Incidental Mutation 'IGL00730:4933416C03Rik'
ID8485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933416C03Rik
Ensembl Gene ENSMUSG00000074734
Gene NameRIKEN cDNA 4933416C03 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL00730
Quality Score
Status
Chromosome10
Chromosomal Location116111664-116113917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 116113026 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 198 (D198E)
Ref Sequence ENSEMBL: ENSMUSP00000096867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063470] [ENSMUST00000099261]
Predicted Effect probably benign
Transcript: ENSMUST00000063470
SMART Domains Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
PTPc 391 648 3.74e-108 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099261
AA Change: D198E

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000096867
Gene: ENSMUSG00000074734
AA Change: D198E

DomainStartEndE-ValueType
TAFII55_N 12 190 2.27e-88 SMART
coiled coil region 241 344 N/A INTRINSIC
low complexity region 351 361 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220165
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 A T 18: 80,128,032 I1054N probably benign Het
Carf C T 1: 60,147,418 Q511* probably null Het
Dnaaf5 G T 5: 139,151,668 probably null Het
Gen1 T C 12: 11,261,067 N55D probably damaging Het
Gsdmc4 T A 15: 63,897,804 R190W probably damaging Het
Hsd3b5 A T 3: 98,630,057 S48T probably benign Het
Lactb2 T G 1: 13,647,516 probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Pdzk1 A G 3: 96,868,426 D370G probably benign Het
Qtrt1 G T 9: 21,419,549 probably null Het
Tmem63c T A 12: 87,077,206 L486Q probably benign Het
Top2b A G 14: 16,389,831 Y223C probably damaging Het
Trpm2 T C 10: 77,942,915 probably null Het
Other mutations in 4933416C03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:4933416C03Rik APN 10 116113436 missense possibly damaging 0.91
R0325:4933416C03Rik UTSW 10 116113569 missense probably damaging 1.00
R0467:4933416C03Rik UTSW 10 116113153 missense probably benign 0.00
R0534:4933416C03Rik UTSW 10 116112802 missense possibly damaging 0.86
R1068:4933416C03Rik UTSW 10 116113454 missense probably damaging 0.97
R1102:4933416C03Rik UTSW 10 116113394 missense probably damaging 1.00
R1421:4933416C03Rik UTSW 10 116113438 missense probably damaging 1.00
R1601:4933416C03Rik UTSW 10 116113616 missense probably damaging 0.99
R1834:4933416C03Rik UTSW 10 116112665 missense probably benign 0.15
R3930:4933416C03Rik UTSW 10 116112635 missense possibly damaging 0.71
R5799:4933416C03Rik UTSW 10 116112769 missense probably damaging 1.00
R5908:4933416C03Rik UTSW 10 116113228 missense probably benign 0.04
R7765:4933416C03Rik UTSW 10 116113253 nonsense probably null
Posted On2012-12-06