Mutagenetix > Incidental Mutation

Incidental Mutation 'R6015:Ano5'

478560

Institutional Source

Beutler Lab

Gene Symbol

Ano5

Ensembl Gene

ENSMUSG00000055489

Gene Name

anoctamin 5

Synonyms

Tmem16e, Gdd1

MMRRC Submission

043254-MU

Accession Numbers

Essential gene?

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

Stock #

R6015 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51160777-51248457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 51224525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 480 (S480R)

Ref Sequence

ENSEMBL: ENSMUSP00000146783 (fasta)

Gene Model

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

AlphaFold

Q75UR0

Predicted Effect

probably benign
Transcript: ENSMUST00000043944
AA Change: S494R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: S494R

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 benign
Transcript: ENSMUST00000207044
AA Change: S461R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000207717
AA Change: S480R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqr	A	G	2: 114,005,646 (GRCm39)	M1T	probably null	Het
Arhgef28	A	G	13: 98,211,530 (GRCm39)	V151A	possibly damaging	Het
Atp6v1b2	T	A	8: 69,555,148 (GRCm39)	I170N	probably damaging	Het
Atxn2	T	A	5: 121,949,055 (GRCm39)	V817D	probably damaging	Het
Cdh23	A	C	10: 60,143,761 (GRCm39)	I2950S	probably damaging	Het
Ces1h	A	G	8: 94,083,691 (GRCm39)	L417P	unknown	Het
Cimap3	T	C	3: 105,906,937 (GRCm39)	D154G	possibly damaging	Het
Csf1r	A	G	18: 61,242,784 (GRCm39)	E49G	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fat3	A	G	9: 16,287,346 (GRCm39)	S726P	possibly damaging	Het
Grik2	A	T	10: 49,399,959 (GRCm39)		probably null	Het
Il9r	A	G	11: 32,142,674 (GRCm39)	V287A	probably benign	Het
Inpp5b	T	C	4: 124,692,143 (GRCm39)	C909R	possibly damaging	Het
Kat7	G	A	11: 95,174,860 (GRCm39)	H384Y	probably damaging	Het
Lama5	A	G	2: 179,827,185 (GRCm39)	S2272P	probably benign	Het
Megf10	A	G	18: 57,386,100 (GRCm39)	H371R	probably benign	Het
Moxd2	A	T	6: 40,860,688 (GRCm39)	Y310N	probably damaging	Het
Ntrk2	A	T	13: 59,208,209 (GRCm39)	E685V	probably damaging	Het
Ogfr	G	T	2: 180,236,467 (GRCm39)	G351W	probably damaging	Het
Or52ac1	G	T	7: 104,245,915 (GRCm39)	P158T	probably damaging	Het
Parp3	C	T	9: 106,351,481 (GRCm39)	V207M	possibly damaging	Het
Pfkfb3	T	C	2: 11,486,146 (GRCm39)		probably null	Het
Pigr	T	C	1: 130,774,998 (GRCm39)	V475A	probably benign	Het
Pik3ap1	T	A	19: 41,316,640 (GRCm39)	Y250F	probably benign	Het
Ppp1r3c	A	T	19: 36,711,206 (GRCm39)	I188N	probably damaging	Het
Prmt7	T	G	8: 106,961,640 (GRCm39)		probably benign	Het
Psapl1	T	C	5: 36,361,594 (GRCm39)	V62A	probably benign	Het
Relch	T	C	1: 105,619,683 (GRCm39)	L280S	probably damaging	Het
Rpp14	G	A	14: 8,090,462 (GRCm38)	V129I	probably benign	Het
Sema4f	A	G	6: 82,916,553 (GRCm39)		probably benign	Het
Serpinb13	C	A	1: 106,928,337 (GRCm39)	A319E	probably benign	Het
Sez6l2	A	T	7: 126,552,625 (GRCm39)	S134C	probably damaging	Het
Slc4a10	T	A	2: 62,059,046 (GRCm39)	H184Q	probably benign	Het
Slc9a9	G	T	9: 94,821,602 (GRCm39)	A330S	probably benign	Het
Sord	T	C	2: 122,087,424 (GRCm39)	V176A	probably damaging	Het
Ssbp2	G	T	13: 91,817,862 (GRCm39)		probably null	Het
Stab2	G	T	10: 86,773,906 (GRCm39)	N808K	probably damaging	Het
Syne1	A	G	10: 5,296,819 (GRCm39)		probably null	Het
Tpcn2	A	G	7: 144,820,588 (GRCm39)	V341A	probably damaging	Het
Unc13b	C	A	4: 43,177,995 (GRCm39)	S2941*	probably null	Het
Utrn	T	A	10: 12,354,168 (GRCm39)	H2806L	possibly damaging	Het
Vmn1r40	C	A	6: 89,691,588 (GRCm39)	A135D	probably damaging	Het
Vmn1r68	C	T	7: 10,261,616 (GRCm39)	V161M	probably benign	Het
Wiz	T	A	17: 32,606,574 (GRCm39)	I54F	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
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'- TGCTGTGGCCTATCTATTGC -3'
(R):5'- GATTCGATGTTGGCTGAAACC -3'

Sequencing Primer
(F):5'- CTCTATGGTAAGACAAATGATGGTGC -3'
(R):5'- TTGGCTGAAACCCATGGTC -3'

Posted On

2017-06-26