Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:Ano9'

436529

Institutional Source

Beutler Lab

Gene Symbol

Ano9

Ensembl Gene

ENSMUSG00000054662

Gene Name

anoctamin 9

Synonyms

5430425C04Rik, Tmem16j, Trp53i5, Tp53i5

MMRRC Submission

043117-MU

Accession Numbers

Essential gene?

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

Stock #

R5560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141101212-141117806 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 141110482 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 80 (G80R)

Ref Sequence

ENSEMBL: ENSMUSP00000067689 (fasta)

Gene Model

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

AlphaFold

P86044

Predicted Effect

probably damaging
Transcript: ENSMUST00000067836
AA Change: G80R

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

SMART Domains

Protein: ENSMUSP00000067689
Gene: ENSMUSG00000054662
AA Change: G80R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211515

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354 (GRCm38)	E98K	possibly damaging	Het
Adipor1	T	C	1: 134,426,040 (GRCm38)	W188R	possibly damaging	Het
Agrn	T	C	4: 156,178,497 (GRCm38)	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,383,490 (GRCm38)	S570P	probably benign	Het
Arhgef2	T	A	3: 88,634,437 (GRCm38)	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,774,358 (GRCm38)	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,426,575 (GRCm38)	D40E	possibly damaging	Het
Capn12	A	G	7: 28,882,860 (GRCm38)	D133G	probably benign	Het
Ccna1	A	T	3: 55,048,569 (GRCm38)	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,741,413 (GRCm38)	Y250N	probably damaging	Het
Cep112	A	C	11: 108,437,235 (GRCm38)	K98Q	probably damaging	Het
Chst13	T	C	6: 90,318,269 (GRCm38)	D54G	probably damaging	Het
Clstn2	G	T	9: 97,469,819 (GRCm38)	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,182,435 (GRCm38)	L581M	probably damaging	Het
Cog3	T	A	14: 75,729,393 (GRCm38)	M446L	probably damaging	Het
D430042O09Rik	T	C	7: 125,854,561 (GRCm38)	V1150A	probably benign	Het
Dennd2c	T	A	3: 103,161,555 (GRCm38)	I756K	probably damaging	Het
Dennd3	T	G	15: 73,532,895 (GRCm38)	L273R	probably damaging	Het
Dhx34	C	A	7: 16,218,541 (GRCm38)	R53L	probably benign	Het
Dnah9	G	A	11: 65,881,740 (GRCm38)	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,892,752 (GRCm38)		probably null	Het
Dusp6	A	G	10: 99,266,241 (GRCm38)	Y217C	probably damaging	Het
Dyrk1b	G	A	7: 28,184,253 (GRCm38)	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,686,895 (GRCm38)	C1009S	probably benign	Het
Fam198a	T	C	9: 121,978,223 (GRCm38)	F478L	possibly damaging	Het
Frmpd1	A	T	4: 45,243,697 (GRCm38)	T57S	probably damaging	Het
Gjc2	A	G	11: 59,177,359 (GRCm38)	V99A	possibly damaging	Het
Gm9955	A	T	18: 24,709,092 (GRCm38)		probably benign	Het
Gpr158	A	G	2: 21,826,290 (GRCm38)	I734V	possibly damaging	Het
Herc1	A	T	9: 66,451,119 (GRCm38)	H2494L	probably benign	Het
Hist1h1c	A	G	13: 23,739,407 (GRCm38)	S187G	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Hmgcs1	A	G	13: 119,699,815 (GRCm38)		probably null	Het
