Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00916:Ano4'

28322

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ano4

Ensembl Gene

ENSMUSG00000035189

Gene Name

anoctamin 4

Synonyms

Tmem16d, A330096O15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00916

Quality Score

Status

Chromosome

Chromosomal Location

88784856-89180624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88833960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 459 (I459V)

Ref Sequence

ENSEMBL: ENSMUSP00000138193 (fasta)

Gene Model

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

AlphaFold

Q8C5H1

Predicted Effect

probably benign
Transcript: ENSMUST00000045601
AA Change: I288V

SMART Domains

Protein: ENSMUSP00000043478
Gene: ENSMUSG00000035189
AA Change: I288V

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	16	165	2.7e-46	PFAM
Pfam:Anoctamin	168	750	1.9e-143	PFAM
low complexity region	761	774	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182341
AA Change: I459V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: I459V

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

unknown
Transcript: ENSMUST00000182598
AA Change: I21V

Predicted Effect

probably benign
Transcript: ENSMUST00000182613
AA Change: I424V

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

SMART Domains

Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: I424V

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 benign
Transcript: ENSMUST00000182790
AA Change: I424V

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

SMART Domains

Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: I424V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182888

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,851 (GRCm39)	Q762L	probably benign	Het
Aldh1a1	T	C	19: 20,597,361 (GRCm39)	V114A	probably benign	Het
Atad5	C	T	11: 80,009,826 (GRCm39)	P1199S	probably damaging	Het
Bmp10	T	C	6: 87,406,142 (GRCm39)	F43S	possibly damaging	Het
Cd96	T	C	16: 45,861,675 (GRCm39)	E505G	probably benign	Het
Eapp	T	C	12: 54,739,593 (GRCm39)	T75A	possibly damaging	Het
Emilin1	T	C	5: 31,071,246 (GRCm39)	Y10H	probably damaging	Het
Ercc6	A	G	14: 32,284,612 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,113,923 (GRCm39)	I1089V	possibly damaging	Het
H6pd	C	A	4: 150,078,925 (GRCm39)		probably null	Het
Igsf10	A	T	3: 59,238,548 (GRCm39)	F544L	probably damaging	Het
Il23r	T	C	6: 67,450,915 (GRCm39)	Y188C	probably damaging	Het
Ilrun	A	G	17: 27,986,893 (GRCm39)	Y278H	probably damaging	Het
Inpp5j	T	C	11: 3,452,389 (GRCm39)	E287G	probably damaging	Het
Lrp6	T	C	6: 134,461,252 (GRCm39)	D735G	probably damaging	Het
Mast2	A	T	4: 116,184,830 (GRCm39)	M240K	possibly damaging	Het
Mreg	T	A	1: 72,203,291 (GRCm39)	T96S	probably benign	Het
Mta2	A	T	19: 8,924,465 (GRCm39)	M220L	probably benign	Het
Mycbp2	A	G	14: 103,528,719 (GRCm39)		probably benign	Het
Naip2	T	A	13: 100,297,939 (GRCm39)	N699I	probably damaging	Het
Ncapg	T	G	5: 45,828,534 (GRCm39)	I95S	probably benign	Het
Ndufa13	A	G	8: 70,347,069 (GRCm39)		probably benign	Het
Nol10	T	A	12: 17,411,130 (GRCm39)		probably benign	Het
Parp8	T	A	13: 117,063,859 (GRCm39)	I85F	probably damaging	Het
Rgs2	T	A	1: 143,877,967 (GRCm39)	I78F	probably damaging	Het
Rpia	C	T	6: 70,752,086 (GRCm39)		probably benign	Het
Sec63	T	C	10: 42,688,453 (GRCm39)	S488P	possibly damaging	Het
Tfcp2	T	G	15: 100,418,559 (GRCm39)	H201P	probably damaging	Het
Tnfaip2	T	G	12: 111,419,983 (GRCm39)	I705R	probably damaging	Het
Ttf1	A	G	2: 28,960,054 (GRCm39)	N554S	probably benign	Het
Ulk1	A	G	5: 110,940,877 (GRCm39)	S351P	probably damaging	Het
Zp2	T	A	7: 119,737,397 (GRCm39)	N264Y	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
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
R4638:Ano4	UTSW	10	88,790,559 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-04-17