Incidental Mutation 'R0051:Ankrd11'
ID 64297
Institutional Source Beutler Lab
Gene Symbol Ankrd11
Ensembl Gene ENSMUSG00000035569
Gene Name ankyrin repeat domain 11
Synonyms Yod, 3010027A04Rik, 2410104C19Rik, 9530048I21Rik
MMRRC Submission 038345-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0051 (G1)
Quality Score 83
Status Validated
Chromosome 8
Chromosomal Location 123610561-123769016 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 123616481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 2457 (C2457F)
Ref Sequence ENSEMBL: ENSMUSP00000095938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098333] [ENSMUST00000098334] [ENSMUST00000127664] [ENSMUST00000172906]
AlphaFold E9Q4F7
Predicted Effect probably damaging
Transcript: ENSMUST00000098333
AA Change: C2457F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095938
Gene: ENSMUSG00000035569
AA Change: C2457F

DomainStartEndE-ValueType
ANK 188 217 2.58e-3 SMART
ANK 221 250 1.31e-4 SMART
ANK 254 283 5.04e-6 SMART
low complexity region 311 324 N/A INTRINSIC
low complexity region 366 377 N/A INTRINSIC
low complexity region 429 440 N/A INTRINSIC
low complexity region 470 487 N/A INTRINSIC
low complexity region 499 521 N/A INTRINSIC
low complexity region 534 549 N/A INTRINSIC
low complexity region 596 609 N/A INTRINSIC
low complexity region 649 669 N/A INTRINSIC
coiled coil region 786 826 N/A INTRINSIC
low complexity region 867 877 N/A INTRINSIC
low complexity region 965 984 N/A INTRINSIC
low complexity region 1040 1055 N/A INTRINSIC
low complexity region 1058 1082 N/A INTRINSIC
low complexity region 1187 1200 N/A INTRINSIC
low complexity region 1204 1227 N/A INTRINSIC
low complexity region 1268 1289 N/A INTRINSIC
low complexity region 1294 1306 N/A INTRINSIC
coiled coil region 1374 1406 N/A INTRINSIC
low complexity region 1476 1496 N/A INTRINSIC
low complexity region 1508 1523 N/A INTRINSIC
low complexity region 1526 1547 N/A INTRINSIC
coiled coil region 1598 1625 N/A INTRINSIC
low complexity region 1770 1781 N/A INTRINSIC
low complexity region 1874 1885 N/A INTRINSIC
low complexity region 1913 1922 N/A INTRINSIC
low complexity region 1969 1979 N/A INTRINSIC
low complexity region 2035 2045 N/A INTRINSIC
low complexity region 2057 2071 N/A INTRINSIC
low complexity region 2162 2179 N/A INTRINSIC
low complexity region 2191 2209 N/A INTRINSIC
low complexity region 2224 2236 N/A INTRINSIC
low complexity region 2250 2263 N/A INTRINSIC
low complexity region 2294 2305 N/A INTRINSIC
low complexity region 2391 2409 N/A INTRINSIC
low complexity region 2445 2455 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098334
AA Change: C2436F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095939
Gene: ENSMUSG00000035569
AA Change: C2436F

DomainStartEndE-ValueType
ANK 167 196 2.58e-3 SMART
ANK 200 229 1.31e-4 SMART
ANK 233 262 5.04e-6 SMART
low complexity region 290 303 N/A INTRINSIC
low complexity region 345 356 N/A INTRINSIC
low complexity region 408 419 N/A INTRINSIC
low complexity region 449 466 N/A INTRINSIC
low complexity region 478 500 N/A INTRINSIC
low complexity region 513 528 N/A INTRINSIC
low complexity region 575 588 N/A INTRINSIC
low complexity region 628 648 N/A INTRINSIC
coiled coil region 765 805 N/A INTRINSIC
low complexity region 846 856 N/A INTRINSIC
low complexity region 944 963 N/A INTRINSIC
