Mutagenetix > Incidental Mutation

Incidental Mutation 'R0480:Ankrd12'

41985

Institutional Source

Beutler Lab

Gene Symbol

Ankrd12

Ensembl Gene

ENSMUSG00000034647

Gene Name

ankyrin repeat domain 12

Synonyms

GAC-1, ANCO-2, 2900001A12Rik

MMRRC Submission

038680-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.401) question?

Stock #

R0480 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

66272693-66384084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66356823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 65 (T65A)

Ref Sequence

ENSEMBL: ENSMUSP00000039035 (fasta)

Gene Model

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

AlphaFold

G5E893

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038116
AA Change: T65A

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: T65A

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: ENSMUST00000124297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143516

Predicted Effect

probably benign
Transcript: ENSMUST00000150766
AA Change: T65A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114237
Gene: ENSMUSG00000034647
AA Change: T65A

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

Meta Mutation Damage Score

0.2529

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (117/118)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,012 (GRCm39)	L165F	probably damaging	Het
Adamts18	A	G	8: 114,465,450 (GRCm39)	V714A	possibly damaging	Het
Adamtsl1	G	T	4: 86,171,055 (GRCm39)	A518S	probably benign	Het
Adcy2	C	T	13: 68,880,231 (GRCm39)	V363M	probably damaging	Het
Ago4	G	T	4: 126,419,870 (GRCm39)	Q36K	probably benign	Het
Akr1a1	A	G	4: 116,497,044 (GRCm39)	V172A	possibly damaging	Het
Alkbh2	T	A	5: 114,263,596 (GRCm39)	N137I	probably damaging	Het
Ank3	T	A	10: 69,715,756 (GRCm39)	S470T	probably damaging	Het
Aox1	A	T	1: 58,082,810 (GRCm39)		probably benign	Het
Arhgap11a	A	T	2: 113,670,163 (GRCm39)	I320N	probably benign	Het
Arhgap17	G	A	7: 122,893,867 (GRCm39)	H518Y	probably damaging	Het
Ascc3	T	C	10: 50,611,348 (GRCm39)	V1563A	probably damaging	Het
Atf2	G	A	2: 73,649,500 (GRCm39)		probably benign	Het
Bmpr2	C	T	1: 59,884,818 (GRCm39)	T268I	probably damaging	Het
Bpifb9a	A	G	2: 154,106,608 (GRCm39)	I380V	probably benign	Het
C2cd2	G	A	16: 97,678,348 (GRCm39)	T363I	probably benign	Het
Catsperg2	T	G	7: 29,420,723 (GRCm39)	N190H	probably damaging	Het
Ccdc138	T	C	10: 58,397,789 (GRCm39)	L543S	probably damaging	Het
Ccdc170	A	T	10: 4,468,939 (GRCm39)	K162N	probably benign	Het
Cdca5	G	T	19: 6,140,328 (GRCm39)	R163L	probably damaging	Het
Cdh24	A	G	14: 54,870,054 (GRCm39)	F239S	probably benign	Het
Cdkl3	T	C	11: 51,895,882 (GRCm39)	V43A	probably damaging	Het
