Mutagenetix > Incidental Mutation

Incidental Mutation 'R4735:Ano7'

356412

Institutional Source

Beutler Lab

Gene Symbol

Ano7

Ensembl Gene

ENSMUSG00000034107

Gene Name

anoctamin 7

Synonyms

NGEP-L, Tmem16g, NGEP, IPCA-5, Pcanap5

MMRRC Submission

041962-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93301652-93332025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93328216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 622 (T622K)

Ref Sequence

ENSEMBL: ENSMUSP00000140438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058682] [ENSMUST00000186641]

AlphaFold

Q14AT5

Predicted Effect

probably benign
Transcript: ENSMUST00000058682
AA Change: T622K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050495
Gene: ENSMUSG00000034107
AA Change: T622K

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	49	274	2.2e-63	PFAM
Pfam:Anoctamin	277	824	3.4e-146	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186641
AA Change: T622K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140438
Gene: ENSMUSG00000034107
AA Change: T622K

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	277	825	6.6e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190340

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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 have little anion conductance activity. In humans, this protein is primarily found in prostate tissues and may serve as a target for prostate cancer immunotherapy. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Dec 2012]

Allele List at MGI

Other mutations in this stock

Total: 133 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,262,897 (GRCm39)	I1410N	possibly damaging	Het
9230106D20Rik	T	C	10: 19,536,001 (GRCm39)		noncoding transcript	Het
Acsf3	T	A	8: 123,508,218 (GRCm39)	I238N	probably damaging	Het
Ahctf1	T	C	1: 179,580,964 (GRCm39)	N1746S	probably benign	Het
Akap3	T	C	6: 126,842,601 (GRCm39)	S407P	probably damaging	Het
Ankfy1	T	A	11: 72,621,437 (GRCm39)	M241K	probably benign	Het
App	T	C	16: 84,900,202 (GRCm39)	T83A	probably damaging	Het
Arhgef28	T	A	13: 98,036,237 (GRCm39)	E1674V	probably damaging	Het
Asb2	C	A	12: 103,291,317 (GRCm39)	V489L	probably benign	Het
Atrn	T	C	2: 130,862,910 (GRCm39)	V1330A	probably benign	Het
Bltp1	T	A	3: 37,059,116 (GRCm39)	N3267K	possibly damaging	Het
Brca1	A	G	11: 101,383,001 (GRCm39)		probably null	Het
Bspry	G	A	4: 62,404,762 (GRCm39)	R186Q	probably damaging	Het
Ccdc168	A	G	1: 44,100,861 (GRCm39)	I79T	probably benign	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Celsr1	T	A	15: 85,790,230 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,369,384 (GRCm39)	V116A	possibly damaging	Het
Crb3	A	G	17: 57,372,207 (GRCm39)	T85A	probably damaging	Het
Cyld	T	C	8: 89,456,278 (GRCm39)	S443P	probably damaging	Het
Cyp27a1	T	G	1: 74,776,366 (GRCm39)	V434G	possibly damaging	Het
Cyp2b13	A	G	7: 25,787,720 (GRCm39)	T339A	probably benign	Het
Dars1	A	T	1: 128,303,971 (GRCm39)	L252*	probably null	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Ddx55	T	C	5: 124,704,539 (GRCm39)	F382S	probably damaging	Het
Dmtf1l	T	A	X: 125,722,217 (GRCm39)	K296M	probably damaging	Het
Dnah7b	G	A	1: 46,106,115 (GRCm39)	R33Q	unknown	Het
