Mutagenetix > Incidental Mutation

Incidental Mutation 'R4638:Ano4'

350802

Institutional Source

Beutler Lab

Gene Symbol

Ano4

Ensembl Gene

ENSMUSG00000035189

Gene Name

anoctamin 4

Synonyms

Tmem16d, A330096O15Rik

MMRRC Submission

041900-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88784856-89180624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88790559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 847 (A847T)

Ref Sequence

ENSEMBL: ENSMUSP00000138325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000182341] [ENSMUST00000182462] [ENSMUST00000182613] [ENSMUST00000182790]

AlphaFold

Q8C5H1

Predicted Effect

probably damaging
Transcript: ENSMUST00000182341
AA Change: A882T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: A882T

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	339	922	4.8e-162	PFAM
low complexity region	932	945	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182462

Predicted Effect

probably damaging
Transcript: ENSMUST00000182613
AA Change: A847T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: A847T

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	304	887	3.6e-162	PFAM
low complexity region	897	910	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000182790
AA Change: A847T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: A847T

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	304	887	3.6e-162	PFAM
low complexity region	897	910	N/A	INTRINSIC

Meta Mutation Damage Score

0.3649

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

91% (40/44)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,369 (GRCm39)	D155G	probably damaging	Het
B4galt7	T	C	13: 55,747,959 (GRCm39)		probably benign	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cebpa	A	G	7: 34,819,687 (GRCm39)	N282D	probably damaging	Het
Cngb1	G	A	8: 95,992,647 (GRCm39)	T196M	probably damaging	Het
Cobll1	T	C	2: 64,929,581 (GRCm39)	M619V	probably benign	Het
Coro7	A	T	16: 4,450,151 (GRCm39)	I566N	probably damaging	Het
Dpyd	A	T	3: 119,059,726 (GRCm39)	S808C	probably benign	Het
Fbn2	A	G	18: 58,143,376 (GRCm39)	V2893A	probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Krba1	T	A	6: 48,386,685 (GRCm39)	L441*	probably null	Het
Lama5	T	C	2: 179,832,206 (GRCm39)	T1712A	possibly damaging	Het
Lnpep	G	A	17: 17,795,569 (GRCm39)	T314I	probably damaging	Het
Lyst	T	C	13: 13,871,379 (GRCm39)		probably null	Het
Naa16	C	A	14: 79,577,473 (GRCm39)		probably null	Het
Nek7	A	T	1: 138,472,038 (GRCm39)	F34Y	probably benign	Het
Or12e7	T	C	2: 87,288,327 (GRCm39)	S273P	possibly damaging	Het
Or2ag17	A	T	7: 106,390,205 (GRCm39)	M1K	probably null	Het
Park7	G	A	4: 150,991,556 (GRCm39)	Q45*	probably null	Het
Pclo	C	A	5: 14,730,447 (GRCm39)	S2983*	probably null	Het
Pth1r	A	G	9: 110,556,141 (GRCm39)	L244P	possibly damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Slc11a1	G	A	1: 74,414,437 (GRCm39)		probably benign	Het
Slc12a8	T	G	16: 33,410,693 (GRCm39)	S200A	possibly damaging	Het
Slc7a10	A	G	7: 34,897,355 (GRCm39)	E262G	probably damaging	Het
Smg1	T	C	7: 117,795,149 (GRCm39)		probably benign	Het
Snapc4	A	G	2: 26,255,314 (GRCm39)	L1070P	probably damaging	Het
Sp2	A	G	11: 96,848,300 (GRCm39)	I435T	possibly damaging	Het
Srp72	A	G	5: 77,138,142 (GRCm39)	E309G	probably benign	Het
Sympk	G	T	7: 18,777,385 (GRCm39)	R545L	possibly damaging	Het
Tie1	C	T	4: 118,341,039 (GRCm39)	R314H	probably benign	Het
Tmem198	G	T	1: 75,456,351 (GRCm39)	G2*	probably null	Het
Tmem81	A	G	1: 132,435,943 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,652,821 (GRCm39)	V10938E	possibly damaging	Het
Zfp773	T	A	7: 7,138,335 (GRCm39)	Y100F	probably damaging	Het

