Mutagenetix > Incidental Mutation

Incidental Mutation 'R7709:Ano8'

594467

Institutional Source

Beutler Lab

Gene Symbol

Ano8

Ensembl Gene

ENSMUSG00000034863

Gene Name

anoctamin 8

Synonyms

Tmem16h

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71476019-71485963 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71482289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 423 (D423G)

Ref Sequence

ENSEMBL: ENSMUSP00000091157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093450] [ENSMUST00000213382]

AlphaFold

Q6PB70

Predicted Effect

probably damaging
Transcript: ENSMUST00000093450
AA Change: D423G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: D423G

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
Pfam:Anoctamin	237	874	3e-149	PFAM
coiled coil region	881	919	N/A	INTRINSIC
low complexity region	948	964	N/A	INTRINSIC
low complexity region	974	988	N/A	INTRINSIC
low complexity region	1042	1056	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213382
AA Change: D423G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,407,685	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,942,854	C170R	possibly damaging	Het
4932415D10Rik	A	C	10: 82,290,532	S2215A	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,587,410		probably null	Het
A2m	A	C	6: 121,660,104	T809P	possibly damaging	Het
Abca12	T	C	1: 71,335,728	D340G	probably benign	Het
Abcg8	A	T	17: 84,692,491	D191V	probably damaging	Het
Acan	G	T	7: 79,089,608	V255F	probably damaging	Het
Ace	G	A	11: 105,988,837	V1248I	probably benign	Het
Adgre1	A	T	17: 57,402,519	Q87L	unknown	Het
Adgrl1	G	A	8: 83,938,988	V1435M	probably benign	Het
Aox3	T	C	1: 58,180,651	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,405,056	D114G	probably benign	Het
Baiap2l2	G	T	15: 79,259,711	N394K	probably benign	Het
Cap1	A	T	4: 122,862,674	C355S	probably damaging	Het
Ccdc25	A	T	14: 65,840,484	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,538,651	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,173,015		probably benign	Het
CN725425	C	A	15: 91,240,727	R157S	probably benign	Het
Coq8b	T	C	7: 27,250,537	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,990,060	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,374,411	V83A	possibly damaging	Het
Daam1	G	A	12: 71,977,649	R797H	probably benign	Het
Dab1	C	A	4: 104,720,559	S275*	probably null	Het
Dgkz	T	C	2: 91,937,059	E863G	probably benign	Het
Dhx34	G	A	7: 16,212,864	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,702,484		probably null	Het
Dnmt3b	C	A	2: 153,672,220	N384K	probably benign	Het
Dock5	A	G	14: 67,796,005	Y972H	probably benign	Het
Etv5	A	T	16: 22,412,847	Y138*	probably null	Het
Fdps	A	G	3: 89,101,090	S4P	probably damaging	Het
Gart	A	G	16: 91,622,965	F885L	possibly damaging	Het
Gm32687	A	T	10: 81,879,494	H240L	probably damaging	Het
Gm34653	T	G	2: 34,838,425	C79G	probably damaging	Het
Gm4553	C	T	7: 142,165,647	G15R	unknown	Het
Gm572	C	T	4: 148,668,951	T351M	probably damaging	Het
Gpr3	A	T	4: 133,210,437	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,701,781	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,094,789	H661R	unknown	Het
Heatr4	A	T	12: 83,957,725	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Ift81	C	T	5: 122,609,331	V91M	probably damaging	Het
Igsf10	G	T	3: 59,331,543	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,260,399	V257A	probably benign	Het
Ina	A	T	19: 47,023,643	K500I		Het
Lce1i	A	T	3: 92,777,759	C37S	unknown	Het
Lrrc59	A	T	11: 94,634,985	D133V	probably damaging	Het
Magi3	A	G	3: 104,034,038	I867T	probably damaging	Het
Mmaa	T	A	8: 79,269,201	R298W	probably damaging	Het
Mon1a	G	T	9: 107,900,128	V77F	probably benign	Het
Mrc2	A	G	11: 105,346,459	T1030A	probably benign	Het
Mrps27	T	A	13: 99,404,996	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,011	M204K	probably damaging	Het
Mtus1	A	G	8: 41,054,650	I21T	possibly damaging	Het
Myh2	T	C	11: 67,194,864	V1844A	probably benign	Het
Myh7	C	G	14: 54,988,801	D461H	probably damaging	Het
Nbr1	T	G	11: 101,556,241	F18V	probably damaging	Het
Npy2r	T	C	3: 82,540,382	N362S	probably benign	Het
Ocln	T	A	13: 100,539,598	Y129F	probably damaging	Het
Olfr1258	T	C	2: 89,929,881	I24T	probably benign	Het
Olfr31	T	C	14: 14,328,384	I91T	probably damaging	Het
Olfr898	A	G	9: 38,349,277	M59V	probably benign	Het
Pik3c2b	T	G	1: 133,079,841		probably null	Het
Prss39	A	G	1: 34,502,628	D262G	probably damaging	Het
Ptk7	T	A	17: 46,571,643	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,537,327	I640T	possibly damaging	Het
Rogdi	A	G	16: 5,009,234	Y303H	probably damaging	Het
Rps6kb1	A	T	11: 86,513,322	M283K	probably damaging	Het
Sardh	T	A	2: 27,241,517	T188S	possibly damaging	Het
Sebox	A	G	11: 78,504,093	E87G	probably damaging	Het
Smchd1	A	T	17: 71,358,198	M1830K	probably damaging	Het
Spink8	G	A	9: 109,816,780	V7I	probably benign	Het
Src	G	A	2: 157,457,244	V54M	probably benign	Het
Taar2	A	G	10: 23,940,723	I54V	probably benign	Het
Tpo	A	T	12: 30,131,860	V12E	possibly damaging	Het
Txk	T	C	5: 72,707,575	D373G	probably damaging	Het
Ubr5	G	A	15: 37,979,832	A2434V	probably null	Het
Vil1	C	T	1: 74,426,595	T515M	probably benign	Het
Wdr47	G	T	3: 108,618,521	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,013,025	P335L	unknown	Het
Zfp148	T	A	16: 33,468,175	I220N	probably damaging	Het
Zfp992	A	T	4: 146,467,165	K448*	probably null	Het
Zfp994	T	C	17: 22,200,425	I514M	probably benign	Het
Zp2	A	T	7: 120,135,775	I429N	probably damaging	Het

