Mutagenetix > Incidental Mutations

Incidental Mutation 'R7132:Ankrd12'

552779

Institutional Source

Beutler Lab

Gene Symbol

Ankrd12

Ensembl Gene

ENSMUSG00000034647

Gene Name

ankyrin repeat domain 12

Synonyms

2900001A12Rik, GAC-1, ANCO-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65967501-66077089 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65983247 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1730 (M1730I)

Ref Sequence

ENSEMBL: ENSMUSP00000039035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038116] [ENSMUST00000150766]

Predicted Effect

probably benign
Transcript: ENSMUST00000038116
AA Change: M1730I

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

SMART Domains

Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: M1730I

Domain	Start	End	E-Value	Type
low complexity region	102	119	N/A	INTRINSIC
ANK	184	213	8.78e-6	SMART
ANK	217	246	1.76e-5	SMART
ANK	250	279	7.64e-6	SMART
low complexity region	292	300	N/A	INTRINSIC
low complexity region	358	369	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC
coiled coil region	459	497	N/A	INTRINSIC
coiled coil region	639	676	N/A	INTRINSIC
coiled coil region	725	752	N/A	INTRINSIC
low complexity region	824	844	N/A	INTRINSIC
low complexity region	933	951	N/A	INTRINSIC
low complexity region	999	1018	N/A	INTRINSIC
low complexity region	1079	1090	N/A	INTRINSIC
low complexity region	1182	1197	N/A	INTRINSIC
low complexity region	1771	1783	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150766

SMART Domains

Protein: ENSMUSP00000114237
Gene: ENSMUSG00000034647

Domain	Start	End	E-Value	Type
low complexity region	78	98	N/A	INTRINSIC
ANK	161	190	8.78e-6	SMART
ANK	194	223	1.76e-5	SMART
ANK	227	256	7.64e-6	SMART
low complexity region	269	277	N/A	INTRINSIC
low complexity region	335	346	N/A	INTRINSIC
low complexity region	380	393	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,989,914	A1471V		Het
Ap2a2	T	C	7: 141,619,565	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,569,384	Y277*	probably null	Het
App	T	C	16: 85,056,482	D236G	unknown	Het
Arid2	A	T	15: 96,350,013	K102I	possibly damaging	Het
Asl	A	G	5: 130,014,702	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cbx2	A	G	11: 119,023,121	S5G	probably benign	Het
Ccdc183	A	G	2: 25,616,530		probably null	Het
Cd72	T	C	4: 43,452,444	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,486,762	D702E	possibly damaging	Het
Cfap61	A	T	2: 146,109,950	N784I	probably damaging	Het
Cgrrf1	G	A	14: 46,853,864	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cobll1	T	G	2: 65,133,768	K170Q	probably damaging	Het
Copg2	A	T	6: 30,815,996	V468D	probably benign	Het
Cracr2b	C	T	7: 141,463,738	A84V	probably benign	Het
Cyp2f2	A	T	7: 27,132,568	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391	F75S	probably benign	Het
Eml3	G	T	19: 8,941,028	A829S	probably benign	Het
Entpd3	A	G	9: 120,561,020	T402A	probably benign	Het
Fer1l4	A	T	2: 156,045,626	V550E	probably damaging	Het
Fgb	G	A	3: 83,046,746	R62*	probably null	Het
Fubp1	T	A	3: 152,232,024		probably null	Het
Gdf3	A	C	6: 122,606,324	D361E	probably damaging	Het
Gm6685	A	T	11: 28,339,330	I162N	probably damaging	Het
Hmx2	A	G	7: 131,555,916	Y253C	probably damaging	Het
Ints2	G	T	11: 86,217,754	N922K	probably benign	Het
Ipo7	C	T	7: 110,054,047	L984F	probably benign	Het
Itgae	A	T	11: 73,111,358	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,256,227	V697A	unknown	Het
Kctd18	G	A	1: 57,967,578	R38*	probably null	Het
Kdm5b	A	G	1: 134,599,106	D322G	probably damaging	Het
Ldb3	A	G	14: 34,577,035	Y211H	probably benign	Het
Limch1	T	C	5: 66,953,685	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,879,693	L68*	probably null	Het
Lrwd1	A	G	5: 136,123,275	V616A	possibly damaging	Het
Nars	A	G	18: 64,507,770		probably null	Het
Nradd	T	C	9: 110,622,261	D13G	probably benign	Het
Oacyl	A	T	18: 65,698,409	N39I	probably damaging	Het
Olfr1499	T	A	19: 13,815,422	Q56L	probably benign	Het
Onecut2	A	T	18: 64,340,912	H178L	possibly damaging	Het
Pcdhga4	A	C	18: 37,687,377	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitpnm3	T	A	11: 72,051,276	I902F	possibly damaging	Het
Plod3	T	C	5: 136,995,117	L180S		Het
Prrc2c	A	T	1: 162,681,281	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,322,066	E58G	probably benign	Het
Rev1	G	T	1: 38,071,449	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,715,136	L696*	probably null	Het
Serpinb3c	A	G	1: 107,276,951	S22P	probably damaging	Het
St18	A	T	1: 6,859,127	H81L		Het
Stard9	A	T	2: 120,679,378	K266*	probably null	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,344,952	T381I	probably benign	Het
Tecpr2	T	A	12: 110,915,372	V125D	probably damaging	Het
Tmc2	T	C	2: 130,232,409	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,784,225	V143I	probably benign	Het
Trap1	A	G	16: 4,055,829	Y288H	probably benign	Het
Trim39	T	C	17: 36,260,655	T404A	probably benign	Het
Ttn	T	A	2: 76,745,699	K24950I	probably damaging	Het
Ttn	G	T	2: 76,944,352	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,949,468	I471N	probably damaging	Het
Wbp11	T	C	6: 136,821,542	T170A	probably benign	Het
Wnk4	A	G	11: 101,261,200	I177V	probably benign	Het
Zfp455	C	A	13: 67,199,166	P51T	probably damaging	Het
Zfp946	T	C	17: 22,454,663	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,241,615	Y514*	probably null	Het
Zzef1	T	C	11: 72,917,871		probably null	Het

