Incidental Mutation 'R9226:Ankrd12'
ID 699887
Institutional Source Beutler Lab
Gene Symbol Ankrd12
Ensembl Gene ENSMUSG00000034647
Gene Name ankyrin repeat domain 12
Synonyms GAC-1, ANCO-2, 2900001A12Rik
MMRRC Submission 068960-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.401) question?
Stock # R9226 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 66272693-66384084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66292754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 893 (D893V)
Ref Sequence ENSEMBL: ENSMUSP00000039035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038116] [ENSMUST00000150766]
AlphaFold G5E893
Predicted Effect probably damaging
Transcript: ENSMUST00000038116
AA Change: D893V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: D893V

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 probably benign
Transcript: ENSMUST00000150766
SMART Domains Protein: ENSMUSP00000114237
Gene: ENSMUSG00000034647

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
Meta Mutation Damage Score 0.2331 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (57/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,118,518 (GRCm39) M1L probably benign Het
Adgrf4 C A 17: 42,980,606 (GRCm39) A160S probably damaging Het
Adgrl1 T C 8: 84,656,426 (GRCm39) V243A possibly damaging Het
Adgrl4 G T 3: 151,198,064 (GRCm39) probably null Het
Alg8 A G 7: 97,027,423 (GRCm39) Y97C probably damaging Het
Anxa6 T A 11: 54,885,791 (GRCm39) T385S probably benign Het
Art4 A T 6: 136,831,365 (GRCm39) C259S probably damaging Het
Ccer2 T C 7: 28,456,561 (GRCm39) S102P possibly damaging Het
Cdhr3 A G 12: 33,132,320 (GRCm39) F101S probably damaging Het
Ctdsp1 G T 1: 74,434,735 (GRCm39) G260W probably damaging Het
Cyp24a1 T C 2: 170,338,277 (GRCm39) Y89C probably damaging Het
Cyp2d34 T C 15: 82,504,901 (GRCm39) D53G probably damaging Het
Dnah7a A C 1: 53,560,326 (GRCm39) I2115S possibly damaging Het
Exoc4 T A 6: 33,895,359 (GRCm39) I792N possibly damaging Het
Gm4353 A G 7: 115,683,006 (GRCm39) F192L probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Ift140 T C 17: 25,317,839 (GRCm39) V1441A probably benign Het
Ighv1-49 A T 12: 115,019,073 (GRCm39) C41S probably damaging Het
Lgalsl A T 11: 20,779,306 (GRCm39) I113N possibly damaging Het
Lrp1b T C 2: 41,401,460 (GRCm39) D398G Het
Lrrc4b A G 7: 44,112,099 (GRCm39) H657R possibly damaging Het
Map2k2 T C 10: 80,955,193 (GRCm39) V228A possibly damaging Het
Mdn1 A G 4: 32,694,612 (GRCm39) I1112V probably benign Het
Mipep T A 14: 61,068,692 (GRCm39) M488K possibly damaging Het
Myo15b A G 11: 115,750,924 (GRCm39) T565A Het
Nfat5 T C 8: 108,095,401 (GRCm39) L1214P probably damaging Het
Nphp3 A G 9: 103,885,328 (GRCm39) T223A probably benign Het
Or10s1 A G 9: 39,986,187 (GRCm39) I199V probably benign Het
Or52s19 A G 7: 103,008,092 (GRCm39) M103T probably damaging Het
Pkn2 G A 3: 142,499,709 (GRCm39) R939W probably damaging Het
Pla2g4c T C 7: 13,059,671 (GRCm39) C3R possibly damaging Het
Plxnd1 A T 6: 115,934,524 (GRCm39) I1803N probably damaging Het
Pygb C A 2: 150,662,781 (GRCm39) H583N possibly damaging Het
Rbm20 A G 19: 53,839,645 (GRCm39) D878G possibly damaging Het
Rdx C A 9: 51,992,468 (GRCm39) Q414K probably benign Het
Scara3 T C 14: 66,169,233 (GRCm39) E128G possibly damaging Het
Sel1l2 T C 2: 140,097,222 (GRCm39) Y361C probably damaging Het
Sfmbt2 T C 2: 10,442,860 (GRCm39) I179T probably benign Het
Sgsm2 C T 11: 74,748,960 (GRCm39) V567M possibly damaging Het
Sirt4 G A 5: 115,618,372 (GRCm39) T234M probably damaging Het
Stab1 T G 14: 30,867,812 (GRCm39) K1653Q probably benign Het
Strn4 T C 7: 16,559,722 (GRCm39) probably benign Het
Stxbp5l C A 16: 37,076,206 (GRCm39) S280I probably damaging Het
Tex30 G A 1: 44,126,133 (GRCm39) R199W probably damaging Het
Tjp3 A C 10: 81,110,420 (GRCm39) F731V probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tmco3 A G 8: 13,360,143 (GRCm39) probably null Het
Tmem94 C A 11: 115,683,191 (GRCm39) A658E probably damaging Het
Tnxb T A 17: 34,904,766 (GRCm39) L1177Q probably damaging Het
Trim28 G A 7: 12,763,490 (GRCm39) A544T probably benign Het
Upf2 T A 2: 6,051,845 (GRCm39) V1169D unknown Het
Usp20 C A 2: 30,907,412 (GRCm39) A648D probably damaging Het
Vmn2r108 T G 17: 20,691,330 (GRCm39) N398H probably benign Het
Whamm A T 7: 81,243,655 (GRCm39) S626C probably damaging Het
Zbtb44 A G 9: 30,975,524 (GRCm39) S385G possibly damaging Het
Zfp580 C T 7: 5,056,137 (GRCm39) Q166* probably null 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
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'- TGCTGTCTCCTGTACTGGAC -3'
(R):5'- ATCGGCGCTTTCAGACTAAGG -3'

Sequencing Primer
(F):5'- CTCTTCCTGCAAATGTTTCAAGTTAG -3'
(R):5'- CTTTCAGACTAAGGAGAAAGAGCTTG -3'
Posted On 2022-02-07