Mutagenetix > Incidental Mutation

Incidental Mutation 'R0126:Ano4'

21388

Institutional Source

Beutler Lab

Gene Symbol

Ano4

Ensembl Gene

ENSMUSG00000035189

Gene Name

anoctamin 4

Synonyms

Tmem16d, A330096O15Rik

MMRRC Submission

038411-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0126 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

88784856-89180624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88788154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 753 (I753F)

Gene Model

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

AlphaFold

Q8C5H1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045601
AA Change: I753F

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043478
Gene: ENSMUSG00000035189
AA Change: I753F

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

possibly damaging
Transcript: ENSMUST00000182341
AA Change: I924F

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: I924F

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

possibly damaging
Transcript: ENSMUST00000182613
AA Change: I889F

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: I889F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182790
AA Change: I889F

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: I889F

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

0.0951

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.2%
20x: 81.8%

Validation Efficiency

98% (102/104)

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,742 (GRCm39)	L1730P	possibly damaging	Het
Adam9	T	C	8: 25,460,753 (GRCm39)	N577S	probably damaging	Het
Add1	T	C	5: 34,770,923 (GRCm39)	Y316H	probably benign	Het
Agpat3	T	C	10: 78,113,890 (GRCm39)	D266G	probably null	Het
Aldh3a2	C	A	11: 61,115,384 (GRCm39)	Q524H	probably benign	Het
Alox12b	A	C	11: 69,058,297 (GRCm39)	S550R	probably benign	Het
AW011738	T	A	4: 156,288,104 (GRCm39)		probably benign	Het
B4galt3	C	T	1: 171,103,738 (GRCm39)	T103M	probably damaging	Het
Cabs1	C	T	5: 88,128,054 (GRCm39)	T235I	probably damaging	Het
Casq2	A	G	3: 102,040,715 (GRCm39)	H272R	probably damaging	Het
Ccdc180	T	C	4: 45,912,866 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,584,031 (GRCm39)	M624L	probably benign	Het
Cdh5	A	C	8: 104,867,314 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,798,651 (GRCm39)		probably benign	Het
Cpne2	A	T	8: 95,281,561 (GRCm39)	I199F	probably damaging	Het
Crebbp	A	T	16: 3,901,927 (GRCm39)	F2399L	possibly damaging	Het
Defb36	T	C	2: 152,454,499 (GRCm39)	C53R	probably damaging	Het
Degs1	T	C	1: 182,107,257 (GRCm39)	M1V	probably null	Het
Disp2	T	A	2: 118,620,819 (GRCm39)	F517Y	probably damaging	Het
Dnah5	A	G	15: 28,246,465 (GRCm39)	D601G	probably benign	Het
Dnpep	G	A	1: 75,289,182 (GRCm39)	Q310*	probably null	Het
Dsg1a	A	G	18: 20,473,935 (GRCm39)	T1003A	probably benign	Het
Fbrsl1	C	G	5: 110,543,906 (GRCm39)		probably benign	Het
Foxh1	A	T	15: 76,553,454 (GRCm39)	L116H	probably damaging	Het
Gigyf2	G	A	1: 87,339,597 (GRCm39)		probably benign	Het
Golm2	T	C	2: 121,736,565 (GRCm39)		probably benign	Het
Gp1ba	A	T	11: 70,531,859 (GRCm39)		probably benign	Het
Gucy1b1	A	G	3: 81,945,218 (GRCm39)		probably benign	Het
Gucy2g	T	G	19: 55,229,598 (GRCm39)	D24A	probably benign	Het
Hirip3	A	G	7: 126,462,614 (GRCm39)	K190R	probably damaging	Het
Hmmr	T	C	11: 40,596,781 (GRCm39)	N717D	probably damaging	Het
