Mutagenetix > Incidental Mutations

Incidental Mutation 'R7644:Ano8'

590429

Institutional Source

Beutler Lab

Gene Symbol

Ano8

Ensembl Gene

ENSMUSG00000034863

Gene Name

anoctamin 8

Synonyms

Tmem16h

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7644 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71476019-71485963 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71484830 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 90 (G90D)

Ref Sequence

ENSEMBL: ENSMUSP00000091157 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000093450
AA Change: G90D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: G90D

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

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

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

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213382
AA Change: G90D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	C	T	2: 30,797,954	R209Q	possibly damaging	Het
2410089E03Rik	T	A	15: 8,223,127	D1944E	probably benign	Het
Abl2	A	G	1: 156,615,993	D24G	probably benign	Het
Adar	C	T	3: 89,745,519	A754V	probably benign	Het
Adcy8	C	T	15: 64,699,369	V1172I	possibly damaging	Het
Adgrl2	C	T	3: 148,839,153	V769M	probably damaging	Het
Akna	T	A	4: 63,395,397	Q163L	possibly damaging	Het
Alox15	C	T	11: 70,345,542	A511T	probably null	Het
Aqp5	G	A	15: 99,594,226	R235H	probably damaging	Het
B3galt4	A	T	17: 33,950,445	V273E	probably damaging	Het
Ccdc125	C	T	13: 100,678,376		probably null	Het
Ccdc90b	A	G	7: 92,567,660	R47G	possibly damaging	Het
Celsr2	G	T	3: 108,413,490	L669I	probably damaging	Het
Clasp1	T	G	1: 118,512,750		probably null	Het
Clec4a2	C	T	6: 123,125,015	P43L	probably benign	Het
Cntn1	T	C	15: 92,310,009	I827T	probably benign	Het
Col9a1	G	T	1: 24,185,162	V142F	unknown	Het
Cts7	G	T	13: 61,356,968	Y23*	probably null	Het
Dcdc2a	T	A	13: 25,107,691	Y220N	probably damaging	Het
Dmxl1	T	G	18: 49,893,552	V1909G	probably benign	Het
Ehd2	G	A	7: 15,957,549	P286L	possibly damaging	Het
Elf3	G	T	1: 135,256,506	A208E	possibly damaging	Het
Eml5	A	G	12: 98,855,944	I775T	probably benign	Het
Ephb1	T	C	9: 101,936,194	T791A	probably damaging	Het
Fanci	C	A	7: 79,444,471	S1105*	probably null	Het
Fastkd1	T	A	2: 69,696,840		probably null	Het
Fat4	A	G	3: 39,010,241	E4782G	possibly damaging	Het
Fnta	T	C	8: 26,013,488	I90V	probably damaging	Het
Fosl1	C	T	19: 5,450,304	R84*	probably null	Het
Gdf2	T	C	14: 33,944,890	F190L	probably benign	Het
Gzmn	T	A	14: 56,167,319	Q88L	probably damaging	Het
Hat1	T	A	2: 71,410,181	L73Q	probably damaging	Het
Hdhd2	G	A	18: 76,944,175	G109E	possibly damaging	Het
Il22ra1	A	G	4: 135,733,035	N34S	probably damaging	Het
Ino80d	T	C	1: 63,058,771	T760A	probably benign	Het
Itga7	A	G	10: 128,953,501	D971G	probably benign	Het
Kdm6b	T	C	11: 69,400,206	N1574S	unknown	Het
Kel	T	C	6: 41,690,808	E400G	probably benign	Het
Kif22	G	A	7: 127,032,962	T350I	probably damaging	Het
Kif26b	A	G	1: 178,679,274	N305S	probably benign	Het
Klk12	A	C	7: 43,769,710	Q33P	probably damaging	Het
Klk1b24	G	A	7: 44,191,880		probably null	Het
Krtap31-1	T	A	11: 99,908,222	C84S	possibly damaging	Het
Ky	T	A	9: 102,537,773	S295T	probably benign	Het
Lpin3	T	A	2: 160,896,770	M214K	probably benign	Het
Mak	T	A	13: 41,030,110	N565Y	probably benign	Het
Mphosph6	T	C	8: 117,801,884	T7A	probably benign	Het
Muc6	G	C	7: 141,637,746	P2338R	probably damaging	Het
Myh11	T	C	16: 14,221,824	T814A		Het
Nmbr	T	C	10: 14,760,689	L134P	probably damaging	Het
Nup107	C	T	10: 117,770,470	V456M	probably damaging	Het
Olfr504	A	G	7: 108,565,442	S118P	possibly damaging	Het
Olfr936	C	A	9: 39,047,342	D26Y	probably damaging	Het
Pink1	A	T	4: 138,317,372	H351Q	probably damaging	Het
Piwil4	A	T	9: 14,734,415		probably null	Het
Pkd1l1	C	A	11: 8,875,758	V1498F		Het
Polb	A	G	8: 22,640,427	I161T	probably benign	Het
Polg	A	T	7: 79,451,668	L1097Q	probably damaging	Het
Prelp	T	C	1: 133,914,618	N263S	probably benign	Het
Pten	T	C	19: 32,811,834	C211R	probably damaging	Het
Ptprc	G	A	1: 138,067,907	A1012V	probably benign	Het
Ptprr	T	A	10: 116,048,228	H63Q	probably benign	Het
Rapsn	A	T	2: 91,041,954	H211L	possibly damaging	Het
Reln	T	C	5: 21,978,931	N1690S	probably benign	Het
Rpap2	A	G	5: 107,620,301	E335G	probably benign	Het
Rspry1	T	A	8: 94,658,768	S567T	probably benign	Het
Sf3b1	G	A	1: 54,997,143	R924*	probably null	Het
Sftpb	G	A	6: 72,309,835	E241K	probably benign	Het
Smarca4	G	T	9: 21,655,654	A677S	probably benign	Het
Srrm2	G	A	17: 23,819,320	R1646Q	unknown	Het
St5	A	T	7: 109,556,793	L250*	probably null	Het
Tex15	T	A	8: 33,574,417	C1292S	probably benign	Het
Tmem140	A	G	6: 34,872,773	I75V	probably benign	Het
Trhr2	T	A	8: 122,357,322	Q313L	possibly damaging	Het
Trim35	A	G	14: 66,297,097	T10A	unknown	Het
Ttn	T	C	2: 76,919,780	I3642V	probably benign	Het
Ugt1a2	T	C	1: 88,200,785	L50P	probably damaging	Het
Unc13a	C	A	8: 71,634,538	V1522L	probably benign	Het
Usp33	A	G	3: 152,357,952	D21G	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,691	Q161*	probably null	Het
Vmn2r117	A	T	17: 23,477,291	W381R	probably damaging	Het
Vmn2r16	G	C	5: 109,339,971	A237P	probably damaging	Het
Vmn2r74	A	G	7: 85,957,538	V200A	probably benign	Het
Yjefn3	C	T	8: 69,887,894	V227M	probably damaging	Het
Zfp652	T	C	11: 95,750,088	F280L	probably damaging	Het
Zfp748	G	A	13: 67,541,449	T564I	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
R7709:Ano8	UTSW	8	71482289	missense	probably damaging	1.00
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
X0026:Ano8	UTSW	8	71479157	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGCCACATCTTAGGACAAACG -3'
(R):5'- ATGGATGAAGACAGTGCCCAC -3'

Sequencing Primer
(F):5'- CGAATAGTTAGCACAGTTGGTC -3'
(R):5'- ACTGCGACGTGCTCATGAC -3'

Posted On

2019-10-24