Incidental Mutation 'IGL01994:Adck1'
ID 183613
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 # IGL01994
Quality Score
Status
Chromosome 12
Chromosomal Location 88327324-88428494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88397926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 187 (S187P)
Ref Sequence ENSEMBL: ENSMUSP00000152821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101165] [ENSMUST00000166940] [ENSMUST00000222695]
AlphaFold Q9D0L4
Predicted Effect possibly damaging
Transcript: ENSMUST00000101165
AA Change: S187P

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098724
Gene: ENSMUSG00000021044
AA Change: S187P

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 possibly damaging
Transcript: ENSMUST00000166940
AA Change: S187P

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127254
Gene: ENSMUSG00000021044
AA Change: S187P

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 noncoding transcript
Transcript: ENSMUST00000222124
Predicted Effect possibly damaging
Transcript: ENSMUST00000222695
AA Change: S187P

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,305,563 (GRCm39) Y418N probably benign Het
Adam15 T C 3: 89,248,812 (GRCm39) probably benign Het
Adam32 C A 8: 25,392,812 (GRCm39) probably benign Het
Adamts12 T A 15: 11,345,680 (GRCm39) C1574S probably damaging Het
Atp13a3 A G 16: 30,156,336 (GRCm39) V949A possibly damaging Het
Atxn3 T C 12: 101,908,439 (GRCm39) T138A probably benign Het
Atxn7l2 C T 3: 108,110,859 (GRCm39) R559Q probably damaging Het
Bicra G T 7: 15,706,741 (GRCm39) S1233R possibly damaging Het
Cacybp G T 1: 160,034,206 (GRCm39) N101K probably damaging Het
Cops7b T C 1: 86,528,828 (GRCm39) L185P probably damaging Het
Cttnbp2 T C 6: 18,420,814 (GRCm39) D899G possibly damaging Het
Cyp4f37 C T 17: 32,844,150 (GRCm39) R85* probably null Het
Dnah3 T G 7: 119,550,437 (GRCm39) N3294T possibly damaging Het
Elmo1 T A 13: 20,526,634 (GRCm39) Y395N probably damaging Het
Fam234b T A 6: 135,202,203 (GRCm39) Y308* probably null Het
Fam43a A G 16: 30,419,481 (GRCm39) K22E probably damaging Het
Fcer2a T C 8: 3,738,302 (GRCm39) N123D possibly damaging Het
Gm11595 A G 11: 99,663,027 (GRCm39) C218R unknown Het
Gria4 T C 9: 4,537,726 (GRCm39) Y194C probably damaging Het
Grin2d T C 7: 45,507,396 (GRCm39) E435G probably damaging Het
Hectd1 T C 12: 51,844,725 (GRCm39) E506G probably damaging Het
Htt G A 5: 34,989,948 (GRCm39) S1160N possibly damaging Het
Ift140 A G 17: 25,267,417 (GRCm39) E605G probably damaging Het
Il17re T C 6: 113,445,411 (GRCm39) V374A probably benign Het
Ippk A G 13: 49,612,093 (GRCm39) Q439R possibly damaging Het
Itgam G A 7: 127,700,899 (GRCm39) V530M probably damaging Het
Kirrel3 A G 9: 34,931,429 (GRCm39) H47R possibly damaging Het
Klk1b24 A T 7: 43,841,057 (GRCm39) I162F probably damaging Het
Lama1 A T 17: 68,059,434 (GRCm39) T606S probably benign Het
Lama2 C T 10: 27,343,199 (GRCm39) probably null Het
Lrp2 A G 2: 69,313,945 (GRCm39) I2262T probably benign Het
Mamdc4 A T 2: 25,458,546 (GRCm39) I317N possibly damaging Het
Mtmr3 G T 11: 4,437,938 (GRCm39) H839N probably benign Het
Ncr1 G T 7: 4,344,253 (GRCm39) V177F probably benign Het
Nop58 T C 1: 59,743,242 (GRCm39) S219P probably damaging Het
Nrg3 T C 14: 38,734,043 (GRCm39) Y281C probably damaging Het
Nsf A G 11: 103,819,608 (GRCm39) S54P probably damaging Het
Or56b6 A T 7: 104,925,153 (GRCm39) noncoding transcript Het
Or6k8-ps1 T A 1: 173,979,102 (GRCm39) S7T probably benign Het
Plxnc1 T C 10: 94,685,801 (GRCm39) K730R probably damaging Het
Polr2g A T 19: 8,771,740 (GRCm39) probably benign Het
Rps13 A G 7: 115,932,925 (GRCm39) probably benign Het
Scgb2b7 A G 7: 31,403,409 (GRCm39) I99T probably benign Het
Slc22a27 G T 19: 7,887,108 (GRCm39) H260Q possibly damaging Het
Spata18 G T 5: 73,814,944 (GRCm39) probably null Het
Tns2 A G 15: 102,019,814 (GRCm39) E560G possibly damaging Het
Trbv16 T C 6: 41,128,715 (GRCm39) probably benign Het
Ubr3 T A 2: 69,851,520 (GRCm39) I1829N probably damaging Het
Vcl C T 14: 21,053,311 (GRCm39) T442I probably damaging Het
Vmn2r102 T A 17: 19,880,731 (GRCm39) I24N probably benign Het
Vmn2r114 T C 17: 23,529,451 (GRCm39) D217G probably damaging Het
Vmn2r58 A G 7: 41,486,394 (GRCm39) Y834H probably damaging Het
Zdhhc8 G T 16: 18,045,636 (GRCm39) 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
IGL01480:Adck1 APN 12 88,423,635 (GRCm39) nonsense probably null
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 2014-05-07