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

A330096O15Rik, Tmem16d

Accession Numbers

Ncbi RefSeq: NM_178773.4; MGI: 2443344

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00916

Quality Score

Status

Chromosome

Chromosomal Location

88948994-89344762 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88998098 bp (GRCm38)

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: 23,075,852	Q762L	probably benign	Het
Aldh1a1	T	C	19: 20,619,997	V114A	probably benign	Het
Atad5	C	T	11: 80,119,000	P1199S	probably damaging	Het
Bmp10	T	C	6: 87,429,160	F43S	possibly damaging	Het
Cd96	T	C	16: 46,041,312	E505G	probably benign	Het
D17Wsu92e	A	G	17: 27,767,919	Y278H	probably damaging	Het
Eapp	T	C	12: 54,692,808	T75A	possibly damaging	Het
Emilin1	T	C	5: 30,913,902	Y10H	probably damaging	Het
Ercc6	A	G	14: 32,562,655		probably benign	Het
Gucy2e	T	C	11: 69,223,097	I1089V	possibly damaging	Het
H6pd	C	A	4: 149,994,468		probably null	Het
Igsf10	A	T	3: 59,331,127	F544L	probably damaging	Het
Il23r	T	C	6: 67,473,931	Y188C	probably damaging	Het
Inpp5j	T	C	11: 3,502,389	E287G	probably damaging	Het
Lrp6	T	C	6: 134,484,289	D735G	probably damaging	Het
Mast2	A	T	4: 116,327,633	M240K	possibly damaging	Het
Mreg	T	A	1: 72,164,132	T96S	probably benign	Het
Mta2	A	T	19: 8,947,101	M220L	probably benign	Het
Mycbp2	A	G	14: 103,291,283		probably benign	Het
Naip2	T	A	13: 100,161,431	N699I	probably damaging	Het
Ncapg	T	G	5: 45,671,192	I95S	probably benign	Het
Ndufa13	A	G	8: 69,894,419		probably benign	Het
Nol10	T	A	12: 17,361,129		probably benign	Het
Parp8	T	A	13: 116,927,323	I85F	probably damaging	Het
Rgs2	T	A	1: 144,002,229	I78F	probably damaging	Het
Rpia	C	T	6: 70,775,102		probably benign	Het
Sec63	T	C	10: 42,812,457	S488P	possibly damaging	Het
Tfcp2	T	G	15: 100,520,678	H201P	probably damaging	Het
Tnfaip2	T	G	12: 111,453,549	I705R	probably damaging	Het
Ttf1	A	G	2: 29,070,042	N554S	probably benign	Het
Ulk1	A	G	5: 110,793,011	S351P	probably damaging	Het
Zp2	T	A	7: 120,138,174	N264Y	probably damaging	Het