Cep152	G	T	2: 125,423,639 (GRCm39)	Q921K	possibly damaging	Het
Cftr	G	A	6: 18,274,517 (GRCm39)		probably benign	Het
Chmp5	T	C	4: 40,948,690 (GRCm39)		probably benign	Het
Cit	T	A	5: 116,071,452 (GRCm39)		probably benign	Het
Cngb3	T	A	4: 19,309,517 (GRCm39)		probably benign	Het
Cnr2	A	G	4: 135,644,912 (GRCm39)	E330G	probably benign	Het
Cyp21a1	A	T	17: 35,020,800 (GRCm39)	L473Q	probably damaging	Het
Dchs1	T	C	7: 105,420,696 (GRCm39)	T575A	probably benign	Het
Dedd2	A	G	7: 24,903,050 (GRCm39)	V303A	probably damaging	Het
Dmd	G	T	X: 83,469,344 (GRCm39)	A2370S	probably benign	Het
Dnah10	T	A	5: 124,885,915 (GRCm39)	N3009K	probably damaging	Het
Dnajc13	G	T	9: 104,077,708 (GRCm39)	N934K	probably damaging	Het
Dock1	C	T	7: 134,339,447 (GRCm39)	L106F	probably damaging	Het
Fat3	A	G	9: 15,909,025 (GRCm39)	Y2326H	probably benign	Het
Fhl5	A	T	4: 25,207,101 (GRCm39)	C222*	probably null	Het
Gnmt	T	C	17: 47,036,854 (GRCm39)	T252A	probably benign	Het
Gpi-ps	A	G	8: 5,689,888 (GRCm39)		noncoding transcript	Het
Gsta5	C	T	9: 78,210,099 (GRCm39)	A135V	probably benign	Het
Gtf2f1	A	G	17: 57,311,307 (GRCm39)		probably null	Het
Gtf3a	T	C	5: 146,890,039 (GRCm39)	Y187H	probably damaging	Het
Hdac2	A	G	10: 36,850,788 (GRCm39)	Y14C	probably damaging	Het
Hnrnph1	T	G	11: 50,276,589 (GRCm39)		probably benign	Het
Homer2	T	C	7: 81,268,351 (GRCm39)	D92G	possibly damaging	Het
Hspg2	T	C	4: 137,277,335 (GRCm39)	S2885P	probably damaging	Het
Insr	A	G	8: 3,211,770 (GRCm39)	S1084P	probably damaging	Het
Ints11	T	A	4: 155,972,081 (GRCm39)	V362E	probably damaging	Het
Kank2	T	C	9: 21,691,195 (GRCm39)	N513S	probably damaging	Het
Kl	T	G	5: 150,876,753 (GRCm39)	V191G	probably damaging	Het
Krt23	A	G	11: 99,377,524 (GRCm39)		probably null	Het
Lama3	A	C	18: 12,583,481 (GRCm39)	T690P	possibly damaging	Het
Lamb1	G	A	12: 31,332,720 (GRCm39)	A281T	possibly damaging	Het
Lck	T	C	4: 129,449,433 (GRCm39)	E299G	probably damaging	Het
Lonrf1	A	G	8: 36,689,864 (GRCm39)	V703A	probably damaging	Het
Ly6f	T	C	15: 75,143,526 (GRCm39)	C78R	probably damaging	Het
Mapkap1	C	T	2: 34,423,793 (GRCm39)		probably benign	Het
Mast1	T	A	8: 85,639,718 (GRCm39)	I1204F	probably damaging	Het
Mbd6	C	T	10: 127,121,742 (GRCm39)		probably benign	Het
Mef2c	A	T	13: 83,741,020 (GRCm39)	T60S	probably damaging	Het
Mgat4c	C	T	10: 102,224,980 (GRCm39)	T398I	probably damaging	Het
Mmp12	C	A	9: 7,350,016 (GRCm39)	H102Q	probably damaging	Het
Mmp20	G	A	9: 7,645,374 (GRCm39)	G308E	probably damaging	Het
Mms19	A	T	19: 41,943,285 (GRCm39)	L395Q	probably damaging	Het
Mus81	A	G	19: 5,537,959 (GRCm39)		probably benign	Het
Mypn	C	T	10: 63,028,982 (GRCm39)	R27H	probably benign	Het
Nav3	T	C	10: 109,689,161 (GRCm39)	E372G	probably damaging	Het
Ncoa1	T	A	12: 4,389,105 (GRCm39)	I57F	probably damaging	Het
