Mutagenetix > Incidental Mutation

Incidental Mutation 'R0988:Ano1'

97385

Institutional Source

Beutler Lab

Gene Symbol

Ano1

Ensembl Gene

ENSMUSG00000031075

Gene Name

anoctamin 1, calcium activated chloride channel

Synonyms

Tmem16a

MMRRC Submission

039108-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144142286-144305711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 144187390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 459 (S459R)

Ref Sequence

ENSEMBL: ENSMUSP00000113899 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033393
AA Change: S401R

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033393
Gene: ENSMUSG00000031075
AA Change: S401R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118556
AA Change: S459R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113899
Gene: ENSMUSG00000031075
AA Change: S459R

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

possibly damaging
Transcript: ENSMUST00000121758
AA Change: S458R

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112616
Gene: ENSMUSG00000031075
AA Change: S458R

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: S288R

SMART Domains

Protein: ENSMUSP00000119653
Gene: ENSMUSG00000031075
AA Change: S288R

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

Meta Mutation Damage Score

0.3761

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

97% (34/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,896,310 (GRCm39)	I340V	probably benign	Het
Cop1	T	C	1: 159,060,417 (GRCm39)	V67A	possibly damaging	Het
Cop1	A	G	1: 159,072,242 (GRCm39)	Y186C	probably damaging	Het
Cst11	G	A	2: 148,612,346 (GRCm39)	T97I	probably benign	Het
Ephb2	T	A	4: 136,387,019 (GRCm39)	Y736F	possibly damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hpn	T	C	7: 30,799,323 (GRCm39)	Y271C	possibly damaging	Het
Kmt2a	A	G	9: 44,759,846 (GRCm39)	S668P	probably benign	Het
Krtap4-9	T	A	11: 99,676,362 (GRCm39)	C94*	probably null	Het
Lgmn	T	C	12: 102,364,536 (GRCm39)	D311G	probably damaging	Het
Macroh2a1	T	C	13: 56,231,109 (GRCm39)		probably null	Het
Mfsd14b	T	C	13: 65,260,307 (GRCm39)		probably benign	Het
Micu1	C	A	10: 59,592,549 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,425,532 (GRCm39)	I4726V	probably benign	Het
Nadk2	T	A	15: 9,103,080 (GRCm39)	N310K	probably damaging	Het
Napg	T	C	18: 63,116,431 (GRCm39)		probably benign	Het
Nav3	G	A	10: 109,552,389 (GRCm39)	R1818W	probably damaging	Het
Ntpcr	T	C	8: 126,464,170 (GRCm39)		probably benign	Het
Or1j13	T	C	2: 36,369,779 (GRCm39)	D121G	probably damaging	Het
Or51af1	T	A	7: 103,141,954 (GRCm39)	I44F	probably damaging	Het
Or5b99	A	G	19: 12,977,151 (GRCm39)	D267G	probably benign	Het
Or6c214	A	G	10: 129,590,866 (GRCm39)	V151A	probably benign	Het
Pdia2	A	G	17: 26,417,803 (GRCm39)	F69L	probably damaging	Het
Pik3r4	A	G	9: 105,564,404 (GRCm39)	T1333A	probably damaging	Het
Platr26	A	T	2: 71,553,631 (GRCm39)		noncoding transcript	Het
Proc	T	C	18: 32,266,536 (GRCm39)	D97G	probably benign	Het
Ptpn23	C	T	9: 110,217,845 (GRCm39)	R700H	probably benign	Het
Rragc	T	A	4: 123,818,575 (GRCm39)		probably null	Het
Serac1	A	T	17: 6,111,855 (GRCm39)	F244I	probably benign	Het
Snrpd3	A	G	10: 75,368,039 (GRCm39)	D52G	probably damaging	Het
Thrb	G	T	14: 17,981,837 (GRCm38)		probably benign	Het
Ttc6	T	C	12: 57,735,435 (GRCm39)		probably benign	Het
Zfp607b	T	A	7: 27,402,401 (GRCm39)	C286S	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCATCTGGGATTCAGTGCAGAC -3'
(R):5'- ATACACCTATGACTGCCAGGGACG -3'

Sequencing Primer
(F):5'- GGCCATCAGGTACACTATGTGAC -3'
(R):5'- TCCATTGACCCTGAAAAGTGGAC -3'

Posted On

2014-01-05