Mutagenetix > Incidental Mutation

Incidental Mutation 'R5160:Ano9'

396934

Institutional Source

Beutler Lab

Gene Symbol

Ano9

Ensembl Gene

ENSMUSG00000054662

Gene Name

anoctamin 9

Synonyms

5430425C04Rik, Tmem16j, Trp53i5, Tp53i5

MMRRC Submission

042742-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141101212-141117806 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141104365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 495 (R495C)

Ref Sequence

ENSEMBL: ENSMUSP00000067689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067836] [ENSMUST00000097958] [ENSMUST00000209294] [ENSMUST00000210167]

AlphaFold

P86044

Predicted Effect

probably damaging
Transcript: ENSMUST00000067836
AA Change: R495C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000067689
Gene: ENSMUSG00000054662
AA Change: R495C

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	174	730	3.3e-118	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097958

SMART Domains

Protein: ENSMUSP00000095571
Gene: ENSMUSG00000025494

Domain	Start	End	E-Value	Type
IG	17	112	5.21e-2	SMART
transmembrane domain	117	139	N/A	INTRINSIC
Pfam:TIR	163	327	2.2e-19	PFAM
Pfam:TIR_2	166	308	2.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157917

Predicted Effect

probably benign
Transcript: ENSMUST00000209294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210085

Predicted Effect

probably benign
Transcript: ENSMUST00000210167

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211515

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aftph	G	A	11: 20,712,197	P681L	probably benign	Het
Akap9	A	G	5: 4,030,007	R1920G	probably damaging	Het
Apoa5	A	G	9: 46,270,496	Y290C	probably damaging	Het
Apob	T	C	12: 8,012,126	I3536T	possibly damaging	Het
Arhgap42	T	G	9: 8,997,655	K823T	probably damaging	Het
Bicc1	T	C	10: 70,932,236	Y850C	probably damaging	Het
Cdh2	A	T	18: 16,629,587	D433E	probably damaging	Het
Cfap100	A	G	6: 90,413,710		probably null	Het
Col6a5	T	C	9: 105,931,009	N947D	unknown	Het
Col8a2	A	G	4: 126,310,412	K72E	possibly damaging	Het
Ddx18	A	G	1: 121,565,879		probably null	Het
Dna2	T	C	10: 62,947,154	V21A	probably benign	Het
Dnaja3	T	A	16: 4,684,288	M52K	probably benign	Het
Fnip2	G	A	3: 79,488,991	T504I	probably damaging	Het
Il18	G	A	9: 50,577,893		probably null	Het
Ina	T	A	19: 47,015,080	I109N	probably damaging	Het
Katnb1	G	T	8: 95,095,470	V275L	probably benign	Het
Kdm6b	C	A	11: 69,400,768		probably benign	Het
Kifc2	T	A	15: 76,662,977	L251Q	probably damaging	Het
Kmt2d	A	G	15: 98,840,224		probably benign	Het
Lcor	T	A	19: 41,555,614	V82E	probably damaging	Het
Limk2	A	C	11: 3,350,772	V190G	probably damaging	Het
Luc7l	A	G	17: 26,267,297	D150G	probably benign	Het
Magi3	T	A	3: 104,027,908	H903L	possibly damaging	Het
Mdh1b	C	T	1: 63,725,645	R33Q	probably null	Het
Myo9a	T	C	9: 59,871,802	F1614L	probably benign	Het
Ngly1	A	G	14: 16,281,751	T210A	probably damaging	Het
Oas1h	A	G	5: 120,871,082	Y285C	probably damaging	Het
Olfr1252	T	C	2: 89,721,419	R231G	probably damaging	Het
Olfr1382	T	C	11: 49,535,689	L168P	probably damaging	Het
Olfr1413	C	T	1: 92,573,822	T217I	probably benign	Het
Olfr209	C	T	16: 59,361,766	G151R	probably damaging	Het
Olfr364-ps1	T	A	2: 37,146,803	M197K	probably benign	Het
Olfr91	T	C	17: 37,093,724	D50G	possibly damaging	Het
Osbpl7	T	C	11: 97,054,556	S81P	probably damaging	Het
Pcdha3	T	C	18: 36,946,427	V74A	probably damaging	Het
Pi4ka	T	C	16: 17,323,053	D68G	probably benign	Het
Prkcz	A	T	4: 155,293,232	V79D	probably benign	Het
Ptpn12	T	A	5: 20,997,831	I650F	probably damaging	Het
Rb1	A	G	14: 73,264,455		silent	Het
Rnaseh2b	T	G	14: 62,353,531	Y56*	probably null	Het
Ryr3	A	T	2: 112,646,927	C4495S	probably damaging	Het
Tk1	A	G	11: 117,824,746	I45T	possibly damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Upp1	T	C	11: 9,135,193	S227P	possibly damaging	Het
Vmn1r30	T	A	6: 58,435,383	N155Y	probably benign	Het
Wdr35	C	T	12: 9,008,487	A548V	probably damaging	Het
Zc3h3	A	T	15: 75,809,663	M523K	probably benign	Het
Zc3h4	T	C	7: 16,434,648	L894P	unknown	Het
Zfp790	C	T	7: 29,829,767	H626Y	probably benign	Het
Zfp873	C	T	10: 82,061,042	H536Y	possibly damaging	Het
Zmym4	A	T	4: 126,870,184	N1354K	probably damaging	Het
Zscan20	A	G	4: 128,592,482	S142P	possibly damaging	Het

