Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01859:Ano7'

178236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano7

Ensembl Gene

ENSMUSG00000034107

Gene Name

anoctamin 7

Synonyms

Tmem16g, NGEP-L, IPCA-5, NGEP, Pcanap5

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01859

Quality Score

Status

Chromosome

Chromosomal Location

93373930-93404303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93394446 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 392 (Y392C)

Ref Sequence

ENSEMBL: ENSMUSP00000140438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058682] [ENSMUST00000186641]

Predicted Effect

probably damaging
Transcript: ENSMUST00000058682
AA Change: Y392C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
AA Change: Y392C

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	49	274	2.2e-63	PFAM
Pfam:Anoctamin	277	824	3.4e-146	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186641
AA Change: Y392C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
AA Change: Y392C

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	277	825	6.6e-150	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to have little anion conductance activity. In humans, this protein is primarily found in prostate tissues and may serve as a target for prostate cancer immunotherapy. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 104,086,137		probably benign	Het
Ak7	A	G	12: 105,745,297	M398V	probably null	Het
Angptl3	C	T	4: 99,037,432	R332*	probably null	Het
Arpc1b	T	C	5: 145,123,730	F18L	probably damaging	Het
Cdc23	G	T	18: 34,651,406	P73Q	probably benign	Het
Cdkl1	A	C	12: 69,760,129	L111R	probably damaging	Het
Cntnap2	A	G	6: 46,988,721	D822G	probably damaging	Het
Col6a5	G	A	9: 105,930,961	R963*	probably null	Het
Crocc	T	C	4: 141,029,290	D1008G	probably benign	Het
Dntt	G	T	19: 41,037,304	M120I	probably benign	Het
Dock1	A	G	7: 135,077,161	Y1003C	possibly damaging	Het
Fam178b	T	A	1: 36,659,365	R92W	probably damaging	Het
Fermt2	A	G	14: 45,459,956	V646A	possibly damaging	Het
Foxc1	T	C	13: 31,808,723	S506P	unknown	Het
Gm11127	A	T	17: 36,058,011	M59K	possibly damaging	Het
Gtpbp1	T	A	15: 79,719,140	V610E	probably benign	Het
Hsdl2	T	C	4: 59,601,569		probably null	Het
Itgb8	T	A	12: 119,189,945	R278S	probably damaging	Het
Kcnh7	T	A	2: 62,721,788	D953V	probably benign	Het
Med13	A	T	11: 86,283,751	D1749E	possibly damaging	Het
Mocos	G	T	18: 24,666,660		probably benign	Het
Pcdhb20	T	G	18: 37,504,563	N47K	probably damaging	Het
Phf21a	T	A	2: 92,328,356	F227L	probably damaging	Het
Piezo2	T	C	18: 63,092,844	E907G	probably benign	Het
Pla2g4e	G	T	2: 120,182,733	Q369K	possibly damaging	Het
Ppp3cb	A	G	14: 20,509,449	I413T	probably damaging	Het
Ptgis	A	G	2: 167,214,806		probably null	Het
Rasgrp1	A	G	2: 117,289,418	V452A	probably benign	Het
Rbms3	T	A	9: 116,959,538	D105V	probably damaging	Het
Rnase1	C	A	14: 51,145,803	Q31H	probably benign	Het
Rnase13	G	T	14: 51,922,303	N126K	probably damaging	Het
Sema5b	G	T	16: 35,647,109	V248L	possibly damaging	Het
Serpinb12	G	A	1: 106,953,834		probably null	Het
Slc4a11	A	T	2: 130,684,994	L738Q	probably damaging	Het
Spta1	A	T	1: 174,174,372	I23F	probably damaging	Het
Stk-ps2	A	T	1: 46,030,042		noncoding transcript	Het
Tcp1	A	G	17: 12,922,684	E350G	possibly damaging	Het
Tonsl	T	C	15: 76,634,780	K518E	probably damaging	Het
Trim34a	A	G	7: 104,260,942	E317G	probably damaging	Het
Trit1	A	G	4: 123,049,551	S335G	probably benign	Het
Usp28	G	T	9: 49,024,021	E91*	probably null	Het
Vmn2r56	A	G	7: 12,716,005	L102P	probably damaging	Het
Wwtr1	A	C	3: 57,477,517	L203R	possibly damaging	Het
Zfp110	T	C	7: 12,849,540	V705A	possibly damaging	Het
Zfp955a	T	C	17: 33,243,719	N67S	probably benign	Het

