Incidental Mutation 'R9339:Ankrd12'
ID 707413
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 # R9339 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 66272693-66384084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66291408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1342 (S1342P)
Ref Sequence ENSEMBL: ENSMUSP00000039035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038116] [ENSMUST00000150766]
AlphaFold G5E893
Predicted Effect probably benign
Transcript: ENSMUST00000038116
AA Change: S1342P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: S1342P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (77/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,667,521 (GRCm39) E304G unknown Het
4933436I01Rik T A X: 66,964,689 (GRCm39) K57* probably null Het
Aar2 T C 2: 156,392,893 (GRCm39) V94A probably benign Het
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam25 T C 8: 41,206,911 (GRCm39) V59A probably damaging Het
Ampd2 T C 3: 107,987,616 (GRCm39) D103G probably damaging Het
Atp13a2 A G 4: 140,730,571 (GRCm39) T739A probably benign Het
Catsperg1 T A 7: 28,894,885 (GRCm39) N571Y probably benign Het
Cela3b A G 4: 137,152,355 (GRCm39) I74T probably damaging Het
Cfhr1 A G 1: 139,485,293 (GRCm39) L51P probably benign Het
Cfhr4 T A 1: 139,682,044 (GRCm39) Y184F probably benign Het
Ckap5 T A 2: 91,396,100 (GRCm39) D534E probably benign Het
Cstf3 C T 2: 104,493,778 (GRCm39) P594L probably damaging Het
Ctdp1 A G 18: 80,492,689 (GRCm39) L602P probably damaging Het
Defa24 A G 8: 22,224,559 (GRCm39) T3A probably damaging Het
Dmgdh A G 13: 93,847,941 (GRCm39) H546R probably benign Het
Dscam A G 16: 96,517,263 (GRCm39) V882A possibly damaging Het
Dydc2 A G 14: 40,771,260 (GRCm39) *140Q probably null Het
Ehd4 T C 2: 119,921,708 (GRCm39) D516G possibly damaging Het
En1 T C 1: 120,534,893 (GRCm39) V394A unknown Het
Erich3 T G 3: 154,468,872 (GRCm39) L1108R unknown Het
Erp27 A G 6: 136,896,945 (GRCm39) S86P probably benign Het
Esr1 A C 10: 4,696,798 (GRCm39) S216R probably damaging Het
Fbxo40 A T 16: 36,789,286 (GRCm39) I608N probably damaging Het
Fcna G A 2: 25,517,782 (GRCm39) Q23* probably null Het
Foxn4 C T 5: 114,394,955 (GRCm39) R324Q probably benign Het
Gata6 A G 18: 11,054,520 (GRCm39) T150A probably damaging Het
Gbp2b T A 3: 142,317,178 (GRCm39) H511Q probably benign Het
Gpr171 C A 3: 59,005,362 (GRCm39) V138L probably damaging Het
Grhl2 G A 15: 37,344,904 (GRCm39) V509I probably benign Het
Gzmd G A 14: 56,367,869 (GRCm39) P135S probably damaging Het
Hhatl C A 9: 121,618,862 (GRCm39) C90F probably benign Het
Hspg2 A G 4: 137,278,480 (GRCm39) K3050R probably benign Het
Kcnh3 T C 15: 99,130,786 (GRCm39) Y468H probably damaging Het
Lhfpl6 A G 3: 52,950,891 (GRCm39) H55R probably benign Het
Lpgat1 T C 1: 191,451,488 (GRCm39) V38A probably benign Het
Lrrc49 A G 9: 60,510,031 (GRCm39) I479T probably benign Het
Map1b A T 13: 99,567,570 (GRCm39) I1717N unknown Het