low complexity region 1019 1034 N/A INTRINSIC
low complexity region 1037 1061 N/A INTRINSIC
low complexity region 1166 1179 N/A INTRINSIC
low complexity region 1183 1206 N/A INTRINSIC
low complexity region 1247 1268 N/A INTRINSIC
low complexity region 1273 1285 N/A INTRINSIC
coiled coil region 1353 1385 N/A INTRINSIC
low complexity region 1455 1475 N/A INTRINSIC
low complexity region 1487 1502 N/A INTRINSIC
low complexity region 1505 1526 N/A INTRINSIC
coiled coil region 1577 1604 N/A INTRINSIC
low complexity region 1749 1760 N/A INTRINSIC
low complexity region 1853 1864 N/A INTRINSIC
low complexity region 1892 1901 N/A INTRINSIC
low complexity region 1948 1958 N/A INTRINSIC
low complexity region 2014 2024 N/A INTRINSIC
low complexity region 2036 2050 N/A INTRINSIC
low complexity region 2141 2158 N/A INTRINSIC
low complexity region 2170 2188 N/A INTRINSIC
low complexity region 2203 2215 N/A INTRINSIC
low complexity region 2229 2242 N/A INTRINSIC
low complexity region 2273 2284 N/A INTRINSIC
low complexity region 2370 2388 N/A INTRINSIC
low complexity region 2424 2434 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212728
Meta Mutation Damage Score 0.9042 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,278,526 (GRCm39) noncoding transcript Het
Abr T A 11: 76,363,328 (GRCm39) Q163L probably benign Het
Anks3 G C 16: 4,765,613 (GRCm39) T163S probably benign Het
Cacna1d G A 14: 29,833,052 (GRCm39) P908S probably damaging Het
Ccdc146 C A 5: 21,521,902 (GRCm39) R374L possibly damaging Het
Cdc45 G T 16: 18,613,524 (GRCm39) A348E probably damaging Het
Cfap46 A G 7: 139,255,951 (GRCm39) C300R probably damaging Het
Cimap1a C A 7: 140,430,134 (GRCm39) probably benign Het
Coq2 T C 5: 100,811,551 (GRCm39) N146S probably benign Het
Dalrd3 T C 9: 108,449,414 (GRCm39) V120A possibly damaging Het
Dcp2 T A 18: 44,538,441 (GRCm39) probably benign Het
Ddx39a A G 8: 84,447,251 (GRCm39) K137R possibly damaging Het
Diaph3 A G 14: 87,274,890 (GRCm39) probably null Het
Dmbt1 G T 7: 130,721,225 (GRCm39) R1668L possibly damaging Het
Dnah7a T G 1: 53,560,245 (GRCm39) probably benign Het
Dpp7 A G 2: 25,246,107 (GRCm39) Y49H possibly damaging Het
Drd5 A G 5: 38,477,957 (GRCm39) S317G probably benign Het
Ecpas A G 4: 58,832,729 (GRCm39) L877S probably damaging Het
Ecsit C T 9: 21,987,584 (GRCm39) V152I probably benign Het
Eeig1 G A 2: 32,448,065 (GRCm39) R58Q possibly damaging Het
Emc1 T A 4: 139,102,474 (GRCm39) M923K possibly damaging Het
Fcrl6 A T 1: 172,426,320 (GRCm39) L159Q probably benign Het
Frrs1 T C 3: 116,678,946 (GRCm39) probably benign Het
Hspd1 A G 1: 55,121,205 (GRCm39) probably benign Het
Impg2 T A 16: 56,078,411 (GRCm39) S458T probably damaging Het
Klf17 T C 4: 117,617,589 (GRCm39) Y256C probably damaging Het
Lnx2 A G 5: 146,966,163 (GRCm39) F319L probably damaging Het
Mafg G T 11: 120,520,430 (GRCm39) R57S probably damaging Het
Med13l T A 5: 118,880,720 (GRCm39) W1271R probably damaging Het
Mrgprb1 A G 7: 48,096,962 (GRCm39) S24P probably benign Het
Mtrf1l T C 10: 5,763,384 (GRCm39) E315G probably damaging Het
Naip1 T C 13: 100,547,509 (GRCm39) E1239G probably damaging Het
Ncaph2 T C 15: 89,253,867 (GRCm39) S320P probably damaging Het
Nek11 A G 9: 105,095,738 (GRCm39) probably benign Het
Nlrp2 A T 7: 5,325,333 (GRCm39) probably benign Het
