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

045768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71928663-71938607 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71934933 bp (GRCm39)

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: 124,201,334 (GRCm39)	I443T	probably damaging	Het
2310002L09Rik	A	G	4: 73,861,091 (GRCm39)	C170R	possibly damaging	Het
4933415A04Rik	GTGTGTGTGTATGTGTGTGT	GTGTGTGTGT	11: 43,478,237 (GRCm39)		probably null	Het
A2m	A	C	6: 121,637,063 (GRCm39)	T809P	possibly damaging	Het
Abca12	T	C	1: 71,374,887 (GRCm39)	D340G	probably benign	Het
Abcg8	A	T	17: 84,999,919 (GRCm39)	D191V	probably damaging	Het
Acan	G	T	7: 78,739,356 (GRCm39)	V255F	probably damaging	Het
Ace	G	A	11: 105,879,663 (GRCm39)	V1248I	probably benign	Het
Adgre1	A	T	17: 57,709,519 (GRCm39)	Q87L	unknown	Het
Adgrl1	G	A	8: 84,665,617 (GRCm39)	V1435M	probably benign	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Arl5a	T	C	2: 52,295,068 (GRCm39)	D114G	probably benign	Het
B3galt9	T	G	2: 34,728,437 (GRCm39)	C79G	probably damaging	Het
Baiap2l2	G	T	15: 79,143,911 (GRCm39)	N394K	probably benign	Het
Cap1	A	T	4: 122,756,467 (GRCm39)	C355S	probably damaging	Het
Ccdc25	A	T	14: 66,077,933 (GRCm39)	D22V	probably damaging	Het
Ceacam2	T	C	7: 25,238,076 (GRCm39)	D116G	probably damaging	Het
Clec4b2	A	G	6: 123,149,974 (GRCm39)		probably benign	Het
CN725425	C	A	15: 91,124,930 (GRCm39)	R157S	probably benign	Het
Coq8b	T	C	7: 26,949,962 (GRCm39)	I347T	probably damaging	Het
Ctbp2	C	A	7: 132,591,789 (GRCm39)	V338L	probably benign	Het
Cyp2d22	A	G	15: 82,258,612 (GRCm39)	V83A	possibly damaging	Het
Daam1	G	A	12: 72,024,423 (GRCm39)	R797H	probably benign	Het
Dab1	C	A	4: 104,577,756 (GRCm39)	S275*	probably null	Het
Dgkz	T	C	2: 91,767,404 (GRCm39)	E863G	probably benign	Het
Dhx34	G	A	7: 15,946,789 (GRCm39)	A515V	possibly damaging	Het
Dnah14	T	C	1: 181,530,049 (GRCm39)		probably null	Het
Dnmt3b	C	A	2: 153,514,140 (GRCm39)	N384K	probably benign	Het
Dock5	A	G	14: 68,033,454 (GRCm39)	Y972H	probably benign	Het
Etv5	A	T	16: 22,231,597 (GRCm39)	Y138*	probably null	Het
Fdps	A	G	3: 89,008,397 (GRCm39)	S4P	probably damaging	Het
Gart	A	G	16: 91,419,853 (GRCm39)	F885L	possibly damaging	Het
Gm32687	A	T	10: 81,715,328 (GRCm39)	H240L	probably damaging	Het
Gm4553	C	T	7: 141,719,384 (GRCm39)	G15R	unknown	Het
Gm572	C	T	4: 148,753,408 (GRCm39)	T351M	probably damaging	Het
Gpr3	A	T	4: 132,937,748 (GRCm39)	L308Q	probably damaging	Het
Gpsm2	A	G	3: 108,609,097 (GRCm39)	V174A	probably benign	Het
Gucy1a1	T	C	3: 82,002,096 (GRCm39)	H661R	unknown	Het
Heatr4	A	T	12: 84,004,499 (GRCm39)	M774K	probably damaging	Het
Hmgcr	A	G	13: 96,799,605 (GRCm39)	I163T	possibly damaging	Het
Ift81	C	T	5: 122,747,394 (GRCm39)	V91M	probably damaging	Het
Igsf10	G	T	3: 59,238,964 (GRCm39)	Q406K	probably damaging	Het
Il10ra	A	G	9: 45,171,697 (GRCm39)	V257A	probably benign	Het
Ina	A	T	19: 47,012,082 (GRCm39)	K500I		Het
Lce1i	A	T	3: 92,685,066 (GRCm39)	C37S	unknown	Het
Lrrc59	A	T	11: 94,525,811 (GRCm39)	D133V	probably damaging	Het
Magi3	A	G	3: 103,941,354 (GRCm39)	I867T	probably damaging	Het
