Incidental Mutation 'IGL01989:2310057J18Rik'
ID182822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2310057J18Rik
Ensembl Gene ENSMUSG00000015519
Gene NameRIKEN cDNA 2310057J18 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL01989
Quality Score
Status
Chromosome10
Chromosomal Location28972288-28986303 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 28986270 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 8 (V8D)
Ref Sequence ENSEMBL: ENSMUSP00000015663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015663] [ENSMUST00000140558] [ENSMUST00000152363]
Predicted Effect probably damaging
Transcript: ENSMUST00000015663
AA Change: V8D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000015663
Gene: ENSMUSG00000015519
AA Change: V8D

DomainStartEndE-ValueType
Pfam:DUF781 8 337 4.5e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140558
SMART Domains Protein: ENSMUSP00000121044
Gene: ENSMUSG00000015519

DomainStartEndE-ValueType
Pfam:DUF781 1 228 5.1e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152363
AA Change: V8D

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118049
Gene: ENSMUSG00000015519
AA Change: V8D

DomainStartEndE-ValueType
Pfam:DUF781 1 237 1.9e-116 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215790
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb15 A G 6: 24,565,944 T299A probably damaging Het
Asph A T 4: 9,602,462 probably benign Het
Cadm3 G A 1: 173,338,011 probably benign Het
Cep164 G A 9: 45,793,015 probably benign Het
Ces2c C A 8: 104,849,743 N129K probably damaging Het
Chdh C A 14: 30,031,731 P199Q possibly damaging Het
Dnah7b T C 1: 46,289,534 V3142A probably damaging Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Dock2 G T 11: 34,268,053 N1172K probably benign Het
Dppa5a T A 9: 78,367,821 E66D probably benign Het
F5 A G 1: 164,176,307 S224G probably benign Het
Fign T C 2: 63,980,450 T159A probably benign Het
Fsip2 A T 2: 82,993,867 D6648V probably damaging Het
Gbp2b A T 3: 142,611,440 E519V probably benign Het
Hdac10 A G 15: 89,125,343 L462P probably damaging Het
Hecw2 A G 1: 53,840,792 L1286S probably damaging Het
Hnrnpll A G 17: 80,038,740 V364A probably benign Het
Hnrnpul2 A G 19: 8,823,628 T282A probably damaging Het
Il12a T A 3: 68,691,576 probably benign Het
Insl5 C A 4: 103,026,641 V28L probably benign Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Lrfn2 A G 17: 49,071,085 D398G probably damaging Het
Lrp1 C T 10: 127,578,129 D1137N probably damaging Het
Mettl18 C A 1: 163,996,303 D64E probably benign Het
Mrpl3 A G 9: 105,071,479 T245A probably benign Het
Mrps18c C A 5: 100,801,909 P52Q probably damaging Het
Myh3 A T 11: 67,086,655 D377V probably damaging Het
N4bp1 C A 8: 86,848,487 V727L probably damaging Het
Npffr2 A G 5: 89,582,972 T254A probably benign Het
Nsfl1c C A 2: 151,500,729 T73K probably damaging Het
Olfr160 C T 9: 37,711,836 V148I probably damaging Het
Plxna1 C T 6: 89,329,414 W1442* probably null Het
Serpina3n T A 12: 104,413,491 M381K probably benign Het
Shank3 C T 15: 89,503,299 probably benign Het
Smtnl1 T C 2: 84,818,470 N147D probably benign Het
Sprr2j-ps T C 3: 92,419,105 S96P unknown Het
Ssh2 A G 11: 77,453,685 E832G possibly damaging Het
Stxbp1 T C 2: 32,812,064 D207G probably benign Het
Sult1c1 A T 17: 53,974,027 M16K probably benign Het
Tmem247 A G 17: 86,918,291 E53G probably damaging Het
Tmem86a A T 7: 47,053,439 I105F probably benign Het
Tph2 A G 10: 115,146,016 S304P probably benign Het
Ttn T C 2: 76,778,539 D17711G probably damaging Het
Urb1 A T 16: 90,769,586 probably benign Het
Vcan T A 13: 89,689,359 I1729L possibly damaging Het
Vmn2r90 T A 17: 17,713,232 Y351* probably null Het
Wfdc5 C T 2: 164,178,731 probably null Het
Wnt3 G A 11: 103,812,407 D239N probably benign Het
Zbtb8b T A 4: 129,432,388 E295V probably damaging Het
Zfp458 T C 13: 67,259,627 T52A probably damaging Het
Other mutations in 2310057J18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:2310057J18Rik APN 10 28973958 nonsense probably null
IGL01123:2310057J18Rik APN 10 28973938 missense probably damaging 1.00
IGL02268:2310057J18Rik APN 10 28986246 missense probably benign 0.09
R0114:2310057J18Rik UTSW 10 28985982 splice site probably benign
R1585:2310057J18Rik UTSW 10 28982522 missense possibly damaging 0.95
R1642:2310057J18Rik UTSW 10 28986237 missense probably benign 0.44
R2271:2310057J18Rik UTSW 10 28981579 missense probably damaging 0.98
R4692:2310057J18Rik UTSW 10 28973886 nonsense probably null
R4801:2310057J18Rik UTSW 10 28983926 critical splice donor site probably null
R4802:2310057J18Rik UTSW 10 28983926 critical splice donor site probably null
R5548:2310057J18Rik UTSW 10 28973867 missense probably benign 0.06
R5677:2310057J18Rik UTSW 10 28986229 missense probably benign 0.00
X0060:2310057J18Rik UTSW 10 28982510 missense possibly damaging 0.61
Posted On2014-05-07