Mutagenetix > Incidental Mutation

Incidental Mutation 'R5930:Ano5'

460166

Institutional Source

Beutler Lab

Gene Symbol

Ano5

Ensembl Gene

ENSMUSG00000055489

Gene Name

anoctamin 5

Synonyms

Gdd1, Tmem16e

MMRRC Submission

044125-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R5930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51511029-51598709 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51585331 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 671 (F671L)

Ref Sequence

ENSEMBL: ENSMUSP00000046884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043944] [ENSMUST00000207044] [ENSMUST00000207717]

AlphaFold

Q75UR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000043944
AA Change: F671L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: F671L

Domain	Start	End	E-Value	Type
low complexity region	42	55	N/A	INTRINSIC
Pfam:Anoct_dimer	64	280	7.7e-70	PFAM
Pfam:Anoctamin	283	860	6.5e-138	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207044
AA Change: F638L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207717
AA Change: F621L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.9266

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

94% (102/109)

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 have little anion conductance activity. Elevated levels of this protein were found in dystrophic mice. In humans, mutations of this gene are associated with with musculoskeletal disorders such as myopathies, muscular dystrophy and gnathodiaphyseal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: One type of homozygous KO causes abnormalities in skeletal muscle mitochondria and impairs muscle regeneration and repair, leading to exercise intolerance. Another type of homozygous KO impairs sperm motility, leading to male subfertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,397,451	V5572I	probably benign	Het
AF366264	T	A	8: 13,837,263	D276V	probably benign	Het
Agap1	C	T	1: 89,843,096	T656I	probably damaging	Het
Als2cl	C	T	9: 110,887,364	R247W	probably damaging	Het
Ankfy1	A	T	11: 72,712,245	R33S	probably benign	Het
Arhgap26	A	G	18: 39,150,092	M361V	probably damaging	Het
Bckdk	A	G	7: 127,905,973	E175G	probably damaging	Het
Bptf	G	T	11: 107,073,196	T1724K	probably damaging	Het
Btn2a2	T	A	13: 23,486,228	I112F	probably damaging	Het
Cd163l1	C	T	7: 140,230,446	P984S	probably benign	Het
Cln8	T	A	8: 14,896,621	W212R	probably damaging	Het
Cnbd1	T	C	4: 18,886,119	E300G	probably benign	Het
Cnksr3	T	C	10: 7,142,993	I173V	probably benign	Het
Cntn2	T	A	1: 132,523,432	D484V	probably damaging	Het
Cyp4a14	C	A	4: 115,491,410	G319V	probably damaging	Het
Cyp4f37	G	A	17: 32,629,983	R275Q	possibly damaging	Het
Def8	C	T	8: 123,460,070		probably benign	Het
Dnah10	T	C	5: 124,791,791		probably null	Het
Dock6	A	G	9: 21,824,416	V1012A	probably benign	Het
Dus3l	T	A	17: 56,769,579	N586K	probably damaging	Het
Dyrk2	T	A	10: 118,860,268	I362F	probably damaging	Het
Dyx1c1	T	C	9: 72,971,998	V356A	probably damaging	Het
Erc2	T	A	14: 27,776,858	D230E	probably damaging	Het
Fam102b	A	T	3: 108,980,152	S265R	probably benign	Het
Fat1	A	G	8: 45,044,036	H4186R	probably benign	Het
Fbxo44	A	G	4: 148,156,595	F179S	probably damaging	Het
Fech	A	G	18: 64,478,649		probably null	Het
Fer1l5	T	A	1: 36,385,173	C289*	probably null	Het
Fhl5	T	A	4: 25,214,756	D7V	probably benign	Het
Flvcr1	G	T	1: 191,009,551	T514K	probably damaging	Het
