Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01285:Ano1'

72668

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01285

Quality Score

Status

Chromosome

Chromosomal Location

144142286-144305711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144198479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 345 (Y345C)

Ref Sequence

ENSEMBL: ENSMUSP00000112616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033393] [ENSMUST00000118556] [ENSMUST00000121758]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033393
AA Change: Y288C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: Y288C

Domain	Start	End	E-Value	Type
low complexity region	129	147	N/A	INTRINSIC
Pfam:Anoctamin	320	898	1.3e-149	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118556
AA Change: Y346C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: Y346C

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	112	375	5.5e-83	PFAM
Pfam:Anoctamin	378	955	6.7e-140	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121758
AA Change: Y345C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: Y345C

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	54	317	7.1e-83	PFAM
Pfam:Anoctamin	320	901	2.2e-139	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: Y175C

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	2	205	4.4e-64	PFAM
Pfam:Anoctamin	208	335	3e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208985

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knockout allele exhibit postnatal death associated with aerophagia, slow postnatal weight gain, cyanosis, and abnormal tracheal morphology. Mice homozygous for a different knock-out allele exhibit proteinuria and intracellular endosomal vesicles in PTE cells. [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
Adam5	T	C	8: 25,271,610 (GRCm39)	N599S	probably benign	Het
Adam6a	A	T	12: 113,509,893 (GRCm39)	*755Y	probably null	Het
Adgrb3	G	T	1: 25,132,868 (GRCm39)	T1166K	probably benign	Het
Asap2	C	T	12: 21,279,264 (GRCm39)	A382V	probably damaging	Het
Asb18	A	G	1: 89,923,963 (GRCm39)	V100A	probably benign	Het
Bdnf	G	A	2: 109,553,931 (GRCm39)	A102T	probably benign	Het
Ccser2	G	A	14: 36,660,626 (GRCm39)	T509M	probably damaging	Het
Cfap47	A	G	X: 78,532,764 (GRCm39)	I767T	possibly damaging	Het
Des	G	A	1: 75,339,227 (GRCm39)	A251T	probably benign	Het
Dmd	C	T	X: 84,153,590 (GRCm39)	Q3224*	probably null	Het
Endog	G	T	2: 30,061,975 (GRCm39)		probably null	Het
Ggt7	A	G	2: 155,342,691 (GRCm39)	V269A	probably damaging	Het
Gucy2c	A	G	6: 136,686,739 (GRCm39)	F808S	probably damaging	Het
Hira	A	G	16: 18,730,930 (GRCm39)	T210A	probably benign	Het
Ifitm5	C	A	7: 140,530,076 (GRCm39)	R16L	probably benign	Het
Igdcc4	T	C	9: 65,031,273 (GRCm39)	C404R	probably damaging	Het
Ints7	G	A	1: 191,347,890 (GRCm39)	R754H	probably benign	Het
Irf9	A	G	14: 55,845,058 (GRCm39)	E258G	probably damaging	Het
Megf11	T	C	9: 64,567,728 (GRCm39)	C406R	probably damaging	Het
Olfml1	A	G	7: 107,189,364 (GRCm39)	N143S	possibly damaging	Het
Or4m1	A	G	14: 50,557,713 (GRCm39)	F193S	possibly damaging	Het
Or6c66b	T	A	10: 129,376,711 (GRCm39)	F102I	probably benign	Het
Or7g30	A	G	9: 19,352,266 (GRCm39)	D19G	probably benign	Het
Otof	G	T	5: 30,562,527 (GRCm39)	Q254K	probably damaging	Het
Pate7	A	T	9: 35,688,044 (GRCm39)	N65K	possibly damaging	Het
Plcd3	A	G	11: 102,968,696 (GRCm39)	F332L	probably benign	Het
Plxnc1	T	C	10: 94,635,230 (GRCm39)	D1332G	probably damaging	Het
Rnasel	A	T	1: 153,634,130 (GRCm39)	D521V	probably benign	Het
Sema5a	T	A	15: 32,575,143 (GRCm39)	V417D	possibly damaging	Het
Senp6	G	A	9: 80,044,000 (GRCm39)	R877Q	probably benign	Het
Shroom2	A	T	X: 151,442,353 (GRCm39)	D937E	probably damaging	Het
Slc35a3	A	G	3: 116,488,262 (GRCm39)	S142P	probably damaging	Het
Srpx	A	T	X: 9,905,298 (GRCm39)	V398E	probably damaging	Het
Stk10	A	T	11: 32,560,653 (GRCm39)	K669N	possibly damaging	Het
Sumf2	A	G	5: 129,878,811 (GRCm39)	D49G	probably damaging	Het
Syde1	T	A	10: 78,424,721 (GRCm39)	E370D	probably damaging	Het
Tas2r115	G	T	6: 132,714,641 (GRCm39)	S103R	probably damaging	Het
Top2a	G	A	11: 98,896,985 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,550,842 (GRCm39)	T23190S	probably damaging	Het
Ttyh3	C	A	5: 140,615,167 (GRCm39)	C407F	probably damaging	Het
Vmn2r27	G	T	6: 124,169,370 (GRCm39)	H587N	possibly damaging	Het
Vmn2r74	A	G	7: 85,606,692 (GRCm39)	I218T	possibly damaging	Het
Vsig10	A	G	5: 117,462,954 (GRCm39)	N60S	probably benign	Het
Zc3h7a	A	G	16: 10,956,979 (GRCm39)	S877P	probably damaging	Het
Zfp979	G	T	4: 147,699,853 (GRCm39)	T29N	probably damaging	Het
Znfx1	G	A	2: 166,880,615 (GRCm39)	R390C	possibly damaging	Het

