Mutagenetix > Incidental Mutation

Incidental Mutation 'R3723:Ano5'

270629

Institutional Source

Beutler Lab

Gene Symbol

Ano5

Ensembl Gene

ENSMUSG00000055489

Gene Name

anoctamin 5

Synonyms

Tmem16e, Gdd1

MMRRC Submission

040714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R3723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51160777-51248457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51226276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 510 (Y510C)

Ref Sequence

ENSEMBL: ENSMUSP00000147243 (fasta)

Gene Model

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

AlphaFold

Q75UR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000043944
AA Change: Y543C

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

SMART Domains

Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: Y543C

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: Y510C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207717

Meta Mutation Damage Score

0.3063

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

95% (38/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,994,217 (GRCm39)	V5167A	possibly damaging	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Apob	A	T	12: 8,056,327 (GRCm39)	Q1570L	probably damaging	Het
Apob	A	G	12: 8,061,763 (GRCm39)	N3415S	possibly damaging	Het
Arsk	T	A	13: 76,214,772 (GRCm39)	I361F	probably damaging	Het
C9	G	A	15: 6,512,561 (GRCm39)	E228K	possibly damaging	Het
Celsr2	A	G	3: 108,304,731 (GRCm39)		probably benign	Het
Cfap53	A	G	18: 74,492,640 (GRCm39)	I455V	probably benign	Het
Ckap4	A	G	10: 84,364,256 (GRCm39)	L269P	probably damaging	Het
Dnah7a	T	A	1: 53,486,505 (GRCm39)	D3352V	probably benign	Het
Dync2h1	A	T	9: 7,041,658 (GRCm39)	M3335K	probably benign	Het
Fam171a1	A	G	2: 3,221,412 (GRCm39)		probably benign	Het
Glis3	A	T	19: 28,239,991 (GRCm39)	C97*	probably null	Het
Gm14221	C	G	2: 160,410,347 (GRCm39)		noncoding transcript	Het
Gm8603	A	C	17: 13,737,075 (GRCm39)		probably null	Het
Gm9767	G	T	10: 25,954,469 (GRCm39)		probably benign	Het
Kctd16	A	G	18: 40,391,912 (GRCm39)	T167A	possibly damaging	Het
Kif18b	A	G	11: 102,807,102 (GRCm39)	F78L	probably damaging	Het
Mefv	A	G	16: 3,526,058 (GRCm39)		probably null	Het
Mipol1	C	A	12: 57,503,878 (GRCm39)	L349I	probably damaging	Het
Myo10	T	C	15: 25,803,374 (GRCm39)	V1527A	probably damaging	Het
Naip5	G	T	13: 100,359,522 (GRCm39)	Y571*	probably null	Het
Npl	A	G	1: 153,391,210 (GRCm39)	F182L	probably benign	Het
Pan3	T	A	5: 147,440,018 (GRCm39)		probably benign	Het
Pcdh15	A	T	10: 74,481,680 (GRCm39)	T342S	probably benign	Het
Pcdhga1	A	G	18: 37,796,045 (GRCm39)	T350A	possibly damaging	Het
Pramel28	T	C	4: 143,693,251 (GRCm39)	T76A	probably benign	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Rere	A	G	4: 150,553,252 (GRCm39)	E148G	probably damaging	Het
Scube2	T	C	7: 109,407,613 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,087,335 (GRCm39)	S1035P	possibly damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Supt3	A	G	17: 45,305,274 (GRCm39)	D108G	probably damaging	Het
Tnfsf13b	A	G	8: 10,081,545 (GRCm39)	I236V	possibly damaging	Het
Tns1	T	C	1: 73,964,099 (GRCm39)	S1511G	probably damaging	Het
Tpm1	G	A	9: 66,939,227 (GRCm39)		probably benign	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Vmn1r117	T	A	7: 20,617,380 (GRCm39)	I223F	probably damaging	Het
Vmn2r91	G	A	17: 18,305,540 (GRCm39)		probably null	Het
Zfp30	A	G	7: 29,492,778 (GRCm39)	E344G	probably damaging	Het

