Incidental Mutation 'IGL01480:Adck1'
ID 88581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adck1
Ensembl Gene ENSMUSG00000021044
Gene Name aarF domain containing kinase 1
Synonyms 2610005A10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01480
Quality Score
Status
Chromosome 12
Chromosomal Location 88327324-88428494 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 88423635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 379 (C379*)
Ref Sequence ENSEMBL: ENSMUSP00000152821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101165] [ENSMUST00000166940] [ENSMUST00000222695]
AlphaFold Q9D0L4
Predicted Effect probably null
Transcript: ENSMUST00000101165
AA Change: C379*
SMART Domains Protein: ENSMUSP00000098724
Gene: ENSMUSG00000021044
AA Change: C379*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
Pfam:ABC1 136 252 1.7e-42 PFAM
Pfam:Pkinase 150 348 1.3e-5 PFAM
low complexity region 498 508 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000166940
AA Change: C379*
SMART Domains Protein: ENSMUSP00000127254
Gene: ENSMUSG00000021044
AA Change: C379*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 35 48 N/A INTRINSIC
Pfam:ABC1 136 252 2.2e-42 PFAM
Pfam:Pkinase 150 357 6.2e-6 PFAM
low complexity region 498 508 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000222695
AA Change: C379*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223538
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd10 A G 8: 11,685,592 (GRCm39) V9A probably benign Het
Ankrd13a A T 5: 114,938,879 (GRCm39) probably benign Het
Bbs1 T C 19: 4,944,421 (GRCm39) K403E probably damaging Het
Ccn3 A G 15: 54,615,687 (GRCm39) Y284C probably damaging Het
Cd200r2 A G 16: 44,729,629 (GRCm39) I95V probably null Het
Cyba T C 8: 123,151,684 (GRCm39) E171G probably benign Het
Dnah2 T A 11: 69,349,197 (GRCm39) M2480L possibly damaging Het
Fxyd7 A T 7: 30,746,799 (GRCm39) Y20* probably null Het
Il22ra1 T C 4: 135,472,112 (GRCm39) V216A probably benign Het
Mapk10 G A 5: 103,074,018 (GRCm39) probably benign Het
Mgat5b C A 11: 116,869,278 (GRCm39) T607K probably benign Het
Optn G A 2: 5,050,829 (GRCm39) S184L probably benign Het
Or10d5 G A 9: 39,861,284 (GRCm39) A261V probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or1p1c A T 11: 74,160,427 (GRCm39) I71L possibly damaging Het
Or7a42 T C 10: 78,791,978 (GRCm39) probably benign Het
Plxna1 A G 6: 89,321,078 (GRCm39) L462P possibly damaging Het
Prkca C T 11: 108,083,027 (GRCm39) V73M probably damaging Het
Prkca A G 11: 107,877,115 (GRCm39) F339L possibly damaging Het
Ptch2 T C 4: 116,971,279 (GRCm39) V1062A probably damaging Het
Serpina11 T A 12: 103,949,110 (GRCm39) K354* probably null Het
Sf1 T C 19: 6,422,052 (GRCm39) probably benign Het
Stam2 A G 2: 52,606,451 (GRCm39) S112P probably benign Het
Tlr5 G A 1: 182,801,064 (GRCm39) E123K probably benign Het
Tpp1 T C 7: 105,398,260 (GRCm39) E301G probably damaging Het
Vmn2r58 T A 7: 41,514,116 (GRCm39) I176F probably benign Het
Other mutations in Adck1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Adck1 APN 12 88,335,192 (GRCm39) missense probably benign 0.00
