Mutagenetix > Incidental Mutation

Incidental Mutation 'R7384:Ano10'

572958

Institutional Source

Beutler Lab

Gene Symbol

Ano10

Ensembl Gene

ENSMUSG00000037949

Gene Name

anoctamin 10

Synonyms

Tmem16k

MMRRC Submission

045466-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R7384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122004940-122123489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122005409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 77 (D77V)

Ref Sequence

ENSEMBL: ENSMUSP00000149488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042546] [ENSMUST00000214409] [ENSMUST00000216738]

AlphaFold

Q8BH79

Predicted Effect

probably benign
Transcript: ENSMUST00000042546

SMART Domains

Protein: ENSMUSP00000045214
Gene: ENSMUSG00000037949

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	200	628	2.2e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214409

Predicted Effect

unknown
Transcript: ENSMUST00000216738
AA Change: D77V

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the anoctamin family, which in mammals is comprised of 10 members. Anoctamin proteins are proposed to have eight transmembrane domains with both termini facing the cytoplasm and a C-terminal domain of unknown function. While some members have been characterized as calcium-activated chloride channels, this protein is reported to inhibit anion conductance. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele fail to exhibit calcium-activated chloride ion secretion in the jejunum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,507,191 (GRCm39)	I65F	possibly damaging	Het
Abca13	C	A	11: 9,283,257 (GRCm39)	S3226R	probably damaging	Het
Abhd14b	A	G	9: 106,327,340 (GRCm39)	I41V	probably benign	Het
Acot2	T	C	12: 84,039,441 (GRCm39)	S317P	probably benign	Het
Acp7	T	C	7: 28,314,513 (GRCm39)	E284G	possibly damaging	Het
Adamts5	A	G	16: 85,696,714 (GRCm39)	F148L	probably benign	Het
Adcy10	C	T	1: 165,404,177 (GRCm39)	P1611S	unknown	Het
Agr2	A	G	12: 36,045,923 (GRCm39)	T57A	probably damaging	Het
Ankar	T	G	1: 72,697,624 (GRCm39)	I1060L	probably benign	Het
Anxa2r1	T	A	13: 120,496,797 (GRCm39)	Q24L	possibly damaging	Het
Apc2	G	A	10: 80,148,458 (GRCm39)	V1171I	probably damaging	Het
Apoa4	G	A	9: 46,152,772 (GRCm39)	R19Q	not run	Het
Arhgap33	A	G	7: 30,226,696 (GRCm39)	S504P	probably damaging	Het
Atg2a	T	C	19: 6,311,707 (GRCm39)	V1862A	probably damaging	Het
Atp7b	T	C	8: 22,512,331 (GRCm39)	S511G	probably benign	Het
Bcl10	A	G	3: 145,638,795 (GRCm39)	K146E	possibly damaging	Het
Bsg	A	T	10: 79,545,631 (GRCm39)	D181V	probably damaging	Het
Btg4	T	C	9: 51,030,413 (GRCm39)	V171A	probably benign	Het
Cdh8	A	C	8: 99,957,138 (GRCm39)	N188K	probably benign	Het
Cflar	C	A	1: 58,791,735 (GRCm39)	T346K		Het
Chrna5	T	C	9: 54,912,117 (GRCm39)	S306P	probably damaging	Het
Cldn20	G	A	17: 3,582,886 (GRCm39)	G20R	probably damaging	Het
Clns1a	G	A	7: 97,345,988 (GRCm39)	A18T	probably benign	Het
D130043K22Rik	A	G	13: 25,066,588 (GRCm39)	Y795C	probably damaging	Het
Dync1li2	A	C	8: 105,169,175 (GRCm39)	S38A	probably benign	Het
Dysf	A	G	6: 84,091,087 (GRCm39)	E1043G	probably benign	Het
Elapor1	A	T	3: 108,370,784 (GRCm39)		probably null	Het
Eral1	A	G	11: 77,964,927 (GRCm39)	I422T	possibly damaging	Het
Exoc3	G	A	13: 74,320,275 (GRCm39)	P729S	probably benign	Het
Eya1	T	A	1: 14,299,736 (GRCm39)	Y339F	probably damaging	Het
Faah	G	T	4: 115,862,364 (GRCm39)	N206K	probably damaging	Het