Fmo1	A	T	1: 162,839,616		probably null	Het
Gabra6	G	A	11: 42,307,441	T384M	probably benign	Het
Gli3	A	G	13: 15,548,625	Y117C	probably damaging	Het
Gnao1	A	G	8: 93,896,245	D59G	probably benign	Het
Gria2	T	C	3: 80,707,249	I495V	possibly damaging	Het
Hnf1b	C	A	11: 83,863,985	H161Q	probably benign	Het
Itga8	T	A	2: 12,230,208	D413V	possibly damaging	Het
Itpr3	A	T	17: 27,110,921	Q1563L	possibly damaging	Het
Kctd16	A	G	18: 40,530,829	N337S	probably benign	Het
Klra4	C	T	6: 130,053,053	V190M	possibly damaging	Het
Krtap4-9	T	A	11: 99,785,636		probably benign	Het
L3mbtl1	GGCCG	GG	2: 162,967,336		probably benign	Het
Mchr1	T	C	15: 81,237,843	F265L	probably damaging	Het
Megf8	T	A	7: 25,326,441	Y83*	probably null	Het
Mettl18	A	G	1: 163,997,177	M356V	probably null	Het
Mrm1	G	A	11: 84,819,192	R61W	probably damaging	Het
Muc4	A	T	16: 32,751,705	T528S	probably benign	Het
Myef2	A	T	2: 125,095,731	L530*	probably null	Het
Nhlrc4	T	C	17: 25,943,719	E18G	probably benign	Het
Nisch	C	T	14: 31,173,145	V1065I	probably benign	Het
Nlgn2	C	T	11: 69,834,149	R97H	probably damaging	Het
Nos2	T	C	11: 78,937,915	L321S	probably damaging	Het
Oaz3	T	C	3: 94,436,410	M49V	possibly damaging	Het
Olfm5	A	G	7: 104,154,155	V367A	probably damaging	Het
Olfr130	C	A	17: 38,067,750	A193D	probably benign	Het
Olfr1335	C	T	4: 118,809,378	R162H	probably benign	Het
Olfr564	A	T	7: 102,804,274	R265S	probably damaging	Het
Olfr742	C	A	14: 50,515,792	A196D	probably benign	Het
Olfr77	A	G	9: 19,920,910	K234E	probably damaging	Het
Omd	C	T	13: 49,589,636	P54L	possibly damaging	Het
Pard3b	T	A	1: 61,768,130		probably benign	Het
Pcdhb18	A	C	18: 37,491,935	I773L	possibly damaging	Het
Pde11a	T	C	2: 76,139,831		probably null	Het
Pfkfb4	A	C	9: 109,030,394		probably benign	Het
Phb2	T	G	6: 124,715,649	I260S	probably damaging	Het
Pkd1l1	G	A	11: 8,958,969	T345I	unknown	Het
Pla2g6	T	C	15: 79,303,528		probably benign	Het
Pou4f2	G	A	8: 78,436,391	S5F	unknown	Het
Ppp1r9a	A	T	6: 5,157,002		probably null	Het
Pramel5	A	G	4: 144,272,983	I178T	probably benign	Het
Prom2	C	T	2: 127,530,133	W745*	probably null	Het
Pros1	T	A	16: 62,928,061	N632K	probably damaging	Het
Rab4b	A	G	7: 27,174,502	I117T	probably benign	Het
Rbm25	T	A	12: 83,677,866	H796Q	possibly damaging	Het
Rnf151	A	T	17: 24,718,030		probably null	Het
Rps6ka1	A	T	4: 133,871,571	L97I	probably damaging	Het
Sergef	T	A	7: 46,443,464	T374S	probably benign	Het
Sh3rf3	G	T	10: 59,130,986	G717C	probably damaging	Het
Slc29a4	C	T	5: 142,721,402	T500I	possibly damaging	Het
Smc1b	T	A	15: 85,086,121	D977V	probably damaging	Het
Spata31d1d	C	T	13: 59,727,015	C902Y	probably benign	Het
St14	A	T	9: 31,103,760	V314D	probably damaging	Het
Stat3	A	T	11: 100,893,670	I602N	possibly damaging	Het
Stx4a	T	A	7: 127,846,489	I189N	probably damaging	Het
Tacc1	A	G	8: 25,182,199	S338P	probably benign	Het
Tcirg1	T	A	19: 3,902,424	T315S	possibly damaging	Het
Tenm4	A	T	7: 96,854,719	N1295I	probably damaging	Het
Tm7sf3	T	C	6: 146,603,911	K516E	possibly damaging	Het
Tmem198b	T	C	10: 128,801,454	E272G	possibly damaging	Het
Tnip3	A	G	6: 65,605,953	Q237R	probably damaging	Het
Trim15	C	T	17: 36,862,360		probably null	Het
Trim30a	T	A	7: 104,421,450	N252I	possibly damaging	Het
Ttc39a	A	G	4: 109,430,878	E227G	probably benign	Het
Ttll13	A	G	7: 80,253,166	E194G	probably damaging	Het
Upf1	G	A	8: 70,344,262	T107I	probably benign	Het
Vac14	A	G	8: 110,710,349	I565V	probably damaging	Het
Zcchc14	A	T	8: 121,611,358		probably benign	Het

