Incidental Mutation 'R1851:Ankk1'
ID 208097
Institutional Source Beutler Lab
Gene Symbol Ankk1
Ensembl Gene ENSMUSG00000032257
Gene Name ankyrin repeat and kinase domain containing 1
Synonyms 9930020N01Rik
MMRRC Submission 039875-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R1851 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 49326494-49338321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 49327150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 676 (H676Q)
Ref Sequence ENSEMBL: ENSMUSP00000034792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034792]
AlphaFold Q8BZ25
Predicted Effect probably benign
Transcript: ENSMUST00000034792
AA Change: H676Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: H676Q

DomainStartEndE-ValueType
Pfam:Pkinase 35 298 4.1e-44 PFAM
Pfam:Pkinase_Tyr 36 297 7.6e-47 PFAM
ANK 369 398 1.36e-2 SMART
ANK 402 431 4.13e-2 SMART
ANK 435 464 3.51e-5 SMART
ANK 468 497 5.62e-4 SMART
ANK 501 530 5.71e-5 SMART
ANK 534 563 1.05e-3 SMART
ANK 567 596 1.12e-3 SMART
ANK 600 629 6.12e-5 SMART
ANK 633 662 1.59e-3 SMART
ANK 666 695 3.65e-3 SMART
ANK 699 728 8.39e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000216227
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik A G 12: 18,583,687 (GRCm39) E225G possibly damaging Het
Abcb7 T C X: 103,349,005 (GRCm39) M153V probably benign Het
Abi1 A T 2: 22,840,276 (GRCm39) V329D possibly damaging Het
Ablim3 G A 18: 61,982,466 (GRCm39) H160Y probably benign Het
Acox3 A T 5: 35,766,406 (GRCm39) D624V possibly damaging Het
Adam6b A G 12: 113,455,442 (GRCm39) D753G probably benign Het
Ago1 C A 4: 126,333,788 (GRCm39) R771L probably benign Het
Aktip A G 8: 91,852,505 (GRCm39) V217A possibly damaging Het
Arl1 G C 10: 88,569,408 (GRCm39) probably benign Het
Asxl3 T A 18: 22,650,796 (GRCm39) D928E probably damaging Het
AW209491 T C 13: 14,811,318 (GRCm39) V57A possibly damaging Het
B3galt4 G T 17: 34,169,885 (GRCm39) Q118K probably benign Het
Ccdc187 A T 2: 26,166,080 (GRCm39) M783K probably benign Het
Cdon T G 9: 35,394,454 (GRCm39) M900R probably damaging Het
Ceacam5 G A 7: 17,448,835 (GRCm39) W67* probably null Het
Chd5 A G 4: 152,462,727 (GRCm39) S1356G probably damaging Het
Chil3 C T 3: 106,056,117 (GRCm39) probably null Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntn1 C T 15: 92,203,021 (GRCm39) R768C probably damaging Het
Col6a3 T A 1: 90,735,256 (GRCm39) I798F possibly damaging Het
Cpxcr1 T A X: 115,387,758 (GRCm39) L223* probably null Het
Cpz C A 5: 35,659,902 (GRCm39) R581L possibly damaging Het
Cxcr2 A G 1: 74,198,438 (GRCm39) I311V probably benign Het
Cym T A 3: 107,126,030 (GRCm39) I78F probably benign Het
Defb8 A T 8: 19,495,899 (GRCm39) S54T probably benign Het
Dennd4a A G 9: 64,769,312 (GRCm39) T433A probably damaging Het
Dhx29 A G 13: 113,084,815 (GRCm39) T678A probably damaging Het
Dspp T C 5: 104,321,951 (GRCm39) probably null Het
Enkur G T 2: 21,193,988 (GRCm39) A195E probably benign Het
Ero1b T A 13: 12,619,292 (GRCm39) S429T possibly damaging Het
Fh1 A G 1: 175,435,452 (GRCm39) S344P probably damaging Het
Flnc G T 6: 29,443,478 (GRCm39) G553V probably damaging Het
Fmo1 A T 1: 162,657,554 (GRCm39) L529* probably null Het
Frem1 C A 4: 82,868,737 (GRCm39) V1415F probably damaging Het
Gatb T G 3: 85,526,184 (GRCm39) L354R probably damaging Het
Gdpgp1 A T 7: 79,888,349 (GRCm39) N127Y probably damaging Het
Gpat2 A G 2: 127,276,739 (GRCm39) T648A possibly damaging Het
Grk6 C T 13: 55,599,591 (GRCm39) R225* probably null Het
