Mutagenetix > Incidental Mutation

Incidental Mutation 'R4785:Ankrd12'

367036

Institutional Source

Beutler Lab

Gene Symbol

Ankrd12

Ensembl Gene

ENSMUSG00000034647

Gene Name

ankyrin repeat domain 12

Synonyms

2900001A12Rik, GAC-1, ANCO-2

MMRRC Submission

042417-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.351) question?

Stock #

R4785 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65967501-66077089 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65982999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1813 (N1813I)

Ref Sequence

ENSEMBL: ENSMUSP00000039035 (fasta)

Gene Model

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

AlphaFold

G5E893

Predicted Effect

probably damaging
Transcript: ENSMUST00000038116
AA Change: N1813I

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

SMART Domains

Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: N1813I

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

noncoding transcript
Transcript: ENSMUST00000146090

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 145 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	C	13: 59,691,592	D13G	probably benign	Het
4930442H23Rik	C	T	10: 81,183,144		probably benign	Het
5330417C22Rik	A	T	3: 108,458,227		probably benign	Het
Adamts13	T	A	2: 26,983,042	S341T	probably damaging	Het
Adamts2	A	G	11: 50,792,722	I944V	probably benign	Het
Adcy3	A	G	12: 4,206,542	T783A	probably benign	Het
Ago3	A	T	4: 126,368,503	M418K	probably benign	Het
Alpk1	G	T	3: 127,687,592	N175K	possibly damaging	Het
Als2	A	G	1: 59,215,313	V295A	probably benign	Het
Anapc13	T	C	9: 102,629,821	I11T	probably benign	Het
Anks1b	A	T	10: 90,914,750	I176F	probably null	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,712,778		probably null	Het
Arhgap32	A	G	9: 32,129,653	D67G	probably damaging	Het
Arhgap32	T	C	9: 32,260,780	C1619R	probably damaging	Het
Atp1a4	A	T	1: 172,254,110	Y158*	probably null	Het
Atp8b5	A	T	4: 43,356,980	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,629,158	I122V	probably damaging	Het
B430203G13Rik	A	T	12: 17,924,519		noncoding transcript	Het
Baz1b	T	G	5: 135,217,413	L572R	possibly damaging	Het
Ccnd2	T	C	6: 127,148,798	T92A	possibly damaging	Het
Ccndbp1	A	T	2: 121,008,522	T5S	probably benign	Het
Ccr2	G	A	9: 124,106,372	V230I	probably benign	Het
Cct4	T	A	11: 23,002,866	V514E	probably damaging	Het
Cep152	A	G	2: 125,586,329		probably null	Het
Cflar	C	T	1: 58,752,567	T343M	probably benign	Het
Chrm5	A	C	2: 112,479,585	N395K	probably benign	Het
Chrna10	G	A	7: 102,113,219	P255S	possibly damaging	Het
Chrna6	T	A	8: 27,407,106	I248F	probably damaging	Het
Clip1	T	C	5: 123,579,293	D1387G	probably damaging	Het
Clstn3	T	C	6: 124,437,372		probably null	Het
Cntnap5a	C	T	1: 116,101,565	R250W	probably benign	Het
Col12a1	C	A	9: 79,678,494	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,513,341	T340A	probably benign	Het
Cyp2a4	G	A	7: 26,312,875	R361K	probably damaging	Het
Dnah1	T	A	14: 31,263,479	K3818N	probably damaging	Het
Dnah3	T	A	7: 119,967,824	K2393M	probably benign	Het
Dpy19l1	A	T	9: 24,424,823	L529Q	probably damaging	Het
Eif4g2	C	T	7: 111,076,796	R399H	probably damaging	Het
Fam160a1	G	T	3: 85,688,570	T115K	probably damaging	Het
Fam76a	A	T	4: 132,902,117		probably null	Het
Fam76a	A	G	4: 132,916,190	Y78H	probably damaging	Het
Fbn1	A	T	2: 125,324,919	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,969,041	T312A	probably benign	Het
Fbxw26	A	G	9: 109,724,800	V257A	possibly damaging	Het
Flnb	A	T	14: 7,905,701	E1150D	probably benign	Het
Fndc3c1	A	T	X: 106,437,702	S661R	possibly damaging	Het
