Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00338:Ano8'

5024

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano8

Ensembl Gene

ENSMUSG00000034863

Gene Name

anoctamin 8

Synonyms

Tmem16h

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00338

Quality Score

Status

Chromosome

Chromosomal Location

71928663-71938607 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 71936902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007754] [ENSMUST00000093450] [ENSMUST00000095259] [ENSMUST00000127741] [ENSMUST00000150969] [ENSMUST00000213382] [ENSMUST00000168847]

AlphaFold

Q6PB70

Predicted Effect

probably benign
Transcript: ENSMUST00000007754

SMART Domains

Protein: ENSMUSP00000007754
Gene: ENSMUSG00000007610

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TrmE_N	35	152	1.8e-36	PFAM
Pfam:FeoB_N	250	390	3.9e-6	PFAM
Pfam:MMR_HSR1	251	375	1.6e-18	PFAM
Pfam:GTPase_Cys_C	421	489	9.9e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093450

SMART Domains

Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863

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 benign
Transcript: ENSMUST00000095259

SMART Domains

Protein: ENSMUSP00000092892
Gene: ENSMUSG00000007610

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TrmE_N	35	152	4.1e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124349

Predicted Effect

probably benign
Transcript: ENSMUST00000127741

SMART Domains

Protein: ENSMUSP00000123082
Gene: ENSMUSG00000007610

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TrmE_N	35	152	2.2e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132907

Predicted Effect

probably benign
Transcript: ENSMUST00000150969

SMART Domains

Protein: ENSMUSP00000114193
Gene: ENSMUSG00000007610

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TrmE_N	35	152	1.8e-36	PFAM
Pfam:FeoB_N	250	390	3.9e-6	PFAM
Pfam:MMR_HSR1	251	375	1.6e-18	PFAM
Pfam:GTPase_Cys_C	421	489	9.9e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212768

Predicted Effect

probably benign
Transcript: ENSMUST00000213382

Predicted Effect

probably benign
Transcript: ENSMUST00000168847

SMART Domains

Protein: ENSMUSP00000126761
Gene: ENSMUSG00000007610

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TrmE_N	35	153	3e-35	PFAM
Pfam:MnmE_helical	156	490	2e-48	PFAM
Pfam:FeoB_N	251	390	1.5e-7	PFAM
Pfam:MMR_HSR1	252	376	1.5e-20	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	A	G	5: 135,040,839 (GRCm39)	D217G	probably benign	Het
Ankar	T	A	1: 72,729,290 (GRCm39)	Y285F	probably damaging	Het
Bche	A	G	3: 73,608,640 (GRCm39)	V262A	probably benign	Het
Car13	T	C	3: 14,721,964 (GRCm39)		probably benign	Het
Cd244a	T	A	1: 171,401,938 (GRCm39)		probably null	Het
Cfap157	T	C	2: 32,671,395 (GRCm39)	D137G	probably damaging	Het
Cobl	T	C	11: 12,325,813 (GRCm39)	R119G	possibly damaging	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gp2	A	G	7: 119,053,613 (GRCm39)	M116T	probably damaging	Het
Gp5	C	A	16: 30,127,640 (GRCm39)	A345S	probably benign	Het
Gphn	A	T	12: 78,551,406 (GRCm39)	I285F	probably damaging	Het
Heatr5b	A	G	17: 79,110,863 (GRCm39)	V995A	probably damaging	Het
Hecw2	T	C	1: 53,867,040 (GRCm39)		probably benign	Het
Hydin	C	A	8: 111,296,434 (GRCm39)	N3654K	possibly damaging	Het
Inpp5b	A	G	4: 124,678,168 (GRCm39)	Y440C	possibly damaging	Het
Or4a47	A	T	2: 89,665,802 (GRCm39)	Y162*	probably null	Het
Pphln1	A	G	15: 93,363,091 (GRCm39)	K306E	probably damaging	Het
Rnf26	A	C	9: 44,024,156 (GRCm39)	S31A	probably benign	Het
Ros1	A	T	10: 52,001,907 (GRCm39)	S1072T	probably benign	Het
Skic2	A	G	17: 35,065,643 (GRCm39)	W304R	probably damaging	Het
Slc22a14	A	G	9: 119,007,579 (GRCm39)	F277L	possibly damaging	Het
Slc22a26	A	T	19: 7,760,340 (GRCm39)	L468I	probably benign	Het
Tchh	C	T	3: 93,354,951 (GRCm39)	L1464F	unknown	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Ttn	A	G	2: 76,804,409 (GRCm39)	S288P	probably damaging	Het
Usp17lc	A	G	7: 103,068,148 (GRCm39)	H481R	possibly damaging	Het
Vps50	C	T	6: 3,602,670 (GRCm39)	T929M	probably benign	Het
Zdhhc8	A	G	16: 18,043,060 (GRCm39)	L380P	possibly damaging	Het

Other mutations in Ano8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7709:Ano8	UTSW	8	71,934,933 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2012-04-20