Incidental Mutation 'R6757:A830018L16Rik'
ID 531079
Institutional Source Beutler Lab
Gene Symbol A830018L16Rik
Ensembl Gene ENSMUSG00000057715
Gene Name RIKEN cDNA A830018L16 gene
Synonyms
MMRRC Submission 044873-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6757 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 11484329-12046125 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 11666558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tyrosine at position 288 (*288Y)
Ref Sequence ENSEMBL: ENSMUSP00000119143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048613] [ENSMUST00000135014] [ENSMUST00000137824] [ENSMUST00000141512] [ENSMUST00000171690] [ENSMUST00000179089]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048613
SMART Domains Protein: ENSMUSP00000043857
Gene: ENSMUSG00000057715

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: ENSMUST00000135014
AA Change: *288Y
SMART Domains Protein: ENSMUSP00000119143
Gene: ENSMUSG00000057715
AA Change: *288Y

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 benign
Transcript: ENSMUST00000137824
SMART Domains Protein: ENSMUSP00000117421
Gene: ENSMUSG00000057715

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 benign
Transcript: ENSMUST00000141339
SMART Domains Protein: ENSMUSP00000121311
Gene: ENSMUSG00000057715

DomainStartEndE-ValueType
low complexity region 110 120 N/A INTRINSIC
low complexity region 130 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141512
SMART Domains Protein: ENSMUSP00000139635
Gene: ENSMUSG00000057715

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
low complexity region 213 223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171690
SMART Domains Protein: ENSMUSP00000132334
Gene: ENSMUSG00000057715

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 benign
Transcript: ENSMUST00000179089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191437
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2a G T 7: 101,204,221 (GRCm39) L106I probably benign Het
Bmi1 C T 2: 18,688,840 (GRCm39) T203M probably damaging Het
Cpm A G 10: 117,507,543 (GRCm39) D220G probably damaging Het
Cyp2a22 A C 7: 26,638,629 (GRCm39) D52E probably benign Het
Dag1 A C 9: 108,095,216 (GRCm39) I92S probably damaging Het
Dntt A T 19: 41,025,601 (GRCm39) H73L probably damaging Het
Epha5 A C 5: 84,253,737 (GRCm39) I716S probably damaging Het
Fpr-rs4 C T 17: 18,242,394 (GRCm39) Q134* probably null Het
Fzd8 T A 18: 9,213,238 (GRCm39) C107S possibly damaging Het
Garre1 G A 7: 33,938,502 (GRCm39) A799V possibly damaging Het
Gnptab T C 10: 88,273,364 (GRCm39) L1047P probably damaging Het
Gstt1 A T 10: 75,634,217 (GRCm39) probably null Het
Kdm2a T C 19: 4,369,271 (GRCm39) R1115G probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Myo1b C T 1: 51,852,207 (GRCm39) E179K probably damaging Het
Nrp1 T A 8: 129,152,349 (GRCm39) I186N probably damaging Het
Or10g3 A G 14: 52,610,172 (GRCm39) C113R probably damaging Het
Pole T C 5: 110,451,476 (GRCm39) V835A probably damaging Het
Shprh A G 10: 11,057,252 (GRCm39) probably null Het
Slc39a14 A T 14: 70,548,333 (GRCm39) L238Q probably damaging Het
Spata31e5 A C 1: 28,819,191 (GRCm39) I30S probably damaging Het
Usp40 A T 1: 87,907,759 (GRCm39) I619N 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
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
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'- CTTAAAGATGGAGCCCAAGACG -3'
(R):5'- AGGATAGAGCGCTGCATATG -3'

Sequencing Primer
(F):5'- GCCCAAGACGAAAGGATTAAAAC -3'
(R):5'- CAGTCTAGGGAATGTTTCACATGC -3'
Posted On 2018-08-01