Incidental Mutation 'R9278:Ankrd12'
ID 703476
Institutional Source Beutler Lab
Gene Symbol Ankrd12
Ensembl Gene ENSMUSG00000034647
Gene Name ankyrin repeat domain 12
Synonyms GAC-1, ANCO-2, 2900001A12Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.401) question?
Stock # R9278 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 66272693-66384084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66344599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 91 (E91K)
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: E114K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: E114K

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 possibly damaging
Transcript: ENSMUST00000150766
AA Change: E91K

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114237
Gene: ENSMUSG00000034647
AA Change: E91K

DomainStartEndE-ValueType
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: 93.4%
  • 3x: 93.4%
  • 10x: 93.2%
  • 20x: 92.9%
Validation Efficiency 97% (77/79)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T A 17: 14,024,270 (GRCm39) C59S probably damaging Het
Aicda C T 6: 122,538,854 (GRCm39) A161V possibly damaging Het
Arpc2 C A 1: 74,276,041 (GRCm39) F19L probably benign Het
Aspa T C 11: 73,215,280 (GRCm39) K12E possibly damaging Het
Chd8 G A 14: 52,472,627 (GRCm39) P392L probably benign Het
Cldn10 C T 14: 119,111,647 (GRCm39) R206W probably damaging Het
Clec4b2 T A 6: 123,181,224 (GRCm39) M203K probably damaging Het
Clec4d G T 6: 123,251,651 (GRCm39) E178* probably null Het
Clec4d T C 6: 123,251,649 (GRCm39) M177T probably benign Het
Cmpk2 A T 12: 26,519,568 (GRCm39) Y73F probably benign Het
Col1a1 T A 11: 94,838,103 (GRCm39) V845D unknown Het
Cyp2c67 C T 19: 39,597,699 (GRCm39) R433Q probably damaging Het
Dda1 A T 8: 71,927,130 (GRCm39) probably null Het
Ddx60 A T 8: 62,431,012 (GRCm39) Y849F possibly damaging Het
Dnm2 C T 9: 21,416,977 (GRCm39) R837W possibly damaging Het
Dtwd1 C T 2: 126,006,728 (GRCm39) T250I probably damaging Het
Efcab6 A G 15: 83,777,094 (GRCm39) V1114A probably damaging Het
Fat4 A G 3: 38,945,171 (GRCm39) T1355A probably benign Het
Fbxo40 T G 16: 36,789,940 (GRCm39) D390A possibly damaging Het
Gnaz T A 10: 74,827,437 (GRCm39) L63Q probably benign Het
H6pd T A 4: 150,080,307 (GRCm39) K179N probably damaging Het
Hmgb2 A G 8: 57,965,786 (GRCm39) probably benign Het
Hps5 A G 7: 46,440,397 (GRCm39) F18L probably benign Het
Hyal5 A G 6: 24,876,694 (GRCm39) E189G probably benign Het
Ifnar1 T A 16: 91,302,013 (GRCm39) I496N probably damaging Het
Ift70a2 T C 2: 75,807,375 (GRCm39) D379G probably damaging Het
Igf2r C A 17: 12,914,240 (GRCm39) C1743F probably damaging Het
Igfn1 C A 1: 135,901,185 (GRCm39) R431L probably damaging Het
Itch A G 2: 155,045,217 (GRCm39) Q507R probably benign Het
Kbtbd2 C A 6: 56,757,331 (GRCm39) R135L probably damaging Het
Kcnn2 T C 18: 45,725,446 (GRCm39) I314T probably damaging Het
Lix1 A G 17: 17,623,211 (GRCm39) D2G probably damaging Het
Lrp1b T C 2: 40,487,076 (GRCm39) Y4557C Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mcam G T 9: 44,046,473 (GRCm39) probably benign Het