Other mutations in Ano1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Ano1	APN	7	144,192,250 (GRCm39)	missense	probably damaging	1.00
IGL00754:Ano1	APN	7	144,150,968 (GRCm39)	missense	probably damaging	0.98
IGL00780:Ano1	APN	7	144,209,367 (GRCm39)	missense	probably damaging	0.99
IGL00918:Ano1	APN	7	144,198,489 (GRCm39)	splice site	probably benign
IGL01112:Ano1	APN	7	144,190,882 (GRCm39)	missense	possibly damaging	0.52
IGL01285:Ano1	APN	7	144,149,275 (GRCm39)	missense	probably damaging	0.98
IGL01308:Ano1	APN	7	144,149,235 (GRCm39)	missense	probably damaging	0.99
IGL01407:Ano1	APN	7	144,190,848 (GRCm39)	missense	probably benign	0.22
IGL01672:Ano1	APN	7	144,209,412 (GRCm39)	missense	probably damaging	0.96
IGL01920:Ano1	APN	7	144,165,191 (GRCm39)	splice site	probably benign
IGL01926:Ano1	APN	7	144,164,612 (GRCm39)	missense	possibly damaging	0.94
IGL02164:Ano1	APN	7	144,190,918 (GRCm39)	missense	possibly damaging	0.91
IGL02190:Ano1	APN	7	144,172,620 (GRCm39)	missense	probably benign	0.41
IGL02214:Ano1	APN	7	144,209,445 (GRCm39)	missense	possibly damaging	0.80
IGL02299:Ano1	APN	7	144,143,812 (GRCm39)	missense	possibly damaging	0.80
IGL02567:Ano1	APN	7	144,165,362 (GRCm39)	missense	probably damaging	1.00
IGL03131:Ano1	APN	7	144,157,322 (GRCm39)	missense	possibly damaging	0.90
IGL03291:Ano1	APN	7	144,175,412 (GRCm39)	missense	probably damaging	1.00
IGL03299:Ano1	APN	7	144,207,993 (GRCm39)	missense	probably damaging	1.00
IGL03394:Ano1	APN	7	144,149,176 (GRCm39)	splice site	probably null
PIT4434001:Ano1	UTSW	7	144,164,632 (GRCm39)	missense	probably benign	0.28
R0502:Ano1	UTSW	7	144,150,952 (GRCm39)	missense	probably damaging	1.00
R0595:Ano1	UTSW	7	144,143,890 (GRCm39)	missense	possibly damaging	0.94
R0732:Ano1	UTSW	7	144,173,225 (GRCm39)	critical splice acceptor site	probably null
R0970:Ano1	UTSW	7	144,149,308 (GRCm39)	missense	probably benign	0.02
R0988:Ano1	UTSW	7	144,187,390 (GRCm39)	missense	possibly damaging	0.94
R1074:Ano1	UTSW	7	144,165,417 (GRCm39)	missense	probably damaging	0.98
R1301:Ano1	UTSW	7	144,187,426 (GRCm39)	missense	possibly damaging	0.60
R1528:Ano1	UTSW	7	144,149,303 (GRCm39)	missense	probably damaging	1.00
R2018:Ano1	UTSW	7	144,207,987 (GRCm39)	missense	probably damaging	1.00
R2056:Ano1	UTSW	7	144,201,789 (GRCm39)	missense	probably damaging	1.00
R2057:Ano1	UTSW	7	144,201,789 (GRCm39)	missense	probably damaging	1.00
R2058:Ano1	UTSW	7	144,201,789 (GRCm39)	missense	probably damaging	1.00
R2059:Ano1	UTSW	7	144,165,127 (GRCm39)	missense	probably damaging	1.00
R2860:Ano1	UTSW	7	144,143,749 (GRCm39)	missense	probably damaging	1.00
R2861:Ano1	UTSW	7	144,143,749 (GRCm39)	missense	probably damaging	1.00
R3770:Ano1	UTSW	7	144,149,306 (GRCm39)	missense	probably damaging	1.00
R3970:Ano1	UTSW	7	144,161,700 (GRCm39)	missense	probably benign	0.00