Fem1a	A	G	17: 56,564,537 (GRCm39)	E210G	probably benign	Het
Gcc2	T	A	10: 58,105,786 (GRCm39)	S341T	probably damaging	Het
Gfpt2	A	T	11: 49,701,817 (GRCm39)	I123F	possibly damaging	Het
Gm3047	T	A	14: 4,558,271 (GRCm38)	N164K	probably damaging	Het
Gm3327	A	G	14: 44,362,334 (GRCm39)	K78E		Het
Herpud1	A	G	8: 95,116,005 (GRCm39)	I57V	probably damaging	Het
Homer1	A	T	13: 93,529,547 (GRCm39)	R285S	possibly damaging	Het
Hps6	T	A	19: 45,992,456 (GRCm39)	V131E	possibly damaging	Het
Il1r1	T	A	1: 40,321,421 (GRCm39)	I11N	possibly damaging	Het
Jakmip1	T	A	5: 37,330,551 (GRCm39)	D410E	possibly damaging	Het
Kif3a	T	A	11: 53,469,681 (GRCm39)	F97L	probably damaging	Het
Klf11	C	T	12: 24,703,742 (GRCm39)	T76I	probably damaging	Het
Ldlr	A	C	9: 21,651,090 (GRCm39)	T503P	probably benign	Het
Mapk3	G	C	7: 126,363,463 (GRCm39)	R279P		Het
Mb21d2	A	T	16: 28,647,664 (GRCm39)	D103E	probably benign	Het
Msh4	T	A	3: 153,594,385 (GRCm39)	M333L	probably benign	Het
Mycbp2	A	G	14: 103,513,829 (GRCm39)	I836T	probably damaging	Het
Myh1	A	T	11: 67,115,201 (GRCm39)	E1912V	possibly damaging	Het
Ncapd2	A	G	6: 125,150,364 (GRCm39)	V887A	probably benign	Het
Nlrp4a	G	A	7: 26,148,963 (GRCm39)	R190Q	not run	Het
Nop53	T	C	7: 15,673,420 (GRCm39)	T344A	probably damaging	Het
Or2r3	A	T	6: 42,448,257 (GRCm39)	L285Q	possibly damaging	Het
Or5an11	T	C	19: 12,246,440 (GRCm39)	V282A	possibly damaging	Het
Or7h8	A	G	9: 20,124,041 (GRCm39)	Y132C	probably damaging	Het
Pcyox1l	A	C	18: 61,831,461 (GRCm39)	V266G	probably damaging	Het
Pde5a	A	G	3: 122,618,649 (GRCm39)	Y654C	probably damaging	Het
Polq	T	C	16: 36,849,780 (GRCm39)	S345P	probably damaging	Het
Polr1f	G	T	12: 33,483,631 (GRCm39)	G128W	probably damaging	Het
Prdm1	A	T	10: 44,334,503 (GRCm39)	C8S	probably benign	Het
Psg17	T	A	7: 18,552,585 (GRCm39)	Q230L	possibly damaging	Het
Rab11fip5	A	T	6: 85,325,312 (GRCm39)	S332T	possibly damaging	Het
Rac2	T	A	15: 78,446,131 (GRCm39)	K186*	probably null	Het
S100pbp	T	C	4: 129,075,702 (GRCm39)	N208D	probably benign	Het
Scaf11	A	T	15: 96,318,268 (GRCm39)	V432D	possibly damaging	Het
Skic3	A	C	13: 76,298,854 (GRCm39)	S1187R	possibly damaging	Het
Slc34a1	G	T	13: 55,550,747 (GRCm39)	C225F	probably benign	Het
Slc35e2	A	T	4: 155,695,089 (GRCm39)	M152L	probably benign	Het
Slc49a3	A	T	5: 108,593,926 (GRCm39)	I61K	probably damaging	Het
Slc9a4	T	A	1: 40,651,411 (GRCm39)	I563K	probably benign	Het
Sppl3	T	G	5: 115,199,700 (GRCm39)		probably null	Het
Stam	T	C	2: 14,139,241 (GRCm39)	F301L	probably benign	Het
Supt16	G	A	14: 52,418,619 (GRCm39)	R213W	probably damaging	Het
Tbc1d8	A	T	1: 39,433,179 (GRCm39)	D334E	probably benign	Het
Tmem87a	C	T	2: 120,202,004 (GRCm39)		probably null	Het
Tnk1	T	C	11: 69,742,447 (GRCm39)	Y661C	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Tnxb	A	G	17: 34,937,492 (GRCm39)	D2947G	probably damaging	Het
Traf4	A	G	11: 78,051,617 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,045,218 (GRCm39)	M490K	possibly damaging	Het
Trav12-1	A	G	14: 53,775,993 (GRCm39)	T49A	probably benign	Het
Ubap1l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	9: 65,279,032 (GRCm39)		probably benign	Het
Unc79	G	T	12: 103,137,837 (GRCm39)	V2485L	probably benign	Het
Ush2a	T	C	1: 188,132,360 (GRCm39)	S861P	probably damaging	Het
Vcam1	A	G	3: 115,910,877 (GRCm39)	V507A	possibly damaging	Het
Vmn1r218	A	G	13: 23,320,895 (GRCm39)	M81V	probably benign	Het
Zfp652	G	T	11: 95,643,830 (GRCm39)	V343L	probably damaging	Het