IGL00822:Adck1 APN 12 88,422,286 (GRCm39) missense probably damaging 0.99
IGL01370:Adck1 APN 12 88,423,503 (GRCm39) splice site probably benign
IGL01994:Adck1 APN 12 88,397,926 (GRCm39) missense possibly damaging 0.50
IGL02089:Adck1 APN 12 88,413,480 (GRCm39) missense probably damaging 0.96
IGL03058:Adck1 APN 12 88,425,900 (GRCm39) missense probably benign
IGL03196:Adck1 APN 12 88,397,885 (GRCm39) missense probably damaging 1.00
IGL03307:Adck1 APN 12 88,425,823 (GRCm39) missense possibly damaging 0.94
full-figured UTSW 12 88,407,887 (GRCm39) missense possibly damaging 0.63
0152:Adck1 UTSW 12 88,397,921 (GRCm39) missense probably benign 0.03
R0107:Adck1 UTSW 12 88,413,426 (GRCm39) missense possibly damaging 0.62
R0164:Adck1 UTSW 12 88,422,280 (GRCm39) missense probably damaging 0.99
R0164:Adck1 UTSW 12 88,422,280 (GRCm39) missense probably damaging 0.99
R0179:Adck1 UTSW 12 88,425,942 (GRCm39) missense possibly damaging 0.91
R0505:Adck1 UTSW 12 88,338,461 (GRCm39) splice site probably benign
R0561:Adck1 UTSW 12 88,335,204 (GRCm39) missense possibly damaging 0.49
R0831:Adck1 UTSW 12 88,335,118 (GRCm39) start codon destroyed probably null 1.00
R1005:Adck1 UTSW 12 88,368,872 (GRCm39) missense probably damaging 0.98
R1524:Adck1 UTSW 12 88,368,854 (GRCm39) missense probably damaging 1.00
R2016:Adck1 UTSW 12 88,427,862 (GRCm39) missense probably damaging 1.00
R4438:Adck1 UTSW 12 88,397,920 (GRCm39) nonsense probably null
R4745:Adck1 UTSW 12 88,368,949 (GRCm39) splice site probably null
R4827:Adck1 UTSW 12 88,413,489 (GRCm39) missense probably benign 0.06
R4859:Adck1 UTSW 12 88,407,865 (GRCm39) missense probably benign 0.02
R4885:Adck1 UTSW 12 88,407,865 (GRCm39) missense probably benign 0.02
R4921:Adck1 UTSW 12 88,407,908 (GRCm39) missense probably benign 0.10
R5383:Adck1 UTSW 12 88,422,373 (GRCm39) missense probably benign 0.04
R5958:Adck1 UTSW 12 88,425,822 (GRCm39) missense probably benign 0.33
R6028:Adck1 UTSW 12 88,368,902 (GRCm39) missense probably benign
R6199:Adck1 UTSW 12 88,407,887 (GRCm39) missense possibly damaging 0.63
R6317:Adck1 UTSW 12 88,368,921 (GRCm39) missense probably damaging 1.00
R6616:Adck1 UTSW 12 88,427,958 (GRCm39) missense unknown
R6715:Adck1 UTSW 12 88,425,850 (GRCm39) missense probably damaging 1.00
R6915:Adck1 UTSW 12 88,422,390 (GRCm39) missense probably damaging 1.00
R7295:Adck1 UTSW 12 88,397,815 (GRCm39) missense probably damaging 1.00
R7387:Adck1 UTSW 12 88,427,822 (GRCm39) missense probably benign
R7520:Adck1 UTSW 12 88,425,975 (GRCm39) critical splice donor site probably null
R7562:Adck1 UTSW 12 88,335,203 (GRCm39) missense possibly damaging 0.77
R7745:Adck1 UTSW 12 88,423,570 (GRCm39) missense probably benign
R7759:Adck1 UTSW 12 88,368,887 (GRCm39) missense possibly damaging 0.65
R8092:Adck1 UTSW 12 88,427,831 (GRCm39) missense possibly damaging 0.68
R8336:Adck1 UTSW 12 88,335,249 (GRCm39) missense probably damaging 1.00
R9145:Adck1 UTSW 12 88,335,193 (GRCm39) missense probably benign 0.00
R9443:Adck1 UTSW 12 88,338,550 (GRCm39) critical splice donor site probably null
Posted On 2013-11-18