Dnm2	G	T	9: 21,385,883 (GRCm39)	S302I	probably damaging	Het
Dock4	T	A	12: 40,681,525 (GRCm39)	F75I	probably benign	Het
Dpp10	T	C	1: 123,326,356 (GRCm39)	N365S	probably benign	Het
Dpy19l3	G	T	7: 35,422,146 (GRCm39)	Q236K	probably benign	Het
Dsp	T	C	13: 38,380,016 (GRCm39)	S1655P	probably damaging	Het
Ebpl	A	T	14: 61,579,567 (GRCm39)	I117N	probably damaging	Het
Edc4	T	A	8: 106,613,818 (GRCm39)	V386E	probably damaging	Het
Eif2s2	T	A	2: 154,720,467 (GRCm39)		probably null	Het
Elob	A	T	17: 24,046,562 (GRCm39)		probably null	Het
Enox2	T	C	X: 48,158,554 (GRCm39)	I71V	probably damaging	Het
Fez1	A	T	9: 36,772,141 (GRCm39)	K149*	probably null	Het
Fhip2a	A	G	19: 57,359,661 (GRCm39)	E67G	probably damaging	Het
Fign	A	G	2: 63,810,782 (GRCm39)	Y163H	probably damaging	Het
Flnc	G	A	6: 29,455,812 (GRCm39)	G2048S	probably damaging	Het
Fras1	A	G	5: 96,736,022 (GRCm39)	D539G	probably benign	Het
Frmd4b	T	C	6: 97,436,220 (GRCm39)		probably benign	Het
Gan	C	T	8: 117,920,970 (GRCm39)	T402M	probably damaging	Het
Ganc	T	A	2: 120,267,104 (GRCm39)		silent	Het
Ggt6	C	A	11: 72,327,425 (GRCm39)	R103S	probably benign	Het
Gli2	T	C	1: 118,768,052 (GRCm39)	D725G	probably damaging	Het
Gm15446	T	A	5: 110,090,818 (GRCm39)	C357S	probably damaging	Het
Gm44501	A	G	17: 40,889,810 (GRCm39)	N108S	probably benign	Het
Gm6309	A	T	5: 146,105,054 (GRCm39)	D286E	probably damaging	Het
Gm6358	G	A	16: 88,937,848 (GRCm39)	G29E	unknown	Het
Grik5	A	G	7: 24,757,713 (GRCm39)	I422T	probably damaging	Het
Grin2c	A	G	11: 115,140,422 (GRCm39)	I1232T	possibly damaging	Het
Gsg1	C	T	6: 135,214,405 (GRCm39)	R365H	possibly damaging	Het
H2-M2	A	G	17: 37,794,135 (GRCm39)	S30P	possibly damaging	Het
Hcfc2	A	G	10: 82,547,914 (GRCm39)	D302G	probably damaging	Het
Hk2	T	C	6: 82,721,955 (GRCm39)	D128G	probably benign	Het
Hmcn2	C	A	2: 31,273,787 (GRCm39)	Q1380K	probably benign	Het
Hsp90b1	G	T	10: 86,529,819 (GRCm39)	P617T	probably damaging	Het
Htr1d	A	G	4: 136,170,197 (GRCm39)	E142G	probably benign	Het
Hydin	G	A	8: 111,282,264 (GRCm39)		probably null	Het
Il1r1	T	A	1: 40,332,455 (GRCm39)	N81K	probably benign	Het
Inpp5b	T	C	4: 124,677,760 (GRCm39)	S407P	probably damaging	Het
Itpkb	T	C	1: 180,245,780 (GRCm39)	Y766H	probably damaging	Het
Lyrm2	T	A	4: 32,801,150 (GRCm39)	I65N	probably damaging	Het
Mink1	T	A	11: 70,500,086 (GRCm39)		probably null	Het
Mkrn3	C	T	7: 62,069,452 (GRCm39)	R113H	probably damaging	Het
Msx3	G	A	7: 139,627,798 (GRCm39)	A157V	probably damaging	Het
Nrxn2	T	G	19: 6,548,484 (GRCm39)	V59G	possibly damaging	Het
Nt5c3b	T	C	11: 100,331,732 (GRCm39)	T12A	probably benign	Het
Nwd2	G	A	5: 63,965,594 (GRCm39)	R1726Q	probably benign	Het
Nynrin	A	G	14: 56,107,625 (GRCm39)	T911A	probably benign	Het
Or11i1	T	A	3: 106,728,996 (GRCm39)	Y293F	probably damaging	Het
Or4p18	T	C	2: 88,233,267 (GRCm39)	T4A	probably benign	Het
Or51aa5	A	G	7: 103,167,030 (GRCm39)	I187T	possibly damaging	Het
Or51af1	C	T	7: 103,141,267 (GRCm39)	V273M	possibly damaging	Het
Or52n20	C	T	7: 104,320,200 (GRCm39)	T97I	probably benign	Het
Or5p66	A	G	7: 107,885,520 (GRCm39)	M271T	probably benign	Het
Or6c212	A	G	10: 129,558,792 (GRCm39)	I207T	probably benign	Het
Patl1	G	T	19: 11,899,869 (GRCm39)	M220I	probably benign	Het
Pcnx2	A	T	8: 126,554,780 (GRCm39)		probably null	Het
