Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00790:Ankrd12'

8890

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd12

Ensembl Gene

ENSMUSG00000034647

Gene Name

ankyrin repeat domain 12

Synonyms

GAC-1, ANCO-2, 2900001A12Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00790

Quality Score

Status

Chromosome

Chromosomal Location

66272693-66384084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66291175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1419 (N1419K)

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: N1419K

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

SMART Domains

Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: N1419K

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef18	A	G	8: 3,479,553 (GRCm39)	E79G	probably damaging	Het
Art4	T	A	6: 136,831,493 (GRCm39)	Q216L	probably damaging	Het
Bbs4	T	C	9: 59,231,348 (GRCm39)	D407G	probably benign	Het
Cherp	A	G	8: 73,222,090 (GRCm39)	I277T	probably damaging	Het
Cnot2	A	G	10: 116,342,976 (GRCm39)	M119T	probably benign	Het
Disp2	T	A	2: 118,616,759 (GRCm39)	C73S	probably damaging	Het
Dock4	T	C	12: 40,884,390 (GRCm39)	S1686P	probably damaging	Het
Dsc1	C	T	18: 20,227,953 (GRCm39)	G468S	probably damaging	Het
Duox2	T	A	2: 122,122,781 (GRCm39)	D551V	possibly damaging	Het
Gmip	T	A	8: 70,269,661 (GRCm39)	Y585*	probably null	Het
Gnal	A	G	18: 67,267,360 (GRCm39)		probably null	Het
Idh1	T	G	1: 65,205,281 (GRCm39)	Q228P	possibly damaging	Het
Igsf10	A	T	3: 59,226,938 (GRCm39)	I2245N	probably damaging	Het
Mrgpra4	A	T	7: 47,631,052 (GRCm39)	M183K	possibly damaging	Het
Npr2	T	A	4: 43,641,612 (GRCm39)	V472D	possibly damaging	Het
Pcdh7	A	T	5: 57,878,806 (GRCm39)	N787I	probably damaging	Het
Phf8-ps	A	G	17: 33,286,361 (GRCm39)	V147A	probably damaging	Het
Ppp1r10	A	T	17: 36,235,751 (GRCm39)	N111I	probably damaging	Het
Ppp3ca	A	G	3: 136,640,942 (GRCm39)	N508D	probably benign	Het
Rgs17	A	G	10: 5,862,624 (GRCm38)	Q25P	possibly damaging	Het
Slco6d1	T	A	1: 98,348,925 (GRCm39)		probably benign	Het
Tab3	T	A	X: 84,665,210 (GRCm39)	N591K	probably damaging	Het
Tfcp2	T	C	15: 100,411,059 (GRCm39)		probably benign	Het
Them5	A	T	3: 94,250,716 (GRCm39)	D93V	probably damaging	Het
Thoc5	T	G	11: 4,868,147 (GRCm39)	V275G	probably damaging	Het
Trmt1l	T	C	1: 151,318,463 (GRCm39)		probably null	Het
Zdbf2	G	T	1: 63,345,673 (GRCm39)	V1351F	possibly damaging	Het
Zfp14	G	T	7: 29,738,312 (GRCm39)	Y224*	probably null	Het
Zfp606	T	G	7: 12,228,159 (GRCm39)	M702R	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
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
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

Posted On

2012-12-06