Rbm26 A C 14: 105,389,976 (GRCm39) V216G possibly damaging Het
Rnf115 A G 3: 96,692,338 (GRCm39) D178G probably damaging Het
Rtel1 C T 2: 180,992,449 (GRCm39) Q424* probably null Het
Rwdd4a A G 8: 47,990,400 (GRCm39) probably benign Het
Ryr3 T C 2: 112,699,420 (GRCm39) D890G probably damaging Het
Scarb1 C A 5: 125,358,164 (GRCm39) probably null Het
Serpina10 A G 12: 103,593,156 (GRCm39) probably benign Het
Slc12a5 T A 2: 164,828,583 (GRCm39) W508R probably damaging Het
Slc43a2 T C 11: 75,453,676 (GRCm39) C225R probably damaging Het
Slc6a9 T C 4: 117,722,056 (GRCm39) F440L probably damaging Het
Stac3 G A 10: 127,344,017 (GRCm39) R305H probably damaging Het
Stk32b A G 5: 37,616,940 (GRCm39) probably benign Het
Syna A T 5: 134,588,397 (GRCm39) L184H probably damaging Het
Tmprss7 T C 16: 45,494,302 (GRCm39) N401S probably damaging Het
Tut4 T G 4: 108,384,201 (GRCm39) S1089R probably damaging Het
Yeats2 T A 16: 20,012,474 (GRCm39) Y557* probably null Het
Zfp352 T C 4: 90,112,522 (GRCm39) S221P probably damaging Het
Zfp575 A G 7: 24,285,512 (GRCm39) V43A probably benign Het
Zfp775 A G 6: 48,597,706 (GRCm39) T527A probably benign Het
Other mutations in Ankrd11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Ankrd11 APN 8 123,635,467 (GRCm39) missense possibly damaging 0.59
IGL00971:Ankrd11 APN 8 123,622,092 (GRCm39) missense probably damaging 1.00
IGL01017:Ankrd11 APN 8 123,621,467 (GRCm39) missense probably damaging 1.00
IGL01137:Ankrd11 APN 8 123,611,075 (GRCm39) missense probably damaging 0.99
IGL01659:Ankrd11 APN 8 123,622,110 (GRCm39) missense probably damaging 1.00
IGL01920:Ankrd11 APN 8 123,642,636 (GRCm39) splice site probably benign
IGL01964:Ankrd11 APN 8 123,616,475 (GRCm39) missense probably damaging 0.97
IGL02131:Ankrd11 APN 8 123,621,149 (GRCm39) missense probably damaging 1.00
IGL02226:Ankrd11 APN 8 123,618,984 (GRCm39) missense probably damaging 1.00
IGL02549:Ankrd11 APN 8 123,618,032 (GRCm39) missense probably damaging 1.00
IGL02642:Ankrd11 APN 8 123,617,390 (GRCm39) missense probably damaging 1.00
IGL02643:Ankrd11 APN 8 123,619,061 (GRCm39) missense probably damaging 0.98
IGL02861:Ankrd11 APN 8 123,622,566 (GRCm39) missense probably damaging 0.99
IGL03086:Ankrd11 APN 8 123,621,249 (GRCm39) missense probably damaging 1.00
IGL03336:Ankrd11 APN 8 123,618,582 (GRCm39) missense probably benign 0.00
anchors UTSW 8 123,622,509 (GRCm39) missense probably damaging 0.99
away UTSW 8 123,618,692 (GRCm39) missense probably damaging 1.00
bluebell UTSW 8 123,618,524 (GRCm39) missense probably damaging 0.97
Navy UTSW 8 123,635,473 (GRCm39) nonsense probably null
BB001:Ankrd11 UTSW 8 123,622,641 (GRCm39) missense possibly damaging 0.95
BB011:Ankrd11 UTSW 8 123,622,641 (GRCm39) missense possibly damaging 0.95
R0051:Ankrd11 UTSW 8 123,616,481 (GRCm39) missense probably damaging 1.00
R0110:Ankrd11 UTSW 8 123,618,914 (GRCm39) missense possibly damaging 0.95
R0281:Ankrd11 UTSW 8 123,622,307 (GRCm39) missense probably benign 0.01
R0450:Ankrd11 UTSW 8 123,618,914 (GRCm39) missense possibly damaging 0.95
R0481:Ankrd11 UTSW 8 123,626,775 (GRCm39) missense probably damaging 1.00
R0542:Ankrd11 UTSW 8 123,622,509 (GRCm39) missense probably damaging 0.99
R0606:Ankrd11 UTSW 8 123,619,571 (GRCm39) missense probably benign 0.04
R0702:Ankrd11 UTSW 8 123,616,505 (GRCm39) missense probably damaging 1.00
