Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02176:Tm9sf3'

283131

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tm9sf3

Ensembl Gene

ENSMUSG00000025016

Gene Name

transmembrane 9 superfamily member 3

Synonyms

2810031D16Rik, 1810073M23Rik, Smbp

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02176

Quality Score

Status

Chromosome

Chromosomal Location

41199283-41252436 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 41235076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025989]

AlphaFold

Q9ET30

Predicted Effect

probably benign
Transcript: ENSMUST00000025989

SMART Domains

Protein: ENSMUSP00000025989
Gene: ENSMUSG00000025016

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:EMP70	55	544	6.2e-164	PFAM
transmembrane domain	549	571	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	T	10: 20,846,815 (GRCm39)	R415L	probably benign	Het
Ankle1	C	A	8: 71,858,903 (GRCm39)	H45Q	probably damaging	Het
Anks1b	A	T	10: 89,878,530 (GRCm39)	H113L	probably damaging	Het
Arhgap33	T	A	7: 30,223,476 (GRCm39)	H851L	possibly damaging	Het
Atp12a	C	T	14: 56,624,636 (GRCm39)	S972L	probably damaging	Het
Atrip	T	C	9: 108,896,114 (GRCm39)	D301G	probably benign	Het
Bckdk	A	G	7: 127,505,545 (GRCm39)	T223A	probably benign	Het
C3	C	A	17: 57,533,337 (GRCm39)		probably benign	Het
C8g	A	G	2: 25,389,122 (GRCm39)	S154P	probably damaging	Het
Casz1	A	G	4: 149,019,076 (GRCm39)	D459G	probably damaging	Het
Cdca7	A	G	2: 72,314,988 (GRCm39)	T293A	probably damaging	Het
Cmya5	T	A	13: 93,226,658 (GRCm39)	D2810V	probably damaging	Het
CN725425	G	A	15: 91,130,024 (GRCm39)	V296I	probably benign	Het
Col17a1	A	G	19: 47,639,658 (GRCm39)	M1077T	probably benign	Het
Ddhd1	A	T	14: 45,854,057 (GRCm39)	H426Q	probably damaging	Het
Dpp6	C	T	5: 27,928,575 (GRCm39)	T799M	probably damaging	Het
Efs	C	T	14: 55,158,499 (GRCm39)	G53D	probably damaging	Het
Fer1l4	A	G	2: 155,890,371 (GRCm39)	V221A	probably benign	Het
Gabre	G	A	X: 71,318,259 (GRCm39)	Q17*	probably null	Het
Gpld1	T	C	13: 25,168,192 (GRCm39)		probably null	Het
Gpr107	T	A	2: 31,058,858 (GRCm39)	V116D	probably benign	Het
Huwe1	T	C	X: 150,686,964 (GRCm39)	S2283P	possibly damaging	Het
Ksr1	A	G	11: 78,911,617 (GRCm39)	S722P	probably benign	Het
Lmbrd2	A	G	15: 9,182,661 (GRCm39)	E532G	probably damaging	Het
Lrfn1	T	C	7: 28,158,111 (GRCm39)		probably benign	Het
Lrrc4c	A	G	2: 97,460,598 (GRCm39)	D408G	probably damaging	Het
Mbp	A	G	18: 82,572,670 (GRCm39)	E122G	probably damaging	Het
Myo9a	T	A	9: 59,777,836 (GRCm39)	D1197E	probably benign	Het
Ncor1	A	T	11: 62,220,485 (GRCm39)		probably benign	Het
Or2y17	A	G	11: 49,232,133 (GRCm39)	Y258C	probably benign	Het
Pdcd1lg2	A	G	19: 29,414,732 (GRCm39)	E53G	probably benign	Het
Phex	G	T	X: 156,051,489 (GRCm39)	A469E	probably damaging	Het
Pigo	A	G	4: 43,019,352 (GRCm39)	S957P	probably benign	Het
Ppargc1b	T	A	18: 61,443,946 (GRCm39)	R406*	probably null	Het
Ppargc1b	C	A	18: 61,443,945 (GRCm39)	R422I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Thnsl1	G	T	2: 21,216,665 (GRCm39)	A140S	possibly damaging	Het
Tma7	T	A	9: 108,911,153 (GRCm39)		probably benign	Het
Tmtc2	T	G	10: 105,184,354 (GRCm39)	S514R	probably benign	Het
Unc79	G	A	12: 102,965,006 (GRCm39)		probably null	Het
Wdr89	A	T	12: 75,679,897 (GRCm39)	I119N	probably damaging	Het
Wiz	C	A	17: 32,575,876 (GRCm39)	R843S	probably damaging	Het
Zfp275	T	A	X: 72,396,889 (GRCm39)	S12T	probably damaging	Het