Ncstn	T	C	1: 171,910,159 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Notch2	C	T	3: 98,053,853 (GRCm39)	T2172I	possibly damaging	Het
Obscn	T	A	11: 59,024,772 (GRCm39)	K423*	probably null	Het
Or51l14	A	G	7: 103,100,835 (GRCm39)	N97S	probably benign	Het
Or5d37	A	C	2: 87,923,972 (GRCm39)	S103A	probably benign	Het
Or5k1	T	C	16: 58,617,684 (GRCm39)	N175S	probably benign	Het
Or9a2	A	T	6: 41,749,198 (GRCm39)	C12S	probably benign	Het
Ostm1	T	A	10: 42,572,343 (GRCm39)	M242K	probably damaging	Het
Oxnad1	T	A	14: 31,821,437 (GRCm39)	I154N	probably damaging	Het
Pcdhb10	T	A	18: 37,546,152 (GRCm39)	D409E	probably damaging	Het
Pdcd11	T	C	19: 47,113,476 (GRCm39)		probably benign	Het
Peak1	C	A	9: 56,165,916 (GRCm39)	V671L	probably benign	Het
Pex1	G	A	5: 3,656,444 (GRCm39)		probably null	Het
Plk4	T	A	3: 40,760,075 (GRCm39)	F324I	probably benign	Het
Poglut2	C	T	1: 44,149,917 (GRCm39)	W424*	probably null	Het
Ppfibp1	C	A	6: 146,920,529 (GRCm39)		probably null	Het
Prcp	T	A	7: 92,568,290 (GRCm39)	W276R	probably damaging	Het
Prr14l	T	C	5: 32,987,224 (GRCm39)	E757G	probably benign	Het
Prss52	T	A	14: 64,351,093 (GRCm39)	Y293N	probably damaging	Het
Prune2	A	G	19: 16,984,156 (GRCm39)		probably benign	Het
Ptprk	G	C	10: 28,461,943 (GRCm39)	A84P	probably damaging	Het
Ptprk	C	T	10: 28,461,944 (GRCm39)	A84V	probably damaging	Het
Rock1	A	G	18: 10,079,120 (GRCm39)	L1116P	possibly damaging	Het
Sdha	A	T	13: 74,475,452 (GRCm39)	F526Y	probably benign	Het
Sema4b	T	C	7: 79,869,954 (GRCm39)	F414S	probably damaging	Het
Serpina12	T	C	12: 104,001,960 (GRCm39)	D252G	probably damaging	Het
Siglecg	C	T	7: 43,060,550 (GRCm39)	A310V	probably benign	Het
Slc30a8	A	G	15: 52,188,966 (GRCm39)	I194V	probably benign	Het
Spred3	A	G	7: 28,862,400 (GRCm39)	S148P	probably damaging	Het
Taf9b	A	G	X: 105,262,014 (GRCm39)	S58P	probably damaging	Het
Tgm4	A	T	9: 122,891,484 (GRCm39)	Y109F	probably benign	Het
Tmprss11c	T	G	5: 86,385,468 (GRCm39)		probably benign	Het
Tmtc3	A	T	10: 100,307,266 (GRCm39)	V246D	probably damaging	Het
Tnip1	C	T	11: 54,828,820 (GRCm39)	G116R	probably damaging	Het
Tpr	A	G	1: 150,303,992 (GRCm39)	E1455G	possibly damaging	Het
Ttc3	T	A	16: 94,232,863 (GRCm39)	L986*	probably null	Het
Txndc15	A	G	13: 55,872,436 (GRCm39)	I275V	possibly damaging	Het
Ugt2b1	T	A	5: 87,074,315 (GRCm39)	I15L	probably benign	Het
Upf2	T	C	2: 5,962,445 (GRCm39)	V49A	possibly damaging	Het
Vmn1r117	G	A	7: 20,617,371 (GRCm39)	P226S	probably benign	Het
Vmn2r28	A	T	7: 5,493,456 (GRCm39)	H163Q	probably benign	Het
Vstm2a	T	A	11: 16,213,240 (GRCm39)	S208R	probably damaging	Het
Zfp346	T	A	13: 55,260,910 (GRCm39)	C79*	probably null	Het
Zfp628	A	T	7: 4,924,615 (GRCm39)	T946S	probably benign	Het

