Mutagenetix > Incidental Mutation

Incidental Mutation 'R8251:Ankrd12'

640257

Institutional Source

Beutler Lab

Gene Symbol

Ankrd12

Ensembl Gene

ENSMUSG00000034647

Gene Name

ankyrin repeat domain 12

Synonyms

GAC-1, ANCO-2, 2900001A12Rik

MMRRC Submission

067677-MU

Accession Numbers

Essential gene?

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

Stock #

R8251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66272693-66384084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66291554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1293 (M1293K)

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: M1293K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: M1293K

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: 99.8%
20x: 99.5%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	T	9: 103,968,906 (GRCm39)	D463V	possibly damaging	Het
Adamtsl4	C	T	3: 95,591,884 (GRCm39)	R68Q	probably damaging	Het
Arhgap21	T	C	2: 20,854,221 (GRCm39)	T1724A	probably benign	Het
C1qtnf12	T	C	4: 156,050,916 (GRCm39)	I295T	probably damaging	Het
Cacna1s	G	T	1: 136,014,461 (GRCm39)	G623W	probably damaging	Het
Cemip2	T	C	19: 21,784,765 (GRCm39)	V416A	possibly damaging	Het
Cenpe	T	A	3: 134,957,445 (GRCm39)		probably null	Het
Cep85l	A	T	10: 53,157,450 (GRCm39)	I751N	probably damaging	Het
Corin	T	A	5: 72,514,269 (GRCm39)	D468V	probably damaging	Het
Ctsr	A	G	13: 61,310,592 (GRCm39)	V51A	probably damaging	Het
Dnah14	A	C	1: 181,492,430 (GRCm39)	E1630A	probably damaging	Het
Dsg4	C	A	18: 20,604,221 (GRCm39)	A896E	probably damaging	Het
Ear2	T	C	14: 44,340,477 (GRCm39)	L45P	probably benign	Het
Fshr	T	G	17: 89,507,913 (GRCm39)	D43A	probably benign	Het
Gata6	G	A	18: 11,054,670 (GRCm39)	G200S	probably benign	Het
Gnaq	T	A	19: 16,312,419 (GRCm39)	M227K	probably damaging	Het
Ifit1bl1	T	C	19: 34,572,232 (GRCm39)	Q75R	possibly damaging	Het
Impg2	A	G	16: 56,079,960 (GRCm39)	E479G	possibly damaging	Het
Ints7	C	T	1: 191,353,545 (GRCm39)	P957L	unknown	Het
Jmjd1c	T	C	10: 67,075,068 (GRCm39)	V73A	noncoding transcript	Het
Kansl1	A	G	11: 104,315,186 (GRCm39)	I284T	probably benign	Het
Kcnj9	A	G	1: 172,154,089 (GRCm39)	S12P	probably benign	Het
Krt16	A	G	11: 100,139,196 (GRCm39)		probably null	Het
Lrguk	A	T	6: 34,093,374 (GRCm39)	T632S	probably benign	Het
Man2b1	G	A	8: 85,821,758 (GRCm39)	V687M	probably damaging	Het
Mroh5	T	C	15: 73,655,002 (GRCm39)	E653G	probably benign	Het
Nabp1	A	T	1: 51,516,737 (GRCm39)	S44T	probably benign	Het
Nt5dc3	C	A	10: 86,656,091 (GRCm39)	H256Q	probably damaging	Het
Or1j15	A	C	2: 36,459,467 (GRCm39)	N286H	probably damaging	Het
Or4a81	A	T	2: 89,619,567 (GRCm39)	I43N	probably damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Pkd2	T	C	5: 104,646,353 (GRCm39)	V720A	probably benign	Het
Pnpla6	T	A	8: 3,582,399 (GRCm39)	N706K	probably benign	Het
Polr1b	C	A	2: 128,965,086 (GRCm39)	P724Q	probably damaging	Het
Rbpjl	A	G	2: 164,255,854 (GRCm39)	E366G	probably damaging	Het
Runx1t1	A	G	4: 13,846,947 (GRCm39)	T244A	possibly damaging	Het
Slitrk3	C	T	3: 72,956,729 (GRCm39)	R681H	possibly damaging	Het
Slu7	A	G	11: 43,330,128 (GRCm39)	Y185C	probably damaging	Het
Snupn	T	A	9: 56,888,137 (GRCm39)	F231L	probably damaging	Het
Srpk2	G	A	5: 23,729,266 (GRCm39)	P458S	probably benign	Het
St3gal5	T	A	6: 72,126,144 (GRCm39)	F330I	probably benign	Het
Taf3	T	C	2: 9,922,962 (GRCm39)	D878G	possibly damaging	Het
Tex44	A	G	1: 86,354,936 (GRCm39)	N282D	probably benign	Het
Tmem126a	T	C	7: 90,100,094 (GRCm39)	I150V	probably benign	Het
Trbv21	A	G	6: 41,179,540 (GRCm39)		probably benign	Het
Vmn2r70	A	T	7: 85,215,186 (GRCm39)	L116*	probably null	Het
Vps36	A	G	8: 22,682,932 (GRCm39)	T16A	probably benign	Het
Wdr17	C	A	8: 55,110,267 (GRCm39)	G837W	probably damaging	Het
Zfp397	T	C	18: 24,093,361 (GRCm39)	V282A	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
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
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'- AGCCTGTACAGTTAGGATGTAAGTC -3'
(R):5'- GGCTCGGAATCTCAGTTGTC -3'

Sequencing Primer
(F):5'- TTAGGATGTAAGTCAGACACATGC -3'
(R):5'- TTTTGCCAAATGCCAAATCTCCAG -3'

Posted On

2020-07-28