Mutagenetix > Incidental Mutation

Incidental Mutation 'R5660:Ano5'

444034

Institutional Source

Beutler Lab

Gene Symbol

Ano5

Ensembl Gene

ENSMUSG00000055489

Gene Name

anoctamin 5

Synonyms

Tmem16e, Gdd1

MMRRC Submission

043173-MU

Accession Numbers

Essential gene?

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

Stock #

R5660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51160777-51248457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51233562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 658 (R658H)

Ref Sequence

ENSEMBL: ENSMUSP00000046884 (fasta)

Gene Model

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

AlphaFold

Q75UR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043944
AA Change: R658H

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: R658H

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

possibly damaging
Transcript: ENSMUST00000207044
AA Change: R625H

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207717
AA Change: R608H

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,757,828 (GRCm39)	N1307S	probably benign	Het
Abcf1	A	T	17: 36,274,539 (GRCm39)	D41E	possibly damaging	Het
Adamts13	T	C	2: 26,886,761 (GRCm39)	V966A	probably benign	Het
Adamts2	A	T	11: 50,667,472 (GRCm39)	D470V	probably damaging	Het
Adar	T	C	3: 89,642,901 (GRCm39)	F261L	probably damaging	Het
Akap3	C	T	6: 126,842,254 (GRCm39)	A291V	probably damaging	Het
Akr1c6	G	A	13: 4,499,053 (GRCm39)	V214I	probably benign	Het
Arhgap11a	T	A	2: 113,672,255 (GRCm39)	I238F	possibly damaging	Het
Atg2b	A	T	12: 105,615,383 (GRCm39)	Y1024*	probably null	Het
Cad	T	A	5: 31,234,191 (GRCm39)	D1956E	probably damaging	Het
Cbs	A	T	17: 31,843,220 (GRCm39)	I237N	probably damaging	Het
Ccdc81	T	C	7: 89,542,337 (GRCm39)	T180A	probably benign	Het
Cftr	T	A	6: 18,313,686 (GRCm39)	N1303K	probably benign	Het
Col6a4	A	G	9: 105,873,315 (GRCm39)	S2227P	probably benign	Het
Crebbp	A	T	16: 3,972,722 (GRCm39)	M324K	possibly damaging	Het
Dst	A	G	1: 34,321,574 (GRCm39)	K4363R	probably damaging	Het
Eif2b4	A	T	5: 31,348,500 (GRCm39)	Y238N	probably benign	Het
Fam83c	G	A	2: 155,671,509 (GRCm39)	A642V	probably benign	Het
Fat2	T	A	11: 55,175,002 (GRCm39)	T1904S	probably benign	Het
Flt3	T	C	5: 147,306,291 (GRCm39)	N279S	possibly damaging	Het
Galnt4	A	G	10: 98,945,397 (GRCm39)	N374S	probably benign	Het
Gm14401	T	A	2: 176,778,224 (GRCm39)	H103Q	probably damaging	Het
Gm5422	A	T	10: 31,126,048 (GRCm39)		noncoding transcript	Het
Helb	G	A	10: 119,946,984 (GRCm39)	Q110*	probably null	Het
Ido1	T	C	8: 25,081,558 (GRCm39)	D41G	probably damaging	Het
Igfn1	A	G	1: 135,898,152 (GRCm39)	S805P	probably benign	Het
Matr3	C	A	18: 35,705,147 (GRCm39)	A24E	probably damaging	Het
Mmp23	C	T	4: 155,735,710 (GRCm39)	C287Y	probably damaging	Het
Mrnip	A	G	11: 50,087,918 (GRCm39)	R147G	probably null	Het
Msh6	A	G	17: 88,292,147 (GRCm39)	K301E	possibly damaging	Het
Or12d13	A	G	17: 37,647,535 (GRCm39)	L196P	probably damaging	Het
Or8g4	G	A	9: 39,662,063 (GRCm39)	C127Y	probably damaging	Het
Ptar1	T	A	19: 23,671,776 (GRCm39)	C60S	probably benign	Het
Rora	A	G	9: 68,561,203 (GRCm39)	S11G	probably benign	Het
Rps6ka5	G	T	12: 100,585,839 (GRCm39)	H151Q	possibly damaging	Het
Sgsh	A	G	11: 119,241,807 (GRCm39)	S100P	probably damaging	Het
Simc1	A	G	13: 54,694,902 (GRCm39)	T1229A	probably benign	Het
Slc26a11	T	C	11: 119,248,804 (GRCm39)	Y62H	probably damaging	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Smg1	C	T	7: 117,742,570 (GRCm39)	V3215I	probably benign	Het
Smyd2	G	A	1: 189,617,579 (GRCm39)	P285L	possibly damaging	Het
Themis2	T	C	4: 132,523,567 (GRCm39)		probably null	Het
Tln1	A	G	4: 43,547,732 (GRCm39)	V743A	probably damaging	Het
Tpo	T	A	12: 30,150,495 (GRCm39)	N462Y	possibly damaging	Het
Wnt2	T	A	6: 18,028,145 (GRCm39)	M30L	probably benign	Het
Zfyve9	T	C	4: 108,576,365 (GRCm39)	I239V	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
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'- AGTCTGTCTTTCTGATAGTTTCCAGAC -3'
(R):5'- ACATATCCTTCGATCTCCCAGTAG -3'

Sequencing Primer
(F):5'- GATAGTTTCCAGACTTAACACACTGC -3'
(R):5'- ATCATTCATTCATCTGCCATCGATAG -3'

Posted On

2016-11-09