Other mutations in Tm9sf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Tm9sf3	APN	19	41,244,715 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Tm9sf3	UTSW	19	41,206,630 (GRCm39)	missense	probably damaging	1.00
R0504:Tm9sf3	UTSW	19	41,236,331 (GRCm39)	splice site	probably benign
R0564:Tm9sf3	UTSW	19	41,233,964 (GRCm39)	splice site	probably benign
R0586:Tm9sf3	UTSW	19	41,244,582 (GRCm39)	critical splice donor site	probably null
R1224:Tm9sf3	UTSW	19	41,211,634 (GRCm39)	missense	probably damaging	1.00
R1533:Tm9sf3	UTSW	19	41,227,223 (GRCm39)	missense	probably benign	0.00
R1646:Tm9sf3	UTSW	19	41,211,618 (GRCm39)	missense	possibly damaging	0.79
R1748:Tm9sf3	UTSW	19	41,244,668 (GRCm39)	missense	probably benign	0.01
R2022:Tm9sf3	UTSW	19	41,227,231 (GRCm39)	missense	probably damaging	1.00
R2172:Tm9sf3	UTSW	19	41,205,859 (GRCm39)	missense	probably damaging	1.00
R3844:Tm9sf3	UTSW	19	41,205,555 (GRCm39)	missense	possibly damaging	0.95
R3878:Tm9sf3	UTSW	19	41,235,152 (GRCm39)	missense	probably damaging	0.98
R4384:Tm9sf3	UTSW	19	41,236,372 (GRCm39)	missense	probably damaging	1.00
R4385:Tm9sf3	UTSW	19	41,236,372 (GRCm39)	missense	probably damaging	1.00
R4582:Tm9sf3	UTSW	19	41,244,605 (GRCm39)	missense	probably damaging	1.00
R5497:Tm9sf3	UTSW	19	41,203,555 (GRCm39)	missense	probably benign	0.03
R5876:Tm9sf3	UTSW	19	41,229,023 (GRCm39)	missense	probably damaging	1.00
R6305:Tm9sf3	UTSW	19	41,233,881 (GRCm39)	critical splice donor site	probably null
R6924:Tm9sf3	UTSW	19	41,206,717 (GRCm39)	missense	probably damaging	1.00
R6936:Tm9sf3	UTSW	19	41,211,638 (GRCm39)	missense	probably benign	0.44
R7121:Tm9sf3	UTSW	19	41,233,944 (GRCm39)	nonsense	probably null
R7287:Tm9sf3	UTSW	19	41,205,818 (GRCm39)	missense	probably damaging	1.00
R7303:Tm9sf3	UTSW	19	41,227,198 (GRCm39)	missense	probably damaging	0.97
R7677:Tm9sf3	UTSW	19	41,209,743 (GRCm39)	missense	probably damaging	1.00
R8212:Tm9sf3	UTSW	19	41,229,074 (GRCm39)	missense	probably damaging	0.99
R8220:Tm9sf3	UTSW	19	41,203,526 (GRCm39)	missense	possibly damaging	0.80
R8715:Tm9sf3	UTSW	19	41,244,724 (GRCm39)	missense	probably damaging	1.00
X0026:Tm9sf3	UTSW	19	41,235,202 (GRCm39)	nonsense	probably null
X0026:Tm9sf3	UTSW	19	41,235,201 (GRCm39)	missense	possibly damaging	0.91
Z1088:Tm9sf3	UTSW	19	41,220,817 (GRCm39)	missense	probably damaging	1.00
Z1176:Tm9sf3	UTSW	19	41,227,248 (GRCm39)	missense	probably damaging	1.00
Z1177:Tm9sf3	UTSW	19	41,233,884 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16