Map3k20 G T 2: 72,272,216 (GRCm39) R781S possibly damaging Het
Mcm3ap A G 10: 76,306,358 (GRCm39) E157G probably benign Het
Mylk2 A G 2: 152,755,370 (GRCm39) E178G probably damaging Het
Naaladl2 A G 3: 24,057,146 (GRCm39) L605P probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nt5el C T 13: 105,246,114 (GRCm39) T225I probably benign Het
Or10h28 T C 17: 33,488,631 (GRCm39) V311A probably benign Het
Or4a76 T C 2: 89,460,555 (GRCm39) E229G probably damaging Het
Padi3 A T 4: 140,522,928 (GRCm39) I348N probably benign Het
Pcdh18 T C 3: 49,709,335 (GRCm39) D660G probably damaging Het
Pdgfra T A 5: 75,355,635 (GRCm39) S1048R probably damaging Het
Pkhd1l1 T C 15: 44,452,949 (GRCm39) V3958A probably damaging Het
Ppargc1b C A 18: 61,456,267 (GRCm39) C80F probably damaging Het
Rbm28 T C 6: 29,128,674 (GRCm39) E590G probably benign Het
Rbm47 T C 5: 66,183,826 (GRCm39) E259G possibly damaging Het
Rint1 A G 5: 23,993,355 (GRCm39) *37W probably null Het
Sacs G A 14: 61,443,309 (GRCm39) R1785Q probably benign Het
Samm50 T C 15: 84,095,276 (GRCm39) C421R probably benign Het
Scnn1b G T 7: 121,511,254 (GRCm39) A314S probably damaging Het
Sf3b3 C A 8: 111,542,854 (GRCm39) V868L probably benign Het
Sirt5 G T 13: 43,530,327 (GRCm39) V136L probably benign Het
Slc1a7 T C 4: 107,850,237 (GRCm39) V116A probably damaging Het
Slc24a4 G A 12: 102,230,638 (GRCm39) V510M probably damaging Het
Slc35f5 T C 1: 125,517,628 (GRCm39) I116T probably benign Het
Spata4 T C 8: 55,053,899 (GRCm39) S22P probably benign Het
Sqstm1 A G 11: 50,091,725 (GRCm39) V324A probably benign Het
Stmnd1 G A 13: 46,453,079 (GRCm39) A252T probably benign Het
Tbl1xr1 C A 3: 22,258,150 (GRCm39) N470K possibly damaging Het
Thap12 T C 7: 98,364,323 (GRCm39) S164P possibly damaging Het
Thsd1 A G 8: 22,733,898 (GRCm39) Y315C probably damaging Het
Tnni2 C A 7: 141,997,672 (GRCm39) D102E probably damaging Het
Trav7n-4 A C 14: 53,328,849 (GRCm39) N16T probably benign Het
Trpm7 T C 2: 126,665,906 (GRCm39) K900R probably benign Het
Tspoap1 T A 11: 87,668,839 (GRCm39) C1371S probably benign Het
Tssk5 A G 15: 76,257,156 (GRCm39) M242T possibly damaging Het
Ubn2 A G 6: 38,460,079 (GRCm39) I607V probably benign Het
Ubr2 A T 17: 47,284,865 (GRCm39) V551E probably benign Het
Vipr2 A G 12: 116,058,344 (GRCm39) N87S probably damaging Het
Vmn2r18 T A 5: 151,485,132 (GRCm39) K787N probably damaging Het
Wwc2 A T 8: 48,353,859 (GRCm39) W92R probably damaging Het
Zfp141 A G 7: 42,125,639 (GRCm39) Y278H probably damaging Het
Zfp827 T C 8: 79,844,887 (GRCm39) S686P 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
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
R9278:Ankrd12 UTSW 17 66,344,599 (GRCm39) missense possibly damaging 0.81
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'- GGCGTCTCCCATGATTTACTTGG -3'
(R):5'- AGTGTGCCATCTCAGGTCATC -3'

Sequencing Primer
(F):5'- GAATCACTCCAACCTGATTAGACGG -3'
(R):5'- CATCTCAGGTCATCTTCTGTGG -3'
Posted On 2022-04-18