Other mutations in Ano10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Ano10	APN	9	122,090,422 (GRCm39)	missense	possibly damaging	0.96
IGL00886:Ano10	APN	9	122,100,390 (GRCm39)	missense	probably benign	0.01
IGL00932:Ano10	APN	9	122,080,297 (GRCm39)	nonsense	probably null
IGL01613:Ano10	APN	9	122,088,606 (GRCm39)	missense	possibly damaging	0.75
IGL02109:Ano10	APN	9	122,090,408 (GRCm39)	missense	probably damaging	1.00
IGL02397:Ano10	APN	9	122,090,458 (GRCm39)	missense	probably damaging	1.00
IGL02512:Ano10	APN	9	122,101,540 (GRCm39)	missense	possibly damaging	0.50
IGL03216:Ano10	APN	9	122,086,127 (GRCm39)	missense	probably damaging	1.00
arna	UTSW	9	122,088,630 (GRCm39)	missense	possibly damaging	0.77
R0624:Ano10	UTSW	9	122,088,661 (GRCm39)	splice site	probably benign
R1669:Ano10	UTSW	9	122,086,249 (GRCm39)	missense	possibly damaging	0.94
R1801:Ano10	UTSW	9	122,082,096 (GRCm39)	missense	probably damaging	1.00
R2511:Ano10	UTSW	9	122,088,011 (GRCm39)	missense	probably damaging	0.99
R3836:Ano10	UTSW	9	122,092,829 (GRCm39)	missense	possibly damaging	0.58
R4027:Ano10	UTSW	9	122,081,994 (GRCm39)	splice site	probably benign
R4151:Ano10	UTSW	9	122,090,601 (GRCm39)	nonsense	probably null
R4590:Ano10	UTSW	9	122,086,231 (GRCm39)	missense	probably benign	0.22
R4651:Ano10	UTSW	9	122,090,181 (GRCm39)	nonsense	probably null
R4652:Ano10	UTSW	9	122,090,181 (GRCm39)	nonsense	probably null
R4676:Ano10	UTSW	9	122,092,853 (GRCm39)	missense	probably damaging	0.98
R5026:Ano10	UTSW	9	122,101,625 (GRCm39)	nonsense	probably null
R5281:Ano10	UTSW	9	122,090,552 (GRCm39)	missense	probably damaging	1.00
R5401:Ano10	UTSW	9	122,090,356 (GRCm39)	missense	probably damaging	1.00
R6269:Ano10	UTSW	9	122,090,308 (GRCm39)	missense	probably damaging	0.99
R6449:Ano10	UTSW	9	122,030,754 (GRCm39)	intron	probably benign
R6702:Ano10	UTSW	9	122,088,630 (GRCm39)	missense	possibly damaging	0.77
R7010:Ano10	UTSW	9	122,082,190 (GRCm39)	missense	probably damaging	1.00
R7584:Ano10	UTSW	9	122,104,597 (GRCm39)	missense	probably benign
R8849:Ano10	UTSW	9	122,090,510 (GRCm39)	missense	probably benign	0.00
R8980:Ano10	UTSW	9	122,090,558 (GRCm39)	missense	probably benign	0.00
R9328:Ano10	UTSW	9	122,090,168 (GRCm39)	missense	possibly damaging	0.66
R9653:Ano10	UTSW	9	122,080,221 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATAACGTTCAAAGGCAGCTGAG -3'
(R):5'- GTACCACCCATAGACTCTCAGG -3'

Sequencing Primer
(F):5'- CTCCTGAGCAAAGTGATGAAAC -3'
(R):5'- CCATAGACTCTCAGGGTTCAC -3'

Posted On

2019-09-13