Other mutations in Ano5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00653:Ano5	APN	7	51566513	missense	probably damaging	0.96
IGL01328:Ano5	APN	7	51556271	critical splice donor site	probably null
IGL01800:Ano5	APN	7	51573075	critical splice donor site	probably null
IGL01888:Ano5	APN	7	51566300	missense	probably benign	0.06
IGL02221:Ano5	APN	7	51570323	missense	probably damaging	1.00
IGL02538:Ano5	APN	7	51583775	missense	probably damaging	1.00
IGL03027:Ano5	APN	7	51566277	missense	probably damaging	0.99
IGL03133:Ano5	APN	7	51576512	nonsense	probably null
IGL03167:Ano5	APN	7	51585511	missense	probably damaging	0.98
IGL03233:Ano5	APN	7	51570368	missense	probably damaging	1.00
PIT4466001:Ano5	UTSW	7	51544851	missense	probably damaging	1.00
R0233:Ano5	UTSW	7	51535470	missense	possibly damaging	0.94
R0233:Ano5	UTSW	7	51535470	missense	possibly damaging	0.94
R0675:Ano5	UTSW	7	51574810	missense	probably damaging	1.00
R0723:Ano5	UTSW	7	51587758	missense	probably benign	0.20
R0764:Ano5	UTSW	7	51537842	splice site	probably benign
R1159:Ano5	UTSW	7	51579474	splice site	probably benign
R1218:Ano5	UTSW	7	51570421	splice site	probably null
R1288:Ano5	UTSW	7	51546872	missense	probably damaging	1.00
R1329:Ano5	UTSW	7	51546785	missense	probably benign
R1484:Ano5	UTSW	7	51566320	missense	probably damaging	1.00
R1496:Ano5	UTSW	7	51583775	missense	probably damaging	1.00
R1512:Ano5	UTSW	7	51579568	missense	probably benign	0.00
R1691:Ano5	UTSW	7	51590579	missense	probably damaging	1.00
R1859:Ano5	UTSW	7	51546833	missense	probably damaging	1.00
R1991:Ano5	UTSW	7	51537813	missense	possibly damaging	0.59
R2066:Ano5	UTSW	7	51585386	missense	probably damaging	1.00
R2088:Ano5	UTSW	7	51587706	missense	possibly damaging	0.50
R2103:Ano5	UTSW	7	51537813	missense	possibly damaging	0.59
R2248:Ano5	UTSW	7	51593789	missense	probably benign	0.00
R3692:Ano5	UTSW	7	51590579	missense	probably damaging	1.00
R3723:Ano5	UTSW	7	51576528	missense	probably damaging	1.00
R3805:Ano5	UTSW	7	51576650	missense	probably benign	0.22
R3883:Ano5	UTSW	7	51566304	missense	probably damaging	1.00
R3978:Ano5	UTSW	7	51587806	missense	probably benign
R4035:Ano5	UTSW	7	51566485	splice site	probably benign
R4239:Ano5	UTSW	7	51587666	missense	probably damaging	0.99
R4466:Ano5	UTSW	7	51570275	missense	probably damaging	1.00
R4644:Ano5	UTSW	7	51587685	nonsense	probably null
R5021:Ano5	UTSW	7	51556185	missense	probably benign
R5028:Ano5	UTSW	7	51537710	splice site	probably null
R5609:Ano5	UTSW	7	51593637	missense	probably damaging	1.00
