Incidental Mutation 'IGL00730:4933416C03Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933416C03Rik
Ensembl Gene ENSMUSG00000074734
Gene NameRIKEN cDNA 4933416C03 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL00730
Quality Score
Chromosomal Location116111664-116113917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 116113026 bp
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

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

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