Other mutations in Ano7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ano7	APN	1	93402166	missense	probably benign	0.04
IGL00838:Ano7	APN	1	93402757	missense	possibly damaging	0.91
IGL01295:Ano7	APN	1	93380478	missense	probably benign	0.00
IGL01322:Ano7	APN	1	93395508	missense	probably benign	0.08
IGL01807:Ano7	APN	1	93402696	missense	possibly damaging	0.66
IGL02349:Ano7	APN	1	93391490	missense	probably benign	0.02
IGL02976:Ano7	APN	1	93402673	missense	possibly damaging	0.78
R0360:Ano7	UTSW	1	93388658	missense	probably benign	0.01
R0364:Ano7	UTSW	1	93388658	missense	probably benign	0.01
R0528:Ano7	UTSW	1	93395502	missense	probably null	1.00
R0741:Ano7	UTSW	1	93401587	missense	probably damaging	0.97
R1131:Ano7	UTSW	1	93401776	missense	probably benign	0.24
R1156:Ano7	UTSW	1	93401852	splice site	probably null
R1500:Ano7	UTSW	1	93397328	missense	probably damaging	1.00
R1710:Ano7	UTSW	1	93385624	missense	probably benign	0.00
R2002:Ano7	UTSW	1	93400581	unclassified	probably benign
R2062:Ano7	UTSW	1	93390313	missense	probably benign
R2120:Ano7	UTSW	1	93402133	splice site	probably benign
R2200:Ano7	UTSW	1	93380436	missense	possibly damaging	0.93
R2268:Ano7	UTSW	1	93380439	missense	possibly damaging	0.51
R2763:Ano7	UTSW	1	93399186	splice site	probably null
R4202:Ano7	UTSW	1	93380478	missense	probably benign	0.00
R4204:Ano7	UTSW	1	93380478	missense	probably benign	0.00
R4205:Ano7	UTSW	1	93380478	missense	probably benign	0.00
R4453:Ano7	UTSW	1	93394353	missense	probably damaging	1.00
R4627:Ano7	UTSW	1	93375185	missense	probably benign	0.15
R4735:Ano7	UTSW	1	93400494	missense	probably benign
R4809:Ano7	UTSW	1	93394566	missense	probably benign	0.20
R4935:Ano7	UTSW	1	93395314	missense	possibly damaging	0.48
R4970:Ano7	UTSW	1	93397363	missense	possibly damaging	0.77
R5112:Ano7	UTSW	1	93397363	missense	possibly damaging	0.77
R5249:Ano7	UTSW	1	93375196	missense	probably benign
R5813:Ano7	UTSW	1	93384919	critical splice donor site	probably null
R6181:Ano7	UTSW	1	93395359	missense	probably damaging	1.00
R7106:Ano7	UTSW	1	93374983	splice site	probably null
R7113:Ano7	UTSW	1	93385620	missense	probably benign	0.10
R7199:Ano7	UTSW	1	93402978	missense
R7218:Ano7	UTSW	1	93380469	missense	probably benign	0.01
R7381:Ano7	UTSW	1	93395335	missense	probably benign
R7722:Ano7	UTSW	1	93390423	missense	probably damaging	0.99
R7832:Ano7	UTSW	1	93394473	missense	probably benign	0.06
R8700:Ano7	UTSW	1	93388607	missense	probably damaging	1.00
Z1176:Ano7	UTSW	1	93394465	missense	probably benign	0.26
Z1177:Ano7	UTSW	1	93401527	missense	probably damaging	1.00

Posted On

2014-05-07