R5659:Ano5	UTSW	7	51583814	missense	possibly damaging	0.94
R5660:Ano5	UTSW	7	51583814	missense	possibly damaging	0.94
R5680:Ano5	UTSW	7	51583814	missense	possibly damaging	0.94
R5786:Ano5	UTSW	7	51566318	missense	possibly damaging	0.88
R5787:Ano5	UTSW	7	51566318	missense	possibly damaging	0.88
R5788:Ano5	UTSW	7	51566318	missense	possibly damaging	0.88
R5856:Ano5	UTSW	7	51585326	missense	probably benign	0.01
R5984:Ano5	UTSW	7	51593664	missense	probably damaging	1.00
R6015:Ano5	UTSW	7	51574777	missense	probably benign	0.00
R6030:Ano5	UTSW	7	51574825	missense	probably damaging	1.00
R6030:Ano5	UTSW	7	51574825	missense	probably damaging	1.00
R6247:Ano5	UTSW	7	51566131	splice site	probably null
R7552:Ano5	UTSW	7	51546780	missense	probably benign	0.31
R7559:Ano5	UTSW	7	51574888	missense	probably damaging	1.00
R7712:Ano5	UTSW	7	51573057	missense	probably benign	0.00
R7712:Ano5	UTSW	7	51590655	missense	probably damaging	1.00
R7805:Ano5	UTSW	7	51537800	missense	probably damaging	0.97
R7808:Ano5	UTSW	7	51587795	missense	possibly damaging	0.53
R7840:Ano5	UTSW	7	51587732	missense	possibly damaging	0.88
R7886:Ano5	UTSW	7	51570393	missense	probably benign	0.12
R7975:Ano5	UTSW	7	51566538	missense	probably null	0.98
R8006:Ano5	UTSW	7	51593770	missense	probably benign	0.05
R8060:Ano5	UTSW	7	51587783	missense	probably benign	0.01
R8084:Ano5	UTSW	7	51579539	missense	probably benign	0.01
R8351:Ano5	UTSW	7	51553878	missense	probably benign	0.10
R8504:Ano5	UTSW	7	51573028	missense	probably benign	0.01
R8699:Ano5	UTSW	7	51593771	missense	probably benign
R8710:Ano5	UTSW	7	51593671	missense	probably damaging	1.00
R8752:Ano5	UTSW	7	51546869	missense	probably damaging	1.00
R8771:Ano5	UTSW	7	51566347	missense	probably damaging	0.99
R8771:Ano5	UTSW	7	51570299	nonsense	probably null
R8815:Ano5	UTSW	7	51544800	nonsense	probably null
R9057:Ano5	UTSW	7	51553906	missense	probably benign	0.05
R9118:Ano5	UTSW	7	51570374	missense	probably damaging	0.99
R9217:Ano5	UTSW	7	51593667	missense	probably damaging	1.00
R9462:Ano5	UTSW	7	51585452	missense	probably benign	0.19
R9699:Ano5	UTSW	7	51579561	missense	probably damaging	1.00
X0062:Ano5	UTSW	7	51593651	nonsense	probably null
X0065:Ano5	UTSW	7	51576628	nonsense	probably null
Z1176:Ano5	UTSW	7	51574703	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTGAGTCTAACACCTTGAAACAC -3'
(R):5'- TGCAACAGAAACGATGGCC -3'

Sequencing Primer
(F):5'- TTGAAACACACACTGCCTCTC -3'
(R):5'- CATTCCAAAAAGAATGTCTTGCCAG -3'

Posted On

2017-02-28