Mutagenetix > Incidental Mutation

Incidental Mutation 'R8771:Ano5'

664411

Institutional Source

Beutler Lab

Gene Symbol

Ano5

Ensembl Gene

ENSMUSG00000055489

Gene Name

anoctamin 5

Synonyms

Tmem16e, Gdd1

MMRRC Submission

068602-MU

Accession Numbers

Essential gene?

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

Stock #

R8771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51160777-51248457 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 51220047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 396 (Q396*)

Ref Sequence

ENSEMBL: ENSMUSP00000046884 (fasta)

Gene Model

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

AlphaFold

Q75UR0

Predicted Effect

probably null
Transcript: ENSMUST00000043944
AA Change: Q396*

SMART Domains

Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: Q396*

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: Q363*

Predicted Effect

probably null
Transcript: ENSMUST00000207717
AA Change: Q382*

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,880,320 (GRCm39)	I451T	probably damaging	Het
Acin1	T	C	14: 54,880,496 (GRCm39)	K1236E	unknown	Het
AI661453	T	C	17: 47,777,683 (GRCm39)	S470P	unknown	Het
Baz1b	T	A	5: 135,273,151 (GRCm39)	M1425K	probably benign	Het
Cdh22	A	T	2: 164,988,689 (GRCm39)	V222E	possibly damaging	Het
Celsr1	A	T	15: 85,788,175 (GRCm39)	S2692R	probably benign	Het
Ces5a	A	G	8: 94,255,249 (GRCm39)	I144T	possibly damaging	Het
D5Ertd579e	T	A	5: 36,761,940 (GRCm39)	N1309I	probably damaging	Het
Dnmt3b	C	T	2: 153,504,734 (GRCm39)	T112M	possibly damaging	Het
Eif4g3	C	T	4: 137,907,848 (GRCm39)	Q1283*	probably null	Het
Etnppl	T	A	3: 130,414,024 (GRCm39)	M41K	probably damaging	Het
Hhatl	G	A	9: 121,617,776 (GRCm39)	T271I	possibly damaging	Het
Igkv5-37	A	G	6: 69,940,423 (GRCm39)	S74P	probably damaging	Het
Krt87	A	G	15: 101,385,779 (GRCm39)	V272A	probably benign	Het
Lgr6	A	T	1: 134,933,429 (GRCm39)	L262*	probably null	Het
Lrriq3	G	A	3: 154,899,270 (GRCm39)	V590I	probably damaging	Het
Mfsd13a	T	C	19: 46,360,668 (GRCm39)	V382A	probably damaging	Het
Minar2	T	C	18: 59,200,052 (GRCm39)		probably benign	Het
Mrc2	A	G	11: 105,240,596 (GRCm39)	T1429A	probably benign	Het
Mroh5	A	T	15: 73,693,203 (GRCm39)	M79K	possibly damaging	Het
Myo1c	A	G	11: 75,556,709 (GRCm39)	K553R	probably benign	Het
Nbeal1	A	G	1: 60,300,743 (GRCm39)	T1488A	probably benign	Het
Or4c12	T	C	2: 89,773,565 (GRCm39)	K298R	probably benign	Het
Or5aq6	T	C	2: 86,923,294 (GRCm39)	Y149C	probably benign	Het
Or5m10b	T	G	2: 85,699,712 (GRCm39)	Y259D	probably damaging	Het
Or5p76	T	A	7: 108,122,632 (GRCm39)	N175I	possibly damaging	Het
Prl7a1	A	T	13: 27,819,811 (GRCm39)	W148R	probably damaging	Het
Ptpn2	G	T	18: 67,805,659 (GRCm39)	T402K	probably benign	Het
Ptprf	A	G	4: 118,068,987 (GRCm39)	M1665T	possibly damaging	Het
Raet1e	G	T	10: 22,057,041 (GRCm39)	V122F	probably damaging	Het
Serpina3m	A	G	12: 104,357,841 (GRCm39)	E255G	probably damaging	Het
Sorcs2	T	C	5: 36,188,624 (GRCm39)	Y828C	probably damaging	Het
Sprr1a	T	A	3: 92,391,989 (GRCm39)	H4L	probably benign	Het
Sptssa	A	G	12: 54,703,211 (GRCm39)	Y20H	probably damaging	Het
Synpo2l	A	G	14: 20,710,491 (GRCm39)	S939P	probably damaging	Het
Tdrd7	T	C	4: 46,010,800 (GRCm39)	V568A	probably damaging	Het
Tmem132c	C	T	5: 127,437,192 (GRCm39)	P227L	probably benign	Het
Tmtc3	A	G	10: 100,286,180 (GRCm39)	S548P	possibly damaging	Het
Trip12	A	T	1: 84,721,018 (GRCm39)		probably benign	Het
Ttll6	A	G	11: 96,042,762 (GRCm39)	Y436C	probably damaging	Het
Unc80	A	G	1: 66,685,554 (GRCm39)	D2226G	possibly damaging	Het
Vmn1r142	T	C	7: 21,862,737 (GRCm39)	M242V	probably benign	Het
Vmn2r12	T	G	5: 109,239,952 (GRCm39)	T204P	possibly damaging	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r61	C	A	7: 41,916,194 (GRCm39)	A269D	probably damaging	Het
Zfp148	A	G	16: 33,317,656 (GRCm39)	D776G	possibly damaging	Het
Zfp775	A	T	6: 48,596,906 (GRCm39)	Q260L	probably benign	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
R3723:Ano5	UTSW	7	51,226,276 (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	51,216,095 (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'- ACATGTGAACTGCTTTGCAAAC -3'
(R):5'- TCTAGAGCATCCTAGCAGACGG -3'

Sequencing Primer
(F):5'- CGTGTGTGCACATAACATCG -3'
(R):5'- AGACGGTCTGCTAGGGC -3'

Posted On

2021-03-08