Mutagenetix > Incidental Mutation

Incidental Mutation 'R4640:Ano4'

351614

Institutional Source

Beutler Lab

Gene Symbol

Ano4

Ensembl Gene

ENSMUSG00000035189

Gene Name

anoctamin 4

Synonyms

Tmem16d, A330096O15Rik

MMRRC Submission

041902-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4640 (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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

93% (39/42)

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
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgrl4	T	C	3: 151,205,947 (GRCm39)		probably benign	Het
Atp11a	A	G	8: 12,878,434 (GRCm39)		probably benign	Het
Cct4	T	A	11: 22,952,297 (GRCm39)	S463T	probably benign	Het
Cfap251	G	T	5: 123,440,495 (GRCm39)	V1094L	probably benign	Het
Cnmd	T	C	14: 79,894,093 (GRCm39)	N98S	probably damaging	Het
Copz2	A	T	11: 96,747,533 (GRCm39)	Q172L	possibly damaging	Het
Ctdp1	C	A	18: 80,494,369 (GRCm39)		probably null	Het
Cyfip1	C	T	7: 55,563,199 (GRCm39)	T865I	possibly damaging	Het
Cyp2c37	A	T	19: 40,000,276 (GRCm39)	D466V	possibly damaging	Het
Dytn	A	G	1: 63,682,507 (GRCm39)	L380P	possibly damaging	Het
Fam124b	G	A	1: 80,191,243 (GRCm39)	R47C	probably damaging	Het
Foxe3	G	A	4: 114,782,972 (GRCm39)	A80V	probably damaging	Het
Gm5884	A	G	6: 128,622,734 (GRCm39)		noncoding transcript	Het
Kera	A	T	10: 97,448,749 (GRCm39)	Y323F	probably damaging	Het
Lipf	A	T	19: 33,946,197 (GRCm39)	Y205F	probably damaging	Het
Lipo2	T	C	19: 33,698,237 (GRCm39)	E380G	probably benign	Het
Mcm2	A	T	6: 88,864,786 (GRCm39)	H563Q	possibly damaging	Het
Mindy3	T	C	2: 12,352,974 (GRCm39)	E409G	probably benign	Het
Mns1	A	G	9: 72,346,564 (GRCm39)	K16E	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nlrp4g	T	C	9: 124,349,153 (GRCm38)		noncoding transcript	Het
Nrxn1	A	G	17: 90,868,196 (GRCm39)	S1105P	probably damaging	Het
Odf2l	G	A	3: 144,834,706 (GRCm39)	R186H	probably damaging	Het
Or13g1	T	A	7: 85,956,274 (GRCm39)	T16S	probably benign	Het
Or2d3c	T	C	7: 106,525,800 (GRCm39)	I289V	possibly damaging	Het
Phxr2	T	C	10: 98,961,931 (GRCm39)		probably benign	Het
Plcxd3	T	C	15: 4,546,725 (GRCm39)	F243S	probably damaging	Het
Ppp1r27	T	C	11: 120,441,553 (GRCm39)	N76D	possibly damaging	Het
Ptprz1	A	G	6: 22,972,797 (GRCm39)	T236A	probably damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
R3hdm1	T	C	1: 128,102,975 (GRCm39)		probably benign	Het
Sall2	T	A	14: 52,552,616 (GRCm39)	Q193L	probably damaging	Het
Srpk1	T	C	17: 28,827,698 (GRCm39)	S39G	probably benign	Het
Tcaf3	A	G	6: 42,564,513 (GRCm39)	V883A	probably damaging	Het
Tmem104	T	A	11: 115,134,550 (GRCm39)	V362E	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
R4638: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