Mutagenetix > Incidental Mutation

Incidental Mutation 'R8285:Ano4'

638426

Institutional Source

Beutler Lab

Gene Symbol

Ano4

Ensembl Gene

ENSMUSG00000035189

Gene Name

anoctamin 4

Synonyms

Tmem16d, A330096O15Rik

MMRRC Submission

067653-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8285 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88784856-89180624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88904079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 206 (I206T)

Ref Sequence

ENSEMBL: ENSMUSP00000138792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000181976] [ENSMUST00000182341] [ENSMUST00000182419] [ENSMUST00000182462] [ENSMUST00000182613] [ENSMUST00000182790] [ENSMUST00000183268]

AlphaFold

Q8C5H1

Predicted Effect

probably damaging
Transcript: ENSMUST00000181976
AA Change: I206T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000182341
AA Change: I206T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: I206T

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: ENSMUST00000182419

SMART Domains

Protein: ENSMUSP00000138435
Gene: ENSMUSG00000035189

Domain	Start	End	E-Value	Type
low complexity region	97	110	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182462

Predicted Effect

probably benign
Transcript: ENSMUST00000182613
AA Change: I171T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: I171T

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: I171T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: I171T

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: ENSMUST00000183268

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5pf	A	G	16: 84,625,390 (GRCm39)	L71P	probably damaging	Het
Bcar3	A	T	3: 122,306,383 (GRCm39)	I468F	probably benign	Het
Ddi1	T	A	9: 6,265,808 (GRCm39)	Q187L	probably benign	Het
Dgkh	T	C	14: 78,865,566 (GRCm39)	N139D	probably benign	Het
Fan1	A	T	7: 64,016,348 (GRCm39)	I592N	probably damaging	Het
Fchsd2	T	C	7: 100,883,128 (GRCm39)	F252S	possibly damaging	Het
Gad2	T	A	2: 22,514,940 (GRCm39)	N139K	probably benign	Het
Gm12695	G	A	4: 96,657,990 (GRCm39)	R60W	possibly damaging	Het
Gucy1b2	A	G	14: 62,657,556 (GRCm39)	V224A	probably damaging	Het
Hspg2	A	G	4: 137,239,974 (GRCm39)	D514G	probably benign	Het
Igsf23	T	C	7: 19,675,881 (GRCm39)	D113G	possibly damaging	Het
Inhbc	T	C	10: 127,206,010 (GRCm39)	T86A	probably benign	Het
Itga11	T	C	9: 62,659,540 (GRCm39)	S431P	probably damaging	Het
Kif13b	A	G	14: 65,019,825 (GRCm39)	H1398R	probably benign	Het
Lce1f	T	C	3: 92,626,238 (GRCm39)	S140G	unknown	Het
Mapt	T	A	11: 104,189,628 (GRCm39)	D215E	probably benign	Het
Maz	T	C	7: 126,624,644 (GRCm39)	Y292C	possibly damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mpo	A	G	11: 87,688,393 (GRCm39)	M351V	probably benign	Het
Muc16	G	A	9: 18,554,273 (GRCm39)	P4007S	unknown	Het
Or4k47	A	T	2: 111,452,390 (GRCm39)	S10T	probably benign	Het
Or5h26	G	A	16: 58,988,176 (GRCm39)	T110I	probably benign	Het
Or5t9	T	C	2: 86,659,443 (GRCm39)	F116L	probably benign	Het
Ppp3ca	A	G	3: 136,587,205 (GRCm39)	D229G	probably damaging	Het
Pramel25	T	A	4: 143,520,636 (GRCm39)	D293E	probably benign	Het
Rab39	A	T	9: 53,617,231 (GRCm39)	I62N	probably damaging	Het
Rgs6	A	G	12: 83,162,949 (GRCm39)	E385G	probably benign	Het
Scaf8	T	C	17: 3,227,404 (GRCm39)	S340P	unknown	Het
Scpep1	A	G	11: 88,843,293 (GRCm39)	L55P	probably damaging	Het
Sorbs2	T	C	8: 46,249,104 (GRCm39)	L785P	probably damaging	Het
Supt16	A	T	14: 52,418,540 (GRCm39)	V239E	possibly damaging	Het
Usf3	T	C	16: 44,041,207 (GRCm39)	S1896P	probably damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Zfhx4	C	T	3: 5,466,916 (GRCm39)	T2383I	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
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
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'- TACATTGTCCCTCCCACAGG -3'
(R):5'- AATGCTGAGGCCACTTAGTG -3'

Sequencing Primer
(F):5'- GGCAAAGGCTCTATCCTGCTG -3'
(R):5'- TGAGGCCACTTAGTGAACCTG -3'

Posted On

2020-07-28