Incidental Mutation 'R6453:A830018L16Rik'
ID 520083
Institutional Source Beutler Lab
Gene Symbol A830018L16Rik
Ensembl Gene ENSMUSG00000057715
Gene Name RIKEN cDNA A830018L16 gene
Synonyms
MMRRC Submission 044589-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6453 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 11484329-12046125 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11868782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 354 (D354V)
Ref Sequence ENSEMBL: ENSMUSP00000137287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048613] [ENSMUST00000137824] [ENSMUST00000141512] [ENSMUST00000179089]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000048613
AA Change: D351V

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043857
Gene: ENSMUSG00000057715
AA Change: D351V

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 possibly damaging
Transcript: ENSMUST00000137824
AA Change: D354V

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117421
Gene: ENSMUSG00000057715
AA Change: D354V

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: 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 possibly damaging
Transcript: ENSMUST00000179089
AA Change: D354V

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.6%
  • 20x: 92.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik C T 17: 35,879,109 (GRCm39) S149L possibly damaging Het
Acta2 G A 19: 34,224,057 (GRCm39) T150I probably damaging Het
Adgra1 T A 7: 139,455,343 (GRCm39) S324T probably benign Het
Ankrd44 A T 1: 54,696,863 (GRCm39) probably null Het
B430306N03Rik T A 17: 48,623,764 (GRCm39) W22R probably damaging Het
Ccdc162 A T 10: 41,426,821 (GRCm39) V2024E probably damaging Het
Cers6 C T 2: 68,877,513 (GRCm39) H164Y probably benign Het
Chd3 T A 11: 69,240,938 (GRCm39) K1458* probably null Het
Cimip1 A G 2: 173,370,052 (GRCm39) Y109C probably benign Het
Col3a1 G A 1: 45,378,538 (GRCm39) probably benign Het
Cyb5d2 T G 11: 72,673,586 (GRCm39) T3P probably benign Het
Dennd1b A G 1: 139,071,686 (GRCm39) Y468C probably benign Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Exoc7 T C 11: 116,184,795 (GRCm39) probably null Het
Fat2 A G 11: 55,173,042 (GRCm39) I2557T probably benign Het
Flt1 T C 5: 147,620,751 (GRCm39) D131G possibly damaging Het
Frem1 G T 4: 82,833,062 (GRCm39) S1858* probably null Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gldc A T 19: 30,093,917 (GRCm39) I700N probably damaging Het
Gpatch4 A G 3: 87,962,312 (GRCm39) E175G probably damaging Het
Gria2 A G 3: 80,648,281 (GRCm39) Y152H possibly damaging Het
H2-Q2 C T 17: 35,563,871 (GRCm39) L251F probably benign Het
Hectd4 G A 5: 121,488,655 (GRCm39) G3649R probably damaging Het
Hormad1 A G 3: 95,485,568 (GRCm39) E252G probably benign Het
Kif14 A G 1: 136,410,042 (GRCm39) probably null Het
Lmcd1 A G 6: 112,292,789 (GRCm39) T214A probably benign Het
Macrod2 A G 2: 142,018,545 (GRCm39) E226G probably damaging Het
Mcm4 A T 16: 15,448,273 (GRCm39) L428Q probably damaging Het
Msh6 T A 17: 88,293,167 (GRCm39) Y641N probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nipa2 A T 7: 55,585,569 (GRCm39) M142K probably damaging Het
Or8b1c T C 9: 38,384,871 (GRCm39) I276T probably benign Het
Parvg A T 15: 84,213,126 (GRCm39) E122V probably null Het
Pclo T A 5: 14,726,803 (GRCm39) probably benign Het
Pik3cd A G 4: 149,736,759 (GRCm39) V933A probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Qpctl C T 7: 18,875,222 (GRCm39) V337I probably damaging Het
Qrfprl G A 6: 65,430,014 (GRCm39) G237S possibly damaging Het
Ralgapa1 A G 12: 55,785,104 (GRCm39) W719R probably damaging Het
Rangrf A G 11: 68,864,378 (GRCm39) L28P probably damaging Het
Rbbp9 G T 2: 144,391,054 (GRCm39) Q38K probably benign Het
Rnf169 C T 7: 99,584,434 (GRCm39) M246I probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Sdk1 A G 5: 142,082,676 (GRCm39) D1098G probably damaging Het
Sgsm3 T A 15: 80,895,515 (GRCm39) S689T probably damaging Het
Slc13a3 C T 2: 165,253,867 (GRCm39) V429M possibly damaging Het
Slc30a5 A T 13: 100,951,197 (GRCm39) D228E probably benign Het
Slc46a3 A G 5: 147,823,200 (GRCm39) I214T possibly damaging Het
Slc7a15 T C 12: 8,584,490 (GRCm39) M347V possibly damaging Het
Slc9a2 A T 1: 40,781,781 (GRCm39) I337F possibly damaging Het
Sostdc1 C A 12: 36,364,407 (GRCm39) P39T probably benign Het
Speg A G 1: 75,394,616 (GRCm39) N1775S probably benign Het
Spg7 A G 8: 123,806,162 (GRCm39) K291E possibly damaging Het
Sptbn2 A T 19: 4,794,208 (GRCm39) R1471W possibly damaging Het
Thada T C 17: 84,723,751 (GRCm39) E1101G probably damaging Het
Trpm6 G A 19: 18,807,354 (GRCm39) A1033T probably damaging Het
Ttll6 G A 11: 96,049,553 (GRCm39) R757H probably benign 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
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'- AGCACACATGTCTATGCTTATGTTG -3'
(R):5'- GCATGACTTTGACAGTAACCAAC -3'

Sequencing Primer
(F):5'- ACATGTCTATGCTTATGTTGAAGAAG -3'
(R):5'- AGTTGCCTGTTAAGAATCTGCC -3'
Posted On 2018-06-06