Med19 G T 2: 84,508,975 (GRCm39) G63C probably damaging Het
Mfsd4b1 C T 10: 39,883,330 (GRCm39) R40H probably damaging Het
Neb C T 2: 52,146,190 (GRCm39) R2929H probably damaging Het
Nlrc5 A G 8: 95,237,908 (GRCm39) D1434G probably benign Het
Nlrp14 A T 7: 106,797,049 (GRCm39) N972I probably damaging Het
Or13a18 T C 7: 140,190,936 (GRCm39) Y278H probably damaging Het
Or14j7 A T 17: 38,235,275 (GRCm39) M273L probably benign Het
Or2h15 A T 17: 38,441,693 (GRCm39) L130Q probably damaging Het
Or4a74 A C 2: 89,439,948 (GRCm39) F166C probably damaging Het
Or8g29-ps1 A G 9: 39,200,781 (GRCm39) V135A probably benign Het
Otop1 T C 5: 38,460,158 (GRCm39) V575A probably damaging Het
Pcdhb4 A G 18: 37,441,925 (GRCm39) S412G possibly damaging Het
Pcsk4 T C 10: 80,161,224 (GRCm39) D230G probably damaging Het
Phldb2 C A 16: 45,646,308 (GRCm39) S46I probably damaging Het
Pik3ca A T 3: 32,508,587 (GRCm39) N785I probably damaging Het
Polr2b A G 5: 77,471,485 (GRCm39) R274G probably damaging Het
Prkdc G A 16: 15,634,523 (GRCm39) probably null Het
Prune2 C T 19: 17,101,144 (GRCm39) T2216I probably benign Het
Psma3 A T 12: 71,041,156 (GRCm39) D252V probably benign Het
Rnf213 T C 11: 119,326,768 (GRCm39) V1586A Het
Ryr2 T C 13: 11,897,976 (GRCm39) T140A probably benign Het
Slc25a48 A G 13: 56,611,552 (GRCm39) I220V probably benign Het
Slc2a1 A T 4: 118,990,607 (GRCm39) E246D probably benign Het
Slc45a4 A G 15: 73,458,206 (GRCm39) Y448H probably benign Het
Sorl1 C T 9: 41,957,857 (GRCm39) V596I probably benign Het
Spag6 A C 2: 18,703,985 (GRCm39) E11A probably benign Het
Spef2 A G 15: 9,727,495 (GRCm39) probably null Het
Spon1 T C 7: 113,628,188 (GRCm39) S315P probably damaging Het
Stard3 G A 11: 98,262,931 (GRCm39) probably benign Het
Sv2c A G 13: 96,112,589 (GRCm39) M636T probably damaging Het
Syt17 T A 7: 118,033,480 (GRCm39) D172V probably damaging Het
Tcf4 A G 18: 69,766,652 (GRCm39) Y206C probably damaging Het
Tead2 G T 7: 44,880,776 (GRCm39) S318I probably benign Het
Tom1 A T 8: 75,783,883 (GRCm39) D289V probably damaging Het
Tonsl A G 15: 76,520,971 (GRCm39) probably benign Het
Tsen15 T C 1: 152,259,098 (GRCm39) I87V probably damaging Het
Usp15 A G 10: 123,007,112 (GRCm39) F123S probably damaging Het
Vmn1r220 A T 13: 23,368,258 (GRCm39) I146N possibly damaging Het
Vmn2r108 A T 17: 20,692,561 (GRCm39) N98K probably benign Het
Vmn2r71 T A 7: 85,269,788 (GRCm39) M433K probably benign Het
Vmn2r97 A T 17: 19,134,762 (GRCm39) H60L probably benign Het
Wbp4 A G 14: 79,699,486 (GRCm39) V336A probably benign Het
Zfp663 T C 2: 165,202,010 (GRCm39) probably null Het
Zpld2 A G 4: 133,922,770 (GRCm39) L521P probably damaging 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
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
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'- AAAGTTACCCTGACCCTAGGC -3'
(R):5'- AGGACTGTTTGAATTGGTAAGGAC -3'

Sequencing Primer
(F):5'- CCTAGGCCAGCTGAGAAGAC -3'
(R):5'- TCTTTCAGAGAAAATACTGCTTACG -3'
Posted On 2022-03-25