Incidental Mutation 'IGL02089:Adck1'
ID 279364
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 # IGL02089
Quality Score
Status
Chromosome 12
Chromosomal Location 88327324-88428494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88413480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 271 (V271F)
Ref Sequence ENSEMBL: ENSMUSP00000152821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101165] [ENSMUST00000166940] [ENSMUST00000222695]
AlphaFold Q9D0L4
Predicted Effect probably damaging
Transcript: ENSMUST00000101165
AA Change: V271F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098724
Gene: ENSMUSG00000021044
AA Change: V271F

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 damaging
Transcript: ENSMUST00000166940
AA Change: V271F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127254
Gene: ENSMUSG00000021044
AA Change: V271F

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: ENSMUST00000221624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222124
Predicted Effect probably damaging
Transcript: ENSMUST00000222695
AA Change: V271F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330160F10Rik C T 11: 68,951,013 (GRCm39) silent Het
Aggf1 T C 13: 95,507,437 (GRCm39) D116G probably benign Het
Anapc1 A T 2: 128,505,853 (GRCm39) V661E probably damaging Het
Apoa5 T C 9: 46,180,437 (GRCm39) probably null Het
Atp8a2 C T 14: 60,264,369 (GRCm39) probably null Het
Bnipl A T 3: 95,157,577 (GRCm39) probably benign Het
Cbs T G 17: 31,834,519 (GRCm39) D490A probably benign Het
Chrdl1 G T X: 142,086,510 (GRCm39) H199N possibly damaging Het
Dcaf1 C T 9: 106,740,310 (GRCm39) T1232I probably benign Het
Ddx19b T C 8: 111,735,477 (GRCm39) probably benign Het
Ephb4 A G 5: 137,369,024 (GRCm39) K805E probably damaging Het
Ergic3 A G 2: 155,852,395 (GRCm39) N135D probably benign Het
Fbxw18 C T 9: 109,530,390 (GRCm39) V74I probably benign Het
Fmo4 G T 1: 162,626,649 (GRCm39) T299N probably benign Het
Gmeb1 T C 4: 131,953,147 (GRCm39) K540E probably damaging Het
H60c T A 10: 3,209,826 (GRCm39) S154C possibly damaging Het
Herc1 T C 9: 66,388,151 (GRCm39) L3812S probably damaging Het
Hipk3 T C 2: 104,261,724 (GRCm39) D937G probably damaging Het
Ift122 A G 6: 115,902,398 (GRCm39) D1079G probably benign Het
Il6st T C 13: 112,631,774 (GRCm39) W438R probably benign Het
Lypla2 C T 4: 135,696,932 (GRCm39) V117I probably benign Het
Mapk8ip1 T C 2: 92,216,220 (GRCm39) Y516C probably damaging Het
Mmp24 G A 2: 155,654,213 (GRCm39) G397D probably damaging Het
Muc4 G A 16: 32,570,131 (GRCm39) S397N possibly damaging Het
Muc5b T G 7: 141,416,987 (GRCm39) V3311G probably benign Het
Naca A G 10: 127,872,358 (GRCm39) probably benign Het
Nrxn1 A G 17: 91,395,829 (GRCm39) V109A probably benign Het
Nup210 T G 6: 91,053,680 (GRCm39) D279A probably benign Het
Or10g6 A T 9: 39,934,066 (GRCm39) I126F probably damaging Het
Or8h7 A G 2: 86,721,460 (GRCm39) S20P possibly damaging Het
Pappa T A 4: 65,074,361 (GRCm39) V305E possibly damaging Het
Pcdh19 A T X: 132,489,245 (GRCm39) M977K probably benign Het
Pdzph1 T A 17: 59,274,334 (GRCm39) I837F possibly damaging Het
Phip A T 9: 82,753,372 (GRCm39) L1791M probably damaging Het
Pkdrej C T 15: 85,700,489 (GRCm39) V1816I possibly damaging Het
Ptprz1 G A 6: 23,033,447 (GRCm39) V1063M probably damaging Het
Qprt A T 7: 126,707,528 (GRCm39) M220K probably damaging Het
R3hcc1 T C 14: 69,937,475 (GRCm39) K391E possibly damaging Het
Rbbp7 C A X: 161,554,052 (GRCm39) P162Q probably benign Het
Rev3l A T 10: 39,701,095 (GRCm39) N1864I probably damaging Het
Rims1 A G 1: 22,669,556 (GRCm39) I84T possibly damaging Het
Rnase2b A T 14: 51,400,240 (GRCm39) K107I probably benign Het
Sbf1 C A 15: 89,186,708 (GRCm39) E864* probably null Het
Strip2 G A 6: 29,917,179 (GRCm39) probably benign Het
Stx4a T C 7: 127,447,570 (GRCm39) I238T probably damaging Het
Tbc1d2b C T 9: 90,104,412 (GRCm39) V577I possibly damaging Het
Tex38 T C 4: 115,637,591 (GRCm39) T71A possibly damaging Het
Usp38 T C 8: 81,712,343 (GRCm39) E564G possibly damaging Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Wwp2 T A 8: 108,280,689 (GRCm39) L644Q probably damaging Het
Zfp267 T C 3: 36,218,877 (GRCm39) F300S possibly damaging Het
Zpld1 A G 16: 55,071,974 (GRCm39) I95T 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
IGL01994:Adck1 APN 12 88,397,926 (GRCm39) missense possibly damaging 0.50
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 2015-04-16