Mutagenetix > Incidental Mutations

Incidental Mutation 'H8786:Ano8'

44448

Institutional Source

Beutler Lab

Gene Symbol

Ano8

Ensembl Gene

ENSMUSG00000034863

Gene Name

anoctamin 8

Synonyms

Tmem16h

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

H8786 (G3) of strain 617

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71476019-71485963 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 71478744 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093450] [ENSMUST00000124745] [ENSMUST00000138892] [ENSMUST00000147642] [ENSMUST00000213382]

Predicted Effect

unknown
Transcript: ENSMUST00000093450
AA Change: Y875N

SMART Domains

Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: Y875N

Domain	Start	End	E-Value	Type
low complexity region	14	31	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
Pfam:Anoctamin	237	874	3e-149	PFAM
coiled coil region	881	919	N/A	INTRINSIC
low complexity region	948	964	N/A	INTRINSIC
low complexity region	974	988	N/A	INTRINSIC
low complexity region	1042	1056	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098645

Predicted Effect

probably benign
Transcript: ENSMUST00000124745

SMART Domains

Protein: ENSMUSP00000121042
Gene: ENSMUSG00000074247

Domain	Start	End	E-Value	Type
Pfam:DDA1	3	65	6e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135052

Predicted Effect

probably benign
Transcript: ENSMUST00000138892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146677

Predicted Effect

probably benign
Transcript: ENSMUST00000147642

SMART Domains

Protein: ENSMUSP00000123665
Gene: ENSMUSG00000074247

Domain	Start	End	E-Value	Type
Pfam:DDA1	3	52	1.2e-23	PFAM
low complexity region	84	98	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213016

Predicted Effect

unknown
Transcript: ENSMUST00000213382
AA Change: Y919N

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,494,094	Y363H	probably benign	Het
4933402N03Rik	T	A	7: 131,139,177	R103S	probably damaging	Het
Aars	A	G	8: 111,045,555	D459G	probably benign	Het
Adam25	A	T	8: 40,754,224	M176L	probably benign	Het
Adcy5	A	G	16: 35,267,181	I471V	probably damaging	Het
Arhgef28	T	A	13: 97,946,953	Q1136L	probably damaging	Het
Atp13a3	A	T	16: 30,359,725	C164*	probably null	Het
Avl9	G	A	6: 56,757,310	A625T	probably damaging	Het
Avpr1a	A	T	10: 122,449,468	M222L	probably benign	Het
B4galnt4	A	T	7: 141,071,322	M939L	probably damaging	Het
B4galt6	A	G	18: 20,688,944	F331S	probably benign	Het
C2cd2	G	T	16: 97,879,640	Q325K	possibly damaging	Het
Caml	T	G	13: 55,628,596	L216R	probably damaging	Het
Cd200r4	A	G	16: 44,833,373	T132A	possibly damaging	Het
Ces1h	A	C	8: 93,362,922	V283G	probably damaging	Het
Clptm1	A	T	7: 19,635,704	V427D	possibly damaging	Het
Drd1	T	A	13: 54,053,103	N357I	possibly damaging	Het
Foxq1	C	G	13: 31,559,458	S181W	probably damaging	Het
Gfra2	C	T	14: 70,978,378	T169M	possibly damaging	Het
Gm42542	T	C	6: 68,895,650		probably null	Het
Hoxa13	CGG	CGNGG	6: 52,260,636		probably null	Het
Hsd11b1	C	A	1: 193,240,252	A166S	probably benign	Het
Kcnab3	T	A	11: 69,328,267	F101L	probably damaging	Het
Klf6	C	A	13: 5,861,791	H51Q	probably damaging	Het
Krtap4-8	G	A	11: 99,780,072	P191L	unknown	Het
Lrrk2	T	A	15: 91,673,358	N26K	probably benign	Het
Mrgprd	T	C	7: 145,322,267	S292P	probably benign	Het
Ms4a8a	A	G	19: 11,076,361	I127T	possibly damaging	Het
Myo7a	T	G	7: 98,095,778	N280T	possibly damaging	Het
Nipal4	A	G	11: 46,150,477	F297S	probably damaging	Het
Npas1	A	G	7: 16,461,350	I351T	possibly damaging	Het
Olfr1245	C	A	2: 89,575,279	G149V	probably damaging	Het
Olfr311	A	T	11: 58,841,320	I69F	probably benign	Het
Olfr360	A	G	2: 37,068,329	E8G	probably benign	Het
Parp11	A	G	6: 127,471,635	T72A	probably damaging	Het
Pik3c3	T	C	18: 30,294,343	V300A	probably damaging	Het
Pik3cb	T	C	9: 99,046,559	E881G	possibly damaging	Het
Polr2h	T	A	16: 20,720,531	L57*	probably null	Het
Rela	T	A	19: 5,647,018	S418T	probably benign	Het
Rptn	A	G	3: 93,397,873	T838A	possibly damaging	Het
Sez6l2	T	A	7: 126,961,783	N413K	possibly damaging	Het
Slc6a2	A	G	8: 92,994,640	I466V	probably benign	Het
Slco4c1	A	T	1: 96,841,151	C329S	probably damaging	Het
Sppl2c	A	G	11: 104,186,865	M164V	probably benign	Het
Spta1	G	A	1: 174,179,839	V212M	probably damaging	Het
Sqor	A	C	2: 122,792,368	I142L	probably benign	Het
Suco	T	C	1: 161,852,851	E317G	probably damaging	Het
Tlk2	T	A	11: 105,254,979	I337N	possibly damaging	Het
Tln1	A	T	4: 43,544,589	N1113K	probably damaging	Het
Tmc2	A	G	2: 130,226,262	Y234C	probably damaging	Het
Tmem167	A	C	13: 90,098,466	K36N	probably damaging	Het
Trim72	T	C	7: 128,004,791	L103P	probably damaging	Het
Urb1	T	A	16: 90,769,469	M1477L	probably benign	Het
Vwa2	T	A	19: 56,909,732	M721K	possibly damaging	Het
Zcchc11	T	C	4: 108,550,815		probably null	Het
Zfp143	T	G	7: 110,094,368	D636E	probably damaging	Het

