Mutagenetix > Incidental Mutation

Incidental Mutation 'R4176:Ankrd12'

319531

Institutional Source

Beutler Lab

Gene Symbol

Ankrd12

Ensembl Gene

ENSMUSG00000034647

Gene Name

ankyrin repeat domain 12

Synonyms

GAC-1, ANCO-2, 2900001A12Rik

MMRRC Submission

041014-MU

Accession Numbers

Essential gene?

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

Stock #

R4176 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66272693-66384084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66334361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 204 (N204K)

Ref Sequence

ENSEMBL: ENSMUSP00000114237 (fasta)

Gene Model

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

AlphaFold

G5E893

Predicted Effect

probably damaging
Transcript: ENSMUST00000038116
AA Change: N227K

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

SMART Domains

Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: N227K

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: ENSMUST00000143516

Predicted Effect

probably damaging
Transcript: ENSMUST00000150766
AA Change: N204K

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

SMART Domains

Protein: ENSMUSP00000114237
Gene: ENSMUSG00000034647
AA Change: N204K

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: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,522,000 (GRCm39)	E1274G	possibly damaging	Het
Abi3bp	A	G	16: 56,472,563 (GRCm39)	E424G	probably damaging	Het
Ankrd10	A	G	8: 11,662,644 (GRCm39)	I363T	probably benign	Het
Brca2	C	A	5: 150,463,098 (GRCm39)	S954*	probably null	Het
Col11a1	A	C	3: 114,001,872 (GRCm39)	D432A	possibly damaging	Het
Dagla	G	T	19: 10,240,461 (GRCm39)	D256E	probably damaging	Het
Dsg2	T	A	18: 20,713,720 (GRCm39)	F230L	probably benign	Het
Elp5	T	C	11: 69,861,388 (GRCm39)	Q197R	probably null	Het
Emilin2	A	T	17: 71,581,258 (GRCm39)	D489E	probably benign	Het
Entrep3	T	C	3: 89,091,754 (GRCm39)	V87A	probably damaging	Het
Ermp1	A	G	19: 29,623,365 (GRCm39)		probably null	Het
Fam149a	A	G	8: 45,794,321 (GRCm39)	Y614H	probably benign	Het
Fnbp1	T	C	2: 30,926,131 (GRCm39)		probably null	Het
Gabrb3	T	C	7: 57,241,061 (GRCm39)	F13S	probably benign	Het
Hydin	G	A	8: 111,320,452 (GRCm39)	A4499T	probably benign	Het
Islr2	A	T	9: 58,107,183 (GRCm39)	C26S	probably damaging	Het
Jup	T	A	11: 100,263,287 (GRCm39)	D696V	probably benign	Het
Kcnq5	A	C	1: 21,605,392 (GRCm39)	V171G	probably damaging	Het
Kntc1	T	G	5: 123,914,680 (GRCm39)	S667A	possibly damaging	Het
Loxhd1	A	G	18: 77,418,755 (GRCm39)	T293A	possibly damaging	Het
Lrp1b	C	A	2: 41,298,405 (GRCm39)	C138F	probably damaging	Het
Lrrc37	T	A	11: 103,427,426 (GRCm39)	H1388L	unknown	Het
Mctp2	A	G	7: 71,909,085 (GRCm39)	I76T	probably benign	Het
Or2z8	A	G	8: 72,812,028 (GRCm39)	Y168C	probably damaging	Het
Or5k16	T	C	16: 58,736,947 (GRCm39)	D19G	probably benign	Het
Pbx1	A	G	1: 168,018,841 (GRCm39)		probably null	Het
Pelp1	A	T	11: 70,287,693 (GRCm39)	W410R	probably damaging	Het
Phaf1	T	C	8: 105,967,763 (GRCm39)	L218P	probably benign	Het
Pkd1	T	C	17: 24,806,971 (GRCm39)	L3482P	probably benign	Het
Plekhn1	C	T	4: 156,306,258 (GRCm39)	G604E	probably benign	Het
Ptpn22	A	G	3: 103,793,561 (GRCm39)	T571A	probably benign	Het
Qrsl1	A	T	10: 43,760,828 (GRCm39)	S252T	probably damaging	Het
Rab3gap2	T	A	1: 184,978,863 (GRCm39)	M280K	probably damaging	Het
Serpinh1	T	C	7: 98,996,206 (GRCm39)	M293V	probably benign	Het
Six4	G	A	12: 73,155,605 (GRCm39)	T454I	probably damaging	Het
Slc26a8	T	A	17: 28,866,973 (GRCm39)	E585D	probably benign	Het
Slc34a2	T	G	5: 53,224,910 (GRCm39)	C350W	probably damaging	Het
Slit2	T	A	5: 48,394,586 (GRCm39)		probably null	Het
Trip11	G	A	12: 101,861,957 (GRCm39)	Q203*	probably null	Het
Trpm7	T	C	2: 126,671,083 (GRCm39)	K633R	possibly damaging	Het
Usp38	A	C	8: 81,719,928 (GRCm39)	S434A	probably benign	Het
Zbtb16	A	G	9: 48,571,101 (GRCm39)	F555S	probably damaging	Het
Zfp141	A	T	7: 42,125,705 (GRCm39)	S256T	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
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'- ACTGAAGTGTGAGCCCTGAC -3'
(R):5'- TTTAGCTGACTCCTAACCAAGTC -3'

Sequencing Primer
(F):5'- TGTGAGCCCTGACACAAGCAG -3'
(R):5'- GGCACCAGATCTCATTATGGATG -3'

Posted On

2015-06-10