Other mutations in Ankrd12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Ankrd12	APN	17	66,293,169 (GRCm39)	missense	probably benign
IGL00555:Ankrd12	APN	17	66,291,971 (GRCm39)	missense	probably benign	0.09
IGL00790:Ankrd12	APN	17	66,291,175 (GRCm39)	missense	probably benign
IGL00808:Ankrd12	APN	17	66,290,960 (GRCm39)	missense	probably benign	0.03
IGL01355:Ankrd12	APN	17	66,277,335 (GRCm39)	splice site	probably benign
IGL01707:Ankrd12	APN	17	66,291,273 (GRCm39)	missense	probably damaging	0.98
IGL02045:Ankrd12	APN	17	66,293,244 (GRCm39)	missense	probably benign	0.17
IGL02125:Ankrd12	APN	17	66,277,139 (GRCm39)	utr 3 prime	probably benign
IGL02292:Ankrd12	APN	17	66,349,582 (GRCm39)	missense	probably damaging	0.99
IGL02376:Ankrd12	APN	17	66,349,524 (GRCm39)	intron	probably benign
IGL02435:Ankrd12	APN	17	66,294,151 (GRCm39)	missense	probably damaging	1.00
IGL02530:Ankrd12	APN	17	66,291,398 (GRCm39)	missense	probably benign	0.20
R0048:Ankrd12	UTSW	17	66,291,798 (GRCm39)	missense	probably damaging	1.00
R0048:Ankrd12	UTSW	17	66,291,798 (GRCm39)	missense	probably damaging	1.00
R0094:Ankrd12	UTSW	17	66,277,171 (GRCm39)	missense	probably damaging	1.00
R0195:Ankrd12	UTSW	17	66,356,943 (GRCm39)	splice site	probably null
R0227:Ankrd12	UTSW	17	66,294,222 (GRCm39)	missense	probably benign	0.00
R0363:Ankrd12	UTSW	17	66,292,676 (GRCm39)	missense	probably damaging	1.00
R0366:Ankrd12	UTSW	17	66,291,501 (GRCm39)	missense	possibly damaging	0.93
R0376:Ankrd12	UTSW	17	66,360,004 (GRCm39)	missense	probably damaging	0.98
R0470:Ankrd12	UTSW	17	66,293,129 (GRCm39)	missense	probably benign	0.00
R0538:Ankrd12	UTSW	17	66,356,847 (GRCm39)	missense	probably damaging	1.00
R0883:Ankrd12	UTSW	17	66,292,127 (GRCm39)	missense	probably benign	0.19
R1181:Ankrd12	UTSW	17	66,349,569 (GRCm39)	missense	probably benign	0.36
R1386:Ankrd12	UTSW	17	66,290,375 (GRCm39)	missense	possibly damaging	0.94
R1476:Ankrd12	UTSW	17	66,293,300 (GRCm39)	missense	probably damaging	0.99
R1574:Ankrd12	UTSW	17	66,293,269 (GRCm39)	missense	probably benign	0.08
R1574:Ankrd12	UTSW	17	66,293,269 (GRCm39)	missense	probably benign	0.08
R1602:Ankrd12	UTSW	17	66,290,683 (GRCm39)	nonsense	probably null
R1728:Ankrd12	UTSW	17	66,291,071 (GRCm39)	missense	probably benign	0.01
R1729:Ankrd12	UTSW	17	66,291,071 (GRCm39)	missense	probably benign	0.01
R1784:Ankrd12	UTSW	17	66,291,071 (GRCm39)	missense	probably benign	0.01
R1795:Ankrd12	UTSW	17	66,293,222 (GRCm39)	missense	possibly damaging	0.89
R1901:Ankrd12	UTSW	17	66,293,698 (GRCm39)	missense	possibly damaging	0.58
R1929:Ankrd12	UTSW	17	66,293,681 (GRCm39)	missense	possibly damaging	0.55
R1952:Ankrd12	UTSW	17	66,338,566 (GRCm39)	missense	probably damaging	0.98
R1997:Ankrd12	UTSW	17	66,291,879 (GRCm39)	missense	probably damaging	1.00
R2207:Ankrd12	UTSW	17	66,338,569 (GRCm39)	splice site	probably null
R3612:Ankrd12	UTSW	17	66,290,542 (GRCm39)	missense	probably benign	0.01
R3768:Ankrd12	UTSW	17	66,292,715 (GRCm39)	missense	probably benign
R3909:Ankrd12	UTSW	17	66,291,000 (GRCm39)	missense	probably benign	0.05
R3945:Ankrd12	UTSW	17	66,283,098 (GRCm39)	missense	probably damaging	1.00
