Mutagenetix > Incidental Mutation

Incidental Mutation 'R5599:Tcstv2c'

438956

Institutional Source

Beutler Lab

Gene Symbol

Tcstv2c

Ensembl Gene

ENSMUSG00000096323

Gene Name

two cell stage variable group member 2C

Synonyms

Gm20767

MMRRC Submission

043151-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R5599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120601782-120616871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120616458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 99 (Q99P)

Ref Sequence

ENSEMBL: ENSMUSP00000152988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179071] [ENSMUST00000225683]

AlphaFold

O70517

Predicted Effect

probably damaging
Transcript: ENSMUST00000179071
AA Change: Q99P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137504
Gene: ENSMUSG00000096323
AA Change: Q99P

Domain	Start	End	E-Value	Type
Pfam:DUF1438	7	155	3.2e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000225683
AA Change: Q99P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	A	7: 78,946,746 (GRCm39)		probably null	Het
Agpat3	T	C	10: 78,110,103 (GRCm39)	D282G	probably benign	Het
Ankhd1	G	A	18: 36,693,860 (GRCm39)	A24T	probably damaging	Het
Cracdl	T	C	1: 37,652,424 (GRCm39)	N1128D	possibly damaging	Het
Cry1	A	T	10: 84,980,114 (GRCm39)	M398K	probably benign	Het
Dpp10	A	G	1: 123,832,803 (GRCm39)	I47T	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,375 (GRCm39)	D329N	probably benign	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gxylt1	CTCATCCGGGTCAT	CTCAT	15: 93,152,198 (GRCm39)		probably benign	Het
Hnrnpul1	G	A	7: 25,454,097 (GRCm39)		probably benign	Het
Lbx1	T	A	19: 45,223,519 (GRCm39)	S50C	probably damaging	Het
Lims2	A	G	18: 32,090,324 (GRCm39)	N183S	probably benign	Het
Lrp1	T	C	10: 127,429,738 (GRCm39)	N444S	probably damaging	Het
Mast4	A	T	13: 102,873,987 (GRCm39)	C1626S	probably damaging	Het
Mgat5	A	G	1: 127,325,303 (GRCm39)	Y390C	probably damaging	Het
Nf2	T	C	11: 4,732,269 (GRCm39)	E553G	probably damaging	Het
Nfatc4	A	T	14: 56,069,733 (GRCm39)	T704S	probably benign	Het
Or4c3d	A	G	2: 89,882,563 (GRCm39)	V35A	probably benign	Het
Or56a3	T	C	7: 104,735,757 (GRCm39)		probably null	Het
Or7g29	T	G	9: 19,286,925 (GRCm39)	N84T	possibly damaging	Het
Or9m1b	T	G	2: 87,836,349 (GRCm39)	I258L	probably benign	Het
Plekha7	T	A	7: 115,776,117 (GRCm39)		probably null	Het
Polr1a	T	C	6: 71,944,346 (GRCm39)	M1271T	possibly damaging	Het
Ppip5k2	A	G	1: 97,668,323 (GRCm39)	M595T	probably damaging	Het
Ppox	A	T	1: 171,105,033 (GRCm39)	V412D	probably damaging	Het
Ppp1r12b	A	G	1: 134,793,645 (GRCm39)	V573A	probably benign	Het
Prkcb	T	C	7: 122,181,701 (GRCm39)	Y430H	probably benign	Het
Psmd6	A	C	14: 14,120,144 (GRCm38)	M65R	probably benign	Het
Rbm12	G	A	2: 155,938,713 (GRCm39)	R520*	probably null	Het
Rin3	T	C	12: 102,356,188 (GRCm39)	F830L	probably damaging	Het
Sema4b	A	G	7: 79,863,039 (GRCm39)	K104R	probably benign	Het
Slitrk1	T	C	14: 109,149,244 (GRCm39)	D489G	probably benign	Het
Spef2	T	C	15: 9,729,789 (GRCm39)	T110A	possibly damaging	Het
Sult2a6	T	A	7: 13,988,629 (GRCm39)	K44*	probably null	Het
Tasor	A	G	14: 27,201,886 (GRCm39)	N1427D	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tnxb	G	T	17: 34,909,176 (GRCm39)	G1445V	probably damaging	Het
Tnxb	T	C	17: 34,909,179 (GRCm39)	V1569A	probably benign	Het
Zcchc2	A	G	1: 105,959,880 (GRCm39)	D1163G	probably damaging	Het
Zfp365	C	T	10: 67,745,197 (GRCm39)	E194K	probably damaging	Het

Other mutations in Tcstv2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1004:Tcstv2c	UTSW	13	120,616,558 (GRCm39)	missense	probably benign	0.00
R3753:Tcstv2c	UTSW	13	120,616,167 (GRCm39)	missense	possibly damaging	0.56
R3930:Tcstv2c	UTSW	13	120,616,368 (GRCm39)	missense	probably damaging	0.98
R4873:Tcstv2c	UTSW	13	120,616,206 (GRCm39)	missense	probably damaging	0.98
R4875:Tcstv2c	UTSW	13	120,616,206 (GRCm39)	missense	probably damaging	0.98
R5020:Tcstv2c	UTSW	13	120,616,652 (GRCm39)	missense	possibly damaging	0.85
R5802:Tcstv2c	UTSW	13	120,616,449 (GRCm39)	missense	possibly damaging	0.93
R6469:Tcstv2c	UTSW	13	120,616,349 (GRCm39)	missense	probably damaging	1.00
R6535:Tcstv2c	UTSW	13	120,616,190 (GRCm39)	missense	probably damaging	0.98
R7543:Tcstv2c	UTSW	13	120,616,290 (GRCm39)	missense	probably damaging	0.99
R8974:Tcstv2c	UTSW	13	120,616,486 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- AGAACATGCACTGCCCAATG -3'
(R):5'- AGCCTAGGTGCCTGGAATTATC -3'

Sequencing Primer
(F):5'- CCTGAGTACAAGGTGTTCCAAGTC -3'
(R):5'- CCTAGGTGCCTGGAATTATCAGAAAC -3'

Posted On

2016-10-26