Incidental Mutation 'R7896:Ankrd12'
ID 609722
Institutional Source Beutler Lab
Gene Symbol Ankrd12
Ensembl Gene ENSMUSG00000034647
Gene Name ankyrin repeat domain 12
Synonyms GAC-1, ANCO-2, 2900001A12Rik
MMRRC Submission 045948-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # R7896 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 66272693-66384084 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 66292680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 918 (R918*)
Ref Sequence ENSEMBL: ENSMUSP00000039035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038116] [ENSMUST00000150766]
AlphaFold G5E893
Predicted Effect probably null
Transcript: ENSMUST00000038116
AA Change: R918*
SMART Domains Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: R918*

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (82/83)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,840,792 (GRCm39) T894A probably damaging Het
Abcc10 T A 17: 46,635,235 (GRCm39) H256L probably benign Het
Abcc6 A G 7: 45,626,803 (GRCm39) L1418P probably damaging Het
Actn2 G A 13: 12,309,203 (GRCm39) A290V possibly damaging Het
Actrt2 A T 4: 154,751,652 (GRCm39) D161E probably benign Het
Adam19 T A 11: 46,028,370 (GRCm39) C668S probably damaging Het
Alg8 T C 7: 97,040,123 (GRCm39) L435S probably damaging Het
Amz2 G A 11: 109,327,413 (GRCm39) E322K possibly damaging Het
Atp5pb A G 3: 105,863,259 (GRCm39) I59T probably damaging Het
Bach1 T A 16: 87,515,893 (GRCm39) C145S possibly damaging Het
Bcl6b G T 11: 70,117,848 (GRCm39) S309* probably null Het
Birc6 G T 17: 74,929,077 (GRCm39) R2323L probably damaging Het
Catspere2 A T 1: 177,938,740 (GRCm39) M538L probably benign Het
Ccdc154 A T 17: 25,390,800 (GRCm39) M647L probably benign Het
Cdc14a T C 3: 116,088,482 (GRCm39) T447A probably benign Het
Chst9 C T 18: 15,585,846 (GRCm39) R239H probably damaging Het
Cs C T 10: 128,189,004 (GRCm39) A171V probably damaging Het
D3Ertd751e T A 3: 41,710,508 (GRCm39) F107I probably benign Het
D430041D05Rik T C 2: 104,088,385 (GRCm39) D197G probably benign Het
Dcdc2c G A 12: 28,520,619 (GRCm39) Q486* probably null Het
Dolk A T 2: 30,175,961 (GRCm39) V28E possibly damaging Het
Dpf2 C T 19: 5,954,333 (GRCm39) S191N probably benign Het
Eml3 T A 19: 8,911,171 (GRCm39) F267I possibly damaging Het
Entrep2 T C 7: 64,426,557 (GRCm39) H232R probably damaging Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Foxo3 T C 10: 42,073,732 (GRCm39) S262G possibly damaging Het
Gm1527 T G 3: 28,975,742 (GRCm39) probably null Het
Gm49380 G A 9: 44,024,096 (GRCm39) L51F probably damaging Het
Gm9195 A T 14: 72,693,178 (GRCm39) H1582Q unknown Het
Grip1 A G 10: 119,814,450 (GRCm39) Q327R possibly damaging Het
Gstt1 A G 10: 75,619,976 (GRCm39) F207S probably damaging Het
Itsn1 G A 16: 91,615,446 (GRCm39) R397H unknown Het
Kif16b A G 2: 142,675,995 (GRCm39) probably null Het
Kif5a A G 10: 127,077,873 (GRCm39) V407A probably benign Het
Lrrc57 C A 2: 120,438,372 (GRCm39) D134Y probably damaging Het
Map1a A G 2: 121,135,657 (GRCm39) T2158A probably benign Het