Other mutations in Ano5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00653:Ano5	APN	7	51,216,261 (GRCm39)	missense	probably damaging	0.96
IGL01328:Ano5	APN	7	51,206,019 (GRCm39)	critical splice donor site	probably null
IGL01800:Ano5	APN	7	51,222,823 (GRCm39)	critical splice donor site	probably null
IGL01888:Ano5	APN	7	51,216,048 (GRCm39)	missense	probably benign	0.06
IGL02221:Ano5	APN	7	51,220,071 (GRCm39)	missense	probably damaging	1.00
IGL02538:Ano5	APN	7	51,233,523 (GRCm39)	missense	probably damaging	1.00
IGL03027:Ano5	APN	7	51,216,025 (GRCm39)	missense	probably damaging	0.99
IGL03133:Ano5	APN	7	51,226,260 (GRCm39)	nonsense	probably null
IGL03167:Ano5	APN	7	51,235,259 (GRCm39)	missense	probably damaging	0.98
IGL03233:Ano5	APN	7	51,220,116 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Ano5	UTSW	7	51,194,599 (GRCm39)	missense	probably damaging	1.00
R0233:Ano5	UTSW	7	51,185,218 (GRCm39)	missense	possibly damaging	0.94
R0233:Ano5	UTSW	7	51,185,218 (GRCm39)	missense	possibly damaging	0.94
R0675:Ano5	UTSW	7	51,224,558 (GRCm39)	missense	probably damaging	1.00
R0723:Ano5	UTSW	7	51,237,506 (GRCm39)	missense	probably benign	0.20
R0764:Ano5	UTSW	7	51,187,590 (GRCm39)	splice site	probably benign
R1159:Ano5	UTSW	7	51,229,222 (GRCm39)	splice site	probably benign
R1218:Ano5	UTSW	7	51,220,169 (GRCm39)	splice site	probably null
R1288:Ano5	UTSW	7	51,196,620 (GRCm39)	missense	probably damaging	1.00
R1329:Ano5	UTSW	7	51,196,533 (GRCm39)	missense	probably benign
R1484:Ano5	UTSW	7	51,216,068 (GRCm39)	missense	probably damaging	1.00
R1496:Ano5	UTSW	7	51,233,523 (GRCm39)	missense	probably damaging	1.00
R1512:Ano5	UTSW	7	51,229,316 (GRCm39)	missense	probably benign	0.00
R1691:Ano5	UTSW	7	51,240,327 (GRCm39)	missense	probably damaging	1.00
R1859:Ano5	UTSW	7	51,196,581 (GRCm39)	missense	probably damaging	1.00
R1991:Ano5	UTSW	7	51,187,561 (GRCm39)	missense	possibly damaging	0.59
R2066:Ano5	UTSW	7	51,235,134 (GRCm39)	missense	probably damaging	1.00
R2088:Ano5	UTSW	7	51,237,454 (GRCm39)	missense	possibly damaging	0.50
R2103:Ano5	UTSW	7	51,187,561 (GRCm39)	missense	possibly damaging	0.59
R2248:Ano5	UTSW	7	51,243,537 (GRCm39)	missense	probably benign	0.00
R3692:Ano5	UTSW	7	51,240,327 (GRCm39)	missense	probably damaging	1.00
R3805:Ano5	UTSW	7	51,226,398 (GRCm39)	missense	probably benign	0.22
R3883:Ano5	UTSW	7	51,216,052 (GRCm39)	missense	probably damaging	1.00
R3978:Ano5	UTSW	7	51,237,554 (GRCm39)	missense	probably benign
R4035:Ano5	UTSW	7	51,216,233 (GRCm39)	splice site	probably benign
R4239:Ano5	UTSW	7	51,237,414 (GRCm39)	missense	probably damaging	0.99
R4466:Ano5	UTSW	7	51,220,023 (GRCm39)	missense	probably damaging	1.00
R4644:Ano5	UTSW	7	51,237,433 (GRCm39)	nonsense	probably null
R5021:Ano5	UTSW	7	51,205,933 (GRCm39)	missense	probably benign
R5028:Ano5	UTSW	7	51,187,458 (GRCm39)	splice site	probably null
R5609:Ano5	UTSW	7	51,243,385 (GRCm39)	missense	probably damaging	1.00
