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

1810073M23Rik, 2810031D16Rik, Smbp

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02176

Quality Score

Status

Chromosome

Chromosomal Location

41210842-41264004 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 41246637 bp (GRCm38)

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: 20,970,916	R415L	probably benign	Het
Ankle1	C	A	8: 71,406,259	H45Q	probably damaging	Het
Anks1b	A	T	10: 90,042,668	H113L	probably damaging	Het
Arhgap33	T	A	7: 30,524,051	H851L	possibly damaging	Het
Atp12a	C	T	14: 56,387,179	S972L	probably damaging	Het
Atrip	T	C	9: 109,067,046	D301G	probably benign	Het
Bckdk	A	G	7: 127,906,373	T223A	probably benign	Het
C3	C	A	17: 57,226,337		probably benign	Het
C8g	A	G	2: 25,499,110	S154P	probably damaging	Het
Casz1	A	G	4: 148,934,619	D459G	probably damaging	Het
Cdca7	A	G	2: 72,484,644	T293A	probably damaging	Het
Cmya5	T	A	13: 93,090,150	D2810V	probably damaging	Het
CN725425	G	A	15: 91,245,821	V296I	probably benign	Het
Col17a1	A	G	19: 47,651,219	M1077T	probably benign	Het
Ddhd1	A	T	14: 45,616,600	H426Q	probably damaging	Het
Dpp6	C	T	5: 27,723,577	T799M	probably damaging	Het
Efs	C	T	14: 54,921,042	G53D	probably damaging	Het
Fer1l4	A	G	2: 156,048,451	V221A	probably benign	Het
Gabre	G	A	X: 72,274,653	Q17*	probably null	Het
Gpld1	T	C	13: 24,984,209		probably null	Het
Gpr107	T	A	2: 31,168,846	V116D	probably benign	Het
Huwe1	T	C	X: 151,903,968	S2283P	possibly damaging	Het
Ksr1	A	G	11: 79,020,791	S722P	probably benign	Het
Lmbrd2	A	G	15: 9,182,574	E532G	probably damaging	Het
Lrfn1	T	C	7: 28,458,686		probably benign	Het
Lrrc4c	A	G	2: 97,630,253	D408G	probably damaging	Het
Mbp	A	G	18: 82,554,545	E122G	probably damaging	Het
Myo9a	T	A	9: 59,870,553	D1197E	probably benign	Het
Ncor1	A	T	11: 62,329,659		probably benign	Het
Olfr1390	A	G	11: 49,341,306	Y258C	probably benign	Het
Pdcd1lg2	A	G	19: 29,437,332	E53G	probably benign	Het
Phex	G	T	X: 157,268,493	A469E	probably damaging	Het
Pigo	A	G	4: 43,019,352	S957P	probably benign	Het
Ppargc1b	C	A	18: 61,310,874	R422I	probably damaging	Het
Ppargc1b	T	A	18: 61,310,875	R406*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Thnsl1	G	T	2: 21,211,854	A140S	possibly damaging	Het
Tma7	T	A	9: 109,082,085		probably benign	Het
Tmtc2	T	G	10: 105,348,493	S514R	probably benign	Het
Unc79	G	A	12: 102,998,747		probably null	Het
Wdr89	A	T	12: 75,633,123	I119N	probably damaging	Het
Wiz	C	A	17: 32,356,902	R843S	probably damaging	Het
Zfp275	T	A	X: 73,353,283	S12T	probably damaging	Het

Other mutations in Tm9sf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Tm9sf3	APN	19	41256276	missense	probably damaging	1.00
PIT4687001:Tm9sf3	UTSW	19	41218191	missense	probably damaging	1.00
R0504:Tm9sf3	UTSW	19	41247892	splice site	probably benign
R0564:Tm9sf3	UTSW	19	41245525	splice site	probably benign
R0586:Tm9sf3	UTSW	19	41256143	critical splice donor site	probably null
R1224:Tm9sf3	UTSW	19	41223195	missense	probably damaging	1.00
R1533:Tm9sf3	UTSW	19	41238784	missense	probably benign	0.00
R1646:Tm9sf3	UTSW	19	41223179	missense	possibly damaging	0.79
R1748:Tm9sf3	UTSW	19	41256229	missense	probably benign	0.01
R2022:Tm9sf3	UTSW	19	41238792	missense	probably damaging	1.00
R2172:Tm9sf3	UTSW	19	41217420	missense	probably damaging	1.00
R3844:Tm9sf3	UTSW	19	41217116	missense	possibly damaging	0.95
R3878:Tm9sf3	UTSW	19	41246713	missense	probably damaging	0.98
R4384:Tm9sf3	UTSW	19	41247933	missense	probably damaging	1.00
R4385:Tm9sf3	UTSW	19	41247933	missense	probably damaging	1.00
R4582:Tm9sf3	UTSW	19	41256166	missense	probably damaging	1.00
R5497:Tm9sf3	UTSW	19	41215116	missense	probably benign	0.03
R5876:Tm9sf3	UTSW	19	41240584	missense	probably damaging	1.00
R6305:Tm9sf3	UTSW	19	41245442	critical splice donor site	probably null
R6924:Tm9sf3	UTSW	19	41218278	missense	probably damaging	1.00
R6936:Tm9sf3	UTSW	19	41223199	missense	probably benign	0.44
R7121:Tm9sf3	UTSW	19	41245505	nonsense	probably null
R7287:Tm9sf3	UTSW	19	41217379	missense	probably damaging	1.00
R7303:Tm9sf3	UTSW	19	41238759	missense	probably damaging	0.97
R7677:Tm9sf3	UTSW	19	41221304	missense	probably damaging	1.00
R8212:Tm9sf3	UTSW	19	41240635	missense	probably damaging	0.99
R8220:Tm9sf3	UTSW	19	41215087	missense	possibly damaging	0.80
R8715:Tm9sf3	UTSW	19	41256285	missense	probably damaging	1.00
X0026:Tm9sf3	UTSW	19	41246762	missense	possibly damaging	0.91
X0026:Tm9sf3	UTSW	19	41246763	nonsense	probably null
Z1088:Tm9sf3	UTSW	19	41232378	missense	probably damaging	1.00
Z1176:Tm9sf3	UTSW	19	41238809	missense	probably damaging	1.00
Z1177:Tm9sf3	UTSW	19	41245445	missense	probably damaging	1.00

Posted On

2015-04-16