Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Ano7'

73089

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano7

Ensembl Gene

ENSMUSG00000034107

Gene Name

anoctamin 7

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

93301652-93332025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93308200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 77 (D77G)

Ref Sequence

ENSEMBL: ENSMUSP00000140438 (fasta)

Gene Model

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

AlphaFold

Q14AT5

Predicted Effect

probably benign
Transcript: ENSMUST00000058682
AA Change: D77G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
AA Change: D77G

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 benign
Transcript: ENSMUST00000186641
AA Change: D77G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
AA Change: D77G

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

Meta Mutation Damage Score

0.2201

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Atn1	T	C	6: 124,726,239 (GRCm39)	E80G	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dph1	A	G	11: 75,071,775 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fbxl4	C	A	4: 22,427,348 (GRCm39)	R530S	probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Klhl25	T	A	7: 75,515,620 (GRCm39)	H175Q	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nfatc4	T	C	14: 56,069,962 (GRCm39)	V710A	probably benign	Het
Optn	G	A	2: 5,037,967 (GRCm39)	T409I	possibly damaging	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,574,473 (GRCm39)	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,346,746 (GRCm39)		probably benign	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Ptprk	G	A	10: 28,351,174 (GRCm39)	V556I	probably benign	Het
Rffl	A	T	11: 82,709,283 (GRCm39)	C47S	probably damaging	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	Het

Other mutations in Ano7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ano7	APN	1	93,329,888 (GRCm39)	missense	probably benign	0.04
IGL00838:Ano7	APN	1	93,330,479 (GRCm39)	missense	possibly damaging	0.91
IGL01322:Ano7	APN	1	93,323,230 (GRCm39)	missense	probably benign	0.08
IGL01807:Ano7	APN	1	93,330,418 (GRCm39)	missense	possibly damaging	0.66
IGL01859:Ano7	APN	1	93,322,168 (GRCm39)	missense	probably damaging	1.00
IGL02349:Ano7	APN	1	93,319,212 (GRCm39)	missense	probably benign	0.02
IGL02976:Ano7	APN	1	93,330,395 (GRCm39)	missense	possibly damaging	0.78
R0360:Ano7	UTSW	1	93,316,380 (GRCm39)	missense	probably benign	0.01
R0364:Ano7	UTSW	1	93,316,380 (GRCm39)	missense	probably benign	0.01
R0528:Ano7	UTSW	1	93,323,224 (GRCm39)	missense	probably null	1.00
R0741:Ano7	UTSW	1	93,329,309 (GRCm39)	missense	probably damaging	0.97
R1131:Ano7	UTSW	1	93,329,498 (GRCm39)	missense	probably benign	0.24
R1156:Ano7	UTSW	1	93,329,574 (GRCm39)	splice site	probably null
R1500:Ano7	UTSW	1	93,325,050 (GRCm39)	missense	probably damaging	1.00
R1710:Ano7	UTSW	1	93,313,346 (GRCm39)	missense	probably benign	0.00
R2002:Ano7	UTSW	1	93,328,303 (GRCm39)	unclassified	probably benign
R2062:Ano7	UTSW	1	93,318,035 (GRCm39)	missense	probably benign
R2120:Ano7	UTSW	1	93,329,855 (GRCm39)	splice site	probably benign
R2200:Ano7	UTSW	1	93,308,158 (GRCm39)	missense	possibly damaging	0.93
R2268:Ano7	UTSW	1	93,308,161 (GRCm39)	missense	possibly damaging	0.51
R2763:Ano7	UTSW	1	93,326,908 (GRCm39)	splice site	probably null
R4202:Ano7	UTSW	1	93,308,200 (GRCm39)	missense	probably benign	0.00
R4204:Ano7	UTSW	1	93,308,200 (GRCm39)	missense	probably benign	0.00
R4205:Ano7	UTSW	1	93,308,200 (GRCm39)	missense	probably benign	0.00
R4453:Ano7	UTSW	1	93,322,075 (GRCm39)	missense	probably damaging	1.00
R4627:Ano7	UTSW	1	93,302,907 (GRCm39)	missense	probably benign	0.15
R4735:Ano7	UTSW	1	93,328,216 (GRCm39)	missense	probably benign
R4809:Ano7	UTSW	1	93,322,288 (GRCm39)	missense	probably benign	0.20
R4935:Ano7	UTSW	1	93,323,036 (GRCm39)	missense	possibly damaging	0.48
R4970:Ano7	UTSW	1	93,325,085 (GRCm39)	missense	possibly damaging	0.77
R5112:Ano7	UTSW	1	93,325,085 (GRCm39)	missense	possibly damaging	0.77
R5249:Ano7	UTSW	1	93,302,918 (GRCm39)	missense	probably benign
R5813:Ano7	UTSW	1	93,312,641 (GRCm39)	critical splice donor site	probably null
R6181:Ano7	UTSW	1	93,323,081 (GRCm39)	missense	probably damaging	1.00
R7106:Ano7	UTSW	1	93,302,705 (GRCm39)	splice site	probably null
R7113:Ano7	UTSW	1	93,313,342 (GRCm39)	missense	probably benign	0.10
R7199:Ano7	UTSW	1	93,330,700 (GRCm39)	missense
R7218:Ano7	UTSW	1	93,308,191 (GRCm39)	missense	probably benign	0.01
R7381:Ano7	UTSW	1	93,323,057 (GRCm39)	missense	probably benign
R7722:Ano7	UTSW	1	93,318,145 (GRCm39)	missense	probably damaging	0.99
R7832:Ano7	UTSW	1	93,322,195 (GRCm39)	missense	probably benign	0.06
R8700:Ano7	UTSW	1	93,316,329 (GRCm39)	missense	probably damaging	1.00
R9729:Ano7	UTSW	1	93,322,180 (GRCm39)	missense	probably damaging	1.00
Z1176:Ano7	UTSW	1	93,322,187 (GRCm39)	missense	probably benign	0.26
Z1177:Ano7	UTSW	1	93,329,249 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07