Other mutations in Ano8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Ano8	APN	8	71484258	splice site	probably benign
IGL00501:Ano8	APN	8	71479149	critical splice donor site	probably null
IGL01380:Ano8	APN	8	71480809	unclassified	probably benign
IGL02138:Ano8	APN	8	71484842	missense	probably damaging	0.99
IGL02516:Ano8	APN	8	71485077	missense	probably damaging	1.00
IGL02675:Ano8	APN	8	71483540	missense	probably damaging	0.99
IGL02995:Ano8	APN	8	71483117	missense	possibly damaging	0.72
H8786:Ano8	UTSW	8	71478744	unclassified	probably benign
R0265:Ano8	UTSW	8	71480524	unclassified	probably benign
R0282:Ano8	UTSW	8	71480614	unclassified	probably benign
R0518:Ano8	UTSW	8	71479258	missense	probably benign	0.39
R0521:Ano8	UTSW	8	71479258	missense	probably benign	0.39
R1028:Ano8	UTSW	8	71480971	small deletion	probably benign
R1147:Ano8	UTSW	8	71482017	missense	probably damaging	1.00
R1147:Ano8	UTSW	8	71482017	missense	probably damaging	1.00
R1748:Ano8	UTSW	8	71478958	unclassified	probably benign
R1852:Ano8	UTSW	8	71483487	missense	probably damaging	0.99
R4161:Ano8	UTSW	8	71482637	missense	probably damaging	1.00
R4192:Ano8	UTSW	8	71483292	missense	probably damaging	1.00
R4274:Ano8	UTSW	8	71478741	unclassified	probably benign
R4834:Ano8	UTSW	8	71484295	missense	probably damaging	1.00
R4961:Ano8	UTSW	8	71482996	missense	probably damaging	1.00
R5252:Ano8	UTSW	8	71482617	missense	probably damaging	1.00
R5553:Ano8	UTSW	8	71484997	splice site	probably null
R5598:Ano8	UTSW	8	71482577	missense	probably damaging	1.00
R5695:Ano8	UTSW	8	71483243	missense	probably damaging	0.98
R5994:Ano8	UTSW	8	71484834	missense	probably damaging	1.00
R6019:Ano8	UTSW	8	71482380	missense	probably damaging	1.00
R6153:Ano8	UTSW	8	71480797	unclassified	probably benign
R6405:Ano8	UTSW	8	71483030	missense	probably damaging	1.00
R6516:Ano8	UTSW	8	71481780	splice site	probably null
R6539:Ano8	UTSW	8	71484483	missense	probably damaging	1.00
R7194:Ano8	UTSW	8	71482363	missense	possibly damaging	0.66
R7204:Ano8	UTSW	8	71479025	missense	probably benign	0.39
R7340:Ano8	UTSW	8	71483011	missense	probably damaging	0.99
R7365:Ano8	UTSW	8	71485110	missense	probably damaging	1.00
R7417:Ano8	UTSW	8	71480833	missense	unknown
R7486:Ano8	UTSW	8	71484998	critical splice donor site	probably null
R7644:Ano8	UTSW	8	71484830	missense	probably damaging	0.98
R7719:Ano8	UTSW	8	71483140	missense	possibly damaging	0.82
R8040:Ano8	UTSW	8	71482168	missense	probably benign	0.26
R8219:Ano8	UTSW	8	71480713	missense	unknown
R8355:Ano8	UTSW	8	71480566	unclassified	probably benign
R8401:Ano8	UTSW	8	71483367	missense	probably damaging	1.00
R8713:Ano8	UTSW	8	71485077	missense	probably damaging	1.00
R8755:Ano8	UTSW	8	71483080	missense	probably benign	0.11
R8871:Ano8	UTSW	8	71479300	missense	probably benign	0.39
R8903:Ano8	UTSW	8	71482190	critical splice acceptor site	probably null
R8990:Ano8	UTSW	8	71476557	missense	unknown
R9037:Ano8	UTSW	8	71484444	missense	probably damaging	1.00
R9379:Ano8	UTSW	8	71483534	missense	probably benign	0.28
R9432:Ano8	UTSW	8	71480917	missense	unknown
R9492:Ano8	UTSW	8	71482140	missense	possibly damaging	0.66
R9609:Ano8	UTSW	8	71481082	missense	unknown
X0026:Ano8	UTSW	8	71479157	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCGTGTTCACTTACCAAGACG -3'
(R):5'- TGATGCTTGGCTGCTTCCAG -3'

Sequencing Primer
(F):5'- AGACGACTTTGATGATAAGGTGCCTC -3'
(R):5'- CTTCCAGCTGCAGGTGATG -3'

Posted On

2019-11-12