Incidental Mutation 'R5802:A830018L16Rik'
ID 501561
Institutional Source Beutler Lab
Gene Symbol A830018L16Rik
Ensembl Gene ENSMUSG00000057715
Gene Name RIKEN cDNA A830018L16 gene
Synonyms
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 11484329-12046125 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12021188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 383 (D383V)
Ref Sequence ENSEMBL: ENSMUSP00000137287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048613] [ENSMUST00000137824] [ENSMUST00000179089]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000048613
AA Change: D396V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043857
Gene: ENSMUSG00000057715
AA Change: D396V

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
low complexity region 213 223 N/A INTRINSIC
low complexity region 233 248 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000137824
AA Change: D399V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117421
Gene: ENSMUSG00000057715
AA Change: D399V

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
low complexity region 213 223 N/A INTRINSIC
low complexity region 233 248 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179089
AA Change: D383V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect not run
Transcript: ENSMUST00000185882
AA Change: D399V
Meta Mutation Damage Score 0.2565 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Abca4 A T 3: 121,847,881 (GRCm39) L67F probably damaging Het
Abcc9 C A 6: 142,602,402 (GRCm39) probably null Het
Atp2a3 T C 11: 72,863,708 (GRCm39) V175A probably damaging Het
B3galt4 T A 17: 34,169,731 (GRCm39) D169V probably damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Camkk2 T C 5: 122,872,307 (GRCm39) E90G probably damaging Het
Cdon T A 9: 35,365,716 (GRCm39) I155N probably damaging Het
Cep70 A G 9: 99,178,458 (GRCm39) N519D probably damaging Het
Clgn T C 8: 84,152,243 (GRCm39) S582P probably damaging Het
Cnga3 T C 1: 37,300,006 (GRCm39) F280S probably damaging Het
Dennd4c C T 4: 86,729,690 (GRCm39) T764M probably benign Het
Dis3 A T 14: 99,337,100 (GRCm39) S4T probably damaging Het
Dlgap1 T C 17: 71,073,086 (GRCm39) probably null Het
Dnah17 C T 11: 117,927,272 (GRCm39) V3839I possibly damaging Het
Dnajc1 A G 2: 18,289,550 (GRCm39) Y286H probably benign Het
Dynap T A 18: 70,374,073 (GRCm39) D151V unknown Het
Ednrb A G 14: 104,059,150 (GRCm39) F292S probably damaging Het
Eef1a1 A G 9: 78,386,318 (GRCm39) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm39) F324S probably benign Het
Fbxw11 T A 11: 32,661,790 (GRCm39) S56T probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm39) V209L probably benign Homo
Gm5592 C T 7: 40,868,529 (GRCm39) probably benign Het
Gpr137 C T 19: 6,919,373 (GRCm39) W51* probably null Het
H2-T9 A G 17: 36,422,179 (GRCm39) probably benign Het
Hbb-bs T C 7: 103,475,879 (GRCm39) Y146C probably damaging Het
Herc1 G T 9: 66,370,160 (GRCm39) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,495,400 (GRCm39) N309K unknown Het
Hydin A T 8: 111,178,692 (GRCm39) I1096F possibly damaging Het
Klf12 A G 14: 100,260,330 (GRCm39) V133A probably benign Het
Lats2 A T 14: 57,931,875 (GRCm39) Y848N probably damaging Het
Loxl3 A G 6: 83,026,270 (GRCm39) T453A possibly damaging Het
Ltn1 T G 16: 87,212,569 (GRCm39) H664P probably benign Het
Lypd6 C T 2: 50,063,613 (GRCm39) T40I probably benign Het
Nbeal1 A T 1: 60,311,380 (GRCm39) T1817S probably benign Het
Nub1 A C 5: 24,907,439 (GRCm39) Y350S possibly damaging Het
Pbp2 A G 6: 135,286,874 (GRCm39) Y158H possibly damaging Het
Ptpru C T 4: 131,515,688 (GRCm39) E827K possibly damaging Het
Rap1a A G 3: 105,653,252 (GRCm39) Y32H probably damaging Het
Raph1 T C 1: 60,527,832 (GRCm39) N1143S possibly damaging Het
Rbl1 T C 2: 157,003,353 (GRCm39) T859A probably benign Het
Rom1 A G 19: 8,906,188 (GRCm39) L117P probably damaging Het
Senp6 T C 9: 80,025,926 (GRCm39) probably benign Het
Sirpb1c T C 3: 15,886,240 (GRCm39) M379V probably benign Het
Slc6a4 C T 11: 76,910,062 (GRCm39) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm39) R141L probably damaging Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Tcstv2c G A 13: 120,616,449 (GRCm39) S96N possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tgds T C 14: 118,370,119 (GRCm39) E8G probably benign Het
Tmem129 A G 5: 33,815,060 (GRCm39) S38P probably damaging Het
