Mutagenetix > Incidental Mutation

Incidental Mutation 'R9118:Ano5'

692641

Institutional Source

Beutler Lab

Gene Symbol

Ano5

Ensembl Gene

ENSMUSG00000055489

Gene Name

anoctamin 5

Synonyms

Tmem16e, Gdd1

MMRRC Submission

068921-MU

Accession Numbers

Essential gene?

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

Stock #

R9118 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51160777-51248457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51220122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 421 (F421I)

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: F421I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: F421I

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: F388I

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207717
AA Change: F407I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.2030

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (31/32)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	A	T	9: 118,985,957 (GRCm39)	S36T	probably benign	Het
Aifm2	C	T	10: 61,561,681 (GRCm39)	T9I	probably benign	Het
Cacna1a	G	A	8: 85,262,715 (GRCm39)	V372M	probably damaging	Het
Col6a5	A	T	9: 105,755,853 (GRCm39)		probably benign	Het
Colgalt2	A	G	1: 152,378,906 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,879,925 (GRCm39)	D421G	possibly damaging	Het
Dgat1	A	T	15: 76,386,718 (GRCm39)	W440R	probably damaging	Het
Dnah5	TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC	TGTC	15: 28,401,994 (GRCm39)		probably null	Het
Dnai7	A	G	6: 145,120,900 (GRCm39)	Y691H	probably damaging	Het
Dnai7	A	G	6: 145,120,971 (GRCm39)	L667P	probably damaging	Het
Eif4h	C	A	5: 134,656,481 (GRCm39)	V70L	probably benign	Het
Gabrd	C	A	4: 155,470,475 (GRCm39)	V326L	possibly damaging	Het
Krt1c	C	T	15: 101,722,976 (GRCm39)	E341K	probably damaging	Het
Lrp4	C	T	2: 91,308,927 (GRCm39)	A538V	possibly damaging	Het
Mfap3l	G	A	8: 61,109,716 (GRCm39)	V31M	probably damaging	Het
Mroh2b	T	C	15: 4,991,573 (GRCm39)	I1557T	possibly damaging	Het
Or2y16	A	T	11: 49,335,409 (GRCm39)	I244F	probably benign	Het
Or5an11	T	C	19: 12,246,263 (GRCm39)	V223A	probably benign	Het
Pcyt2	G	A	11: 120,503,899 (GRCm39)	P183L		Het
Rapsn	A	G	2: 90,875,378 (GRCm39)	H387R	probably damaging	Het
Scaf11	G	A	15: 96,319,886 (GRCm39)	A259V	probably benign	Het
Septin9	A	G	11: 117,157,398 (GRCm39)	D11G	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc7a2	T	A	8: 41,351,994 (GRCm39)	I19N	possibly damaging	Het
Synpr	T	C	14: 13,608,673 (GRCm38)	V171A	probably damaging	Het
Tmed7	T	C	18: 46,726,338 (GRCm39)	N139S	probably benign	Het
Tnks1bp1	G	T	2: 84,893,720 (GRCm39)	G1216W	probably damaging	Het
Ush2a	T	A	1: 188,386,839 (GRCm39)	V2338E	probably damaging	Het
Vmn1r152	A	T	7: 22,222,992 (GRCm39)	I201F		Het
Vmn2r106	C	A	17: 20,505,667 (GRCm39)	W9L	probably benign	Het
Vmn2r9	A	G	5: 108,990,937 (GRCm39)	V808A	probably damaging	Het
Zfp646	A	G	7: 127,480,810 (GRCm39)	T996A		Het
Zng1	T	C	19: 24,920,048 (GRCm39)	R190G	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
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	51,220,047 (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
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'- AACTGACAACATGTGAACTGC -3'
(R):5'- AAATGCAGTGTTGGGTAGTAGC -3'

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

Posted On

2021-12-30