Invs	A	T	4: 48,416,084 (GRCm38)	T655S	probably benign	Het
Ipo9	G	A	1: 135,402,245 (GRCm38)	L486F	probably damaging	Het
Kcnj6	A	T	16: 94,832,965 (GRCm38)	L96M	probably benign	Het
Lfng	A	G	5: 140,614,267 (GRCm38)	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,196,872 (GRCm38)	L139P	probably damaging	Het
Madd	C	A	2: 91,163,545 (GRCm38)	V923L	probably damaging	Het
Mfsd7a	A	T	5: 108,448,863 (GRCm38)	M1K	probably null	Het
Mical1	A	T	10: 41,478,965 (GRCm38)	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,152,816 (GRCm38)	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,195,535 (GRCm38)	K6R	probably benign	Het
Mug1	T	A	6: 121,861,073 (GRCm38)	C421S	probably damaging	Het
Myo18b	A	G	5: 112,868,295 (GRCm38)	I696T	probably damaging	Het
Naf1	T	C	8: 66,883,545 (GRCm38)	Y375H	probably damaging	Het
Nsf	T	A	11: 103,863,255 (GRCm38)	E485V	possibly damaging	Het
Nup188	A	G	2: 30,309,885 (GRCm38)	D307G	probably damaging	Het
Ocel1	C	A	8: 71,372,478 (GRCm38)	P108T	probably damaging	Het
Oip5	A	G	2: 119,613,059 (GRCm38)	S177P	probably damaging	Het
Olfr1436	G	A	19: 12,298,644 (GRCm38)	Q163*	probably null	Het
Olfr365	A	G	2: 37,201,930 (GRCm38)	I230V	probably benign	Het
Olfr51	A	C	11: 51,007,523 (GRCm38)	I184L	possibly damaging	Het
Olfr943	A	C	9: 39,184,184 (GRCm38)	E2A	probably benign	Het
Omg	A	G	11: 79,501,758 (GRCm38)	W425R	possibly damaging	Het
Pikfyve	A	G	1: 65,253,407 (GRCm38)	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,922,949 (GRCm38)	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,395,415 (GRCm38)	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,655,501 (GRCm38)	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,391,712 (GRCm38)	P91S	probably damaging	Het
Rnf10	A	G	5: 115,249,998 (GRCm38)	F367S	probably damaging	Het
Rnft1	A	T	11: 86,493,196 (GRCm38)	R307S	probably benign	Het
Ryr3	A	T	2: 112,754,877 (GRCm38)	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,846,224 (GRCm38)	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,560,286 (GRCm38)	A123E	probably damaging	Het
Setd2	T	A	9: 110,549,839 (GRCm38)	Y623*	probably null	Het
Tbl2	C	T	5: 135,157,591 (GRCm38)	Q216*	probably null	Het
Thegl	A	G	5: 77,016,486 (GRCm38)	D112G	possibly damaging	Het
Tnc	A	G	4: 64,008,709 (GRCm38)	I860T	probably damaging	Het
Trafd1	T	C	5: 121,373,303 (GRCm38)	K484R	possibly damaging	Het
Trank1	T	C	9: 111,390,567 (GRCm38)	V2124A	probably damaging	Het
Trpm4	A	T	7: 45,310,332 (GRCm38)	W713R	probably damaging	Het
Uap1l1	T	C	2: 25,362,676 (GRCm38)	T451A	probably benign	Het
Uba6	A	T	5: 86,131,260 (GRCm38)	C668S	probably damaging	Het
Ubxn11	T	C	4: 134,126,624 (GRCm38)	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,900,738 (GRCm38)	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,751,942 (GRCm38)	I90L	probably damaging	Het
Wdr60	T	C	12: 116,218,113 (GRCm38)	S769G	probably damaging	Het
Zfp330	T	C	8: 82,764,956 (GRCm38)	E196G	probably benign	Het
Zfp746	A	G	6: 48,082,174 (GRCm38)	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,201,713 (GRCm38)	E85G	possibly damaging	Het

