Mutagenetix > Incidental Mutation

Incidental Mutation 'R3792:Tcstv7b'

272604

Institutional Source

Beutler Lab

Gene Symbol

Tcstv7b

Ensembl Gene

ENSMUSG00000063846

Gene Name

Tcstv family member 7B

Synonyms

Gm21731

Accession Numbers

Essential gene?

Not available question?

Stock #

R3792 (G1)

Quality Score

128

Status

Not validated

Chromosome

Chromosomal Location

120700647-120702903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120702467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 88 (V88F)

Ref Sequence

ENSEMBL: ENSMUSP00000153383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079524] [ENSMUST00000223770]

AlphaFold

A0A286YDE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079524
AA Change: V88F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137283
Gene: ENSMUSG00000063846
AA Change: V88F

Domain	Start	End	E-Value	Type
Pfam:DUF1438	1	150	3.5e-90	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000223770
AA Change: V88F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	A	G	X: 80,464,423 (GRCm39)	V428A	probably benign	Het
Aanat	T	C	11: 116,487,057 (GRCm39)	L88P	probably damaging	Het
Arhgap5	A	T	12: 52,566,671 (GRCm39)	N1214I	probably benign	Het
BC034090	A	T	1: 155,117,543 (GRCm39)	S192T	probably damaging	Het
Bco1	G	A	8: 117,857,415 (GRCm39)	V461I	possibly damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Cripto	C	T	9: 110,772,258 (GRCm39)	R46Q	probably benign	Het
Cubn	G	A	2: 13,432,725 (GRCm39)	R1199C	probably damaging	Het
Dcaf12l1	T	C	X: 43,877,313 (GRCm39)	N495S	possibly damaging	Het
Dop1b	C	A	16: 93,568,734 (GRCm39)	Q1599K	possibly damaging	Het
Dyrk1a	C	A	16: 94,485,933 (GRCm39)	L427I	probably benign	Het
Esp16	T	C	17: 39,848,739 (GRCm39)	I11T	possibly damaging	Het
Esyt3	A	T	9: 99,197,334 (GRCm39)	F832Y	possibly damaging	Het
F8	A	T	X: 74,328,971 (GRCm39)		probably null	Het
Fam135a	T	C	1: 24,067,392 (GRCm39)	Y259C	probably benign	Het
Fbxo38	T	C	18: 62,666,533 (GRCm39)		probably null	Het
Fbxo43	T	C	15: 36,163,005 (GRCm39)	I67M	probably benign	Het
Gcfc2	G	T	6: 81,907,748 (GRCm39)	C154F	probably benign	Het
Hipk2	C	T	6: 38,675,491 (GRCm39)	R1029H	probably damaging	Het
Ilk	G	A	7: 105,391,294 (GRCm39)	W73*	probably null	Het
Ism1	T	C	2: 139,582,173 (GRCm39)	S162P	probably damaging	Het
Itpkb	T	A	1: 180,160,738 (GRCm39)	L288Q	possibly damaging	Het
Itpr2	C	A	6: 146,316,852 (GRCm39)	K306N	probably damaging	Het
Kdm2a	C	T	19: 4,374,540 (GRCm39)	E864K	possibly damaging	Het
Kdm4b	G	A	17: 56,662,944 (GRCm39)	V172M	probably damaging	Het
Kyat3	A	T	3: 142,443,605 (GRCm39)	K406M	probably null	Het
Lipe	T	A	7: 25,097,045 (GRCm39)	K299N	possibly damaging	Het
Lrrc2	T	A	9: 110,795,585 (GRCm39)	C123*	probably null	Het
Mptx2	T	A	1: 173,102,240 (GRCm39)	I150F	probably damaging	Het
Mroh2b	G	T	15: 4,953,102 (GRCm39)	W612L	probably damaging	Het
Mucl2	T	C	15: 103,928,692 (GRCm39)	T27A	possibly damaging	Het
Nfx1	T	A	4: 41,004,357 (GRCm39)	C709*	probably null	Het
Oprm1	T	C	10: 6,789,544 (GRCm39)	S390P	probably benign	Het
Or2m12	A	G	16: 19,104,696 (GRCm39)	S266P	possibly damaging	Het
Or51v8	A	T	7: 103,319,353 (GRCm39)	I295N	probably damaging	Het
Pcdhb14	T	C	18: 37,582,715 (GRCm39)	L607P	probably damaging	Het
Rap1gds1	A	T	3: 138,671,721 (GRCm39)	I133N	probably damaging	Het
Rasl10a	T	C	11: 5,009,461 (GRCm39)	L83S	probably damaging	Het
Satb2	C	T	1: 56,884,779 (GRCm39)	V382M	probably damaging	Het
Sh3gl1	T	C	17: 56,325,949 (GRCm39)	K160R	probably damaging	Het
Sirt4	T	C	5: 115,618,351 (GRCm39)	D241G	probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Spef2	A	G	15: 9,704,622 (GRCm39)	I454T	probably damaging	Het
Stag3	A	G	5: 138,296,611 (GRCm39)	K490E	probably benign	Het
Tctn3	T	C	19: 40,600,155 (GRCm39)	K95R	probably benign	Het
Trp53bp1	T	C	2: 121,030,810 (GRCm39)	I1784V	probably damaging	Het
Ttc21a	A	T	9: 119,783,231 (GRCm39)	E511V	probably damaging	Het
Ttn	A	G	2: 76,542,232 (GRCm39)	F25258L	probably damaging	Het
Ttn	A	C	2: 76,639,290 (GRCm39)	C13828G	probably damaging	Het
Vmn1r210	T	A	13: 23,011,573 (GRCm39)	M238L	probably damaging	Het
Vmn1r38	A	G	6: 66,753,891 (GRCm39)	I75T	probably benign	Het
Vmn2r84	T	A	10: 130,221,669 (GRCm39)	*850C	probably null	Het
Vwa7	T	C	17: 35,244,135 (GRCm39)		probably null	Het
Zfp128	T	A	7: 12,618,659 (GRCm39)	D52E	probably damaging	Het
Zfp618	T	C	4: 63,033,728 (GRCm39)		probably benign	Het
Zkscan2	T	A	7: 123,084,225 (GRCm39)	E633V	possibly damaging	Het

