Mutagenetix > Incidental Mutation

Incidental Mutation 'R5856:Ano5'

454908

Institutional Source

Beutler Lab

Gene Symbol

Ano5

Ensembl Gene

ENSMUSG00000055489

Gene Name

anoctamin 5

Synonyms

Tmem16e, Gdd1

MMRRC Submission

043230-MU

Accession Numbers

Essential gene?

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

Stock #

R5856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51160777-51248457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51235074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 669 (I669T)

Ref Sequence

ENSEMBL: ENSMUSP00000046884 (fasta)

Gene Model

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

AlphaFold

Q75UR0

Predicted Effect

probably benign
Transcript: ENSMUST00000043944
AA Change: I669T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000046884
Gene: ENSMUSG00000055489
AA Change: I669T

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: I636T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207717
AA Change: I619T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.2%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Adgrf5	A	G	17: 43,757,011 (GRCm39)	T497A	probably benign	Het
Arhgap11a	A	T	2: 113,664,116 (GRCm39)	N722K	possibly damaging	Het
Atm	A	T	9: 53,407,255 (GRCm39)	I1161K	possibly damaging	Het
Atp13a4	T	C	16: 29,252,805 (GRCm39)	T714A	possibly damaging	Het
BC051665	T	A	13: 60,932,314 (GRCm39)	M92L	probably benign	Het
Car3	G	A	3: 14,936,701 (GRCm39)	V255M	probably damaging	Het
Cnot11	C	A	1: 39,576,534 (GRCm39)	F179L	probably benign	Het
Dctn1	A	G	6: 83,174,847 (GRCm39)	Y1013C	probably damaging	Het
Gm19965	A	G	1: 116,749,579 (GRCm39)	D420G	probably benign	Het
Gm5444	A	G	13: 4,821,683 (GRCm39)		noncoding transcript	Het
Hydin	A	T	8: 111,268,474 (GRCm39)	D2946V	probably damaging	Het
Hyou1	C	T	9: 44,292,641 (GRCm39)	R119C	probably damaging	Het
Ighm	A	T	12: 113,385,222 (GRCm39)	L246Q	unknown	Het
Itpr3	A	G	17: 27,325,379 (GRCm39)	E1324G	probably damaging	Het
Loxl4	G	T	19: 42,583,805 (GRCm39)	Q749K	possibly damaging	Het
Muc2	C	A	7: 141,299,381 (GRCm39)		probably benign	Het
Myh11	T	C	16: 14,023,840 (GRCm39)	T1505A	probably benign	Het
Nsmce2	A	G	15: 59,250,792 (GRCm39)	E21G	probably damaging	Het
Or13c3	T	A	4: 52,856,516 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,254 (GRCm39)	I6F	probably benign	Het
Plaa	A	G	4: 94,471,724 (GRCm39)	I375T	probably benign	Het
Pou2f1	C	T	1: 165,742,699 (GRCm39)	A65T	probably benign	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rxfp1	T	A	3: 79,570,620 (GRCm39)	N271Y	possibly damaging	Het
Sema5b	T	G	16: 35,466,756 (GRCm39)	Y219*	probably null	Het
Slc35f3	G	T	8: 127,047,819 (GRCm39)	R53L	probably benign	Het
Slc44a5	T	C	3: 153,964,029 (GRCm39)	V465A	possibly damaging	Het
Slc9a5	A	G	8: 106,083,797 (GRCm39)	I446V	possibly damaging	Het
Slf1	A	T	13: 77,254,206 (GRCm39)	D204E	possibly damaging	Het
Sox5	T	A	6: 144,155,088 (GRCm39)	T3S	probably damaging	Het
Srr	G	A	11: 74,803,838 (GRCm39)	R40C	possibly damaging	Het
Tas2r115	T	A	6: 132,714,501 (GRCm39)	H150L	possibly damaging	Het
Tet2	A	G	3: 133,192,401 (GRCm39)	S678P	probably benign	Het
Tmem11	T	C	11: 60,755,684 (GRCm39)	K183E	probably damaging	Het
Upf1	T	C	8: 70,787,412 (GRCm39)		probably null	Het
Xpo6	A	T	7: 125,748,674 (GRCm39)		probably benign	Het
Zfp638	C	T	6: 83,954,047 (GRCm39)	S1384L	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	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
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'- TCTGAGTCTAACACCTTGAAACAC -3'
(R):5'- TTGCAACAGAAACGATGGCC -3'

Sequencing Primer
(F):5'- TTGAAACACACACTGCCTCTC -3'
(R):5'- CATTCCAAAAAGAATGTCTTGCCAG -3'

Posted On

2017-02-10