Pigr	A	T	1: 130,774,291 (GRCm39)	T424S	probably damaging	Het
Pik3c2b	T	A	1: 132,994,787 (GRCm39)	D250E	probably benign	Het
Ppa2	G	A	3: 133,076,186 (GRCm39)	E272K	probably benign	Het
Pramel7	G	A	2: 87,321,187 (GRCm39)	Q283*	probably null	Het
Prelid3b	A	G	2: 174,307,683 (GRCm39)	I81T	probably benign	Het
Prpf38a	T	C	4: 108,436,242 (GRCm39)	I24V	possibly damaging	Het
Ptger2	A	G	14: 45,239,295 (GRCm39)	D311G	possibly damaging	Het
Rab4b	A	T	7: 26,872,191 (GRCm39)		probably benign	Het
Rad17	A	C	13: 100,755,637 (GRCm39)	D581E	probably damaging	Het
Samd11	T	C	4: 156,333,230 (GRCm39)	T333A	probably benign	Het
Scaf4	C	T	16: 90,049,320 (GRCm39)	D256N	unknown	Het
Serinc2	A	G	4: 130,157,438 (GRCm39)	F82L	probably benign	Het
Serpina3g	T	A	12: 104,205,372 (GRCm39)	V37E	probably damaging	Het
Serpinb9c	T	A	13: 33,334,254 (GRCm39)	M263L	probably benign	Het
Shbg	A	G	11: 69,508,326 (GRCm39)	I67T	possibly damaging	Het
Slc25a48	G	A	13: 56,596,887 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 109,005,923 (GRCm39)	W144R	probably damaging	Het
Slc34a1	A	T	13: 55,561,397 (GRCm39)	T621S	probably benign	Het
Slc6a18	A	T	13: 73,814,554 (GRCm39)	C419S	probably benign	Het
Smc5	A	T	19: 23,220,069 (GRCm39)	D389E	probably benign	Het
Smco3	T	A	6: 136,808,636 (GRCm39)	E79D	probably damaging	Het
Sox5	A	G	6: 143,906,561 (GRCm39)	F298S	probably damaging	Het
Sphkap	A	G	1: 83,256,838 (GRCm39)	S304P	probably benign	Het
Tcea2	C	T	2: 181,328,514 (GRCm39)	T211I	probably damaging	Het
Tcf4	G	T	18: 69,697,226 (GRCm39)	S34I	possibly damaging	Het
Tlr4	C	T	4: 66,759,435 (GRCm39)	R743C	probably damaging	Het
Tmem183a	T	C	1: 134,288,620 (GRCm39)	E67G	probably damaging	Het
Tpr	C	T	1: 150,317,947 (GRCm39)	R2152C	possibly damaging	Het
Trbv15	T	C	6: 41,118,358 (GRCm39)	I38T	probably benign	Het
Treh	G	A	9: 44,592,849 (GRCm39)	A125T	probably damaging	Het
Trio	A	T	15: 27,752,875 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,782,293 (GRCm39)	V981A	probably damaging	Het
Uap1l1	A	G	2: 25,252,732 (GRCm39)	L436P	probably damaging	Het
Uba7	A	T	9: 107,854,115 (GRCm39)	I182F	possibly damaging	Het
Unc13c	A	T	9: 73,600,620 (GRCm39)	S1375T	probably benign	Het
Usp48	C	CT	4: 137,360,680 (GRCm39)		probably null	Het
Utp20	A	C	10: 88,652,780 (GRCm39)	V378G	possibly damaging	Het
Vmn1r69	A	T	7: 10,314,926 (GRCm39)		probably benign	Het
Vmn1r86	A	T	7: 12,836,221 (GRCm39)	H218Q	probably damaging	Het
Vmn2r121	T	A	X: 123,038,335 (GRCm39)	I562L	probably benign	Het
Vmn2r45	A	T	7: 8,486,472 (GRCm39)	I272N	probably damaging	Het
Wdr90	A	G	17: 26,078,424 (GRCm39)	V320A	probably benign	Het
Wfikkn1	A	G	17: 26,097,367 (GRCm39)	V319A	possibly damaging	Het
Whamm	A	G	7: 81,221,122 (GRCm39)	D18G	probably benign	Het
Wrn	T	A	8: 33,775,250 (GRCm39)	I605F	probably damaging	Het
Zdhhc18	A	G	4: 133,341,178 (GRCm39)	F232L	probably damaging	Het
Zfp41	T	C	15: 75,490,609 (GRCm39)	I187T	probably benign	Het
Zfp418	A	G	7: 7,185,561 (GRCm39)	Y508C	probably damaging	Het
Zfp560	T	G	9: 20,260,347 (GRCm39)	I172L	probably benign	Het
Zfp943	A	T	17: 22,211,391 (GRCm39)	D159V	probably benign	Het
Zfp955a	T	C	17: 33,460,696 (GRCm39)	I479V	probably benign	Het
Zfpm1	T	A	8: 123,062,219 (GRCm39)	V426D	probably benign	Het
Zic1	C	T	9: 91,246,558 (GRCm39)	M171I	possibly damaging	Het