R0730:Ankrd11 UTSW 8 123,618,692 (GRCm39) missense probably damaging 1.00
R0737:Ankrd11 UTSW 8 123,622,575 (GRCm39) missense probably damaging 0.99
R1401:Ankrd11 UTSW 8 123,619,789 (GRCm39) missense probably benign 0.23
R1464:Ankrd11 UTSW 8 123,619,463 (GRCm39) missense probably damaging 1.00
R1464:Ankrd11 UTSW 8 123,619,463 (GRCm39) missense probably damaging 1.00
R1470:Ankrd11 UTSW 8 123,626,463 (GRCm39) missense probably damaging 0.98
R1470:Ankrd11 UTSW 8 123,626,463 (GRCm39) missense probably damaging 0.98
R1641:Ankrd11 UTSW 8 123,618,485 (GRCm39) missense probably benign 0.03
R1950:Ankrd11 UTSW 8 123,616,608 (GRCm39) missense probably damaging 1.00
R2004:Ankrd11 UTSW 8 123,629,161 (GRCm39) critical splice donor site probably null
R2401:Ankrd11 UTSW 8 123,635,473 (GRCm39) nonsense probably null
R2425:Ankrd11 UTSW 8 123,619,902 (GRCm39) missense possibly damaging 0.86
R2830:Ankrd11 UTSW 8 123,618,935 (GRCm39) missense probably damaging 1.00
R2910:Ankrd11 UTSW 8 123,635,537 (GRCm39) missense probably damaging 1.00
R2911:Ankrd11 UTSW 8 123,635,537 (GRCm39) missense probably damaging 1.00
R3736:Ankrd11 UTSW 8 123,618,524 (GRCm39) missense probably damaging 0.97
R3738:Ankrd11 UTSW 8 123,623,454 (GRCm39) unclassified probably benign
R3739:Ankrd11 UTSW 8 123,623,454 (GRCm39) unclassified probably benign
R3813:Ankrd11 UTSW 8 123,618,117 (GRCm39) missense probably benign
R4012:Ankrd11 UTSW 8 123,619,156 (GRCm39) missense probably damaging 0.98
R4183:Ankrd11 UTSW 8 123,626,415 (GRCm39) missense possibly damaging 0.88
R4213:Ankrd11 UTSW 8 123,617,765 (GRCm39) missense probably benign 0.00
R4469:Ankrd11 UTSW 8 123,623,326 (GRCm39) missense probably damaging 1.00
R4482:Ankrd11 UTSW 8 123,620,228 (GRCm39) missense probably damaging 1.00
R4935:Ankrd11 UTSW 8 123,626,922 (GRCm39) missense probably benign 0.02
R4940:Ankrd11 UTSW 8 123,616,560 (GRCm39) missense probably damaging 1.00
R5145:Ankrd11 UTSW 8 123,617,943 (GRCm39) utr 3 prime probably benign
R5154:Ankrd11 UTSW 8 123,619,878 (GRCm39) missense probably damaging 1.00
R5230:Ankrd11 UTSW 8 123,617,216 (GRCm39) missense probably benign 0.11
R5283:Ankrd11 UTSW 8 123,610,921 (GRCm39) missense probably damaging 1.00
R5377:Ankrd11 UTSW 8 123,620,453 (GRCm39) splice site probably null
R5513:Ankrd11 UTSW 8 123,619,259 (GRCm39) missense probably benign 0.38
R5518:Ankrd11 UTSW 8 123,617,733 (GRCm39) missense possibly damaging 0.93
R5549:Ankrd11 UTSW 8 123,617,117 (GRCm39) missense probably benign 0.02
R5579:Ankrd11 UTSW 8 123,610,970 (GRCm39) missense probably damaging 0.97
R5595:Ankrd11 UTSW 8 123,621,043 (GRCm39) nonsense probably null
R5650:Ankrd11 UTSW 8 123,614,136 (GRCm39) missense probably damaging 0.99
R5717:Ankrd11 UTSW 8 123,619,377 (GRCm39) missense possibly damaging 0.92
R5753:Ankrd11 UTSW 8 123,622,043 (GRCm39) missense possibly damaging 0.90
R5782:Ankrd11 UTSW 8 123,626,756 (GRCm39) missense probably damaging 1.00
R5812:Ankrd11 UTSW 8 123,620,544 (GRCm39) splice site probably null
R5823:Ankrd11 UTSW 8 123,622,529 (GRCm39) missense probably benign 0.12
R5900:Ankrd11 UTSW 8 123,617,805 (GRCm39) missense probably benign 0.00
R5975:Ankrd11 UTSW 8 123,616,488 (GRCm39) missense possibly damaging 0.93
R5979:Ankrd11 UTSW 8 123,619,139 (GRCm39) missense probably damaging 1.00
R6000:Ankrd11 UTSW 8 123,617,934 (GRCm39) missense possibly damaging 0.73
