Incidental Mutation 'IGL01999:1700028P14Rik'
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ID182151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700028P14Rik
Ensembl Gene ENSMUSG00000033053
Gene NameRIKEN cDNA 1700028P14 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #IGL01999
Quality Score
Status
Chromosome19
Chromosomal Location23558760-23652812 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 23592165 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 130 (L130F)
Ref Sequence ENSEMBL: ENSMUSP00000048680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035849]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035849
AA Change: L130F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048680
Gene: ENSMUSG00000033053
AA Change: L130F

DomainStartEndE-ValueType
Pfam:DUF4572 28 219 1.3e-89 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cabs1 C T 5: 87,979,928 T146I possibly damaging Het
Cfap161 C T 7: 83,791,691 V118M probably damaging Het
Chrna7 T C 7: 63,103,791 M327V probably damaging Het
Ddx18 A G 1: 121,561,728 I228T probably benign Het
Dnhd1 T A 7: 105,721,215 S4616T possibly damaging Het
Dsp T A 13: 38,181,186 M515K probably damaging Het
Dysf C T 6: 84,113,618 P1002L probably damaging Het
Exoc7 T C 11: 116,301,100 probably null Het
Gria2 G A 3: 80,732,091 R205W probably damaging Het
Hacd2 T C 16: 35,048,713 probably benign Het
Helz G T 11: 107,602,928 probably benign Het
Hgfac A G 5: 35,044,811 N352S probably benign Het
Mfsd11 T A 11: 116,861,585 F135I probably damaging Het
Mtmr10 A G 7: 64,337,712 N667D probably benign Het
Mtmr9 A C 14: 63,542,454 F62C probably damaging Het
Nelfcd T C 2: 174,423,515 probably benign Het
Nfasc A G 1: 132,605,247 probably benign Het
Npnt C T 3: 132,908,399 R150Q probably damaging Het
Olfr1462 G A 19: 13,191,560 A298T probably damaging Het
Olfr476 C T 7: 107,967,468 R24C probably benign Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pcdhb2 C T 18: 37,296,837 A621V probably damaging Het
Pkd1l1 C A 11: 8,836,291 W1921L probably benign Het
Plcb1 G A 2: 135,346,318 R777Q probably damaging Het
Plch1 G A 3: 63,753,307 P297L probably damaging Het
Ppp2r2b T C 18: 42,645,723 probably benign Het
Ppp6r2 A G 15: 89,269,952 D372G probably benign Het
Rtn4r A G 16: 18,151,457 R250G possibly damaging Het
Sec61a2 A G 2: 5,891,363 probably benign Het
Sema3g G T 14: 31,217,965 V19L probably benign Het
Sult2a7 T C 7: 14,491,723 T113A probably benign Het
Tcp11l1 T C 2: 104,698,569 D128G possibly damaging Het
Tln2 C T 9: 67,392,505 R155Q possibly damaging Het
Vcan A G 13: 89,684,438 L2150P probably damaging Het
Vmn1r40 A C 6: 89,714,966 N255T probably benign Het
Vmn2r68 T C 7: 85,222,231 N615D probably damaging Het
Zdhhc25 A G 15: 88,601,014 E184G probably damaging Het
Other mutations in 1700028P14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:1700028P14Rik APN 19 23652736 utr 5 prime probably benign
IGL01635:1700028P14Rik APN 19 23559015 missense probably damaging 0.98
IGL03011:1700028P14Rik APN 19 23652653 missense unknown
R0036:1700028P14Rik UTSW 19 23616568 unclassified probably benign
R0894:1700028P14Rik UTSW 19 23652698 missense unknown
R3898:1700028P14Rik UTSW 19 23593102 missense probably benign 0.07
R4771:1700028P14Rik UTSW 19 23558973 missense probably damaging 0.98
Posted On2014-05-07