Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01010:Ano4'

53794

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 #

IGL01010

Quality Score

Status

Chromosome

Chromosomal Location

88784856-89180624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88796462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 680 (T680I)

Gene Model

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

AlphaFold

Q8C5H1

Predicted Effect

probably benign
Transcript: ENSMUST00000045601
AA Change: T680I

PolyPhen 2 Score 0.140 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043478
Gene: ENSMUSG00000035189
AA Change: T680I

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: T851I

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: T851I

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 benign
Transcript: ENSMUST00000182613
AA Change: T816I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: T816I

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: T816I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: T816I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 73,199,059 (GRCm39)	S155R	probably damaging	Het
Acss3	G	T	10: 106,859,710 (GRCm39)		probably benign	Het
Drosha	C	T	15: 12,827,375 (GRCm39)		probably benign	Het
Ehd3	A	G	17: 74,134,484 (GRCm39)	D281G	probably damaging	Het
Exoc5	A	G	14: 49,275,212 (GRCm39)	L196P	probably damaging	Het
Gal3st1	T	C	11: 3,946,914 (GRCm39)		probably benign	Het
Gart	G	A	16: 91,439,980 (GRCm39)	R4*	probably null	Het
Gm21738	T	A	14: 19,417,361 (GRCm38)	T56S	probably benign	Het
Gm3573	T	A	14: 42,009,523 (GRCm39)	I141L	probably benign	Het
Gpr6	A	G	10: 40,947,147 (GRCm39)	M145T	probably benign	Het
Kcns3	T	C	12: 11,142,427 (GRCm39)	M91V	probably benign	Het
Mtarc2	T	G	1: 184,551,513 (GRCm39)	I308L	probably benign	Het
Mto1	A	G	9: 78,368,925 (GRCm39)	K529R	probably benign	Het
Naip2	A	T	13: 100,291,446 (GRCm39)	V1164D	probably damaging	Het
Or2ag13	T	C	7: 106,473,460 (GRCm39)		probably benign	Het
Or8k21	A	T	2: 86,145,288 (GRCm39)	I114N	probably damaging	Het
Plekha1	T	C	7: 130,503,984 (GRCm39)		probably benign	Het
Psg26	T	C	7: 18,212,255 (GRCm39)	S367G	possibly damaging	Het
Rps6kb1	T	C	11: 86,393,592 (GRCm39)	M513V	probably benign	Het
Slitrk3	C	T	3: 72,956,606 (GRCm39)	G722D	probably benign	Het
Stag1	A	G	9: 100,827,986 (GRCm39)	E1005G	probably benign	Het
Tgfbr2	A	T	9: 115,959,048 (GRCm39)	L122Q	possibly damaging	Het
Traf2	G	A	2: 25,410,450 (GRCm39)	R400*	probably null	Het
Trim33	C	T	3: 103,254,031 (GRCm39)	Q153*	probably null	Het
Zmynd15	T	C	11: 70,356,742 (GRCm39)	Y551H	probably damaging	Het
Znrd2	A	G	19: 5,781,293 (GRCm39)	S78P	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
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

2013-06-28