Mink1 A G 11: 70,503,108 (GRCm39) N1068S possibly damaging Het
Mmp8 A T 9: 7,564,978 (GRCm39) I295F probably damaging Het
Muc21 G A 17: 35,930,917 (GRCm39) P1090S unknown Het
Mup18 G T 4: 61,590,925 (GRCm39) probably null Het
Myo1h G T 5: 114,474,372 (GRCm39) probably null Het
Nap1l5 C T 6: 58,883,505 (GRCm39) G52S probably damaging Het
Npr3 A G 15: 11,883,448 (GRCm39) F327S probably damaging Het
Nrxn2 C A 19: 6,582,083 (GRCm39) Q1673K possibly damaging Het
Or13a20 G T 7: 140,232,814 (GRCm39) L307F probably benign Het
Or2r3 T A 6: 42,449,100 (GRCm39) D4V probably benign Het
Paf1 T C 7: 28,096,072 (GRCm39) Y260H probably damaging Het
Pcmtd2 T C 2: 181,496,776 (GRCm39) I251T probably damaging Het
Pde9a C T 17: 31,678,941 (GRCm39) Q261* probably null Het
Ppip5k1 T C 2: 121,177,811 (GRCm39) D332G probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ppp1r36 A G 12: 76,474,923 (GRCm39) probably null Het
Pprc1 T C 19: 46,049,888 (GRCm39) L67P unknown Het
Prkdc T G 16: 15,526,767 (GRCm39) L1346R probably damaging Het
Prl7c1 A T 13: 27,962,070 (GRCm39) M79K possibly damaging Het
Ptprb C T 10: 116,205,362 (GRCm39) probably null Het
R3hdm1 T A 1: 128,096,703 (GRCm39) probably null Het
Ralgapa1 A G 12: 55,744,663 (GRCm39) V1276A probably benign Het
Rapsn T C 2: 90,875,300 (GRCm39) L361P probably benign Het
Rbm22 G T 18: 60,702,505 (GRCm39) A275S probably benign Het
Rsph3a A G 17: 8,164,940 (GRCm39) Y100C probably damaging Het
Rsrp1 A T 4: 134,651,274 (GRCm39) M13L unknown Het
Rtn4 T G 11: 29,655,536 (GRCm39) D169E probably damaging Het
Setd7 C A 3: 51,444,077 (GRCm39) probably null Het
Slc38a2 A G 15: 96,591,466 (GRCm39) I206T probably damaging Het
Slc9a8 T C 2: 167,307,278 (GRCm39) F321L probably benign Het
Sppl2c A G 11: 104,077,956 (GRCm39) D252G possibly damaging Het
Srgap1 CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC 10: 121,689,458 (GRCm39) probably benign Het
Syne2 A G 12: 76,082,397 (GRCm39) T117A probably damaging Het
Szt2 A T 4: 118,260,110 (GRCm39) F79I possibly damaging Het
Tlr3 T A 8: 45,850,090 (GRCm39) K860* probably null Het
Ttn T C 2: 76,625,018 (GRCm39) S15187G probably benign Het
Ubr5 A G 15: 38,041,817 (GRCm39) V204A probably benign Het
Unc5c A T 3: 141,476,922 (GRCm39) T363S possibly damaging Het
Usp40 G A 1: 87,906,201 (GRCm39) T678I possibly damaging Het
Vmn1r62 A T 7: 5,678,609 (GRCm39) T97S probably damaging Het
Vmn1r85 T A 7: 12,818,448 (GRCm39) H232L probably benign Het
Vmn2r67 A G 7: 84,785,920 (GRCm39) I695T probably damaging Het
Zfp383 C A 7: 29,611,626 (GRCm39) D35E probably damaging Het
Zfp65 A T 13: 67,877,174 (GRCm39) probably null Het
Zfp692 A G 11: 58,205,062 (GRCm39) K437R probably damaging Het
Zfp831 A T 2: 174,488,921 (GRCm39) T1199S possibly damaging Het
Zfr T A 15: 12,146,463 (GRCm39) I338N 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
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'- GCTGGGTTTTACCACTGCTG -3'
(R):5'- AAGCTGGATTTCAGTGACTGC -3'

Sequencing Primer
(F):5'- ACTGCTGTCTCCTGTACTGGAC -3'
(R):5'- GGACAAGCTGTACTCACACCAG -3'
Posted On 2019-12-20