Other mutations in Ano8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Ano8	APN	8	71484258	splice site	probably benign
IGL00501:Ano8	APN	8	71479149	critical splice donor site	probably null
IGL01380:Ano8	APN	8	71480809	unclassified	probably benign
IGL02138:Ano8	APN	8	71484842	missense	probably damaging	0.99
IGL02516:Ano8	APN	8	71485077	missense	probably damaging	1.00
IGL02675:Ano8	APN	8	71483540	missense	probably damaging	0.99
IGL02995:Ano8	APN	8	71483117	missense	possibly damaging	0.72
R0265:Ano8	UTSW	8	71480524	unclassified	probably benign
R0282:Ano8	UTSW	8	71480614	unclassified	probably benign
R0518:Ano8	UTSW	8	71479258	missense	probably benign	0.39
R0521:Ano8	UTSW	8	71479258	missense	probably benign	0.39
R1028:Ano8	UTSW	8	71480971	small deletion	probably benign
R1147:Ano8	UTSW	8	71482017	missense	probably damaging	1.00
R1147:Ano8	UTSW	8	71482017	missense	probably damaging	1.00
R1748:Ano8	UTSW	8	71478958	unclassified	probably benign
R1852:Ano8	UTSW	8	71483487	missense	probably damaging	0.99
R4161:Ano8	UTSW	8	71482637	missense	probably damaging	1.00
R4192:Ano8	UTSW	8	71483292	missense	probably damaging	1.00
R4274:Ano8	UTSW	8	71478741	unclassified	probably benign
R4834:Ano8	UTSW	8	71484295	missense	probably damaging	1.00
R4961:Ano8	UTSW	8	71482996	missense	probably damaging	1.00
R5252:Ano8	UTSW	8	71482617	missense	probably damaging	1.00
R5553:Ano8	UTSW	8	71484997	splice site	probably null
R5598:Ano8	UTSW	8	71482577	missense	probably damaging	1.00
R5695:Ano8	UTSW	8	71483243	missense	probably damaging	0.98
R5994:Ano8	UTSW	8	71484834	missense	probably damaging	1.00
R6019:Ano8	UTSW	8	71482380	missense	probably damaging	1.00
R6153:Ano8	UTSW	8	71480797	unclassified	probably benign
R6405:Ano8	UTSW	8	71483030	missense	probably damaging	1.00
R6516:Ano8	UTSW	8	71481780	unclassified	probably null
R6539:Ano8	UTSW	8	71484483	missense	probably damaging	1.00
R7194:Ano8	UTSW	8	71482363	missense	possibly damaging	0.66
R7204:Ano8	UTSW	8	71479025	missense	probably benign	0.39
R7340:Ano8	UTSW	8	71483011	missense	probably damaging	0.99
R7365:Ano8	UTSW	8	71485110	missense	probably damaging	1.00
R7417:Ano8	UTSW	8	71480833	missense	unknown
R7486:Ano8	UTSW	8	71484998	critical splice donor site	probably null
R7644:Ano8	UTSW	8	71484830	missense	probably damaging	0.98
R7709:Ano8	UTSW	8	71482289	missense	probably damaging	1.00
R7719:Ano8	UTSW	8	71483140	missense	possibly damaging	0.82
R8040:Ano8	UTSW	8	71482168
X0026:Ano8	UTSW	8	71479157	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTAAGTGCAGAACCTGGGGATGG -3'
(R):5'- TCCGAAGTGATGCCTTCAAGCTC -3'

Sequencing Primer
(F):5'- ACCTGGGGATGGGGGTAG -3'
(R):5'- GTGGTAAACTGCTACCTCATTG -3'

Posted On

2013-06-11