R4179:Ano1	UTSW	7	144,204,242 (GRCm39)	missense	probably damaging	1.00
R4489:Ano1	UTSW	7	144,165,479 (GRCm39)	missense	probably benign	0.00
R4678:Ano1	UTSW	7	144,223,289 (GRCm39)	missense	probably benign	0.01
R4915:Ano1	UTSW	7	144,165,112 (GRCm39)	missense	possibly damaging	0.69
R5114:Ano1	UTSW	7	144,210,820 (GRCm39)	missense	possibly damaging	0.71
R5362:Ano1	UTSW	7	144,202,337 (GRCm39)	unclassified	probably benign
R5364:Ano1	UTSW	7	144,190,941 (GRCm39)	missense	probably damaging	1.00
R5366:Ano1	UTSW	7	144,207,946 (GRCm39)	missense	possibly damaging	0.85
R5387:Ano1	UTSW	7	144,202,356 (GRCm39)	missense	probably benign
R5762:Ano1	UTSW	7	144,201,774 (GRCm39)	missense	probably damaging	0.99
R5857:Ano1	UTSW	7	144,190,840 (GRCm39)	missense	probably benign	0.02
R6091:Ano1	UTSW	7	144,223,171 (GRCm39)	missense	probably benign	0.12
R6093:Ano1	UTSW	7	144,165,114 (GRCm39)	missense	possibly damaging	0.72
R6177:Ano1	UTSW	7	144,232,478 (GRCm39)	missense	possibly damaging	0.79
R6246:Ano1	UTSW	7	144,187,462 (GRCm39)	missense	possibly damaging	0.82
R6274:Ano1	UTSW	7	144,172,600 (GRCm39)	missense	probably benign	0.01
R6323:Ano1	UTSW	7	144,165,423 (GRCm39)	missense	possibly damaging	0.95
R6574:Ano1	UTSW	7	144,161,653 (GRCm39)	critical splice donor site	probably null
R6782:Ano1	UTSW	7	144,175,424 (GRCm39)	missense	probably damaging	1.00
R6880:Ano1	UTSW	7	144,198,479 (GRCm39)	missense	probably benign	0.00
R6909:Ano1	UTSW	7	144,209,468 (GRCm39)	missense	probably damaging	0.96
R7066:Ano1	UTSW	7	144,190,823 (GRCm39)	missense	probably benign	0.35
R7073:Ano1	UTSW	7	144,192,289 (GRCm39)	missense	probably damaging	0.96
R7146:Ano1	UTSW	7	144,209,393 (GRCm39)	missense	probably benign	0.00
R7420:Ano1	UTSW	7	144,209,378 (GRCm39)	missense	probably benign	0.00
R7874:Ano1	UTSW	7	144,175,461 (GRCm39)	missense	probably damaging	1.00
R8468:Ano1	UTSW	7	144,209,357 (GRCm39)	missense	probably damaging	1.00
R8867:Ano1	UTSW	7	144,223,397 (GRCm39)	missense	possibly damaging	0.66
R8923:Ano1	UTSW	7	144,204,288 (GRCm39)	missense	possibly damaging	0.61
R9215:Ano1	UTSW	7	144,149,342 (GRCm39)	missense	probably damaging	1.00
R9281:Ano1	UTSW	7	144,149,318 (GRCm39)	missense	probably damaging	1.00
R9572:Ano1	UTSW	7	144,204,293 (GRCm39)	critical splice acceptor site	probably null
R9668:Ano1	UTSW	7	144,164,579 (GRCm39)	critical splice donor site	probably null
R9681:Ano1	UTSW	7	144,143,893 (GRCm39)	missense	possibly damaging	0.68
R9756:Ano1	UTSW	7	144,162,666 (GRCm39)	missense	probably benign	0.45
R9780:Ano1	UTSW	7	144,209,358 (GRCm39)	missense	probably damaging	1.00
R9792:Ano1	UTSW	7	144,175,434 (GRCm39)	missense	probably damaging	1.00
R9793:Ano1	UTSW	7	144,175,434 (GRCm39)	missense	probably damaging	1.00
R9795:Ano1	UTSW	7	144,175,434 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07