Hells A T 19: 38,948,120 (GRCm39) Q682L probably null Het
Hspa5 T A 2: 34,664,690 (GRCm39) N381K possibly damaging Het
Ighmbp2 T C 19: 3,312,075 (GRCm39) N893S probably benign Het
Ipo11 A T 13: 106,948,765 (GRCm39) V914E possibly damaging Het
Lars1 T C 18: 42,345,673 (GRCm39) N1001S probably benign Het
Lats2 A G 14: 57,934,912 (GRCm39) L606P probably damaging Het
Map4k1 T C 7: 28,699,209 (GRCm39) Y521H probably benign Het
Marchf11 T A 15: 26,387,916 (GRCm39) V257E probably damaging Het
Med23 G A 10: 24,786,768 (GRCm39) probably null Het
Meltf A G 16: 31,715,395 (GRCm39) D696G probably benign Het
Ms4a7 T A 19: 11,301,788 (GRCm39) M212L probably benign Het
Mx1 A T 16: 97,249,403 (GRCm39) L608Q probably damaging Het
Myh1 T C 11: 67,095,224 (GRCm39) Y195H probably damaging Het
Napb G T 2: 148,548,909 (GRCm39) H110Q probably benign Het
Ngly1 C T 14: 16,260,585 (GRCm38) P90S probably damaging Het
Nlrp1b T A 11: 71,073,442 (GRCm39) I134L possibly damaging Het
Nup210 A G 6: 90,993,036 (GRCm39) L1017P probably damaging Het
Nup85 T A 11: 115,472,643 (GRCm39) I233N probably damaging Het
Obsl1 A G 1: 75,469,537 (GRCm39) V965A probably damaging Het
Or4c12 A C 2: 89,774,158 (GRCm39) Y100* probably null Het
Or4f6 T C 2: 111,839,036 (GRCm39) D165G probably benign Het
Or6c5c T C 10: 129,299,370 (GRCm39) L275P probably damaging Het
Pak1ip1 A G 13: 41,164,708 (GRCm39) T264A possibly damaging Het
Pard6g C T 18: 80,160,357 (GRCm39) R157C probably damaging Het
Pcdhb7 A T 18: 37,475,631 (GRCm39) T256S possibly damaging Het
Phrf1 T C 7: 140,820,831 (GRCm39) F153L probably damaging Het
Pigw A T 11: 84,768,874 (GRCm39) F152I probably damaging Het
Pip4k2c A G 10: 127,036,744 (GRCm39) S222P probably damaging Het
Pjvk A G 2: 76,487,775 (GRCm39) probably null Het
Plxnd1 C T 6: 115,940,875 (GRCm39) V1355M probably damaging Het
Pramel26 T C 4: 143,539,396 (GRCm39) I32M probably benign Het
Prss22 G A 17: 24,215,288 (GRCm39) P163S probably damaging Het
Prune2 A G 19: 17,176,503 (GRCm39) I154V probably damaging Het
Rapgef6 T A 11: 54,533,637 (GRCm39) D362E probably benign Het
Retreg2 A G 1: 75,123,319 (GRCm39) K416E probably benign Het
Scn7a T C 2: 66,510,635 (GRCm39) I1256V probably benign Het
Sema4d A G 13: 51,865,258 (GRCm39) V362A possibly damaging Het
Septin4 T A 11: 87,459,741 (GRCm39) D496E probably damaging Het
Slc25a34 G A 4: 141,349,579 (GRCm39) T192I probably benign Het
Tacc3 G T 5: 33,825,544 (GRCm39) V425L probably benign Het
Tfdp2 A T 9: 96,179,762 (GRCm39) K125I probably damaging Het
Tjp2 C T 19: 24,076,899 (GRCm39) R952Q possibly damaging Het
Tk2 G T 8: 104,975,077 (GRCm39) S30* probably null Het
Tmem74 A T 15: 43,730,559 (GRCm39) D161E probably benign Het
Tmprss9 G A 10: 80,728,119 (GRCm39) V570M probably damaging Het
Tnk2 C A 16: 32,498,280 (GRCm39) P26Q probably damaging Het
Tnpo2 T G 8: 85,778,401 (GRCm39) V610G probably damaging Het
Trim37 T C 11: 87,109,132 (GRCm39) F953S probably damaging Het
U2surp T A 9: 95,364,150 (GRCm39) K589* probably null Het
Usp2 G A 9: 43,987,263 (GRCm39) R187H probably benign Het
Vmn2r1 C T 3: 64,008,926 (GRCm39) T535I probably benign Het
Wdr20rt T A 12: 65,273,925 (GRCm39) S463T possibly damaging Het
Zbtb25 C A 12: 76,396,488 (GRCm39) G245W probably damaging Het
Zc3h14 T A 12: 98,726,613 (GRCm39) L27* probably null Het
Zfp2 T C 11: 50,791,915 (GRCm39) K43E probably benign Het
Zfp268 T G 4: 145,350,820 (GRCm39) probably benign Het
Zfp654 A G 16: 64,605,491 (GRCm39) Y904H probably benign Het
