Mutagenetix > Incidental Mutation

Incidental Mutation 'R3612:Ankrd12'

269276

Institutional Source

Beutler Lab

Gene Symbol

Ankrd12

Ensembl Gene

ENSMUSG00000034647

Gene Name

ankyrin repeat domain 12

Synonyms

GAC-1, ANCO-2, 2900001A12Rik

MMRRC Submission

040672-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R3612 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66272693-66384084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66290542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1630 (D1630E)

Ref Sequence

ENSEMBL: ENSMUSP00000039035 (fasta)

Gene Model

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

AlphaFold

G5E893

Predicted Effect

probably benign
Transcript: ENSMUST00000038116
AA Change: D1630E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: D1630E

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

Meta Mutation Damage Score

0.0617

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (31/31)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,580,251 (GRCm39)	V192A	probably damaging	Het
Acsm2	G	C	7: 119,190,553 (GRCm39)	V90L	probably damaging	Het
Adam5	T	C	8: 25,308,105 (GRCm39)		probably benign	Het
Ccdc88c	A	T	12: 100,905,332 (GRCm39)	I1085N	probably damaging	Het
Cdc42bpb	A	G	12: 111,270,256 (GRCm39)		probably benign	Het
Cdh19	A	T	1: 110,821,026 (GRCm39)	C571S	probably damaging	Het
Cep290	T	A	10: 100,377,443 (GRCm39)	L1491*	probably null	Het
Cherp	G	A	8: 73,215,840 (GRCm39)		probably benign	Het
Diaph3	T	C	14: 87,274,893 (GRCm39)	S188G	probably null	Het
Ech1	C	T	7: 28,529,668 (GRCm39)	R34C	probably damaging	Het
Erc2	T	C	14: 27,499,134 (GRCm39)	S337P	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fah	A	G	7: 84,234,498 (GRCm39)	V412A	probably damaging	Het
Gatc	T	A	5: 115,473,545 (GRCm39)	E131D	probably benign	Het
Glrb	A	G	3: 80,769,337 (GRCm39)	V130A	possibly damaging	Het
Gm4782	T	A	6: 50,585,610 (GRCm39)		probably null	Het
Klhl1	C	T	14: 96,619,206 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo15a	G	C	11: 60,368,505 (GRCm39)	D422H	probably damaging	Het
Ncapd3	T	A	9: 26,961,653 (GRCm39)	H360Q	probably damaging	Het
Or1e22	T	C	11: 73,376,766 (GRCm39)	R295G	probably benign	Het
Ppargc1b	T	C	18: 61,443,627 (GRCm39)	N528S	probably benign	Het
Rprd2	G	A	3: 95,671,464 (GRCm39)	P1313L	probably damaging	Het
Slc12a7	C	A	13: 73,958,042 (GRCm39)	D955E	probably benign	Het
Slc9a2	G	A	1: 40,758,218 (GRCm39)		probably null	Het
Tex24	T	A	8: 27,835,201 (GRCm39)	V243D	probably benign	Het
Vmn2r17	A	G	5: 109,577,463 (GRCm39)	T505A	probably benign	Het
Vps37a	T	C	8: 40,997,977 (GRCm39)		probably benign	Het
Zmynd19	A	G	2: 24,841,492 (GRCm39)	Y20C	probably damaging	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
R0480:Ankrd12	UTSW	17	66,356,823 (GRCm39)	missense	possibly damaging	0.47
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
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'- TATGCATCTCTGGTTGGGCC -3'
(R):5'- TCCCAAGCTTTGAGAAGGC -3'

Sequencing Primer
(F):5'- CCGACTGCTGTGAATGGTTTTCC -3'
(R):5'- ACTTCAATGGGAGTGATACTGCTCAG -3'

Posted On

2015-02-19