Incidental Mutation 'IGL02125:Ankrd12'
ID 280841
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 # IGL02125
Quality Score
Status
Chromosome 17
Chromosomal Location 66272693-66384084 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 66277139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038116]
AlphaFold G5E893
Predicted Effect probably benign
Transcript: ENSMUST00000038116
SMART Domains Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647

DomainStartEndE-ValueType
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: ENSMUST00000139901
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 56,324,974 (GRCm39) C493* probably null Het
Aldh16a1 G A 7: 44,795,459 (GRCm39) P400L probably damaging Het
Anxa5 G A 3: 36,506,413 (GRCm39) T213I probably damaging Het
Baz2b A G 2: 59,798,984 (GRCm39) L380S probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cacna2d2 C T 9: 107,391,103 (GRCm39) Q411* probably null Het
Cdh19 A G 1: 110,857,614 (GRCm39) V240A possibly damaging Het
Cltc A T 11: 86,595,636 (GRCm39) probably benign Het
Dclk3 T A 9: 111,298,175 (GRCm39) V573E probably damaging Het
Dhx29 T C 13: 113,091,834 (GRCm39) probably benign Het
Dip2b T C 15: 100,084,131 (GRCm39) L918P possibly damaging Het
Dzip3 A T 16: 48,747,959 (GRCm39) N1150K probably damaging Het
Fgf5 T C 5: 98,402,391 (GRCm39) S41P possibly damaging Het
Galc A T 12: 98,197,768 (GRCm39) Y120N probably damaging Het
Gldc T C 19: 30,124,641 (GRCm39) N219S probably benign Het
Gm11563 A T 11: 99,549,631 (GRCm39) V41E unknown Het
Gpatch11 T A 17: 79,147,538 (GRCm39) N106K probably benign Het
Gpx3 A G 11: 54,798,068 (GRCm39) N68S probably damaging Het
Ibtk T C 9: 85,617,123 (GRCm39) N150D probably damaging Het
Iglc2 G A 16: 19,017,462 (GRCm39) P48S probably benign Het
Itih5 G A 2: 10,245,798 (GRCm39) R629H probably benign Het
Kank1 T A 19: 25,388,067 (GRCm39) V552E possibly damaging Het
Kmt2a T A 9: 44,759,983 (GRCm39) H655L probably damaging Het
Mme A T 3: 63,256,070 (GRCm39) N510I probably damaging Het
Mrtfb A G 16: 13,218,047 (GRCm39) probably null Het
Obscn A G 11: 58,913,188 (GRCm39) I6943T probably damaging Het
Obscn G T 11: 58,984,152 (GRCm39) Q1768K possibly damaging Het
Or51k2 T A 7: 103,596,279 (GRCm39) C169S probably damaging Het
Or5ac25 T C 16: 59,181,879 (GRCm39) N234S probably benign Het
Otud3 A T 4: 138,624,025 (GRCm39) probably null Het
Parp4 A G 14: 56,827,959 (GRCm39) K237E probably benign Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pttg1ip2 T C 5: 5,500,644 (GRCm39) *151W probably null Het
Rbbp6 T C 7: 122,570,352 (GRCm39) probably null Het
Rdh16 G T 10: 127,647,188 (GRCm39) probably benign Het
Ropn1 A G 16: 34,487,147 (GRCm39) T28A probably benign Het
Sec24d T C 3: 123,152,607 (GRCm39) V873A probably damaging Het
Serpinb3b T A 1: 107,082,474 (GRCm39) L263F probably damaging Het
Shq1 T C 6: 100,607,967 (GRCm39) T315A probably benign Het
Slc13a4 T C 6: 35,255,223 (GRCm39) E355G probably benign Het
Slc26a9 T C 1: 131,687,175 (GRCm39) S445P probably damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Slc4a10 A T 2: 62,098,515 (GRCm39) M550L probably benign Het
Spata31e5 T C 1: 28,815,419 (GRCm39) N871S possibly damaging Het
Syt17 T C 7: 118,009,197 (GRCm39) D341G probably benign Het
Tmem62 A G 2: 120,826,993 (GRCm39) Y430C probably benign Het
Upp1 A G 11: 9,075,650 (GRCm39) probably benign Het
Vmn1r91 T G 7: 19,835,429 (GRCm39) V116G probably damaging Het
Vmn2r101 A T 17: 19,809,963 (GRCm39) I250F possibly damaging Het
Vmn2r116 T G 17: 23,616,601 (GRCm39) probably benign Het
Vmn2r72 C T 7: 85,399,919 (GRCm39) V377I probably benign Het
Zfp592 G T 7: 80,687,932 (GRCm39) A953S probably benign Het
Other mutations in Ankrd12
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16