Mmaa	T	A	8: 79,995,830 (GRCm39)	R298W	probably damaging	Het
Mon1a	G	T	9: 107,777,327 (GRCm39)	V77F	probably benign	Het
Mrc2	A	G	11: 105,237,285 (GRCm39)	T1030A	probably benign	Het
Mrps27	T	A	13: 99,541,504 (GRCm39)	S162T	probably benign	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Mtus1	A	G	8: 41,507,687 (GRCm39)	I21T	possibly damaging	Het
Myh2	T	C	11: 67,085,690 (GRCm39)	V1844A	probably benign	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Nbr1	T	G	11: 101,447,067 (GRCm39)	F18V	probably damaging	Het
Npy2r	T	C	3: 82,447,689 (GRCm39)	N362S	probably benign	Het
Ocln	T	A	13: 100,676,106 (GRCm39)	Y129F	probably damaging	Het
Or2t1	T	C	14: 14,328,384 (GRCm38)	I91T	probably damaging	Het
Or4c10	T	C	2: 89,760,225 (GRCm39)	I24T	probably benign	Het
Or8c20	A	G	9: 38,260,573 (GRCm39)	M59V	probably benign	Het
Pik3c2b	T	G	1: 133,007,579 (GRCm39)		probably null	Het
Prss39	A	G	1: 34,541,709 (GRCm39)	D262G	probably damaging	Het
Ptk7	T	A	17: 46,882,569 (GRCm39)	D886V	possibly damaging	Het
Ptprg	T	A	14: 12,226,452 (GRCm38)	D1348E	probably damaging	Het
Rabgap1	T	C	2: 37,427,339 (GRCm39)	I640T	possibly damaging	Het
Rogdi	A	G	16: 4,827,098 (GRCm39)	Y303H	probably damaging	Het
Rps6kb1	A	T	11: 86,404,148 (GRCm39)	M283K	probably damaging	Het
Sardh	T	A	2: 27,131,529 (GRCm39)	T188S	possibly damaging	Het
Sebox	A	G	11: 78,394,919 (GRCm39)	E87G	probably damaging	Het
Smchd1	A	T	17: 71,665,193 (GRCm39)	M1830K	probably damaging	Het
Spata31h1	A	C	10: 82,126,366 (GRCm39)	S2215A	possibly damaging	Het
Spink8	G	A	9: 109,645,848 (GRCm39)	V7I	probably benign	Het
Src	G	A	2: 157,299,164 (GRCm39)	V54M	probably benign	Het
Taar2	A	G	10: 23,816,621 (GRCm39)	I54V	probably benign	Het
Tpo	A	T	12: 30,181,859 (GRCm39)	V12E	possibly damaging	Het
Txk	T	C	5: 72,864,918 (GRCm39)	D373G	probably damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Vil1	C	T	1: 74,465,754 (GRCm39)	T515M	probably benign	Het
Wdr47	G	T	3: 108,525,837 (GRCm39)	C120F	probably damaging	Het
Ylpm1	C	T	12: 85,059,799 (GRCm39)	P335L	unknown	Het
Zfp148	T	A	16: 33,288,545 (GRCm39)	I220N	probably damaging	Het
Zfp992	A	T	4: 146,551,622 (GRCm39)	K448*	probably null	Het
Zfp994	T	C	17: 22,419,406 (GRCm39)	I514M	probably benign	Het
Zp2	A	T	7: 119,734,998 (GRCm39)	I429N	probably damaging	Het

Other mutations in Ano8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Ano8	APN	8	71,936,902 (GRCm39)	splice site	probably benign
IGL00501:Ano8	APN	8	71,931,793 (GRCm39)	critical splice donor site	probably null
IGL01380:Ano8	APN	8	71,933,453 (GRCm39)	unclassified	probably benign
IGL02138:Ano8	APN	8	71,937,486 (GRCm39)	missense	probably damaging	0.99
IGL02516:Ano8	APN	8	71,937,721 (GRCm39)	missense	probably damaging	1.00
IGL02675:Ano8	APN	8	71,936,184 (GRCm39)	missense	probably damaging	0.99
IGL02995:Ano8	APN	8	71,935,761 (GRCm39)	missense	possibly damaging	0.72
H8786:Ano8	UTSW	8	71,931,388 (GRCm39)	unclassified	probably benign
R0265:Ano8	UTSW	8	71,933,168 (GRCm39)	unclassified	probably benign
R0282:Ano8	UTSW	8	71,933,258 (GRCm39)	unclassified	probably benign