Other mutations in Ankk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Ankk1 APN 9 49,333,200 (GRCm39) missense probably benign 0.30
IGL00495:Ankk1 APN 9 49,327,143 (GRCm39) missense probably benign 0.00
IGL01316:Ankk1 APN 9 49,331,784 (GRCm39) unclassified probably benign
IGL01359:Ankk1 APN 9 49,327,328 (GRCm39) missense possibly damaging 0.95
IGL01464:Ankk1 APN 9 49,327,272 (GRCm39) missense probably benign 0.26
IGL01719:Ankk1 APN 9 49,328,081 (GRCm39) missense probably benign 0.08
IGL02057:Ankk1 APN 9 49,328,072 (GRCm39) missense probably damaging 1.00
IGL02549:Ankk1 APN 9 49,329,993 (GRCm39) missense probably damaging 1.00
IGL02690:Ankk1 APN 9 49,333,200 (GRCm39) missense probably damaging 0.99
IGL03083:Ankk1 APN 9 49,333,166 (GRCm39) missense probably benign 0.15
IGL03168:Ankk1 APN 9 49,327,068 (GRCm39) missense possibly damaging 0.89
IGL03289:Ankk1 APN 9 49,326,995 (GRCm39) missense probably benign 0.00
R0319:Ankk1 UTSW 9 49,327,371 (GRCm39) missense probably damaging 0.97
R0539:Ankk1 UTSW 9 49,329,330 (GRCm39) missense probably benign
R0827:Ankk1 UTSW 9 49,333,037 (GRCm39) missense possibly damaging 0.81
R1474:Ankk1 UTSW 9 49,327,139 (GRCm39) missense probably damaging 1.00
R1818:Ankk1 UTSW 9 49,331,725 (GRCm39) missense probably benign 0.06
R2044:Ankk1 UTSW 9 49,330,664 (GRCm39) critical splice donor site probably null
R2088:Ankk1 UTSW 9 49,333,265 (GRCm39) unclassified probably benign
R2353:Ankk1 UTSW 9 49,329,990 (GRCm39) missense probably benign
R2897:Ankk1 UTSW 9 49,333,122 (GRCm39) missense probably benign 0.00
R2898:Ankk1 UTSW 9 49,333,122 (GRCm39) missense probably benign 0.00
R3121:Ankk1 UTSW 9 49,338,267 (GRCm39) missense probably benign 0.21
R3714:Ankk1 UTSW 9 49,333,013 (GRCm39) missense possibly damaging 0.92
R4455:Ankk1 UTSW 9 49,329,366 (GRCm39) missense probably benign 0.00
R4757:Ankk1 UTSW 9 49,327,230 (GRCm39) missense probably benign
R4893:Ankk1 UTSW 9 49,326,983 (GRCm39) missense probably benign 0.00
R5090:Ankk1 UTSW 9 49,333,063 (GRCm39) missense probably damaging 0.98
R5521:Ankk1 UTSW 9 49,331,748 (GRCm39) missense probably benign 0.05
R5812:Ankk1 UTSW 9 49,338,153 (GRCm39) missense probably benign 0.00
R5853:Ankk1 UTSW 9 49,329,995 (GRCm39) missense possibly damaging 0.58
R5873:Ankk1 UTSW 9 49,327,196 (GRCm39) missense probably benign 0.19
R6119:Ankk1 UTSW 9 49,338,183 (GRCm39) missense possibly damaging 0.88
R6328:Ankk1 UTSW 9 49,327,371 (GRCm39) missense possibly damaging 0.84
R6606:Ankk1 UTSW 9 49,327,646 (GRCm39) missense probably benign 0.29
R6689:Ankk1 UTSW 9 49,331,776 (GRCm39) missense probably damaging 1.00
R6745:Ankk1 UTSW 9 49,327,480 (GRCm39) missense probably benign 0.00
R6856:Ankk1 UTSW 9 49,331,320 (GRCm39) missense probably benign 0.39
R7424:Ankk1 UTSW 9 49,330,050 (GRCm39) missense possibly damaging 0.93
R8145:Ankk1 UTSW 9 49,327,097 (GRCm39) missense possibly damaging 0.63
R8683:Ankk1 UTSW 9 49,329,292 (GRCm39) missense
R9776:Ankk1 UTSW 9 49,330,714 (GRCm39) missense probably benign 0.25
Z1176:Ankk1 UTSW 9 49,333,211 (GRCm39) missense probably damaging 1.00
Z1176:Ankk1 UTSW 9 49,327,943 (GRCm39) missense probably benign 0.01
Z1177:Ankk1 UTSW 9 49,327,787 (GRCm39) missense probably damaging 0.97
Z1177:Ankk1 UTSW 9 49,327,244 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACTATGCTCTACTTTGGGCTG -3'
(R):5'- TCATCCATCAGTTGGCCAAGAG -3'

Sequencing Primer
(F):5'- AGGGGTGTGCAGCTAACTC -3'
(R):5'- AGCCATGTAGACCTAGATGCTCTTG -3'
Posted On 2014-06-23