Incidental Mutation 'R2898:Ankk1'
ID 261366
Institutional Source Beutler Lab
Gene Symbol Ankk1
Ensembl Gene ENSMUSG00000032257
Gene Name ankyrin repeat and kinase domain containing 1
Synonyms 9930020N01Rik
MMRRC Submission 040486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R2898 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 49326494-49338321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49333122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 121 (T121S)
Ref Sequence ENSEMBL: ENSMUSP00000034792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034792]
AlphaFold Q8BZ25
Predicted Effect probably benign
Transcript: ENSMUST00000034792
AA Change: T121S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000034792
Gene: ENSMUSG00000032257
AA Change: T121S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik C T X: 77,413,868 (GRCm39) Q198* probably null Het
Acap3 C T 4: 155,987,916 (GRCm39) R547C possibly damaging Het
Acap3 G C 4: 155,989,388 (GRCm39) probably null Het
Adcy6 A G 15: 98,491,369 (GRCm39) S1075P probably damaging Het
Bnc2 T C 4: 84,211,152 (GRCm39) I406V probably damaging Het
Bnipl T A 3: 95,150,360 (GRCm39) H219L probably benign Het
Brwd1 C A 16: 95,867,300 (GRCm39) M178I probably damaging Het
Cep192 T A 18: 67,988,341 (GRCm39) probably null Het
Chd5 T C 4: 152,456,572 (GRCm39) F970L probably damaging Het
Cit A G 5: 116,012,037 (GRCm39) probably null Het
Coq9 T C 8: 95,579,752 (GRCm39) Y236H probably damaging Het
Cxcr2 T C 1: 74,198,130 (GRCm39) V208A probably benign Het
Dnah10 G A 5: 124,894,734 (GRCm39) R3433H probably damaging Het
Dnmt3b G T 2: 153,509,550 (GRCm39) V268L possibly damaging Het
Fbxw21 T C 9: 108,985,404 (GRCm39) T125A possibly damaging Het
Fzd9 T G 5: 135,278,700 (GRCm39) D395A probably damaging Het
Gfm2 T C 13: 97,309,469 (GRCm39) V642A possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Hid1 A G 11: 115,241,356 (GRCm39) S645P probably benign Het
Hmgxb3 C T 18: 61,288,368 (GRCm39) V500M probably benign Het
Hnf1a C T 5: 115,098,106 (GRCm39) W165* probably null Het
Hsd3b1 A T 3: 98,760,623 (GRCm39) C123S probably benign Het
Inpp4a A T 1: 37,405,675 (GRCm39) H148L probably benign Het
Itpr2 C T 6: 146,074,839 (GRCm39) R2338Q probably benign Het
Itpr2 A T 6: 146,224,667 (GRCm39) I1441N probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lmo7 A G 14: 102,114,350 (GRCm39) T31A possibly damaging Het
Lrrc15 C T 16: 30,092,604 (GRCm39) R245H probably benign Het
Lrriq1 T C 10: 103,063,111 (GRCm39) N65S probably damaging Het
Mpp4 T C 1: 59,183,853 (GRCm39) I296V probably benign Het
Myo6 T A 9: 80,176,893 (GRCm39) probably null Het
Myo7a G T 7: 97,703,631 (GRCm39) Y2003* probably null Het
Myo7a T C 7: 97,746,413 (GRCm39) N246D probably damaging Het
Ndrg4 A G 8: 96,405,014 (GRCm39) probably null Het
Neu2 A G 1: 87,522,782 (GRCm39) S72G probably benign Het
Or51g1 T A 7: 102,634,084 (GRCm39) I96F probably benign Het
Or8b1c T C 9: 38,384,271 (GRCm39) V76A probably damaging Het
Pcdhb1 A G 18: 37,399,516 (GRCm39) Y489C probably damaging Het
Ppp1r10 A G 17: 36,239,784 (GRCm39) K501R probably damaging Het
Ppp1r9a C T 6: 4,906,558 (GRCm39) T371I probably benign Het
Prpf8 A T 11: 75,386,860 (GRCm39) T1102S probably benign Het
Ric8b T G 10: 84,783,761 (GRCm39) D206E probably benign Het
Sacm1l T C 9: 123,389,666 (GRCm39) probably null Het
Sema6c C A 3: 95,080,129 (GRCm39) L776M probably damaging Het
Serpinb8 A G 1: 107,534,776 (GRCm39) T32A unknown Het
Sh2b3 A T 5: 121,967,111 (GRCm39) M1K probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spty2d1 T A 7: 46,643,100 (GRCm39) M664L unknown Het
Stk36 T A 1: 74,671,984 (GRCm39) S895T probably null Het
Sycp3 G A 10: 88,308,544 (GRCm39) E205K possibly damaging Het
Taok3 A G 5: 117,338,134 (GRCm39) probably null Het
Tasor2 T C 13: 3,635,122 (GRCm39) N562D possibly damaging Het
Tbc1d16 A T 11: 119,048,654 (GRCm39) I333N probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Thumpd2 C T 17: 81,351,557 (GRCm39) W288* probably null Het
Tnks2 T C 19: 36,849,990 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpm1 T C 9: 66,938,322 (GRCm39) D254G probably damaging Het
Usp53 A T 3: 122,751,223 (GRCm39) L278* probably null Het
Zfp37 C T 4: 62,110,014 (GRCm39) G350D probably damaging Het
Zfp777 C T 6: 48,002,594 (GRCm39) E543K probably damaging Het
Zfp81 A T 17: 33,553,274 (GRCm39) C513* probably null 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
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'- TCTAGCGTACATCGTCAGGG -3'
(R):5'- CATGCTGCATTCGTGCATTTTG -3'

Sequencing Primer
(F):5'- AGGGCCCTCACCTTGACATG -3'
(R):5'- GCCACTTGCCCTGGTAATTC -3'
Posted On 2015-01-23