Incidental Mutation 'R4307:A830018L16Rik'
ID 324047
Institutional Source Beutler Lab
Gene Symbol A830018L16Rik
Ensembl Gene ENSMUSG00000057715
Gene Name RIKEN cDNA A830018L16 gene
Synonyms
MMRRC Submission 041658-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R4307 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 11484329-12046125 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 12042300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 440 (S440*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048613] [ENSMUST00000137824] [ENSMUST00000179089]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000048613
AA Change: S437*
SMART Domains Protein: ENSMUSP00000043857
Gene: ENSMUSG00000057715
AA Change: S437*

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 null
Transcript: ENSMUST00000137824
AA Change: S440*
SMART Domains Protein: ENSMUSP00000117421
Gene: ENSMUSG00000057715
AA Change: S440*

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 null
Transcript: ENSMUST00000179089
AA Change: S424*
Predicted Effect probably null
Transcript: ENSMUST00000185882
AA Change: S440*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (33/33)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500009L16Rik A C 10: 83,573,792 (GRCm39) K22N probably damaging Het
Asap2 T C 12: 21,279,482 (GRCm39) I426T probably damaging Het
Ccr5 T C 9: 123,925,111 (GRCm39) L238P possibly damaging Het
Cfap157 G A 2: 32,669,054 (GRCm39) R350W probably damaging Het
Efemp2 T A 19: 5,531,649 (GRCm39) Y430N possibly damaging Het
Egf T A 3: 129,512,744 (GRCm39) Y473F probably damaging Het
Emilin3 T C 2: 160,750,237 (GRCm39) E504G probably damaging Het
Fcsk G A 8: 111,618,712 (GRCm39) Q349* probably null Het
Frmd4a C T 2: 4,337,889 (GRCm39) R32C probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Gpbp1 T C 13: 111,585,517 (GRCm39) *68W probably null Het
Gpm6a T C 8: 55,500,428 (GRCm39) probably null Het
Inpp5a T C 7: 139,154,879 (GRCm39) S333P possibly damaging Het
Itgb5 T G 16: 33,769,102 (GRCm39) Y481D possibly damaging Het
Kif27 C T 13: 58,491,937 (GRCm39) V401I probably benign Het
Lca5l C T 16: 95,960,756 (GRCm39) probably benign Het
Mrtfa G A 15: 80,900,548 (GRCm39) L648F possibly damaging Het
Plxna4 A G 6: 32,140,444 (GRCm39) V1648A probably damaging Het
Polk C T 13: 96,633,174 (GRCm39) E290K possibly damaging Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Scn7a A T 2: 66,506,099 (GRCm39) S1597T possibly damaging Het
Slc5a11 T A 7: 122,869,093 (GRCm39) H560Q probably benign Het
Top3b T C 16: 16,707,481 (GRCm39) probably benign Het
Unc13c T C 9: 73,600,649 (GRCm39) N1365S probably benign Het
Vmn2r101 T A 17: 19,810,423 (GRCm39) V403E probably damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r28 A T 7: 5,493,707 (GRCm39) F80I 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
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
R5802:A830018L16Rik UTSW 1 12,021,188 (GRCm39) missense probably damaging 1.00
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'- CAGCTGGCGTTCTGTTCAGA -3'
(R):5'- TGCTGTTGATAATAAATGCCTGTAGC -3'

Sequencing Primer
(F):5'- CAGAGTGCACTGCATGTTTGAAC -3'
(R):5'- TTCCAAAGGCTGGCTGAATGC -3'
Posted On 2015-06-24