Mutagenetix > Incidental Mutation

Incidental Mutation 'R2002:Ano7'

223127

Institutional Source

Beutler Lab

Gene Symbol

Ano7

Ensembl Gene

ENSMUSG00000034107

Gene Name

anoctamin 7

Synonyms

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

MMRRC Submission

040012-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93373930-93404303 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 93400581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q14AT5

Predicted Effect

probably benign
Transcript: ENSMUST00000058682

SMART Domains

Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107

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

SMART Domains

Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190340

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,625,606		noncoding transcript	Het
Abcb4	T	A	5: 8,905,989	S98T	probably benign	Het
Acan	T	C	7: 79,100,793	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,315,975	Q41L	probably benign	Het
Ak2	T	A	4: 129,008,229	S232T	probably benign	Het
Akr1e1	T	A	13: 4,607,565		probably benign	Het
Aox1	T	A	1: 58,047,141	H68Q	possibly damaging	Het
Apaf1	A	G	10: 91,061,814	V269A	possibly damaging	Het
Apba2	A	T	7: 64,733,542	I368F	probably damaging	Het
Armc3	A	G	2: 19,288,936	M513V	probably benign	Het
Asb5	G	A	8: 54,583,620	V116M	probably damaging	Het
Atg16l2	A	G	7: 101,294,920	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,164,861	T40K	probably damaging	Het
C330027C09Rik	T	C	16: 49,005,851		probably benign	Het
Cdk2ap2	A	G	19: 4,097,903	M57V	possibly damaging	Het
Ctnnd1	T	C	2: 84,620,360	N172S	probably benign	Het
Ddx55	T	A	5: 124,566,440	V370E	probably damaging	Het
Ddx6	A	G	9: 44,607,534	T48A	probably benign	Het
Dnah10	C	T	5: 124,833,988	R4490W	probably damaging	Het
Dspp	T	A	5: 104,178,559	S929R	unknown	Het
Erbb3	T	C	10: 128,586,225	Y50C	probably benign	Het
Fam209	C	A	2: 172,472,769	N59K	probably benign	Het
Fgd3	T	C	13: 49,296,455	E106G	probably benign	Het
Frmd4a	A	C	2: 4,572,365	K344T	probably damaging	Het
Gbe1	A	G	16: 70,528,926	E617G	probably damaging	Het
Gm5089	T	A	14: 122,436,274	I12F	unknown	Het
Gm7052	T	A	17: 22,039,939		probably benign	Het
Gria1	A	T	11: 57,012,104	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,733,245	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Kcnma1	A	C	14: 23,337,029	S982A	probably damaging	Het
Khdrbs3	T	A	15: 69,013,479		probably benign	Het
Kif23	A	T	9: 61,927,384	C426*	probably null	Het
Lmo7	G	T	14: 101,887,061	A319S	probably benign	Het
Ly6c1	T	A	15: 75,048,493	T7S	possibly damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Mamdc4	A	T	2: 25,567,232	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,956,816	R88Q	probably damaging	Het
Mkrn1	T	C	6: 39,405,803	T158A	probably benign	Het
Mroh2b	G	T	15: 4,925,684	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,248,403	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,589,698	H655L	possibly damaging	Het
Npas2	T	C	1: 39,338,195	V546A	probably benign	Het
Nrxn3	G	A	12: 90,332,315	A400T	probably damaging	Het
Olfr1020	T	A	2: 85,850,400	V316E	probably benign	Het
Olfr1066	T	C	2: 86,455,473	H266R	probably benign	Het
Olfr139	A	T	11: 74,045,039	S78R	possibly damaging	Het
Oog3	G	T	4: 144,158,105	H420Q	possibly damaging	Het
Pak7	T	A	2: 136,116,637	H177L	probably benign	Het
Pcca	A	G	14: 122,887,065	I683V	probably benign	Het
Pea15a	T	C	1: 172,198,685	I90V	probably benign	Het
Plagl1	C	A	10: 13,128,658		probably benign	Het
Prmt1	A	G	7: 44,978,724	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,834	Y910*	probably null	Het
Rasal3	T	A	17: 32,393,611	T757S	probably damaging	Het
Rbbp8	T	C	18: 11,727,166		probably benign	Het
S1pr1	A	G	3: 115,712,895	S17P	probably benign	Het
Scel	G	A	14: 103,541,985	V131M	probably damaging	Het
Scn2a	G	A	2: 65,682,083	R188Q	probably null	Het
Snap29	T	A	16: 17,406,326	Y68*	probably null	Het
Spdl1	T	C	11: 34,822,646	T199A	probably benign	Het
Srbd1	T	C	17: 86,142,400	N14D	probably benign	Het
Ston1	G	A	17: 88,635,529	G121D	probably benign	Het
Syt16	G	A	12: 74,235,203	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,671,403	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,806,195	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,539,768		probably benign	Het
Trp73	T	C	4: 154,081,445	T56A	probably damaging	Het
Trpm3	A	G	19: 22,982,583	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,697,878		probably null	Het
Ube4b	T	C	4: 149,383,797	D174G	probably benign	Het
Vmn1r211	A	T	13: 22,851,783	M238K	probably damaging	Het
Wsb2	T	A	5: 117,370,733	N77K	probably benign	Het
Xkr4	C	T	1: 3,671,095	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,689,478		probably null	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
IGL01859:Ano7	APN	1	93394446	missense	probably damaging	1.00
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
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
R9729:Ano7	UTSW	1	93394458	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

Predicted Primers

PCR Primer
(F):5'- AGCATCCAAGGTGCACGTTC -3'
(R):5'- TCCCTAATGCACAGCCTCAG -3'

Sequencing Primer
(F):5'- AAGGTGCACGTTCTCTCAGACTAG -3'
(R):5'- GCTCCCAAGCCTCCCCAAG -3'

Posted On

2014-08-25