R4176:Ankrd12	UTSW	17	66,334,361 (GRCm39)	missense	probably damaging	1.00
R4461:Ankrd12	UTSW	17	66,292,932 (GRCm39)	splice site	probably null
R4628:Ankrd12	UTSW	17	66,292,989 (GRCm39)	missense	probably benign
R4726:Ankrd12	UTSW	17	66,277,319 (GRCm39)	missense	probably damaging	1.00
R4785:Ankrd12	UTSW	17	66,289,994 (GRCm39)	missense	probably damaging	1.00
R4828:Ankrd12	UTSW	17	66,291,632 (GRCm39)	missense	probably damaging	0.99
R4847:Ankrd12	UTSW	17	66,331,087 (GRCm39)	missense	probably benign	0.14
R4858:Ankrd12	UTSW	17	66,338,428 (GRCm39)	missense	probably damaging	1.00
R5344:Ankrd12	UTSW	17	66,356,843 (GRCm39)	missense	probably damaging	1.00
R5749:Ankrd12	UTSW	17	66,293,091 (GRCm39)	missense	probably benign	0.02
R7132:Ankrd12	UTSW	17	66,290,242 (GRCm39)	missense	probably benign
R7205:Ankrd12	UTSW	17	66,292,160 (GRCm39)	missense	probably damaging	1.00
R7379:Ankrd12	UTSW	17	66,292,242 (GRCm39)	nonsense	probably null
R7569:Ankrd12	UTSW	17	66,289,900 (GRCm39)	missense	probably damaging	1.00
R7570:Ankrd12	UTSW	17	66,292,355 (GRCm39)	missense	probably benign
R7783:Ankrd12	UTSW	17	66,334,245 (GRCm39)	critical splice donor site	probably null
R7790:Ankrd12	UTSW	17	66,291,225 (GRCm39)	missense	possibly damaging	0.71
R7808:Ankrd12	UTSW	17	66,292,648 (GRCm39)	missense	possibly damaging	0.94
R7834:Ankrd12	UTSW	17	66,294,347 (GRCm39)	missense	probably damaging	1.00
R7896:Ankrd12	UTSW	17	66,292,680 (GRCm39)	nonsense	probably null
R7985:Ankrd12	UTSW	17	66,291,191 (GRCm39)	missense	probably benign	0.00
R8251:Ankrd12	UTSW	17	66,291,554 (GRCm39)	missense	possibly damaging	0.94
R8304:Ankrd12	UTSW	17	66,291,542 (GRCm39)	missense	possibly damaging	0.86
R8379:Ankrd12	UTSW	17	66,290,939 (GRCm39)	missense	probably benign	0.01
R8441:Ankrd12	UTSW	17	66,349,546 (GRCm39)	missense	probably benign	0.21
R8485:Ankrd12	UTSW	17	66,290,711 (GRCm39)	missense	probably benign	0.00
R8507:Ankrd12	UTSW	17	66,293,904 (GRCm39)	nonsense	probably null
R8677:Ankrd12	UTSW	17	66,331,209 (GRCm39)	missense	probably damaging	1.00
R8790:Ankrd12	UTSW	17	66,290,153 (GRCm39)	missense	possibly damaging	0.89
R8888:Ankrd12	UTSW	17	66,338,568 (GRCm39)	critical splice acceptor site	probably null
R8944:Ankrd12	UTSW	17	66,277,195 (GRCm39)	nonsense	probably null
R8957:Ankrd12	UTSW	17	66,291,491 (GRCm39)	missense	probably benign
R9069:Ankrd12	UTSW	17	66,356,874 (GRCm39)	missense	probably benign
R9226:Ankrd12	UTSW	17	66,292,754 (GRCm39)	missense	probably damaging	0.99
R9275:Ankrd12	UTSW	17	66,344,599 (GRCm39)	missense	possibly damaging	0.81
R9278:Ankrd12	UTSW	17	66,344,599 (GRCm39)	missense	possibly damaging	0.81
R9339:Ankrd12	UTSW	17	66,291,408 (GRCm39)	missense	probably benign	0.00
R9400:Ankrd12	UTSW	17	66,291,875 (GRCm39)	missense	probably damaging	1.00
R9581:Ankrd12	UTSW	17	66,290,415 (GRCm39)	missense	probably damaging	0.99
Z1176:Ankrd12	UTSW	17	66,277,333 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAACAGATGCACTTCTGCCACCA -3'
(R):5'- GGTGTTTTGTCTTCCTGCGTATACATGA -3'

Sequencing Primer
(F):5'- TTCTGCCACCAGGATAAAACTG -3'
(R):5'- cagaagaggacattgggagg -3'

Posted On

2013-05-23