Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01407:Ano1'

79846

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 #

IGL01407

Quality Score

Status

Chromosome

Chromosomal Location

144142286-144305711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144190848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 411 (L411H)

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: L354H

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: L354H

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: L412H

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: L412H

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: L411H

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: L411H

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

unknown
Transcript: ENSMUST00000152531
AA Change: L241H

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: L241H

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: ENSMUST00000208094

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,076,288 (GRCm39)	D1140V	probably damaging	Het
Ak1	G	T	2: 32,523,507 (GRCm39)		probably benign	Het
Atad2	A	T	15: 57,967,921 (GRCm39)	N569K	probably benign	Het
Bst2	C	A	8: 71,989,830 (GRCm39)	R81L	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Chrna5	C	T	9: 54,911,683 (GRCm39)	T57M	possibly damaging	Het
Cp	A	T	3: 20,031,369 (GRCm39)	D602V	possibly damaging	Het
Drd2	T	C	9: 49,312,115 (GRCm39)	I156T	probably damaging	Het
Elp4	G	A	2: 105,622,653 (GRCm39)	R349W	probably damaging	Het
Eml6	G	A	11: 29,705,021 (GRCm39)	R1508*	probably null	Het
Etl4	T	C	2: 20,748,667 (GRCm39)	L335S	probably damaging	Het
Fat3	A	T	9: 16,289,319 (GRCm39)	I68K	probably benign	Het
Fyco1	G	T	9: 123,657,944 (GRCm39)	A744D	probably damaging	Het
Gm22165	G	T	3: 64,012,886 (GRCm39)		probably benign	Het
Gse1	T	C	8: 121,280,326 (GRCm39)	M1T	probably null	Het
Hs3st5	A	T	10: 36,709,404 (GRCm39)	H313L	probably damaging	Het
Hsd17b3	T	C	13: 64,210,719 (GRCm39)	Y212C	probably damaging	Het
Hyal5	G	T	6: 24,876,406 (GRCm39)	S93I	probably benign	Het
Itgb1	T	C	8: 129,449,315 (GRCm39)	V578A	probably benign	Het
Klf12	A	T	14: 100,347,294 (GRCm39)	N12K	possibly damaging	Het
Krt40	C	T	11: 99,432,045 (GRCm39)	C222Y	probably damaging	Het
Lrrn2	T	C	1: 132,864,965 (GRCm39)	L10P	probably damaging	Het
Lrsam1	T	C	2: 32,837,915 (GRCm39)	Y213C	probably damaging	Het
Mitf	C	A	6: 97,994,892 (GRCm39)	T277K	possibly damaging	Het
Ncan	C	T	8: 70,554,607 (GRCm39)	R1070H	probably benign	Het
Nr4a3	A	G	4: 48,083,201 (GRCm39)	E578G	probably benign	Het
Patj	A	G	4: 98,301,287 (GRCm39)	T191A	possibly damaging	Het
Pign	A	G	1: 105,517,027 (GRCm39)	V533A	probably benign	Het
Smad5	G	A	13: 56,883,630 (GRCm39)	V339I	probably benign	Het
Spem2	T	A	11: 69,708,065 (GRCm39)	Y300F	possibly damaging	Het
Trank1	T	G	9: 111,193,790 (GRCm39)	S605A	probably damaging	Het
Treml4	T	A	17: 48,571,877 (GRCm39)	D93E	possibly damaging	Het
Tsc22d2	T	A	3: 58,323,924 (GRCm39)	V272E	probably damaging	Het
Vmn2r19	T	A	6: 123,306,826 (GRCm39)	F445I	possibly damaging	Het
Zfp712	T	A	13: 67,190,230 (GRCm39)	Q99L	possibly damaging	Het
Zfp719	A	T	7: 43,233,611 (GRCm39)	K10I	probably benign	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	144,198,479 (GRCm39)	missense	probably benign	0.00
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
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

2013-11-05