Incidental Mutation 'IGL02432:A830018L16Rik'
ID 293173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A830018L16Rik
Ensembl Gene ENSMUSG00000057715
Gene Name RIKEN cDNA A830018L16 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02432
Quality Score
Status
Chromosome 1
Chromosomal Location 11484329-12046125 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11818303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 321 (N321I)
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 probably damaging
Transcript: ENSMUST00000048613
AA Change: N321I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043857
Gene: ENSMUSG00000057715
AA Change: N321I

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: N321I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117421
Gene: ENSMUSG00000057715
AA Change: N321I

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 probably damaging
Transcript: ENSMUST00000179089
AA Change: N321I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
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
4921509C19Rik G A 2: 151,314,481 (GRCm39) T399M probably benign Het
Aimp1 T C 3: 132,379,738 (GRCm39) T135A probably benign Het
Ascc3 T C 10: 50,576,589 (GRCm39) M848T probably damaging Het
Cry2 T C 2: 92,244,012 (GRCm39) D387G probably damaging Het
Daxx G A 17: 34,131,311 (GRCm39) D413N probably benign Het
Gbp6 A T 5: 105,422,228 (GRCm39) V492E probably benign Het
Itpr2 T A 6: 146,226,671 (GRCm39) M1358L probably benign Het
Med13l T A 5: 118,876,465 (GRCm39) D880E possibly damaging Het
Mmd2 A T 5: 142,561,094 (GRCm39) I47N probably damaging Het
Mroh2b G A 15: 4,943,668 (GRCm39) M401I probably benign Het
Nrip1 T C 16: 76,088,668 (GRCm39) K963R probably benign Het
Otop2 A G 11: 115,219,988 (GRCm39) H276R probably damaging Het
Pxn T A 5: 115,683,805 (GRCm39) D79E probably damaging Het
Rho G A 6: 115,909,146 (GRCm39) V61I probably damaging Het
Rtp1 A G 16: 23,250,154 (GRCm39) Y173C probably damaging Het
Slc6a17 T C 3: 107,400,493 (GRCm39) D212G possibly damaging Het
Stpg1 A G 4: 135,235,321 (GRCm39) E54G probably damaging Het
Tas2r119 A G 15: 32,177,853 (GRCm39) T140A probably benign Het
Traf3ip3 C T 1: 192,866,884 (GRCm39) C316Y probably damaging Het
Ttc28 G A 5: 111,371,101 (GRCm39) A517T probably damaging Het
Vmn1r30 T C 6: 58,412,655 (GRCm39) N59S probably benign Het
Vmn2r4 C T 3: 64,313,821 (GRCm39) V387M 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
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
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
Posted On 2015-04-16