R6145:Ankrd11 UTSW 8 123,619,400 (GRCm39) missense probably damaging 1.00
R6252:Ankrd11 UTSW 8 123,620,561 (GRCm39) missense possibly damaging 0.87
R6302:Ankrd11 UTSW 8 123,616,728 (GRCm39) missense probably benign
R6457:Ankrd11 UTSW 8 123,635,503 (GRCm39) missense probably damaging 1.00
R6513:Ankrd11 UTSW 8 123,616,919 (GRCm39) missense probably benign 0.02
R6582:Ankrd11 UTSW 8 123,618,368 (GRCm39) missense probably benign 0.00
R6738:Ankrd11 UTSW 8 123,618,660 (GRCm39) missense probably damaging 0.99
R6865:Ankrd11 UTSW 8 123,621,683 (GRCm39) missense probably benign 0.41
R6913:Ankrd11 UTSW 8 123,621,650 (GRCm39) missense probably benign 0.01
R7101:Ankrd11 UTSW 8 123,622,194 (GRCm39) missense probably benign 0.35
R7116:Ankrd11 UTSW 8 123,622,869 (GRCm39) missense probably damaging 1.00
R7477:Ankrd11 UTSW 8 123,621,124 (GRCm39) missense possibly damaging 0.91
R7534:Ankrd11 UTSW 8 123,621,149 (GRCm39) missense probably damaging 1.00
R7555:Ankrd11 UTSW 8 123,614,145 (GRCm39) missense probably damaging 0.99
R7627:Ankrd11 UTSW 8 123,617,690 (GRCm39) missense possibly damaging 0.63
R7658:Ankrd11 UTSW 8 123,620,403 (GRCm39) missense probably benign
R7721:Ankrd11 UTSW 8 123,621,498 (GRCm39) missense probably damaging 1.00
R7731:Ankrd11 UTSW 8 123,622,172 (GRCm39) missense probably benign 0.12
R7792:Ankrd11 UTSW 8 123,610,970 (GRCm39) missense probably damaging 0.97
R7924:Ankrd11 UTSW 8 123,622,641 (GRCm39) missense possibly damaging 0.95
R7939:Ankrd11 UTSW 8 123,617,812 (GRCm39) missense probably damaging 1.00
R8022:Ankrd11 UTSW 8 123,614,332 (GRCm39) missense probably damaging 1.00
R8222:Ankrd11 UTSW 8 123,622,347 (GRCm39) missense probably damaging 0.98
R8362:Ankrd11 UTSW 8 123,618,797 (GRCm39) missense probably damaging 0.96
R8430:Ankrd11 UTSW 8 123,620,105 (GRCm39) missense probably benign 0.01
R8511:Ankrd11 UTSW 8 123,626,468 (GRCm39) missense
R8726:Ankrd11 UTSW 8 123,620,765 (GRCm39) missense possibly damaging 0.90
R8888:Ankrd11 UTSW 8 123,621,014 (GRCm39) missense possibly damaging 0.87
R8895:Ankrd11 UTSW 8 123,621,014 (GRCm39) missense possibly damaging 0.87
R8928:Ankrd11 UTSW 8 123,622,718 (GRCm39) missense probably damaging 0.99
R8930:Ankrd11 UTSW 8 123,622,718 (GRCm39) missense probably damaging 0.99
R8931:Ankrd11 UTSW 8 123,622,718 (GRCm39) missense probably damaging 0.99
R8936:Ankrd11 UTSW 8 123,621,840 (GRCm39) missense possibly damaging 0.69
R9018:Ankrd11 UTSW 8 123,622,251 (GRCm39) missense probably damaging 1.00
R9113:Ankrd11 UTSW 8 123,614,072 (GRCm39) missense possibly damaging 0.60
R9399:Ankrd11 UTSW 8 123,618,179 (GRCm39) missense probably benign
R9644:Ankrd11 UTSW 8 123,617,682 (GRCm39) missense probably benign 0.00
R9645:Ankrd11 UTSW 8 123,617,682 (GRCm39) missense probably benign 0.00
R9647:Ankrd11 UTSW 8 123,617,682 (GRCm39) missense probably benign 0.00
R9683:Ankrd11 UTSW 8 123,617,682 (GRCm39) missense probably benign 0.00
RF019:Ankrd11 UTSW 8 123,623,373 (GRCm39) missense probably damaging 1.00
Z1176:Ankrd11 UTSW 8 123,622,542 (GRCm39) missense possibly damaging 0.68
Z1177:Ankrd11 UTSW 8 123,626,881 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGAATGTCACTGCCTCCTGACC -3'
(R):5'- GGAAGAAGTTCCTCAGCGTATGACC -3'

Sequencing Primer
(F):5'- GCCTCCTGACCACACTG -3'
(R):5'- TATGACCAGGAACCGTGCC -3'
Posted On 2013-08-06