Mutagenetix > Incidental Mutation

Incidental Mutation 'R0600:Ano9'

55311

Institutional Source

Beutler Lab

Gene Symbol

Ano9

Ensembl Gene

ENSMUSG00000054662

Gene Name

anoctamin 9

Synonyms

5430425C04Rik, Tmem16j, Trp53i5, Tp53i5

MMRRC Submission

038789-MU

Accession Numbers

Essential gene?

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

Stock #

R0600 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141101212-141117806 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141104710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 442 (G442R)

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: G442R

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

SMART Domains

Protein: ENSMUSP00000067689
Gene: ENSMUSG00000054662
AA Change: G442R

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

Meta Mutation Damage Score

0.5894

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (95/96)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 131,357,660 (GRCm38)	S150P	probably damaging	Het
5530400C23Rik	T	G	6: 133,293,211 (GRCm38)		probably benign	Het
Ahctf1	A	C	1: 179,763,468 (GRCm38)		probably null	Het
Ang5	T	C	14: 43,962,749 (GRCm38)	V90A	probably benign	Het
Apaf1	G	A	10: 91,060,052 (GRCm38)	T386I	probably damaging	Het
Apob	C	A	12: 8,006,440 (GRCm38)	H1608N	probably damaging	Het
Arhgap12	C	A	18: 6,064,433 (GRCm38)		probably benign	Het
Asxl1	T	A	2: 153,399,904 (GRCm38)	D791E	probably benign	Het
Avl9	T	C	6: 56,736,906 (GRCm38)	V383A	probably benign	Het
Btbd1	A	C	7: 81,816,006 (GRCm38)	D197E	probably damaging	Het
Camta2	T	C	11: 70,673,959 (GRCm38)	I938V	possibly damaging	Het
Ccn5	G	A	2: 163,825,313 (GRCm38)	C78Y	probably damaging	Het
Cdca7	C	A	2: 72,483,467 (GRCm38)	A200D	possibly damaging	Het
Cep104	A	T	4: 154,006,792 (GRCm38)	Y923F	possibly damaging	Het
Cep135	G	C	5: 76,621,305 (GRCm38)	V601L	probably benign	Het
Ces2b	G	A	8: 104,835,910 (GRCm38)	G291S	probably benign	Het
Col6a6	C	T	9: 105,761,440 (GRCm38)	G1400D	probably damaging	Het
Cyth2	T	C	7: 45,813,117 (GRCm38)	E1G	probably damaging	Het
Dand5	A	T	8: 84,816,292 (GRCm38)	L185Q	probably damaging	Het
Dck	T	C	5: 88,781,221 (GRCm38)	V253A	probably benign	Het
Ddx20	A	G	3: 105,679,080 (GRCm38)	S650P	probably damaging	Het
Dicer1	G	A	12: 104,706,864 (GRCm38)	P799S	probably damaging	Het
Dst	C	T	1: 34,189,119 (GRCm38)	P1606L	probably damaging	Het
Eya2	G	A	2: 165,769,237 (GRCm38)	C477Y	probably damaging	Het
Fip1l1	T	A	5: 74,595,842 (GRCm38)	N498K	probably damaging	Het
Flt4	C	T	11: 49,636,339 (GRCm38)		probably benign	Het
Galntl6	T	C	8: 57,837,183 (GRCm38)		probably null	Het
Gda	A	T	19: 21,434,303 (GRCm38)	F44I	possibly damaging	Het
Gli2	G	A	1: 118,840,389 (GRCm38)	R703C	probably damaging	Het
Golgb1	T	A	16: 36,916,271 (GRCm38)	L1960Q	probably damaging	Het
Gramd1b	T	C	9: 40,308,355 (GRCm38)	D341G	probably damaging	Het
Grid2	G	T	6: 63,503,435 (GRCm38)	A78S	probably benign	Het
Hao2	A	T	3: 98,883,560 (GRCm38)		probably benign	Het
Hook3	A	G	8: 26,118,986 (GRCm38)	V10A	probably benign	Het
Kif20a	A	G	18: 34,629,209 (GRCm38)	E425G	probably damaging	Het
Lrp1	T	C	10: 127,567,383 (GRCm38)	D2107G	probably benign	Het
Lrriq3	T	C	3: 155,187,736 (GRCm38)	I358T	possibly damaging	Het
Mad2l2	A	G	4: 148,140,924 (GRCm38)	D17G	possibly damaging	Het
Mastl	G	T	2: 23,133,346 (GRCm38)	T455K	probably benign	Het
Mkln1	G	T	6: 31,432,927 (GRCm38)		probably benign	Het
Mmp1b	A	T	9: 7,387,947 (GRCm38)	Y16N	possibly damaging	Het
