Mutagenetix > Incidental Mutations

Incidental Mutation 'R5401:Ano10'

430000

Institutional Source

Beutler Lab

Gene Symbol

Ano10

Ensembl Gene

ENSMUSG00000037949

Gene Name

anoctamin 10

Synonyms

Tmem16k

MMRRC Submission

042972-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R5401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122175874-122294423 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122261290 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 319 (L319Q)

Ref Sequence

ENSEMBL: ENSMUSP00000150161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042546] [ENSMUST00000214283] [ENSMUST00000214409] [ENSMUST00000214507] [ENSMUST00000216081] [ENSMUST00000216670]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042546
AA Change: L319Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045214
Gene: ENSMUSG00000037949
AA Change: L319Q

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	200	628	2.2e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214283
AA Change: L319Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214409
AA Change: L261Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214507
AA Change: L127Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000216081

Predicted Effect

probably damaging
Transcript: ENSMUST00000216670
AA Change: L319Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.3304

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (66/68)

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 inhibit anion conductance. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele fail to exhibit calcium-activated chloride ion secretion in the jejunum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	A	G	9: 40,051,042		noncoding transcript	Het
1700025H01Rik	G	T	16: 30,199,983		noncoding transcript	Het
2210016F16Rik	C	A	13: 58,382,591	A202S	probably benign	Het
2410141K09Rik	T	C	13: 66,431,663	R254G	probably benign	Het
9330159F19Rik	T	C	10: 29,225,140	V503A	probably benign	Het
Acacb	A	G	5: 114,209,853	N995S	possibly damaging	Het
Anapc4	A	G	5: 52,863,649	K630R	probably benign	Het
Ankrd13a	A	C	5: 114,792,173	Q206H	probably damaging	Het
Asna1	A	T	8: 85,018,544	I298N	possibly damaging	Het
Camkk2	T	A	5: 122,746,335	D341V	probably damaging	Het
Ccdc88a	A	G	11: 29,463,279	I606V	probably benign	Het
Cdv3	G	T	9: 103,365,117		probably benign	Het
Cep97	A	G	16: 55,924,952	V155A	probably benign	Het
Cmya5	T	C	13: 93,091,968	E2204G	probably damaging	Het
Cracr2b	A	G	7: 141,466,223	*395W	probably null	Het
Defa27	A	G	8: 21,315,694	E50G	possibly damaging	Het
Dnah7a	A	G	1: 53,631,653	I480T	probably benign	Het
Ep400	C	A	5: 110,683,171	D2210Y	unknown	Het
Fam170a	T	A	18: 50,280,551	S28T	probably benign	Het
Fancc	C	A	13: 63,402,953	K18N	probably damaging	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Fndc8	T	G	11: 82,897,850	S169A	possibly damaging	Het
Herc1	T	C	9: 66,502,056	Y4688H	probably damaging	Het
Ighv11-2	A	T	12: 114,048,339	D85E	possibly damaging	Het
Kat14	T	C	2: 144,389,260	F196L	possibly damaging	Het
Kctd19	C	T	8: 105,382,985	V942I	probably benign	Het
Llgl1	A	G	11: 60,706,471	S249G	probably benign	Het
Map1a	T	C	2: 121,299,672	V323A	probably damaging	Het
Olfr734	C	A	14: 50,320,109	C242F	probably damaging	Het
Phf21a	C	A	2: 92,351,752	T342K	possibly damaging	Het
Piezo2	T	A	18: 63,084,740	D1122V	possibly damaging	Het
Pklr	A	G	3: 89,141,866	Y173C	probably damaging	Het
Plcz1	G	T	6: 139,993,052		probably null	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Prom1	A	T	5: 44,000,805	Y845N	probably damaging	Het
Ret	A	T	6: 118,181,975	S159T	probably benign	Het
Rfx1	C	A	8: 84,066,376		probably null	Het
Scp2	A	T	4: 108,144,779		probably null	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smad5	T	C	13: 56,727,469	F157L	probably benign	Het
Smarcc2	C	A	10: 128,465,504	D210E	probably damaging	Het
Sptlc3	T	C	2: 139,636,723	L534P	possibly damaging	Het
Srrm1	A	G	4: 135,324,069		probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Sugct	T	A	13: 16,857,870	Q432H	probably damaging	Het
Tex9	A	T	9: 72,486,778		probably null	Het
Tsc1	C	A	2: 28,686,908	S1073*	probably null	Het
Vmn1r72	T	C	7: 11,669,916	S202G	probably damaging	Het
Vmn2r55	A	G	7: 12,651,944	V703A	probably benign	Het
Vmn2r67	A	T	7: 85,136,557	Y747N	probably damaging	Het
Zcchc4	A	G	5: 52,807,077	I292V	probably benign	Het
Zswim2	C	T	2: 83,925,245	G104E	possibly damaging	Het

Other mutations in Ano10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Ano10	APN	9	122261356	missense	possibly damaging	0.96
IGL00886:Ano10	APN	9	122271324	missense	probably benign	0.01
IGL00932:Ano10	APN	9	122251231	nonsense	probably null
IGL01613:Ano10	APN	9	122259540	missense	possibly damaging	0.75
IGL02109:Ano10	APN	9	122261342	missense	probably damaging	1.00
IGL02397:Ano10	APN	9	122261392	missense	probably damaging	1.00
IGL02512:Ano10	APN	9	122272474	missense	possibly damaging	0.50
IGL03216:Ano10	APN	9	122257061	missense	probably damaging	1.00
arna	UTSW	9	122259564	missense	possibly damaging	0.77
R0624:Ano10	UTSW	9	122259595	splice site	probably benign
R1669:Ano10	UTSW	9	122257183	missense	possibly damaging	0.94
R1801:Ano10	UTSW	9	122253030	missense	probably damaging	1.00
R2511:Ano10	UTSW	9	122258945	missense	probably damaging	0.99
R3836:Ano10	UTSW	9	122263763	missense	possibly damaging	0.58
R4027:Ano10	UTSW	9	122252928	splice site	probably benign
R4151:Ano10	UTSW	9	122261535	nonsense	probably null
R4590:Ano10	UTSW	9	122257165	missense	probably benign	0.22
R4651:Ano10	UTSW	9	122261115	nonsense	probably null
R4652:Ano10	UTSW	9	122261115	nonsense	probably null
R4676:Ano10	UTSW	9	122263787	missense	probably damaging	0.98
R5026:Ano10	UTSW	9	122272559	nonsense	probably null
R5281:Ano10	UTSW	9	122261486	missense	probably damaging	1.00
R6269:Ano10	UTSW	9	122261242	missense	probably damaging	0.99
R6449:Ano10	UTSW	9	122201688	intron	probably benign
R6702:Ano10	UTSW	9	122259564	missense	possibly damaging	0.77
R7010:Ano10	UTSW	9	122253124	missense	probably damaging	1.00
R7384:Ano10	UTSW	9	122176343	missense	unknown
R7584:Ano10	UTSW	9	122275531	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTTAGGAACTCGGCAGCATATC -3'
(R):5'- TATGGTCCACAGTGATCCTGG -3'

Sequencing Primer
(F):5'- ACTCGGCAGCATATCGATAG -3'
(R):5'- TCCACAGTGATCCTGGAGGTG -3'

Posted On

2016-09-06