R5659:Ano5	UTSW	7	51,233,562 (GRCm39)	missense	possibly damaging	0.94
R5660:Ano5	UTSW	7	51,233,562 (GRCm39)	missense	possibly damaging	0.94
R5680:Ano5	UTSW	7	51,233,562 (GRCm39)	missense	possibly damaging	0.94
R5786:Ano5	UTSW	7	51,216,066 (GRCm39)	missense	possibly damaging	0.88
R5787:Ano5	UTSW	7	51,216,066 (GRCm39)	missense	possibly damaging	0.88
R5788:Ano5	UTSW	7	51,216,066 (GRCm39)	missense	possibly damaging	0.88
R5856:Ano5	UTSW	7	51,235,074 (GRCm39)	missense	probably benign	0.01
R5930:Ano5	UTSW	7	51,235,079 (GRCm39)	missense	probably damaging	0.99
R5984:Ano5	UTSW	7	51,243,412 (GRCm39)	missense	probably damaging	1.00
R6015:Ano5	UTSW	7	51,224,525 (GRCm39)	missense	probably benign	0.00
R6030:Ano5	UTSW	7	51,224,573 (GRCm39)	missense	probably damaging	1.00
R6030:Ano5	UTSW	7	51,224,573 (GRCm39)	missense	probably damaging	1.00
R6247:Ano5	UTSW	7	51,215,879 (GRCm39)	splice site	probably null
R7552:Ano5	UTSW	7	51,196,528 (GRCm39)	missense	probably benign	0.31
R7559:Ano5	UTSW	7	51,224,636 (GRCm39)	missense	probably damaging	1.00
R7712:Ano5	UTSW	7	51,240,403 (GRCm39)	missense	probably damaging	1.00
R7712:Ano5	UTSW	7	51,222,805 (GRCm39)	missense	probably benign	0.00
R7805:Ano5	UTSW	7	51,187,548 (GRCm39)	missense	probably damaging	0.97
R7808:Ano5	UTSW	7	51,237,543 (GRCm39)	missense	possibly damaging	0.53
R7840:Ano5	UTSW	7	51,237,480 (GRCm39)	missense	possibly damaging	0.88
R7886:Ano5	UTSW	7	51,220,141 (GRCm39)	missense	probably benign	0.12
R7975:Ano5	UTSW	7	51,216,286 (GRCm39)	missense	probably null	0.98
R8006:Ano5	UTSW	7	51,243,518 (GRCm39)	missense	probably benign	0.05
R8060:Ano5	UTSW	7	51,237,531 (GRCm39)	missense	probably benign	0.01
R8084:Ano5	UTSW	7	51,229,287 (GRCm39)	missense	probably benign	0.01
R8351:Ano5	UTSW	7	51,203,626 (GRCm39)	missense	probably benign	0.10
R8504:Ano5	UTSW	7	51,222,776 (GRCm39)	missense	probably benign	0.01
R8699:Ano5	UTSW	7	51,243,519 (GRCm39)	missense	probably benign
R8710:Ano5	UTSW	7	51,243,419 (GRCm39)	missense	probably damaging	1.00
R8752:Ano5	UTSW	7	51,196,617 (GRCm39)	missense	probably damaging	1.00
R8771:Ano5	UTSW	7	51,220,047 (GRCm39)	nonsense	probably null
R8771:Ano5	UTSW	7	51,216,095 (GRCm39)	missense	probably damaging	0.99
R8815:Ano5	UTSW	7	51,194,548 (GRCm39)	nonsense	probably null
R9057:Ano5	UTSW	7	51,203,654 (GRCm39)	missense	probably benign	0.05
R9118:Ano5	UTSW	7	51,220,122 (GRCm39)	missense	probably damaging	0.99
R9217:Ano5	UTSW	7	51,243,415 (GRCm39)	missense	probably damaging	1.00
R9462:Ano5	UTSW	7	51,235,200 (GRCm39)	missense	probably benign	0.19
R9699:Ano5	UTSW	7	51,229,309 (GRCm39)	missense	probably damaging	1.00
X0062:Ano5	UTSW	7	51,243,399 (GRCm39)	nonsense	probably null
X0065:Ano5	UTSW	7	51,226,376 (GRCm39)	nonsense	probably null
Z1176:Ano5	UTSW	7	51,224,451 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACAGCTGTGGGATGAACAC -3'
(R):5'- ACAACTTGACAATATCTGAGGCC -3'

Sequencing Primer
(F):5'- TGTGGGATGAACACAGGACC -3'
(R):5'- TGAGGCCACACATCTAACCTGG -3'

Posted On

2015-03-18