Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03133:Ano5'

410408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano5

Ensembl Gene

ENSMUSG00000055489

Gene Name

anoctamin 5

Synonyms

Gdd1, Tmem16e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

51511029-51598709 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 51576512 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 505 (R505*)

Ref Sequence

ENSEMBL: ENSMUSP00000147243 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000043944
AA Change: R538*

SMART Domains

Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: R538*

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 null
Transcript: ENSMUST00000207044
AA Change: R505*

Predicted Effect

probably benign
Transcript: ENSMUST00000207717

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,896		probably benign	Het
Asphd1	A	G	7: 126,948,280	C284R	possibly damaging	Het
Cep192	T	A	18: 67,810,105	W158R	probably benign	Het
Ces2h	T	A	8: 105,016,779	D188E	probably damaging	Het
Dab1	G	A	4: 104,727,580	V306I	probably benign	Het
Dcc	A	G	18: 71,262,955		probably benign	Het
Dennd6b	T	A	15: 89,188,523		probably null	Het
Dmwd	T	A	7: 19,076,637	V123D	probably damaging	Het
Eno1	A	G	4: 150,245,344		probably benign	Het
Fat2	G	A	11: 55,286,043	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,389,392	S274P	probably benign	Het
Gmpr	T	C	13: 45,517,018	V72A	probably benign	Het
Kank2	T	C	9: 21,795,641	E27G	probably null	Het
Mtor	G	T	4: 148,484,319	A1099S	probably benign	Het
Ofcc1	T	C	13: 40,072,768	I763V	probably benign	Het
Olfr1023	G	T	2: 85,887,134	E111D	probably damaging	Het
Olfr1065	A	G	2: 86,445,658	I108T	probably damaging	Het
Olfr487	G	T	7: 108,212,387	S47R	possibly damaging	Het
Olfr870	T	A	9: 20,170,713	N286I	probably damaging	Het
Piwil1	C	A	5: 128,742,029	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,034,985	Y114H	probably benign	Het
Stx7	A	T	10: 24,185,038	N221I	probably damaging	Het
Tbc1d31	A	T	15: 57,942,459		probably benign	Het
Ubxn7	T	G	16: 32,381,781	L393R	probably damaging	Het
Vit	A	T	17: 78,566,071	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,985,615	C92S	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
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
R5930:Ano5	UTSW	7	51585331	missense	probably damaging	0.99
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
R8504:Ano5	UTSW	7	51573028	missense	probably benign	0.01
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

Posted On

2016-08-02