896 (GRCm39)	L98P	probably damaging	Het
Ptch2	T	G	4: 116,967,161 (GRCm39)	L646R	probably damaging	Het
Rasa2	T	A	9: 96,493,474 (GRCm39)	E70V	probably damaging	Het
Serf2	A	G	2: 121,281,256 (GRCm39)	N65S	possibly damaging	Het
Serpinb6b	G	A	13: 33,158,907 (GRCm39)	G155D	probably benign	Het
Serpinb6c	A	G	13: 34,077,875 (GRCm39)	I165T	possibly damaging	Het
Skint5	A	T	4: 113,483,785 (GRCm39)	V949E	unknown	Het
Slc11a2	A	G	15: 100,295,651 (GRCm39)	I490T	possibly damaging	Het
Slx4	T	C	16: 3,803,436 (GRCm39)	D1126G	probably benign	Het
Tent4a	G	T	13: 69,681,823 (GRCm39)	P160Q	probably benign	Het
Tln1	G	T	4: 43,545,206 (GRCm39)	A1003E	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
U2surp	T	C	9: 95,361,402 (GRCm39)	E620G	possibly damaging	Het
Usp3	T	C	9: 66,449,906 (GRCm39)	N179S	possibly damaging	Het
Vps13d	T	C	4: 144,784,108 (GRCm39)	T3889A		Het
Vps35	C	T	8: 85,989,999 (GRCm39)	V670M	probably damaging	Het
Zfp626	T	C	7: 27,517,828 (GRCm39)	S270P	possibly damaging	Het
Zfp955a	C	T	17: 33,461,797 (GRCm39)	V112M	probably benign	Het
Zranb2	T	C	3: 157,246,806 (GRCm39)	S165P	possibly damaging	Het

Other mutations in Trav21-dv12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Trav21-dv12	APN	14	54,114,107 (GRCm39)	missense	probably benign	0.36
IGL01599:Trav21-dv12	APN	14	54,114,188 (GRCm39)	missense	probably damaging	1.00
IGL02185:Trav21-dv12	APN	14	54,113,955 (GRCm39)	missense	probably benign	0.00
IGL03342:Trav21-dv12	APN	14	54,113,501 (GRCm39)	missense	unknown
R4819:Trav21-dv12	UTSW	14	54,114,070 (GRCm39)	nonsense	probably null
R6460:Trav21-dv12	UTSW	14	54,114,191 (GRCm39)	missense	probably benign	0.00
R7327:Trav21-dv12	UTSW	14	54,113,514 (GRCm39)	critical splice donor site	probably benign
R7398:Trav21-dv12	UTSW	14	54,114,162 (GRCm39)	missense	probably benign	0.02
R7592:Trav21-dv12	UTSW	14	54,113,997 (GRCm39)	missense	probably damaging	1.00
R8059:Trav21-dv12	UTSW	14	54,114,178 (GRCm39)	missense	probably damaging	1.00
R8295:Trav21-dv12	UTSW	14	54,113,510 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGTCCAAAGCTTGACTGTTG -3'
(R):5'- TCTTGAAATGGATGCCTCTGC -3'

Sequencing Primer
(F):5'- CCAAAGCTTGACTGTTGTTTCTTAAC -3'
(R):5'- CCCCATCGGGCAGATTTTG -3'

Posted On

2019-10-17