Incidental Mutation 'R3121:Ankk1'
ID 263231
Institutional Source Beutler Lab
Gene Symbol Ankk1
Ensembl Gene ENSMUSG00000032257
Gene Name ankyrin repeat and kinase domain containing 1
Synonyms 9930020N01Rik
MMRRC Submission 040594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R3121 (G1)
Quality Score 171
Status Validated
Chromosome 9
Chromosomal Location 49326494-49338321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49338267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 9 (L9F)
Ref Sequence ENSEMBL: ENSMUSP00000034792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034792]
AlphaFold Q8BZ25
Predicted Effect probably benign
Transcript: ENSMUST00000034792
AA Change: L9F

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: L9F

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,966,091 (GRCm39) M423K probably benign Het
Adamtsl1 T A 4: 86,255,246 (GRCm39) W780R probably damaging Het
Ago3 A G 4: 126,311,165 (GRCm39) I16T probably benign Het
Amph T A 13: 19,297,316 (GRCm39) L354* probably null Het
Brdt A G 5: 107,525,011 (GRCm39) T851A probably damaging Het
Bzw2 A C 12: 36,170,788 (GRCm39) probably null Het
Capn7 A T 14: 31,081,167 (GRCm39) I395F probably damaging Het
Ccdc146 T C 5: 21,499,591 (GRCm39) R864G possibly damaging Het
Ccdc50 G T 16: 27,228,139 (GRCm39) R102L possibly damaging Het
Cep83 T C 10: 94,622,700 (GRCm39) V592A probably damaging Het
Cgn G A 3: 94,685,792 (GRCm39) probably benign Het
Cidec C A 6: 113,405,086 (GRCm39) V195L probably benign Het
Cntln A G 4: 84,923,289 (GRCm39) probably benign Het
Cntrob A T 11: 69,213,526 (GRCm39) L88* probably null Het
Dnah17 C T 11: 117,931,912 (GRCm39) V3687M probably damaging Het
Dst T C 1: 34,328,729 (GRCm39) I4599T probably damaging Het
Dtl A T 1: 191,285,175 (GRCm39) Y320* probably null Het
Fam98b A G 2: 117,098,408 (GRCm39) T293A probably damaging Het
Farp1 G A 14: 121,460,138 (GRCm39) probably benign Het
Fat2 G T 11: 55,202,622 (GRCm39) P151T probably damaging Het
Fbxl17 A T 17: 63,778,419 (GRCm39) M497K probably damaging Het
Foxn4 T C 5: 114,396,776 (GRCm39) T236A probably damaging Het
Gm525 C T 11: 88,979,374 (GRCm39) probably benign Het
Golga4 C A 9: 118,386,448 (GRCm39) T1190K possibly damaging Het
H2-T23 T A 17: 36,341,855 (GRCm39) M248L probably benign Het
Homez T C 14: 55,094,778 (GRCm39) E310G probably benign Het
Hydin A G 8: 111,233,138 (GRCm39) I1746V probably benign Het
Igkv1-35 T A 6: 69,988,641 (GRCm39) H6L probably benign Het
Kcnt2 T C 1: 140,356,622 (GRCm39) S354P probably damaging Het
Khdc4 A G 3: 88,596,599 (GRCm39) T127A probably damaging Het
Klra4 G T 6: 130,040,141 (GRCm39) Q44K probably benign Het
L3mbtl3 A G 10: 26,220,119 (GRCm39) probably benign Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Magea14 A T X: 51,057,968 (GRCm39) Y239* probably null Het
Map3k9 A G 12: 81,790,698 (GRCm39) I285T probably damaging Het
Or4a47 T A 2: 89,665,858 (GRCm39) I144L probably benign Het
Or6c6 A G 10: 129,186,552 (GRCm39) N40S possibly damaging Het
Pcdhb16 A T 18: 37,611,271 (GRCm39) Q77L possibly damaging Het
Pramel20 T A 4: 143,297,583 (GRCm39) M1K probably null Het
Proser3 A G 7: 30,239,796 (GRCm39) V436A probably benign Het
Relch A G 1: 105,653,524 (GRCm39) N834S probably benign Het
Resf1 T A 6: 149,230,741 (GRCm39) C1262* probably null Het
Sec24b C T 3: 129,795,953 (GRCm39) probably null Het
Slc2a2 A G 3: 28,775,898 (GRCm39) Q336R probably benign Het
Sowahb T C 5: 93,191,261 (GRCm39) D486G possibly damaging Het
Spidr T C 16: 15,958,724 (GRCm39) K13E probably damaging Het
Tiam2 T A 17: 3,489,977 (GRCm39) M786K probably benign Het
Tktl2 T A 8: 66,964,808 (GRCm39) V122E probably damaging Het
Wapl A G 14: 34,451,172 (GRCm39) I729M possibly damaging Het
Zbbx T C 3: 74,989,153 (GRCm39) T317A possibly damaging Het
Zfp976 A G 7: 42,262,938 (GRCm39) C300R probably damaging 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
R1851:Ankk1 UTSW 9 49,327,150 (GRCm39) missense probably benign
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
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'- AGCACTTGATGGCGTACTGG -3'
(R):5'- TCTGACTTCCAGCTGCAAGC -3'

Sequencing Primer
(F):5'- ATGGCGTACTGGGTCCTC -3'
(R):5'- TGCAAGCACAGCTCTGG -3'
Posted On 2015-02-05