Mmp24	C	T	2: 155,792,597 (GRCm38)	A79V	probably benign	Het
Mrps35	T	A	6: 147,070,734 (GRCm38)	C292S	possibly damaging	Het
Myom1	T	C	17: 71,120,648 (GRCm38)	F1435L	possibly damaging	Het
Nars2	C	T	7: 97,039,923 (GRCm38)	H351Y	probably damaging	Het
Nat2	A	T	8: 67,501,267 (GRCm38)	I10F	probably damaging	Het
Nfix	G	A	8: 84,726,526 (GRCm38)	R300C	probably damaging	Het
Olfm5	A	T	7: 104,153,869 (GRCm38)	Y462*	probably null	Het
Or13p5	C	T	4: 118,734,789 (GRCm38)	H87Y	probably damaging	Het
Or1j12	C	A	2: 36,452,648 (GRCm38)	A21E	probably benign	Het
Or2w3	C	A	11: 58,666,160 (GRCm38)	F200L	probably damaging	Het
Or4c122	C	A	2: 89,249,398 (GRCm38)	E87*	probably null	Het
Or4e1	T	C	14: 52,463,509 (GRCm38)	I167V	probably benign	Het
Or5p70	T	A	7: 108,395,231 (GRCm38)	I37N	probably damaging	Het
Or7g35	T	C	9: 19,585,304 (GRCm38)	S256P	possibly damaging	Het
Or8d2b	T	A	9: 38,877,815 (GRCm38)	I213N	probably damaging	Het
Or8g20	A	T	9: 39,484,988 (GRCm38)	F85L	probably benign	Het
Otog	A	T	7: 46,251,395 (GRCm38)		probably benign	Het
Pdcd2l	A	T	7: 34,192,807 (GRCm38)	D212E	possibly damaging	Het
Pex5	T	C	6: 124,404,637 (GRCm38)	N213S	probably benign	Het
Pkn3	C	T	2: 30,081,134 (GRCm38)	P238S	probably benign	Het
Pramel32	A	T	4: 88,629,299 (GRCm38)	I45K	probably damaging	Het
Prl2b1	A	T	13: 27,390,740 (GRCm38)		probably null	Het
Ptprb	A	T	10: 116,368,807 (GRCm38)	I1849L	possibly damaging	Het
Rasal3	G	T	17: 32,393,526 (GRCm38)	S787Y	probably damaging	Het
Scn2a	T	A	2: 65,701,833 (GRCm38)	D596E	possibly damaging	Het
Sdhd	A	T	9: 50,603,764 (GRCm38)	V9D	possibly damaging	Het
Serinc5	T	C	13: 92,708,057 (GRCm38)	S436P	probably damaging	Het
Slc27a1	C	T	8: 71,584,164 (GRCm38)	P348L	probably damaging	Het
Slc28a2b	A	T	2: 122,514,398 (GRCm38)	I162F	probably damaging	Het
Smg1	G	A	7: 118,160,383 (GRCm38)		probably benign	Het
Sorl1	A	T	9: 42,043,900 (GRCm38)		probably benign	Het
Sprtn	T	A	8: 124,900,218 (GRCm38)	H112Q	probably damaging	Het
Tasor2	A	T	13: 3,576,054 (GRCm38)	F1299I	probably benign	Het
Tet2	A	G	3: 133,467,602 (GRCm38)	M1633T	probably benign	Het
Tet2	T	A	3: 133,467,725 (GRCm38)	D1592V	probably benign	Het
Tmem68	A	T	4: 3,569,667 (GRCm38)	C8S	probably damaging	Het
Tnrc6a	T	A	7: 123,171,816 (GRCm38)	I943N	probably benign	Het
Trib2	A	T	12: 15,794,068 (GRCm38)	V191D	probably damaging	Het
Tsc22d4	T	C	5: 137,762,655 (GRCm38)	S113P	probably damaging	Het
Ttc21b	T	C	2: 66,239,570 (GRCm38)	R250G	probably damaging	Het
Ubr2	T	C	17: 46,967,248 (GRCm38)	Y721C	probably damaging	Het
Ubtfl1	A	T	9: 18,409,364 (GRCm38)	I63F	probably damaging	Het
Ush1c	G	A	7: 46,224,908 (GRCm38)	P171S	probably benign	Het
Utp20	A	T	10: 88,767,461 (GRCm38)	N1843K	probably damaging	Het
Vangl1	A	G	3: 102,166,937 (GRCm38)	Y285H	probably damaging	Het
Virma	A	G	4: 11,498,769 (GRCm38)	D70G	probably damaging	Het
Vmn2r102	T	C	17: 19,678,015 (GRCm38)	F431L	probably benign	Het
Wdr17	A	G	8: 54,661,495 (GRCm38)	I662T	probably damaging	Het
Wdr87-ps	T	A	7: 29,533,265 (GRCm38)		noncoding transcript	Het
Zfp160	G	A	17: 21,027,006 (GRCm38)	R606H	probably benign	Het
Zfp369	C	T	13: 65,296,434 (GRCm38)	R464C	probably 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
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
R5560:Ano9	UTSW	7	141,110,482 (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'- ATGCAGCCACTGAGATGGCAC -3'
(R):5'- ACACCTCCCAGCAAGTTCAGAGATA -3'

Sequencing Primer
(F):5'- CACTGAGATGGCACTGTGGG -3'
(R):5'- cataccttctaatccttcccaaac -3'

Posted On

2013-07-11