Trappc9 T C 15: 72,557,188 (GRCm39) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm39) probably benign Het
Wapl A G 14: 34,414,277 (GRCm39) T380A probably damaging Het
Xylt1 A T 7: 117,255,914 (GRCm39) T829S probably benign Het
Zc3h6 C T 2: 128,857,479 (GRCm39) P666L possibly damaging Het
Zfp1010 T C 2: 176,957,049 (GRCm39) T150A possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in A830018L16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:A830018L16Rik APN 1 11,818,278 (GRCm39) missense probably damaging 0.98
IGL01916:A830018L16Rik APN 1 11,818,331 (GRCm39) splice site probably benign
IGL02040:A830018L16Rik APN 1 12,003,822 (GRCm39) intron probably benign
IGL02432:A830018L16Rik APN 1 11,818,303 (GRCm39) missense probably damaging 1.00
IGL02693:A830018L16Rik APN 1 11,666,506 (GRCm39) missense probably damaging 1.00
IGL02736:A830018L16Rik APN 1 12,042,275 (GRCm39) missense probably benign 0.02
IGL03293:A830018L16Rik APN 1 11,615,375 (GRCm39) splice site probably null
IGL02835:A830018L16Rik UTSW 1 12,042,279 (GRCm39) missense possibly damaging 0.54
R1203:A830018L16Rik UTSW 1 11,588,818 (GRCm39) missense probably damaging 1.00
R1216:A830018L16Rik UTSW 1 11,868,716 (GRCm39) missense probably damaging 0.99
R1548:A830018L16Rik UTSW 1 11,588,818 (GRCm39) missense probably damaging 1.00
R1644:A830018L16Rik UTSW 1 11,484,814 (GRCm39) nonsense probably null
R1855:A830018L16Rik UTSW 1 11,818,195 (GRCm39) missense probably damaging 1.00
R1858:A830018L16Rik UTSW 1 12,045,177 (GRCm39) missense unknown
R2265:A830018L16Rik UTSW 1 12,042,328 (GRCm39) critical splice donor site probably null
R2296:A830018L16Rik UTSW 1 11,582,275 (GRCm39) missense possibly damaging 0.94
R2484:A830018L16Rik UTSW 1 11,666,526 (GRCm39) missense probably damaging 1.00
R3730:A830018L16Rik UTSW 1 11,615,450 (GRCm39) missense probably damaging 1.00
R3752:A830018L16Rik UTSW 1 11,588,904 (GRCm39) missense probably damaging 1.00
R3861:A830018L16Rik UTSW 1 11,658,778 (GRCm39) splice site probably benign
R4305:A830018L16Rik UTSW 1 12,042,300 (GRCm39) nonsense probably null
R4306:A830018L16Rik UTSW 1 12,042,300 (GRCm39) nonsense probably null
R4307:A830018L16Rik UTSW 1 12,042,300 (GRCm39) nonsense probably null
R4558:A830018L16Rik UTSW 1 12,042,300 (GRCm39) nonsense probably null
R4598:A830018L16Rik UTSW 1 11,818,188 (GRCm39) critical splice acceptor site probably null
R4652:A830018L16Rik UTSW 1 11,607,566 (GRCm39) intron probably benign
R5492:A830018L16Rik UTSW 1 11,615,431 (GRCm39) missense probably damaging 0.99
R5493:A830018L16Rik UTSW 1 11,615,431 (GRCm39) missense probably damaging 0.99
R6007:A830018L16Rik UTSW 1 11,582,140 (GRCm39) critical splice acceptor site probably null
R6082:A830018L16Rik UTSW 1 11,868,752 (GRCm39) missense probably benign 0.04
R6376:A830018L16Rik UTSW 1 11,868,718 (GRCm39) missense probably damaging 0.98
R6453:A830018L16Rik UTSW 1 11,868,782 (GRCm39) missense possibly damaging 0.91
R6757:A830018L16Rik UTSW 1 11,666,558 (GRCm39) makesense probably null
R6833:A830018L16Rik UTSW 1 11,658,733 (GRCm39) missense probably damaging 1.00
R7163:A830018L16Rik UTSW 1 11,484,848 (GRCm39) missense probably damaging 0.96
R7272:A830018L16Rik UTSW 1 11,658,695 (GRCm39) missense probably damaging 0.97
R7566:A830018L16Rik UTSW 1 12,021,252 (GRCm39) missense probably damaging 1.00
R7665:A830018L16Rik UTSW 1 12,042,323 (GRCm39) missense probably damaging 0.96
R8004:A830018L16Rik UTSW 1 12,021,286 (GRCm39) splice site probably benign
R8754:A830018L16Rik UTSW 1 11,615,472 (GRCm39) missense probably benign 0.33
R8944:A830018L16Rik UTSW 1 11,484,706 (GRCm39) unclassified probably benign
R8993:A830018L16Rik UTSW 1 11,615,491 (GRCm39) nonsense probably null
R8997:A830018L16Rik UTSW 1 11,615,491 (GRCm39) nonsense probably null
R9098:A830018L16Rik UTSW 1 11,633,211 (GRCm39) missense probably damaging 1.00
R9640:A830018L16Rik UTSW 1 12,021,200 (GRCm39) missense probably damaging 0.98
R9704:A830018L16Rik UTSW 1 11,588,913 (GRCm39) missense probably damaging 1.00
R9705:A830018L16Rik UTSW 1 11,588,913 (GRCm39) missense probably damaging 1.00
Z1176:A830018L16Rik UTSW 1 11,588,849 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CTAGGACGTATCACTCCCTGATTG -3'
(R):5'- TGACAATTAGGATAACACTGAGCC -3'

Sequencing Primer
(F):5'- ACTCCCTGATTGGCTGCAG -3'
(R):5'- ACACTGAGCCAATGGTATTGTG -3'
Posted On 2017-12-01