Incidental Mutation 'IGL03289:Ankk1'
ID 415830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankk1
Ensembl Gene ENSMUSG00000032257
Gene Name ankyrin repeat and kinase domain containing 1
Synonyms 9930020N01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03289
Quality Score
Status
Chromosome 9
Chromosomal Location 49326494-49338321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49326995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 728 (V728A)
Ref Sequence ENSEMBL: ENSMUSP00000034792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034792]
AlphaFold Q8BZ25
Predicted Effect probably benign
Transcript: ENSMUST00000034792
AA Change: V728A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: V728A

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A G 11: 61,768,794 (GRCm39) probably benign Het
Akap9 A G 5: 4,127,261 (GRCm39) Y3703C probably damaging Het
B3galt2 T C 1: 143,523,042 (GRCm39) Y393H probably damaging Het
Clcn4 T A 7: 7,287,257 (GRCm39) I664F probably damaging Het
Clec2e A T 6: 129,075,418 (GRCm39) I41N probably damaging Het
Col2a1 A T 15: 97,878,762 (GRCm39) N845K unknown Het
Cubn T G 2: 13,431,778 (GRCm39) I1272L probably benign Het
Dnajc5 T C 2: 181,189,260 (GRCm39) Y79H probably damaging Het
Eml6 G T 11: 29,745,328 (GRCm39) A1006E possibly damaging Het
Igsf5 A T 16: 96,326,632 (GRCm39) D271V possibly damaging Het
Kalrn G A 16: 34,205,667 (GRCm39) A70V possibly damaging Het
Kcnn2 A T 18: 45,810,111 (GRCm39) K309N probably damaging Het
Lrch4 T C 5: 137,631,839 (GRCm39) S22P probably damaging Het
Mcpt2 A T 14: 56,281,794 (GRCm39) I215F probably damaging Het
Mrc1 T C 2: 14,313,634 (GRCm39) probably null Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Or1l4b C T 2: 37,036,590 (GRCm39) A122V probably damaging Het
Osbp2 A G 11: 3,813,380 (GRCm39) V163A probably benign Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Scart1 T C 7: 139,808,973 (GRCm39) probably null Het
Senp1 G T 15: 97,982,926 (GRCm39) H20Q probably damaging Het
Slc16a6 A G 11: 109,354,325 (GRCm39) Y31H probably damaging Het
Thbs2 T A 17: 14,910,384 (GRCm39) N72Y probably benign Het
Usp34 T A 11: 23,343,818 (GRCm39) S1366T possibly damaging Het
Vmn1r216 T A 13: 23,284,182 (GRCm39) D288E possibly damaging Het
Vmn2r11 T C 5: 109,196,788 (GRCm39) probably benign Het
Vnn3 A T 10: 23,741,735 (GRCm39) S347C possibly damaging Het
Yme1l1 T C 2: 23,050,280 (GRCm39) V37A probably benign Het
Zfp597 A T 16: 3,683,786 (GRCm39) D323E possibly 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
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
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
Posted On 2016-08-02