R0518:Ano8	UTSW	8	71,931,902 (GRCm39)	missense	probably benign	0.39
R0521:Ano8	UTSW	8	71,931,902 (GRCm39)	missense	probably benign	0.39
R1028:Ano8	UTSW	8	71,933,615 (GRCm39)	small deletion	probably benign
R1147:Ano8	UTSW	8	71,934,661 (GRCm39)	missense	probably damaging	1.00
R1147:Ano8	UTSW	8	71,934,661 (GRCm39)	missense	probably damaging	1.00
R1748:Ano8	UTSW	8	71,931,602 (GRCm39)	unclassified	probably benign
R1852:Ano8	UTSW	8	71,936,131 (GRCm39)	missense	probably damaging	0.99
R4161:Ano8	UTSW	8	71,935,281 (GRCm39)	missense	probably damaging	1.00
R4192:Ano8	UTSW	8	71,935,936 (GRCm39)	missense	probably damaging	1.00
R4274:Ano8	UTSW	8	71,931,385 (GRCm39)	unclassified	probably benign
R4834:Ano8	UTSW	8	71,936,939 (GRCm39)	missense	probably damaging	1.00
R4961:Ano8	UTSW	8	71,935,640 (GRCm39)	missense	probably damaging	1.00
R5252:Ano8	UTSW	8	71,935,261 (GRCm39)	missense	probably damaging	1.00
R5553:Ano8	UTSW	8	71,937,641 (GRCm39)	splice site	probably null
R5598:Ano8	UTSW	8	71,935,221 (GRCm39)	missense	probably damaging	1.00
R5695:Ano8	UTSW	8	71,935,887 (GRCm39)	missense	probably damaging	0.98
R5994:Ano8	UTSW	8	71,937,478 (GRCm39)	missense	probably damaging	1.00
R6019:Ano8	UTSW	8	71,935,024 (GRCm39)	missense	probably damaging	1.00
R6153:Ano8	UTSW	8	71,933,441 (GRCm39)	unclassified	probably benign
R6405:Ano8	UTSW	8	71,935,674 (GRCm39)	missense	probably damaging	1.00
R6516:Ano8	UTSW	8	71,934,424 (GRCm39)	splice site	probably null
R6539:Ano8	UTSW	8	71,937,127 (GRCm39)	missense	probably damaging	1.00
R7194:Ano8	UTSW	8	71,935,007 (GRCm39)	missense	possibly damaging	0.66
R7204:Ano8	UTSW	8	71,931,669 (GRCm39)	missense	probably benign	0.39
R7340:Ano8	UTSW	8	71,935,655 (GRCm39)	missense	probably damaging	0.99
R7365:Ano8	UTSW	8	71,937,754 (GRCm39)	missense	probably damaging	1.00
R7417:Ano8	UTSW	8	71,933,477 (GRCm39)	missense	unknown
R7486:Ano8	UTSW	8	71,937,642 (GRCm39)	critical splice donor site	probably null
R7644:Ano8	UTSW	8	71,937,474 (GRCm39)	missense	probably damaging	0.98
R7719:Ano8	UTSW	8	71,935,784 (GRCm39)	missense	possibly damaging	0.82
R8040:Ano8	UTSW	8	71,934,812 (GRCm39)	missense	probably benign	0.26
R8219:Ano8	UTSW	8	71,933,357 (GRCm39)	missense	unknown
R8355:Ano8	UTSW	8	71,933,210 (GRCm39)	unclassified	probably benign
R8401:Ano8	UTSW	8	71,936,011 (GRCm39)	missense	probably damaging	1.00
R8713:Ano8	UTSW	8	71,937,721 (GRCm39)	missense	probably damaging	1.00
R8755:Ano8	UTSW	8	71,935,724 (GRCm39)	missense	probably benign	0.11
R8871:Ano8	UTSW	8	71,931,944 (GRCm39)	missense	probably benign	0.39
R8903:Ano8	UTSW	8	71,934,834 (GRCm39)	critical splice acceptor site	probably null
R8990:Ano8	UTSW	8	71,929,201 (GRCm39)	missense	unknown
R9037:Ano8	UTSW	8	71,937,088 (GRCm39)	missense	probably damaging	1.00
R9379:Ano8	UTSW	8	71,936,178 (GRCm39)	missense	probably benign	0.28
R9432:Ano8	UTSW	8	71,933,561 (GRCm39)	missense	unknown
R9492:Ano8	UTSW	8	71,934,784 (GRCm39)	missense	possibly damaging	0.66
R9609:Ano8	UTSW	8	71,933,726 (GRCm39)	missense	unknown
X0026:Ano8	UTSW	8	71,931,801 (GRCm39)	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