Gba2	A	C	4: 43,568,315	L684R	probably damaging	Het
Gbf1	G	T	19: 46,268,395	C812F	possibly damaging	Het
Glt8d2	A	T	10: 82,660,749	D158E	probably damaging	Het
Golga2	T	A	2: 32,297,156	N89K	probably damaging	Het
Got1	A	G	19: 43,502,937	I358T	possibly damaging	Het
Gpx6	C	T	13: 21,312,264	Q3*	probably null	Het
Grin1	T	A	2: 25,292,381	H956L	possibly damaging	Het
Grin2d	A	G	7: 45,856,781	V562A	probably damaging	Het
Grm6	A	G	11: 50,857,277	I405V	probably benign	Het
Hcar2	C	G	5: 123,864,450	G330A	probably benign	Het
Hcfc1	T	C	X: 73,965,946	K20E	probably damaging	Het
Iars	T	A	13: 49,724,663	Y888N	probably damaging	Het
Ifi206	A	T	1: 173,480,866	H521Q	probably benign	Het
Impg1	A	G	9: 80,398,450	S112P	probably benign	Het
Incenp	C	A	19: 9,877,690	R619M	unknown	Het
Incenp	T	A	19: 9,877,691	R619W	unknown	Het
Kat2b	A	G	17: 53,653,203	E513G	possibly damaging	Het
Kbtbd12	G	T	6: 88,618,021	L276I	probably damaging	Het
Kctd9	T	A	14: 67,734,164	D229E	probably damaging	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Kif2b	G	A	11: 91,576,428	P343L	probably benign	Het
Kntc1	T	G	5: 123,816,762	M2081R	possibly damaging	Het
Lamc1	T	C	1: 153,231,740	N1231S	probably damaging	Het
Lclat1	T	A	17: 73,240,070	Y327*	probably null	Het
Lgals3bp	G	A	11: 118,393,514	T413I	probably damaging	Het
Lin54	A	G	5: 100,459,738	I250T	probably damaging	Het
Lrp1	T	C	10: 127,558,133	N2621S	probably benign	Het
Lrrtm3	T	A	10: 64,088,002	H462L	probably benign	Het
Lysmd1	A	G	3: 95,134,986	Y57C	probably damaging	Het
Mccc1	C	A	3: 35,975,873	M429I	probably damaging	Het
Metrnl	A	G	11: 121,707,924	E40G	probably benign	Het
Mios	T	A	6: 8,222,464	M466K	probably benign	Het
Mrgpra1	A	G	7: 47,335,470	S154P	probably damaging	Het
Mrpl24	T	C	3: 87,922,050		probably null	Het
Myo1f	A	G	17: 33,598,191	N736S	possibly damaging	Het
Myo1h	A	G	5: 114,360,599	I919V	possibly damaging	Het
Nampt	T	C	12: 32,848,714	L443P	possibly damaging	Het
Ndufaf2	C	G	13: 108,052,780	A145P	probably damaging	Het
Nek10	A	T	14: 14,855,714	T403S	probably benign	Het
Nme8	C	A	13: 19,657,930	V219L	probably damaging	Het
Nov	A	T	15: 54,752,207		probably null	Het
Nps	T	A	7: 135,268,788	L13Q	probably damaging	Het
Nutm1	G	A	2: 112,248,936	A878V	probably benign	Het
Ogdh	T	C	11: 6,349,875	F794L	probably damaging	Het
Olfr1305	A	T	2: 111,873,050	D268E	possibly damaging	Het
Olfr1441	A	T	19: 12,422,977	I223F	probably damaging	Het
Olfr292	T	C	7: 86,694,528	L24P	probably damaging	Het
Olfr305	C	A	7: 86,363,735	G201C	probably damaging	Het
Olfr721-ps1	A	C	14: 14,407,729	Y167S	possibly damaging	Het
Olfr998	A	G	2: 85,590,938	T133A	probably benign	Het
Pik3cg	T	C	12: 32,205,199	E263G	probably damaging	Het
Pikfyve	A	G	1: 65,267,846	T1798A	probably benign	Het
Poldip3	T	C	15: 83,131,501	Y305C	probably damaging	Het
Pqlc2	G	T	4: 139,300,001	H343Q	probably benign	Het
Prkdc	T	C	16: 15,648,976	I107T	probably benign	Het
Prmt2	A	G	10: 76,226,221	I50T	probably damaging	Het
Ptprd	T	C	4: 76,140,553	T168A	probably benign	Het
Pudp	A	G	18: 50,568,065	V199A	probably damaging	Het
Rab3c	T	C	13: 110,061,900	E198G	probably benign	Het
Rasl12	A	G	9: 65,413,448	Y156C	probably damaging	Het
Rbm12	T	C	2: 156,096,564	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,787,352	E694G	probably benign	Het
Rif1	T	C	2: 52,112,747	V2071A	probably damaging	Het
Ripply2	A	T	9: 87,019,796	N125I	probably damaging	Het
Rps6kc1	A	T	1: 190,750,188	H284Q	probably benign	Het
Scara3	A	T	14: 65,953,501	M1K	probably null	Het
Sfswap	A	G	5: 129,513,083	T215A	probably damaging	Het
Shroom2	A	C	X: 152,660,907	F421V	probably benign	Het
Sipa1l3	A	G	7: 29,377,641	V902A	probably damaging	Het
Slamf8	G	T	1: 172,584,214	P238Q	probably damaging	Het