Other mutations in Ano7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ano7	APN	1	93,329,888 (GRCm39)	missense	probably benign	0.04
IGL00838:Ano7	APN	1	93,330,479 (GRCm39)	missense	possibly damaging	0.91
IGL01295:Ano7	APN	1	93,308,200 (GRCm39)	missense	probably benign	0.00
IGL01322:Ano7	APN	1	93,323,230 (GRCm39)	missense	probably benign	0.08
IGL01807:Ano7	APN	1	93,330,418 (GRCm39)	missense	possibly damaging	0.66
IGL01859:Ano7	APN	1	93,322,168 (GRCm39)	missense	probably damaging	1.00
IGL02349:Ano7	APN	1	93,319,212 (GRCm39)	missense	probably benign	0.02
IGL02976:Ano7	APN	1	93,330,395 (GRCm39)	missense	possibly damaging	0.78
R0360:Ano7	UTSW	1	93,316,380 (GRCm39)	missense	probably benign	0.01
R0364:Ano7	UTSW	1	93,316,380 (GRCm39)	missense	probably benign	0.01
R0528:Ano7	UTSW	1	93,323,224 (GRCm39)	missense	probably null	1.00
R0741:Ano7	UTSW	1	93,329,309 (GRCm39)	missense	probably damaging	0.97
R1131:Ano7	UTSW	1	93,329,498 (GRCm39)	missense	probably benign	0.24
R1156:Ano7	UTSW	1	93,329,574 (GRCm39)	splice site	probably null
R1500:Ano7	UTSW	1	93,325,050 (GRCm39)	missense	probably damaging	1.00
R1710:Ano7	UTSW	1	93,313,346 (GRCm39)	missense	probably benign	0.00
R2002:Ano7	UTSW	1	93,328,303 (GRCm39)	unclassified	probably benign
R2062:Ano7	UTSW	1	93,318,035 (GRCm39)	missense	probably benign
R2120:Ano7	UTSW	1	93,329,855 (GRCm39)	splice site	probably benign
R2200:Ano7	UTSW	1	93,308,158 (GRCm39)	missense	possibly damaging	0.93
R2268:Ano7	UTSW	1	93,308,161 (GRCm39)	missense	possibly damaging	0.51
R2763:Ano7	UTSW	1	93,326,908 (GRCm39)	splice site	probably null
R4202:Ano7	UTSW	1	93,308,200 (GRCm39)	missense	probably benign	0.00
R4204:Ano7	UTSW	1	93,308,200 (GRCm39)	missense	probably benign	0.00
R4205:Ano7	UTSW	1	93,308,200 (GRCm39)	missense	probably benign	0.00
R4453:Ano7	UTSW	1	93,322,075 (GRCm39)	missense	probably damaging	1.00
R4627:Ano7	UTSW	1	93,302,907 (GRCm39)	missense	probably benign	0.15
R4809:Ano7	UTSW	1	93,322,288 (GRCm39)	missense	probably benign	0.20
R4935:Ano7	UTSW	1	93,323,036 (GRCm39)	missense	possibly damaging	0.48
R4970:Ano7	UTSW	1	93,325,085 (GRCm39)	missense	possibly damaging	0.77
R5112:Ano7	UTSW	1	93,325,085 (GRCm39)	missense	possibly damaging	0.77
R5249:Ano7	UTSW	1	93,302,918 (GRCm39)	missense	probably benign
R5813:Ano7	UTSW	1	93,312,641 (GRCm39)	critical splice donor site	probably null
R6181:Ano7	UTSW	1	93,323,081 (GRCm39)	missense	probably damaging	1.00
R7106:Ano7	UTSW	1	93,302,705 (GRCm39)	splice site	probably null
R7113:Ano7	UTSW	1	93,313,342 (GRCm39)	missense	probably benign	0.10
R7199:Ano7	UTSW	1	93,330,700 (GRCm39)	missense
R7218:Ano7	UTSW	1	93,308,191 (GRCm39)	missense	probably benign	0.01
R7381:Ano7	UTSW	1	93,323,057 (GRCm39)	missense	probably benign
R7722:Ano7	UTSW	1	93,318,145 (GRCm39)	missense	probably damaging	0.99
R7832:Ano7	UTSW	1	93,322,195 (GRCm39)	missense	probably benign	0.06
R8700:Ano7	UTSW	1	93,316,329 (GRCm39)	missense	probably damaging	1.00
R9729:Ano7	UTSW	1	93,322,180 (GRCm39)	missense	probably damaging	1.00
Z1176:Ano7	UTSW	1	93,322,187 (GRCm39)	missense	probably benign	0.26
Z1177:Ano7	UTSW	1	93,329,249 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAACAACTACAGCCCCTTG -3'
(R):5'- ATTTCCCTAATGCACAGCCTCAG -3'

Sequencing Primer
(F):5'- AACTACAGCCCCTTGCCCTG -3'
(R):5'- TTCTCAGGATATCTGCAAGCCTAAC -3'

Posted On

2015-11-11