Incidental Mutation 'R9069:Ankrd12'
ID 689463
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 # R9069 (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 66356874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 48 (M48L)
Ref Sequence ENSEMBL: ENSMUSP00000114237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038116] [ENSMUST00000150766]
AlphaFold G5E893
Predicted Effect probably benign
Transcript: ENSMUST00000038116
AA Change: M48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039035
Gene: ENSMUSG00000034647
AA Change: M48L

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
AA Change: M48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114237
Gene: ENSMUSG00000034647
AA Change: M48L

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: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (78/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T A 17: 45,818,523 (GRCm39) C103S probably damaging Het
Adamts20 T C 15: 94,236,349 (GRCm39) S841G probably benign Het
Add3 T A 19: 53,222,332 (GRCm39) V313E possibly damaging Het
Ahr G T 12: 35,562,771 (GRCm39) probably benign Het
Apaf1 A C 10: 90,859,580 (GRCm39) probably null Het
Bank1 T C 3: 135,989,772 (GRCm39) H106R probably benign Het
Birc6 A G 17: 74,868,260 (GRCm39) probably benign Het
Castor1 A G 11: 4,170,141 (GRCm39) E73G probably benign Het
Ccdc170 C T 10: 4,511,016 (GRCm39) H692Y possibly damaging Het
Cd93 A G 2: 148,284,071 (GRCm39) I425T probably benign Het
Celsr1 A C 15: 85,914,772 (GRCm39) L1067R possibly damaging Het
Clca3a2 A T 3: 144,519,447 (GRCm39) probably benign Het
Col14a1 T C 15: 55,251,990 (GRCm39) S549P unknown Het
Col6a4 A G 9: 105,952,138 (GRCm39) S587P possibly damaging Het
Crebbp C A 16: 3,903,187 (GRCm39) M2017I probably benign Het
Crybg1 A C 10: 43,874,103 (GRCm39) F1002V probably benign Het
Ctif T C 18: 75,654,458 (GRCm39) E356G probably damaging Het
Dbx2 T C 15: 95,530,239 (GRCm39) K243E probably damaging Het
Dgkh C T 14: 78,853,957 (GRCm39) V394I probably damaging Het
Dnaja4 T A 9: 54,621,638 (GRCm39) M321K probably benign Het
Dock9 T C 14: 121,866,324 (GRCm39) N593S probably damaging Het
Dot1l T A 10: 80,626,560 (GRCm39) S1260R probably damaging Het
Eea1 A T 10: 95,831,510 (GRCm39) L200F probably damaging Het
Elp2 T G 18: 24,765,833 (GRCm39) F658V probably benign Het
Fbxw15 G A 9: 109,394,468 (GRCm39) Q116* probably null Het
Fstl5 A T 3: 76,615,416 (GRCm39) N826Y probably damaging Het
Galp T C 7: 6,214,347 (GRCm39) S60P possibly damaging Het
Gm7298 G T 6: 121,761,393 (GRCm39) M1316I probably benign Het
Gsdmc T C 15: 63,649,902 (GRCm39) M330V probably benign Het
Hectd2 T C 19: 36,562,862 (GRCm39) F175L probably benign Het
Hmbs A G 9: 44,248,102 (GRCm39) I318T possibly damaging Het
Ifi205 T C 1: 173,855,841 (GRCm39) D63G probably benign Het
Il10ra T A 9: 45,167,396 (GRCm39) Q387L probably damaging Het
Kcnj14 C A 7: 45,469,388 (GRCm39) G39V probably benign Het
Kpna1 T C 16: 35,836,381 (GRCm39) probably benign Het
Lrp2 A T 2: 69,331,996 (GRCm39) D1586E probably damaging Het
Lrrc45 A G 11: 120,607,947 (GRCm39) I243V probably benign Het
Lrrc7 T C 3: 157,946,138 (GRCm39) K187R probably benign Het
Mamdc4 G T 2: 25,453,371 (GRCm39) T1216N probably damaging Het
Map1a A C 2: 121,134,145 (GRCm39) K1654Q probably benign Het
Mta2 G A 19: 8,924,104 (GRCm39) V195M probably damaging Het
Nav2 G T 7: 49,208,561 (GRCm39) R1583L probably damaging Het
Or2y1g A T 11: 49,171,247 (GRCm39) T91S probably benign Het
Or4c112 A T 2: 88,854,308 (GRCm39) L13Q probably damaging Het
Or9i14 T C 19: 13,792,735 (GRCm39) Y73C probably damaging Het
Osbpl1a T A 18: 13,002,074 (GRCm39) probably benign Het
Pcdh17 T C 14: 84,685,084 (GRCm39) V517A possibly damaging Het
Pcdhb14 T A 18: 37,583,157 (GRCm39) C754* probably null Het
Pkd1 T C 17: 24,791,988 (GRCm39) V1225A probably damaging Het
Plekhm3 T C 1: 64,960,802 (GRCm39) N485D probably benign Het
Plekho1 A C 3: 95,902,995 (GRCm39) S14A unknown Het
Ppp2r3d A T 9: 101,090,006 (GRCm39) C106S probably benign Het
Ppp6c A C 2: 39,094,928 (GRCm39) L99R probably damaging Het
Pramel27 A G 4: 143,578,345 (GRCm39) S202G probably benign Het
Prkdc T A 16: 15,653,091 (GRCm39) Y3855* probably null Het
Ptpru A T 4: 131,503,565 (GRCm39) I1155N possibly damaging Het
Reln C T 5: 22,216,059 (GRCm39) G1042D probably damaging Het
Sall4 A G 2: 168,596,773 (GRCm39) V689A probably benign Het
Sec31b C T 19: 44,507,741 (GRCm39) G768S probably damaging Het
Serpinb10 T A 1: 107,474,549 (GRCm39) V237D probably benign Het
Serpinb9 T G 13: 33,199,579 (GRCm39) D291E probably benign Het
Slc12a7 T G 13: 73,954,089 (GRCm39) probably benign Het
Slfn8 A T 11: 82,907,902 (GRCm39) F214I probably damaging Het
Slu7 A T 11: 43,328,952 (GRCm39) D58V probably damaging Het
Smu1 T C 4: 40,745,558 (GRCm39) Y254C probably damaging Het
Snapc4 A T 2: 26,260,805 (GRCm39) Y479* probably null Het
Specc1l A G 10: 75,066,640 (GRCm39) N30D probably benign Het
Spopfm1 A C 3: 94,173,153 (GRCm39) S50R possibly damaging Het
Tbck T C 3: 132,428,130 (GRCm39) probably null Het
Tcf7l1 T C 6: 72,610,259 (GRCm39) Y246C probably damaging Het
Tmem43 C T 6: 91,463,897 (GRCm39) R391W possibly damaging Het
Trav7-1 T G 14: 52,892,566 (GRCm39) S40A possibly damaging Het
Trim45 T A 3: 100,832,440 (GRCm39) Y224* probably null Het
Trio A T 15: 27,852,097 (GRCm39) I798N possibly damaging Het
Trnau1ap A T 4: 132,056,662 (GRCm39) probably null Het
Vmn1r213 T C 13: 23,196,043 (GRCm39) S209P probably damaging Het
Ythdf1 G T 2: 180,552,857 (GRCm39) R453S 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
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'- AGATGCACTTCTGCCACCAG -3'
(R):5'- CTTCCTGCGTATACATGAATATACC -3'

Sequencing Primer
(F):5'- TTCTGCCACCAGGATAAAACTG -3'
(R):5'- TGTGCAGTGCCCAAGTACATC -3'
Posted On 2021-11-19