Other mutations in Ano4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Ano4	APN	10	88954667	missense	probably damaging	1.00
IGL01010:Ano4	APN	10	88960600	missense	probably benign	0.14
IGL01015:Ano4	APN	10	89035099	missense	probably damaging	1.00
IGL01877:Ano4	APN	10	89025070	nonsense	probably null	0.00
IGL02310:Ano4	APN	10	89023878	nonsense	probably null
IGL02390:Ano4	APN	10	89024981	missense	possibly damaging	0.88
IGL02560:Ano4	APN	10	88978741	nonsense	probably null
Dwindle	UTSW	10	88983778	missense	probably damaging	0.98
BB007:Ano4	UTSW	10	89327276	missense	possibly damaging	0.53
BB017:Ano4	UTSW	10	89327276	missense	possibly damaging	0.53
P0017:Ano4	UTSW	10	88981190	nonsense	probably null
PIT4486001:Ano4	UTSW	10	88993029	missense	probably damaging	1.00
R0126:Ano4	UTSW	10	88952292	missense	possibly damaging	0.73
R0380:Ano4	UTSW	10	88978813	missense	possibly damaging	0.82
R0508:Ano4	UTSW	10	88980977	missense	probably damaging	1.00
R0540:Ano4	UTSW	10	89023944	missense	probably benign	0.00
R1802:Ano4	UTSW	10	88981016	missense	probably damaging	1.00
R1864:Ano4	UTSW	10	88971391	missense	probably damaging	1.00
R1871:Ano4	UTSW	10	88993027	missense	probably damaging	1.00
R2829:Ano4	UTSW	10	89112939	missense	possibly damaging	0.58
R2880:Ano4	UTSW	10	89112799	missense	probably damaging	1.00
R3846:Ano4	UTSW	10	88995252	missense	possibly damaging	0.93
R3904:Ano4	UTSW	10	89025005	missense	probably damaging	1.00
R4006:Ano4	UTSW	10	89088263	missense	probably benign	0.18
R4429:Ano4	UTSW	10	88992942	missense	probably damaging	0.99
R4547:Ano4	UTSW	10	88981170	missense	probably null
R4638:Ano4	UTSW	10	88954697	missense	probably damaging	1.00
R4640:Ano4	UTSW	10	88954697	missense	probably damaging	1.00
R4876:Ano4	UTSW	10	89112835	missense	probably damaging	1.00
R5007:Ano4	UTSW	10	89112945	missense	probably benign	0.26
R5104:Ano4	UTSW	10	89068112	missense	possibly damaging	0.61
R5151:Ano4	UTSW	10	89112913	missense	probably damaging	1.00
R5215:Ano4	UTSW	10	89317303	missense	possibly damaging	0.86
R5396:Ano4	UTSW	10	89112840	missense	probably damaging	1.00
R5826:Ano4	UTSW	10	88952327	missense	probably damaging	1.00
R6018:Ano4	UTSW	10	89029266	missense	probably benign	0.01
R6036:Ano4	UTSW	10	88982265	missense	possibly damaging	0.95
R6036:Ano4	UTSW	10	88982265	missense	possibly damaging	0.95
R6037:Ano4	UTSW	10	89317246	missense	possibly damaging	0.93
R6037:Ano4	UTSW	10	89317246	missense	possibly damaging	0.93
R6222:Ano4	UTSW	10	89027222	missense	probably damaging	1.00
R6387:Ano4	UTSW	10	88971405	nonsense	probably null
R6521:Ano4	UTSW	10	88983778	missense	probably damaging	0.98
R6739:Ano4	UTSW	10	89027252	missense	probably damaging	1.00
R6786:Ano4	UTSW	10	88992870	splice site	probably null
R7035:Ano4	UTSW	10	88954711	missense	probably damaging	1.00
R7523:Ano4	UTSW	10	88971395	nonsense	probably null
R7715:Ano4	UTSW	10	88995311	missense	probably damaging	0.99
R7930:Ano4	UTSW	10	89327276	missense	possibly damaging	0.53
R7955:Ano4	UTSW	10	88995226	missense	probably null	0.45
R7975:Ano4	UTSW	10	89116985	missense	possibly damaging	0.46
R8005:Ano4	UTSW	10	88971321	missense	probably benign	0.04
R8024:Ano4	UTSW	10	88971332	missense	probably damaging	1.00
R8168:Ano4	UTSW	10	88980995	missense	probably damaging	0.96
R8190:Ano4	UTSW	10	88972745	missense	probably benign	0.13
R8206:Ano4	UTSW	10	89025096	missense	probably damaging	1.00
R8252:Ano4	UTSW	10	88981019	missense	probably damaging	1.00
R8285:Ano4	UTSW	10	89068217	missense	probably damaging	0.98
R8917:Ano4	UTSW	10	88952298	missense	probably damaging	1.00
R9302:Ano4	UTSW	10	88995358	missense	probably benign	0.00
R9688:Ano4	UTSW	10	89344644	start codon destroyed	probably null	0.02
T0970:Ano4	UTSW	10	88981190	nonsense	probably null
Z1176:Ano4	UTSW	10	89112945	missense	probably benign	0.37

Posted On

2013-04-17