Il12b	A	T	11: 44,301,045 (GRCm39)	Y187F	probably damaging	Het
Iqgap1	A	G	7: 80,388,070 (GRCm39)	I859T	probably benign	Het
Jmjd1c	T	C	10: 67,055,105 (GRCm39)	L175P	probably damaging	Het
Klc2	T	C	19: 5,162,774 (GRCm39)	M242V	possibly damaging	Het
Klf3	T	C	5: 64,979,446 (GRCm39)	M96T	probably benign	Het
Lrrc66	G	T	5: 73,764,431 (GRCm39)	H871N	probably benign	Het
Ltn1	A	T	16: 87,222,528 (GRCm39)	D168E	probably benign	Het
Mak	T	C	13: 41,186,072 (GRCm39)	D532G	probably damaging	Het
Marchf6	A	G	15: 31,462,151 (GRCm39)	M859T	probably benign	Het
Meak7	T	C	8: 120,489,089 (GRCm39)	D398G	possibly damaging	Het
Mlxipl	C	A	5: 135,161,177 (GRCm39)	N365K	probably damaging	Het
Mplkip	T	C	13: 17,870,337 (GRCm39)	S90P	possibly damaging	Het
Myo5c	A	T	9: 75,176,807 (GRCm39)	H584L	probably benign	Het
Myt1l	A	G	12: 29,901,719 (GRCm39)	T228A	possibly damaging	Het
Nxpe3	A	T	16: 55,686,592 (GRCm39)	Y139N	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51f2	A	G	7: 102,526,347 (GRCm39)	T7A	probably benign	Het
Or8k40	T	A	2: 86,584,981 (GRCm39)	I34L	probably damaging	Het
Pak6	C	T	2: 118,520,813 (GRCm39)	S268F	possibly damaging	Het
Parp10	G	A	15: 76,127,266 (GRCm39)	A57V	probably damaging	Het
Pik3r3	T	A	4: 116,113,465 (GRCm39)	D69E	probably damaging	Het
Polr2a	T	G	11: 69,638,251 (GRCm39)	K105T	probably damaging	Het
Prdm16	A	T	4: 154,413,295 (GRCm39)		probably benign	Het
Prepl	G	A	17: 85,390,670 (GRCm39)	T96I	probably benign	Het
Ret	C	T	6: 118,142,956 (GRCm39)		probably benign	Het
Rgl3	A	T	9: 21,887,108 (GRCm39)	D541E	probably benign	Het
Rpa1	A	C	11: 75,209,355 (GRCm39)	Y143D	probably benign	Het
Rps16	T	A	7: 28,050,508 (GRCm39)	L47Q	probably damaging	Het
Sbno2	A	T	10: 79,904,687 (GRCm39)		probably null	Het
Scube1	A	T	15: 83,505,264 (GRCm39)	N385K	probably damaging	Het
Shank2	A	G	7: 143,585,092 (GRCm39)	E31G	probably damaging	Het
Slc38a9	G	T	13: 112,865,791 (GRCm39)	C496F	possibly damaging	Het
Snap47	A	G	11: 59,328,813 (GRCm39)	V163A	probably damaging	Het
Sntg2	T	C	12: 30,251,260 (GRCm39)		probably benign	Het
Sp7	C	A	15: 102,266,895 (GRCm39)	V322F	probably damaging	Het
Spic	T	C	10: 88,511,924 (GRCm39)	K111E	probably damaging	Het
Sqor	T	C	2: 122,639,947 (GRCm39)		probably benign	Het
St6galnac1	T	A	11: 116,657,410 (GRCm39)	M385L	probably benign	Het
Synpo2	A	T	3: 122,873,511 (GRCm39)	S1211T	possibly damaging	Het
Sytl2	T	A	7: 90,045,797 (GRCm39)	V638E	probably damaging	Het
Taar1	T	A	10: 23,796,445 (GRCm39)	S48T	probably benign	Het
Tbx18	T	A	9: 87,611,706 (GRCm39)	D108V	possibly damaging	Het
Tdh	C	T	14: 63,735,042 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,881 (GRCm39)	L724Q	probably benign	Het
Tmem270	T	A	5: 134,931,642 (GRCm39)	Y100F	probably benign	Het
Trim65	G	C	11: 116,015,430 (GRCm39)		probably benign	Het
Trrap	A	T	5: 144,742,560 (GRCm39)	K1393*	probably null	Het
Ttc13	A	G	8: 125,410,030 (GRCm39)	V523A	probably damaging	Het
Utrn	T	A	10: 12,587,219 (GRCm39)	D939V	probably benign	Het
Vmn1r46	G	T	6: 89,953,935 (GRCm39)	M261I	probably benign	Het
Vwa5a	A	G	9: 38,649,103 (GRCm39)		probably null	Het
Zfp108	A	T	7: 23,960,149 (GRCm39)	T247S	probably benign	Het
Zfp366	A	T	13: 99,365,129 (GRCm39)	I97F	probably benign	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGTTTGAAGCATCTGCTCTGCACC -3'
(R):5'- AGCTGCTGAGTCAGGATTTGCTCC -3'

Sequencing Primer
(F):5'- TCTGCACCTGACCTGGATG -3'
(R):5'- TCCTCTCTAGATGGTGTCAACAAAC -3'

Posted On

2013-04-11