Other mutations in Ankrd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Ankrd12	APN	17	65986174	missense	probably benign
IGL00555:Ankrd12	APN	17	65984976	missense	probably benign	0.09
IGL00790:Ankrd12	APN	17	65984180	missense	probably benign
IGL00808:Ankrd12	APN	17	65983965	missense	probably benign	0.03
IGL01355:Ankrd12	APN	17	65970340	splice site	probably benign
IGL01707:Ankrd12	APN	17	65984278	missense	probably damaging	0.98
IGL02045:Ankrd12	APN	17	65986249	missense	probably benign	0.17
IGL02125:Ankrd12	APN	17	65970144	utr 3 prime	probably benign
IGL02292:Ankrd12	APN	17	66042587	missense	probably damaging	0.99
IGL02376:Ankrd12	APN	17	66042529	intron	probably benign
IGL02435:Ankrd12	APN	17	65987156	missense	probably damaging	1.00
IGL02530:Ankrd12	APN	17	65984403	missense	probably benign	0.20
R0048:Ankrd12	UTSW	17	65984803	missense	probably damaging	1.00
R0048:Ankrd12	UTSW	17	65984803	missense	probably damaging	1.00
R0094:Ankrd12	UTSW	17	65970176	missense	probably damaging	1.00
R0195:Ankrd12	UTSW	17	66049948	splice site	probably null
R0227:Ankrd12	UTSW	17	65987227	missense	probably benign	0.00
R0363:Ankrd12	UTSW	17	65985681	missense	probably damaging	1.00
R0366:Ankrd12	UTSW	17	65984506	missense	possibly damaging	0.93
R0376:Ankrd12	UTSW	17	66053009	missense	probably damaging	0.98
R0470:Ankrd12	UTSW	17	65986134	missense	probably benign	0.00
R0480:Ankrd12	UTSW	17	66049828	missense	possibly damaging	0.47
R0538:Ankrd12	UTSW	17	66049852	missense	probably damaging	1.00
R0883:Ankrd12	UTSW	17	65985132	missense	probably benign	0.19
R1181:Ankrd12	UTSW	17	66042574	missense	probably benign	0.36
R1386:Ankrd12	UTSW	17	65983380	missense	possibly damaging	0.94
R1476:Ankrd12	UTSW	17	65986305	missense	probably damaging	0.99
R1574:Ankrd12	UTSW	17	65986274	missense	probably benign	0.08
R1574:Ankrd12	UTSW	17	65986274	missense	probably benign	0.08
R1602:Ankrd12	UTSW	17	65983688	nonsense	probably null
R1728:Ankrd12	UTSW	17	65984076	missense	probably benign	0.01
R1729:Ankrd12	UTSW	17	65984076	missense	probably benign	0.01
R1784:Ankrd12	UTSW	17	65984076	missense	probably benign	0.01
R1795:Ankrd12	UTSW	17	65986227	missense	possibly damaging	0.89
R1901:Ankrd12	UTSW	17	65986703	missense	possibly damaging	0.58
R1929:Ankrd12	UTSW	17	65986686	missense	possibly damaging	0.55
R1952:Ankrd12	UTSW	17	66031571	missense	probably damaging	0.98
R1997:Ankrd12	UTSW	17	65984884	missense	probably damaging	1.00
R2207:Ankrd12	UTSW	17	66031574	splice site	probably null
R3612:Ankrd12	UTSW	17	65983547	missense	probably benign	0.01
R3768:Ankrd12	UTSW	17	65985720	missense	probably benign
R3909:Ankrd12	UTSW	17	65984005	missense	probably benign	0.05
R3945:Ankrd12	UTSW	17	65976103	missense	probably damaging	1.00
R4176:Ankrd12	UTSW	17	66027366	missense	probably damaging	1.00
R4461:Ankrd12	UTSW	17	65985937	unclassified	probably null
R4628:Ankrd12	UTSW	17	65985994	missense	probably benign
R4726:Ankrd12	UTSW	17	65970324	missense	probably damaging	1.00
R4785:Ankrd12	UTSW	17	65982999	missense	probably damaging	1.00
R4828:Ankrd12	UTSW	17	65984637	missense	probably damaging	0.99
R4847:Ankrd12	UTSW	17	66024092	missense	probably benign	0.14
R4858:Ankrd12	UTSW	17	66031433	missense	probably damaging	1.00
R5344:Ankrd12	UTSW	17	66049848	missense	probably damaging	1.00
R5749:Ankrd12	UTSW	17	65986096	missense	probably benign	0.02
R7205:Ankrd12	UTSW	17	65985165	missense	probably damaging	1.00
R7379:Ankrd12	UTSW	17	65985247	nonsense	probably null
R7569:Ankrd12	UTSW	17	65982905	missense	probably damaging	1.00
R7570:Ankrd12	UTSW	17	65985360	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGGCTGCTAGAGACTGCTG -3'
(R):5'- CACTGAAGATGAAGAATCTCAGCAG -3'

Sequencing Primer
(F):5'- AGAGACTGCTGAGTTTTCTCC -3'
(R):5'- CAGCAGAGCACCTTATCAAGTGTG -3'

Posted On

2019-05-15