Mutagenetix > Incidental Mutation

Incidental Mutation 'R8206:Ano4'

635922

Institutional Source

Beutler Lab

Gene Symbol

Ano4

Ensembl Gene

ENSMUSG00000035189

Gene Name

anoctamin 4

Synonyms

A330096O15Rik, Tmem16d

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_178773.4; MGI: 2443344

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8206 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88948994-89344762 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89025096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 342 (Y342H)

Ref Sequence

ENSEMBL: ENSMUSP00000138193 (fasta)

Gene Model

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

AlphaFold

Q8C5H1

Predicted Effect

probably damaging
Transcript: ENSMUST00000182341
AA Change: Y342H

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

SMART Domains

Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: Y342H

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: Y307H

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

SMART Domains

Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: Y307H

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: Y307H

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

SMART Domains

Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: Y307H

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (50/50)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110F15Rik	A	T	9: 35,839,423	F34L	possibly damaging	Het
Aqp4	T	A	18: 15,393,659	D255V	possibly damaging	Het
Arhgap26	C	A	18: 39,306,750	S247*	probably null	Het
Arid4a	A	G	12: 71,086,587	D1154G	probably damaging	Het
Atpaf2	A	G	11: 60,404,478	I182T	probably damaging	Het
Cacna1i	C	A	15: 80,389,815		probably null	Het
Ccdc38	A	G	10: 93,563,284	S205G	probably damaging	Het
Cep63	A	G	9: 102,621,271		probably benign	Het
Cyp24a1	T	C	2: 170,491,669	T255A	possibly damaging	Het
Dlg5	A	G	14: 24,160,268	S787P	possibly damaging	Het
Dnah6	A	T	6: 73,037,566	C3679*	probably null	Het
Dpy19l3	T	C	7: 35,729,730	Y95C	probably damaging	Het
Erc2	G	A	14: 28,303,015		probably null	Het
Ezh2	A	T	6: 47,532,900		probably null	Het
Fgfr1	A	G	8: 25,570,242	T463A	probably damaging	Het
Fsip2	T	C	2: 82,990,464	S5514P	possibly damaging	Het
Glrb	A	G	3: 80,851,066	Y347H	probably damaging	Het
Gm14325	C	A	2: 177,832,974	C105F	probably damaging	Het
Hgsnat	T	C	8: 25,954,637	T428A	probably damaging	Het
Ighv1-76	T	C	12: 115,848,314	M1V	probably null	Het
Inppl1	A	G	7: 101,823,576	I1207T	possibly damaging	Het
Kmt2c	T	A	5: 25,314,539	Q2191L	probably damaging	Het
Krt79	T	A	15: 101,940,270		probably null	Het
Mast4	G	A	13: 102,735,739	L2374F	probably damaging	Het
Mfsd7c	GTAGTGTATA	GTA	12: 85,803,148		probably null	Het
Mgam	A	G	6: 40,680,235	N951S	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naip6	A	T	13: 100,294,836	C1164*	probably null	Het
Nfatc2ip	G	T	7: 126,390,734	D189E	probably damaging	Het
Nrp1	A	G	8: 128,457,957	D361G	probably damaging	Het
Nrp2	T	C	1: 62,747,215	I293T	probably damaging	Het
Pde3a	T	C	6: 141,487,885	V831A	probably damaging	Het
Pirb	A	G	7: 3,712,906		probably null	Het
Plch1	G	T	3: 63,702,626		probably null	Het
Plekhh2	A	G	17: 84,590,849	T973A	possibly damaging	Het
Ppp1r35	T	A	5: 137,780,034	I97K	unknown	Het
Ppp1r3c	C	T	19: 36,733,446	G308E	probably benign	Het
Prss12	G	A	3: 123,464,962		probably null	Het
Rad51b	A	G	12: 79,314,941	D142G	probably damaging	Het
Slc13a3	C	T	2: 165,406,825	G553D	probably damaging	Het
Spata31d1d	A	C	13: 59,731,530	V64G	probably benign	Het
Srp68	G	A	11: 116,273,983	R42C	probably damaging	Het
Syne2	T	C	12: 76,015,591	V4229A	probably benign	Het
Tas2r144	G	A	6: 42,215,391	V22M	probably damaging	Het
Tcf7l1	A	G	6: 72,627,412	L583P	probably damaging	Het
Tdgf1	G	A	9: 110,944,284		probably benign	Het
Tdrd3	A	G	14: 87,511,778	D708G	probably benign	Het
Tns4	A	T	11: 99,085,801	L98Q	probably damaging	Het
Zfp677	T	A	17: 21,392,455		probably null	Het

Other mutations in Ano4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Ano4	APN	10	88954667	missense	probably damaging	1.00
IGL00916:Ano4	APN	10	88998098	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TTAGAAGAGGCAAGCTCACC -3'
(R):5'- GGTATATAGCTATGTCCCTTCAGG -3'

Sequencing Primer
(F):5'- ACCCATGAGTTCCCCGTAC -3'
(R):5'- CTTCAGGGGCAGGGTAATCATACTC -3'

Posted On

2020-07-13