Other mutations in Ano9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Ano9	APN	7	141,102,042 (GRCm38)	nonsense	probably null
IGL01620:Ano9	APN	7	141,110,439 (GRCm38)	missense	probably damaging	1.00
IGL02045:Ano9	APN	7	141,102,469 (GRCm38)	missense	probably benign	0.00
IGL02506:Ano9	APN	7	141,102,254 (GRCm38)	unclassified	probably benign
IGL02657:Ano9	APN	7	141,107,440 (GRCm38)	missense	probably damaging	1.00
IGL02731:Ano9	APN	7	141,107,204 (GRCm38)	missense	probably damaging	1.00
IGL02863:Ano9	APN	7	141,108,651 (GRCm38)	missense	probably benign	0.00
R0114:Ano9	UTSW	7	141,103,239 (GRCm38)	unclassified	probably benign
R0374:Ano9	UTSW	7	141,107,814 (GRCm38)	missense	probably damaging	0.98
R0487:Ano9	UTSW	7	141,107,849 (GRCm38)	missense	possibly damaging	0.85
R0600:Ano9	UTSW	7	141,104,710 (GRCm38)	missense	probably damaging	1.00
R0702:Ano9	UTSW	7	141,107,282 (GRCm38)	missense	probably damaging	1.00
R0765:Ano9	UTSW	7	141,107,184 (GRCm38)	missense	probably damaging	1.00
R1679:Ano9	UTSW	7	141,108,297 (GRCm38)	missense	probably benign	0.03
R1773:Ano9	UTSW	7	141,108,378 (GRCm38)	missense	possibly damaging	0.95
R1809:Ano9	UTSW	7	141,108,804 (GRCm38)	missense	possibly damaging	0.93
R1883:Ano9	UTSW	7	141,102,331 (GRCm38)	missense	probably benign
R2034:Ano9	UTSW	7	141,108,135 (GRCm38)	missense	probably damaging	0.99
R2159:Ano9	UTSW	7	141,108,117 (GRCm38)	missense	probably benign	0.01
R2254:Ano9	UTSW	7	141,103,090 (GRCm38)	missense	probably benign
R2293:Ano9	UTSW	7	141,102,515 (GRCm38)	missense	probably benign
R3177:Ano9	UTSW	7	141,104,124 (GRCm38)	missense	probably damaging	1.00
R3277:Ano9	UTSW	7	141,104,124 (GRCm38)	missense	probably damaging	1.00
R4274:Ano9	UTSW	7	141,110,695 (GRCm38)	missense	probably benign
R4576:Ano9	UTSW	7	141,104,138 (GRCm38)	missense	probably damaging	1.00
R4577:Ano9	UTSW	7	141,104,138 (GRCm38)	missense	probably damaging	1.00
R4872:Ano9	UTSW	7	141,107,204 (GRCm38)	missense	probably damaging	1.00
R4879:Ano9	UTSW	7	141,110,502 (GRCm38)	missense	probably benign	0.23
R5160:Ano9	UTSW	7	141,104,365 (GRCm38)	missense	probably damaging	1.00
R6148:Ano9	UTSW	7	141,106,785 (GRCm38)	missense	probably damaging	1.00
R6302:Ano9	UTSW	7	141,104,308 (GRCm38)	missense	probably damaging	1.00
R6821:Ano9	UTSW	7	141,107,256 (GRCm38)	missense	possibly damaging	0.70
R7253:Ano9	UTSW	7	141,107,437 (GRCm38)	missense	probably damaging	0.96
R7479:Ano9	UTSW	7	141,102,435 (GRCm38)	missense	probably damaging	0.99
R7836:Ano9	UTSW	7	141,103,201 (GRCm38)	missense	probably damaging	1.00
R7942:Ano9	UTSW	7	141,104,076 (GRCm38)	missense	probably damaging	0.96
R8051:Ano9	UTSW	7	141,104,532 (GRCm38)	missense	probably damaging	1.00
R8341:Ano9	UTSW	7	141,102,334 (GRCm38)	missense	possibly damaging	0.94
R8690:Ano9	UTSW	7	141,104,307 (GRCm38)	missense	probably benign	0.26
R9137:Ano9	UTSW	7	141,104,115 (GRCm38)	missense	probably damaging	1.00
R9355:Ano9	UTSW	7	141,101,904 (GRCm38)	missense	probably benign	0.00
R9521:Ano9	UTSW	7	141,102,314 (GRCm38)	missense	probably benign	0.01
R9645:Ano9	UTSW	7	141,107,475 (GRCm38)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TGATCTCCTGTGACATCCATAC -3'
(R):5'- GCAATGGCTTCCACTTCAAGG -3'

Sequencing Primer
(F):5'- GGAACTGTTGTCCTACCACAGATG -3'
(R):5'- CACTTCAAGGTGGGCTGG -3'

Posted On

2016-10-24