Slc44a3	T	C	3: 121,527,074	T93A	possibly damaging	Het
Slc5a7	A	T	17: 54,278,700	I363N	probably damaging	Het
Slc7a2	T	A	8: 40,911,058	M436K	probably benign	Het
Spindoc	A	G	19: 7,374,091	S223P	probably benign	Het
Stk11ip	T	C	1: 75,530,281	F669L	possibly damaging	Het
Sun3	G	A	11: 9,038,266	L19F	probably benign	Het
Sycp1	C	A	3: 102,853,489	A703S	possibly damaging	Het
Tas2r139	T	G	6: 42,141,284	F117V	probably damaging	Het
Tdrd6	T	C	17: 43,625,576	Y1527C	probably damaging	Het
Tenm4	A	C	7: 96,774,046	K683Q	probably damaging	Het
Tfeb	T	A	17: 47,788,227		probably null	Het
Tmco4	T	C	4: 138,998,039	S121P	probably damaging	Het
Tmprss11d	C	T	5: 86,306,281	V222M	probably damaging	Het
Tnks1bp1	T	C	2: 85,063,034	W440R	probably damaging	Het
Trp53bp2	A	G	1: 182,448,997	T848A	probably benign	Het
Tssk1	G	A	16: 17,895,062	R237H	probably benign	Het
Ttll4	A	T	1: 74,679,007	T6S	possibly damaging	Het
Ttn	G	T	2: 76,721,797	Y29419*	probably null	Het
Ttn	A	G	2: 76,769,603	Y19076H	probably damaging	Het
Ubr3	T	A	2: 69,959,603	V867D	probably damaging	Het
Usp29	A	G	7: 6,961,391	T78A	probably damaging	Het
Utrn	T	G	10: 12,654,745	Q2108P	probably benign	Het
Vcan	T	C	13: 89,705,789	N351D	probably damaging	Het
Vmn1r61	A	T	7: 5,611,125	Y63*	probably null	Het
Vmn1r61	A	T	7: 5,611,127	Y63N	probably benign	Het
Vmn1r85	A	T	7: 13,084,861	W119R	probably damaging	Het
Zbtb21	A	C	16: 97,950,455	V190G	possibly damaging	Het
Zfp157	C	A	5: 138,444,789	T14N	probably damaging	Het
Zfp942	A	T	17: 21,929,419	H76Q	probably damaging	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	splice site	probably null
R4628:Ankrd12	UTSW	17	65985994	missense	probably benign
R4726:Ankrd12	UTSW	17	65970324	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
R7132:Ankrd12	UTSW	17	65983247	missense	probably benign
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
R7783:Ankrd12	UTSW	17	66027250	critical splice donor site	probably null
R7790:Ankrd12	UTSW	17	65984230	missense	possibly damaging	0.71
R7808:Ankrd12	UTSW	17	65985653	missense	possibly damaging	0.94
R7834:Ankrd12	UTSW	17	65987352	missense	probably damaging	1.00
R7896:Ankrd12	UTSW	17	65985685	nonsense	probably null
R7985:Ankrd12	UTSW	17	65984196	missense	probably benign	0.00
R8251:Ankrd12	UTSW	17	65984559	missense	possibly damaging	0.94
R8304:Ankrd12	UTSW	17	65984547	missense	possibly damaging	0.86
R8379:Ankrd12	UTSW	17	65983944	missense	probably benign	0.01
R8441:Ankrd12	UTSW	17	66042551	missense	probably benign	0.21
R8485:Ankrd12	UTSW	17	65983716	missense	probably benign	0.00
R8507:Ankrd12	UTSW	17	65986909	nonsense	probably null
R8677:Ankrd12	UTSW	17	66024214	missense	probably damaging	1.00
R8790:Ankrd12	UTSW	17	65983158	missense	possibly damaging	0.89
R8888:Ankrd12	UTSW	17	66031573	critical splice acceptor site	probably null
R8944:Ankrd12	UTSW	17	65970200	nonsense	probably null
R8957:Ankrd12	UTSW	17	65984496	missense	probably benign
R9069:Ankrd12	UTSW	17	66049879	missense	probably benign
R9226:Ankrd12	UTSW	17	65985759	missense	probably damaging	0.99
R9275:Ankrd12	UTSW	17	66037604	missense	possibly damaging	0.81
R9278:Ankrd12	UTSW	17	66037604	missense	possibly damaging	0.81
R9339:Ankrd12	UTSW	17	65984413	missense	probably benign	0.00
R9400:Ankrd12	UTSW	17	65984880	missense	probably damaging	1.00
R9581:Ankrd12	UTSW	17	65983420	missense	probably damaging	0.99
Z1176:Ankrd12	UTSW	17	65970338	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGTGCTGAGGTATTATTGAGTAAC -3'
(R):5'- CTAGGGGACGAATCAGACTCACTG -3'

Sequencing Primer
(F):5'- TTGAGTAACAAATGACTTACTGTAGG -3'
(R):5'- GACTCACTGAAGAGGATGATCC -3'

Posted On

2015-12-29