Other mutations in Ano9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Ano9	APN	7	141102042	nonsense	probably null
IGL01620:Ano9	APN	7	141110439	missense	probably damaging	1.00
IGL02045:Ano9	APN	7	141102469	missense	probably benign	0.00
IGL02506:Ano9	APN	7	141102254	unclassified	probably benign
IGL02657:Ano9	APN	7	141107440	missense	probably damaging	1.00
IGL02731:Ano9	APN	7	141107204	missense	probably damaging	1.00
IGL02863:Ano9	APN	7	141108651	missense	probably benign	0.00
R0114:Ano9	UTSW	7	141103239	unclassified	probably benign
R0374:Ano9	UTSW	7	141107814	missense	probably damaging	0.98
R0487:Ano9	UTSW	7	141107849	missense	possibly damaging	0.85
R0600:Ano9	UTSW	7	141104710	missense	probably damaging	1.00
R0702:Ano9	UTSW	7	141107282	missense	probably damaging	1.00
R0765:Ano9	UTSW	7	141107184	missense	probably damaging	1.00
R1679:Ano9	UTSW	7	141108297	missense	probably benign	0.03
R1773:Ano9	UTSW	7	141108378	missense	possibly damaging	0.95
R1809:Ano9	UTSW	7	141108804	missense	possibly damaging	0.93
R1883:Ano9	UTSW	7	141102331	missense	probably benign
R2034:Ano9	UTSW	7	141108135	missense	probably damaging	0.99
R2159:Ano9	UTSW	7	141108117	missense	probably benign	0.01
R2254:Ano9	UTSW	7	141103090	missense	probably benign
R2293:Ano9	UTSW	7	141102515	missense	probably benign
R3177:Ano9	UTSW	7	141104124	missense	probably damaging	1.00
R3277:Ano9	UTSW	7	141104124	missense	probably damaging	1.00
R4274:Ano9	UTSW	7	141110695	missense	probably benign
R4576:Ano9	UTSW	7	141104138	missense	probably damaging	1.00
R4577:Ano9	UTSW	7	141104138	missense	probably damaging	1.00
R4872:Ano9	UTSW	7	141107204	missense	probably damaging	1.00
R4879:Ano9	UTSW	7	141110502	missense	probably benign	0.23
R5560:Ano9	UTSW	7	141110482	missense	probably damaging	1.00
R6148:Ano9	UTSW	7	141106785	missense	probably damaging	1.00
R6302:Ano9	UTSW	7	141104308	missense	probably damaging	1.00
R6821:Ano9	UTSW	7	141107256	missense	possibly damaging	0.70
R7253:Ano9	UTSW	7	141107437	missense	probably damaging	0.96
R7479:Ano9	UTSW	7	141102435	missense	probably damaging	0.99
R7836:Ano9	UTSW	7	141103201	missense	probably damaging	1.00
R7942:Ano9	UTSW	7	141104076	missense	probably damaging	0.96
R8051:Ano9	UTSW	7	141104532	missense	probably damaging	1.00
R8341:Ano9	UTSW	7	141102334	missense	possibly damaging	0.94
R8690:Ano9	UTSW	7	141104307	missense	probably benign	0.26
R9137:Ano9	UTSW	7	141104115	missense	probably damaging	1.00
R9355:Ano9	UTSW	7	141101904	missense	probably benign	0.00
R9521:Ano9	UTSW	7	141102314	missense	probably benign	0.01
R9645:Ano9	UTSW	7	141107475	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TACTGGATCACTGCAGGGTG -3'
(R):5'- TCATCATGGGCCTGAAGCAAAC -3'

Sequencing Primer
(F):5'- GAAAAATCTCACTGTGTGTCCAGTCC -3'
(R):5'- GGCCTGAAGCAAACCCTGAG -3'

Posted On

2016-06-21