Other mutations in Ano4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Ano4	APN	10	88,790,529 (GRCm39)	missense	probably damaging	1.00
IGL00916:Ano4	APN	10	88,833,960 (GRCm39)	missense	probably benign	0.01
IGL01010:Ano4	APN	10	88,796,462 (GRCm39)	missense	probably benign	0.14
IGL01015:Ano4	APN	10	88,870,961 (GRCm39)	missense	probably damaging	1.00
IGL01877:Ano4	APN	10	88,860,932 (GRCm39)	nonsense	probably null	0.00
IGL02310:Ano4	APN	10	88,859,740 (GRCm39)	nonsense	probably null
IGL02390:Ano4	APN	10	88,860,843 (GRCm39)	missense	possibly damaging	0.88
IGL02560:Ano4	APN	10	88,814,603 (GRCm39)	nonsense	probably null
Dwindle	UTSW	10	88,819,640 (GRCm39)	missense	probably damaging	0.98
BB007:Ano4	UTSW	10	89,163,138 (GRCm39)	missense	possibly damaging	0.53
BB017:Ano4	UTSW	10	89,163,138 (GRCm39)	missense	possibly damaging	0.53
P0017:Ano4	UTSW	10	88,817,052 (GRCm39)	nonsense	probably null
PIT4486001:Ano4	UTSW	10	88,828,891 (GRCm39)	missense	probably damaging	1.00
R0126:Ano4	UTSW	10	88,788,154 (GRCm39)	missense	possibly damaging	0.73
R0380:Ano4	UTSW	10	88,814,675 (GRCm39)	missense	possibly damaging	0.82
R0508:Ano4	UTSW	10	88,816,839 (GRCm39)	missense	probably damaging	1.00
R0540:Ano4	UTSW	10	88,859,806 (GRCm39)	missense	probably benign	0.00
R1802:Ano4	UTSW	10	88,816,878 (GRCm39)	missense	probably damaging	1.00
R1864:Ano4	UTSW	10	88,807,253 (GRCm39)	missense	probably damaging	1.00
R1871:Ano4	UTSW	10	88,828,889 (GRCm39)	missense	probably damaging	1.00
R2829:Ano4	UTSW	10	88,948,801 (GRCm39)	missense	possibly damaging	0.58
R2880:Ano4	UTSW	10	88,948,661 (GRCm39)	missense	probably damaging	1.00
R3846:Ano4	UTSW	10	88,831,114 (GRCm39)	missense	possibly damaging	0.93
R3904:Ano4	UTSW	10	88,860,867 (GRCm39)	missense	probably damaging	1.00
R4006:Ano4	UTSW	10	88,924,125 (GRCm39)	missense	probably benign	0.18
R4429:Ano4	UTSW	10	88,828,804 (GRCm39)	missense	probably damaging	0.99
R4547:Ano4	UTSW	10	88,817,032 (GRCm39)	missense	probably null
R4640:Ano4	UTSW	10	88,790,559 (GRCm39)	missense	probably damaging	1.00
R4876:Ano4	UTSW	10	88,948,697 (GRCm39)	missense	probably damaging	1.00
R5007:Ano4	UTSW	10	88,948,807 (GRCm39)	missense	probably benign	0.26
R5104:Ano4	UTSW	10	88,903,974 (GRCm39)	missense	possibly damaging	0.61
R5151:Ano4	UTSW	10	88,948,775 (GRCm39)	missense	probably damaging	1.00
R5215:Ano4	UTSW	10	89,153,165 (GRCm39)	missense	possibly damaging	0.86
R5396:Ano4	UTSW	10	88,948,702 (GRCm39)	missense	probably damaging	1.00
R5826:Ano4	UTSW	10	88,788,189 (GRCm39)	missense	probably damaging	1.00
R6018:Ano4	UTSW	10	88,865,128 (GRCm39)	missense	probably benign	0.01
R6036:Ano4	UTSW	10	88,818,127 (GRCm39)	missense	possibly damaging	0.95
R6036:Ano4	UTSW	10	88,818,127 (GRCm39)	missense	possibly damaging	0.95
R6037:Ano4	UTSW	10	89,153,108 (GRCm39)	missense	possibly damaging	0.93
R6037:Ano4	UTSW	10	89,153,108 (GRCm39)	missense	possibly damaging	0.93
R6222:Ano4	UTSW	10	88,863,084 (GRCm39)	missense	probably damaging	1.00
R6387:Ano4	UTSW	10	88,807,267 (GRCm39)	nonsense	probably null
R6521:Ano4	UTSW	10	88,819,640 (GRCm39)	missense	probably damaging	0.98
R6739:Ano4	UTSW	10	88,863,114 (GRCm39)	missense	probably damaging	1.00
R6786:Ano4	UTSW	10	88,828,732 (GRCm39)	splice site	probably null
R7035:Ano4	UTSW	10	88,790,573 (GRCm39)	missense	probably damaging	1.00
R7523:Ano4	UTSW	10	88,807,257 (GRCm39)	nonsense	probably null
R7715:Ano4	UTSW	10	88,831,173 (GRCm39)	missense	probably damaging	0.99
R7930:Ano4	UTSW	10	89,163,138 (GRCm39)	missense	possibly damaging	0.53
R7955:Ano4	UTSW	10	88,831,088 (GRCm39)	missense	probably null	0.45
R7975:Ano4	UTSW	10	88,952,847 (GRCm39)	missense	possibly damaging	0.46
R8005:Ano4	UTSW	10	88,807,183 (GRCm39)	missense	probably benign	0.04
R8024:Ano4	UTSW	10	88,807,194 (GRCm39)	missense	probably damaging	1.00
R8168:Ano4	UTSW	10	88,816,857 (GRCm39)	missense	probably damaging	0.96
R8190:Ano4	UTSW	10	88,808,607 (GRCm39)	missense	probably benign	0.13
R8206:Ano4	UTSW	10	88,860,958 (GRCm39)	missense	probably damaging	1.00
R8252:Ano4	UTSW	10	88,816,881 (GRCm39)	missense	probably damaging	1.00
R8285:Ano4	UTSW	10	88,904,079 (GRCm39)	missense	probably damaging	0.98
R8917:Ano4	UTSW	10	88,788,160 (GRCm39)	missense	probably damaging	1.00
R9302:Ano4	UTSW	10	88,831,220 (GRCm39)	missense	probably benign	0.00
R9688:Ano4	UTSW	10	89,180,506 (GRCm39)	start codon destroyed	probably null	0.02
T0970:Ano4	UTSW	10	88,817,052 (GRCm39)	nonsense	probably null
Z1176:Ano4	UTSW	10	88,948,807 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- AAGTGAGGCTACATTATATGGCC -3'
(R):5'- GCTGGACAAAGTGACAGATGTCTAG -3'

Sequencing Primer
(F):5'- GCCATGGTGCTTTAGAAAGTCCATC -3'
(R):5'- TAGATATCGAGACTACCGGG -3'

Posted On

2015-10-08