Incidental Mutation 'IGL00942:4933416C03Rik'
ID28353
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: 0.130) question?
Stock #IGL00942
Quality Score
Status
Chromosome10
Chromosomal Location116111664-116113917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116113436 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 62 (S62P)
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 possibly damaging
Transcript: ENSMUST00000099261
AA Change: S62P

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096867
Gene: ENSMUSG00000074734
AA Change: S62P

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
MGI Phenotype NO_PHENOTYPE,Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects.
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 A C 5: 62,698,389 L568* probably null Het
Arfgef2 G A 2: 166,885,853 V1574M probably damaging Het
Arhgef12 C T 9: 42,982,000 R969H probably damaging Het
Cacng1 A T 11: 107,704,369 F127L probably benign Het
Cntnap5c T C 17: 57,769,598 V10A probably benign Het
Crtac1 T G 19: 42,323,794 D160A probably damaging Het
Csmd3 C T 15: 47,847,106 probably null Het
Grin3a A G 4: 49,770,589 F728L probably damaging Het
Hecw1 C T 13: 14,340,740 probably benign Het
Hist1h3a T C 13: 23,761,938 probably benign Het
Iyd C T 10: 3,554,070 C239F probably damaging Het
Madd A G 2: 91,170,578 V486A probably damaging Het
Map3k7 A G 4: 32,019,539 D533G probably damaging Het
Matk A G 10: 81,258,294 D20G probably benign Het
Mphosph10 A G 7: 64,389,755 S156P probably benign Het
Mtif2 G A 11: 29,538,753 E356K probably damaging Het
Ndufb10 T C 17: 24,724,184 probably null Het
Nipal3 A T 4: 135,468,593 L233Q possibly damaging Het
Olfr860 T C 9: 19,846,259 Y120C probably damaging Het
Prss32 T A 17: 23,859,160 C273* probably null Het
Prtg T C 9: 72,892,340 S807P possibly damaging Het
Ric3 T G 7: 109,054,412 E157D probably damaging Het
Ric3 T A 7: 109,054,413 E157V probably damaging Het
Slc16a14 G A 1: 84,922,871 T131I probably damaging Het
Slc1a2 A T 2: 102,739,814 N137Y probably damaging Het
Slc25a27 T C 17: 43,664,089 I94V probably benign Het
Slco1a1 G A 6: 141,946,628 T4I probably benign Het
Slf1 A T 13: 77,043,947 F923I possibly damaging Het
Ttll12 A C 15: 83,582,448 V306G possibly damaging Het
Tulp2 G A 7: 45,516,268 V97I possibly damaging Het
Vmn2r65 T G 7: 84,943,553 Q482P probably damaging Het
Wdr24 T A 17: 25,826,621 N443K probably benign Het
Other mutations in 4933416C03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:4933416C03Rik APN 10 116113026 missense probably benign 0.13
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 On2013-04-17