Incidental Mutation 'R0946:Adck5'
ID 82129
Institutional Source Beutler Lab
Gene Symbol Adck5
Ensembl Gene ENSMUSG00000022550
Gene Name aarF domain containing kinase 5
Synonyms
MMRRC Submission 039085-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0946 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76460559-76480012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76477486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 107 (V107I)
Ref Sequence ENSEMBL: ENSMUSP00000125482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000162503] [ENSMUST00000161612] [ENSMUST00000161732] [ENSMUST00000160784] [ENSMUST00000230157] [ENSMUST00000231042]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000071898
SMART Domains Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022

DomainStartEndE-ValueType
Pfam:MMS1_N 92 684 7.2e-42 PFAM
low complexity region 902 910 N/A INTRINSIC
Pfam:CPSF_A 1071 1407 4.9e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160296
Predicted Effect probably benign
Transcript: ENSMUST00000162503
AA Change: V107I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
AA Change: V107I

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Pfam:ABC1 188 304 2.3e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000161612
AA Change: V107I

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550
AA Change: V107I

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161732
AA Change: V107I

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550
AA Change: V107I

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160784
AA Change: V107I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
AA Change: V107I

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Pfam:ABC1 188 304 9.2e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162139
Predicted Effect probably benign
Transcript: ENSMUST00000229287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231009
Predicted Effect probably benign
Transcript: ENSMUST00000230157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231037
Predicted Effect probably benign
Transcript: ENSMUST00000231042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230822
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230112D13Rik A G 14: 34,234,099 (GRCm39) M64T unknown Het
Adamts15 C T 9: 30,813,493 (GRCm39) G891R probably damaging Het
Aoc3 G A 11: 101,223,131 (GRCm39) V456M possibly damaging Het
Apbb1 A T 7: 105,223,062 (GRCm39) L183Q probably benign Het
Camsap3 A G 8: 3,654,442 (GRCm39) H693R probably benign Het
Ccdc88a A G 11: 29,406,509 (GRCm39) T414A probably benign Het
Cdh17 T C 4: 11,795,581 (GRCm39) V387A probably benign Het
Coasy G T 11: 100,976,696 (GRCm39) V489F probably damaging Het
Ercc6 A T 14: 32,274,578 (GRCm39) M574L probably benign Het
Esrrb T C 12: 86,552,598 (GRCm39) L180P probably damaging Het
Fam83b A T 9: 76,398,679 (GRCm39) V808D probably damaging Het
Fat3 C T 9: 15,909,100 (GRCm39) V2301I possibly damaging Het
Ftdc1 C A 16: 58,435,075 (GRCm39) R83S probably damaging Het
Hyal4 T A 6: 24,755,912 (GRCm39) Y43* probably null Het
Hydin C A 8: 111,257,685 (GRCm39) L2372M probably benign Het
Lrrc4c T C 2: 97,459,809 (GRCm39) V145A probably benign Het
Lypd10 A G 7: 24,413,167 (GRCm39) K162R probably benign Het
Muc21 A C 17: 35,929,105 (GRCm39) S1581A probably benign Het
Myh4 A G 11: 67,142,577 (GRCm39) I913V possibly damaging Het
Nat10 C T 2: 103,561,719 (GRCm39) G654D probably damaging Het
Nbn A T 4: 15,970,719 (GRCm39) probably null Het
Nup50l A T 6: 96,142,677 (GRCm39) N122K possibly damaging Het