Other mutations in Tcstv7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1600:Tcstv7b	UTSW	13	120,702,369 (GRCm39)	missense	probably benign	0.00
R4674:Tcstv7b	UTSW	13	120,702,362 (GRCm39)	missense	probably damaging	0.99
R4675:Tcstv7b	UTSW	13	120,702,362 (GRCm39)	missense	probably damaging	0.99
R4925:Tcstv7b	UTSW	13	120,702,384 (GRCm39)	missense	probably damaging	1.00
R6538:Tcstv7b	UTSW	13	120,702,468 (GRCm39)	missense	possibly damaging	0.72
R7186:Tcstv7b	UTSW	13	120,702,587 (GRCm39)	missense	probably damaging	0.97
R7541:Tcstv7b	UTSW	13	120,702,515 (GRCm39)	missense	probably benign
R7633:Tcstv7b	UTSW	13	120,702,376 (GRCm39)	nonsense	probably null
R8669:Tcstv7b	UTSW	13	120,702,338 (GRCm39)	missense	probably benign
R8997:Tcstv7b	UTSW	13	120,702,515 (GRCm39)	missense	probably benign
R9648:Tcstv7b	UTSW	13	120,702,495 (GRCm39)	missense	possibly damaging	0.90
Z1177:Tcstv7b	UTSW	13	120,702,708 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGATATTCCAGGTCTGAGCCAC -3'
(R):5'- TCCACTTCTTCTGGCCAAAAG -3'

Sequencing Primer
(F):5'- CAGGTCTGAGCCACAGTGTTTC -3'
(R):5'- CCATAAGCAGCAGCCTAGGTG -3'

Posted On

2015-03-25