Mutagenetix > Incidental Mutation

Incidental Mutation 'R7106:Ano7'

568518

Institutional Source

Beutler Lab

Gene Symbol

Ano7

Ensembl Gene

ENSMUSG00000034107

Gene Name

anoctamin 7

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7106 (G1)

Quality Score

78.0075

Status

Validated

Chromosome

Chromosomal Location

93373930-93404303 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 93374983 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027494] [ENSMUST00000058682] [ENSMUST00000186641]

AlphaFold

Q14AT5

Predicted Effect

probably benign
Transcript: ENSMUST00000027494

SMART Domains

Protein: ENSMUSP00000027494
Gene: ENSMUSG00000026275

Domain	Start	End	E-Value	Type
low complexity region	23	39	N/A	INTRINSIC
LRR	98	119	1.32e-5	SMART
LRR	120	141	4.37e-6	SMART
LRR	142	163	6.42e-4	SMART
LRR	164	185	9.73e-4	SMART
LRR	186	207	3.74e-5	SMART
LRR	208	229	4.68e-6	SMART
LRR	230	251	1.04e-3	SMART
LRR	252	273	1.98e-4	SMART
LRR	274	295	2.01e-5	SMART
LRR	296	317	1.45e-2	SMART
LRRcap	337	355	2.67e-4	SMART

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000186641

SMART Domains

Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	T	C	4: 49,541,258	Y138C	probably damaging	Het
Arvcf	T	A	16: 18,399,049	V497E	probably damaging	Het
Atad2	A	G	15: 58,116,766		probably null	Het
Brinp1	C	T	4: 68,829,378	A163T	probably benign	Het
Catsperd	C	A	17: 56,658,070		probably null	Het
Ccm2l	A	G	2: 153,070,651	H70R	possibly damaging	Het
Cgnl1	G	A	9: 71,725,733	T112I	probably benign	Het
Chid1	T	C	7: 141,522,660	H220R	probably benign	Het
Clca1	A	G	3: 145,027,429	V106A	probably damaging	Het
Cldn23	A	C	8: 35,825,915	S140A	probably benign	Het
Dennd2c	T	C	3: 103,131,577	S14P	possibly damaging	Het
Det1	T	C	7: 78,843,464	D264G	probably damaging	Het
Dmwd	T	C	7: 19,080,529	V368A	probably damaging	Het
Dnah11	T	C	12: 117,961,149	K3362E	probably benign	Het
Dnah8	T	C	17: 30,741,178	F2208L	probably damaging	Het
Dnaja3	T	C	16: 4,705,934	I477T	probably benign	Het
Dnmt3a	A	G	12: 3,897,591	K482E	probably damaging	Het
Dock7	A	G	4: 98,967,326	I1493T	unknown	Het
Ehbp1l1	A	G	19: 5,718,737	V846A	probably benign	Het
Fbxl4	T	A	4: 22,427,140		probably null	Het
Fgd2	T	A	17: 29,376,970	L534*	probably null	Het
Fgfr3	T	C	5: 33,731,414	V349A	probably damaging	Het
Gal3st1	A	T	11: 3,998,509	I239F	probably damaging	Het
Gpatch3	C	A	4: 133,578,203	H250N	probably benign	Het
Guca1b	A	T	17: 47,391,311	K230*	probably null	Het
Itga3	G	T	11: 95,055,873	L737I	probably benign	Het
Kmt5c	A	G	7: 4,742,706	K122E	probably damaging	Het
Kpna4	G	A	3: 69,079,464	Q531*	probably null	Het
Lctl	A	G	9: 64,132,837	E410G	probably benign	Het
Lhx1	T	C	11: 84,522,077	N128D	probably benign	Het
Lifr	A	G	15: 7,172,924	N349D	probably benign	Het
Map2	G	A	1: 66,410,744	A209T	possibly damaging	Het
Mif4gd	G	A	11: 115,611,911	A25V	probably damaging	Het
Mug2	T	C	6: 122,082,721	S1353P	probably damaging	Het
Myh9	A	G	15: 77,775,121	C931R	probably benign	Het
Nelfe	T	G	17: 34,852,419		probably null	Het
Nrf1	A	G	6: 30,102,184	S161G	probably benign	Het
Pik3c2a	G	A	7: 116,418,133	Q130*	probably null	Het
Prex2	T	A	1: 11,136,793	M525K	probably benign	Het
Psme2	A	G	14: 55,588,237	S165P	probably benign	Het
Rapgef2	A	G	3: 79,066,608	F1477S	probably benign	Het
Rasef	A	T	4: 73,727,627	C502S	probably damaging	Het
Rpap2	T	A	5: 107,633,122	L565*	probably null	Het
Sav1	A	G	12: 69,984,616	I44T	probably damaging	Het
Selp	T	A	1: 164,126,422	I97N	probably benign	Het
Serpina1d	A	G	12: 103,765,721	F293S	probably benign	Het
Sin3b	T	C	8: 72,724,137	F65L	possibly damaging	Het
Sorcs3	G	C	19: 48,705,963	G559R	probably damaging	Het
Susd2	A	T	10: 75,638,053	D689E	probably damaging	Het
Tas1r2	A	T	4: 139,662,049	M448L	probably benign	Het
Tbc1d30	A	T	10: 121,301,992	I181N	possibly damaging	Het
Tcea3	A	G	4: 136,271,368	T318A	probably damaging	Het
Tomm70a	T	C	16: 57,140,758	V358A	probably damaging	Het
Tpp1	A	C	7: 105,749,911	S153A	possibly damaging	Het
Trip13	C	T	13: 73,914,532	V387I	probably benign	Het
Ttn	T	C	2: 76,797,488	I14704V	probably benign	Het
Uimc1	C	A	13: 55,050,815	C516F	possibly damaging	Het
Vit	A	G	17: 78,586,799	N210S	probably benign	Het
Vmn1r22	G	T	6: 57,900,311	T227K	probably damaging	Het
Vmn2r5	A	G	3: 64,491,683	I625T	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,895,021		probably benign	Het
Zfp384	T	C	6: 125,024,259	L98P	probably benign	Het
Zfp809	G	T	9: 22,236,224	K51N	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
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
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
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'- CTTACCCAGAATGAAAGGGAGC -3'
(R):5'- ATAGGAGCATCCATTCCCTGC -3'

Sequencing Primer
(F):5'- GGGAGCCCCACACTTGGTG -3'
(R):5'- AGGCCATGTCGATCAGCAC -3'

Posted On

2019-08-15