Oas3 T C 5: 120,907,128 (GRCm39) Y503C unknown Het
Or11g7 C A 14: 50,691,130 (GRCm39) T207K probably benign Het
Pappa G T 4: 65,233,029 (GRCm39) probably null Het
Pfas A G 11: 68,884,121 (GRCm39) probably null Het
Pfas G T 11: 68,881,573 (GRCm39) probably null Het
Pign A T 1: 105,519,422 (GRCm39) M500K probably benign Het
Pkhd1 T C 1: 20,269,605 (GRCm39) K3313R probably benign Het
Ptk2b A G 14: 66,396,047 (GRCm39) V807A probably benign Het
Ptpdc1 C T 13: 48,740,286 (GRCm39) E382K probably damaging Het
Rfpl4b A T 10: 38,696,833 (GRCm39) I256N probably benign Het
Skap1 C G 11: 96,432,295 (GRCm39) S88* probably null Het
Slc4a2 T C 5: 24,640,884 (GRCm39) S742P probably damaging Het
Supv3l1 T C 10: 62,265,599 (GRCm39) D647G probably damaging Het
Tmem184c A C 8: 78,331,386 (GRCm39) V121G probably damaging Het
Tonsl T C 15: 76,507,421 (GRCm39) I118V probably benign Het
Top1 T A 2: 160,554,588 (GRCm39) Y446* probably null Het
Trim37 A G 11: 87,037,781 (GRCm39) R172G probably damaging Het
Vgll4 C A 6: 114,867,768 (GRCm39) probably null Het
Vgll4 T A 6: 114,867,769 (GRCm39) probably null Het
Vmn1r5 T G 6: 56,963,150 (GRCm39) I275S possibly damaging Het
Vwde A T 6: 13,187,874 (GRCm39) H584Q probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp282 T A 6: 47,856,943 (GRCm39) W59R probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zswim2 T A 2: 83,754,103 (GRCm39) T186S probably benign Het
Other mutations in Adck5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Adck5 APN 15 76,473,300 (GRCm39) missense possibly damaging 0.59
IGL01366:Adck5 APN 15 76,479,816 (GRCm39) makesense probably null
IGL01534:Adck5 APN 15 76,478,926 (GRCm39) missense probably damaging 1.00
IGL02066:Adck5 APN 15 76,479,406 (GRCm39) missense probably damaging 0.96
IGL02615:Adck5 APN 15 76,473,367 (GRCm39) missense possibly damaging 0.69
IGL02746:Adck5 APN 15 76,473,354 (GRCm39) missense probably benign 0.26
R0865:Adck5 UTSW 15 76,479,843 (GRCm39) missense probably damaging 0.98
R3714:Adck5 UTSW 15 76,478,138 (GRCm39) missense probably damaging 1.00
R3945:Adck5 UTSW 15 76,479,400 (GRCm39) missense probably damaging 1.00
R4373:Adck5 UTSW 15 76,478,535 (GRCm39) unclassified probably benign
R4377:Adck5 UTSW 15 76,478,535 (GRCm39) unclassified probably benign
R5343:Adck5 UTSW 15 76,479,780 (GRCm39) missense probably damaging 0.98
R5372:Adck5 UTSW 15 76,478,707 (GRCm39) unclassified probably benign
R5890:Adck5 UTSW 15 76,477,785 (GRCm39) missense probably damaging 1.00
R6151:Adck5 UTSW 15 76,478,887 (GRCm39) missense possibly damaging 0.81
R6277:Adck5 UTSW 15 76,477,463 (GRCm39) missense possibly damaging 0.58
R6530:Adck5 UTSW 15 76,478,047 (GRCm39) missense probably benign 0.00
R7163:Adck5 UTSW 15 76,478,016 (GRCm39) missense probably damaging 1.00
R7427:Adck5 UTSW 15 76,478,585 (GRCm39) missense possibly damaging 0.78
R7447:Adck5 UTSW 15 76,479,396 (GRCm39) missense possibly damaging 0.93
R7685:Adck5 UTSW 15 76,479,588 (GRCm39) nonsense probably null
R7745:Adck5 UTSW 15 76,478,748 (GRCm39) missense probably benign 0.36
R8912:Adck5 UTSW 15 76,477,435 (GRCm39) missense probably damaging 1.00
R9133:Adck5 UTSW 15 76,460,612 (GRCm39) start gained probably benign
R9664:Adck5 UTSW 15 76,478,383 (GRCm39) missense probably damaging 1.00
X0013:Adck5 UTSW 15 76,479,542 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- TTAGGCTGCTGCCACACTCATCAC -3'
(R):5'- CATACTTCGGGCTGTTCTGACCAC -3'

Sequencing Primer
(F):5'- CCTTCAGGATACTGTCACTGAGTAG -3'
(R):5'- TGTTCTGACCACAGGCATAG -3'
Posted On 2013-11-08