Incidental Mutation 'IGL01693:3830406C13Rik'
ID104170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 3830406C13Rik
Ensembl Gene ENSMUSG00000033111
Gene NameRIKEN cDNA 3830406C13 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01693
Quality Score
Status
Chromosome14
Chromosomal Location12284173-12303231 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12287380 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 55 (L55P)
Ref Sequence ENSEMBL: ENSMUSP00000153272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112669] [ENSMUST00000163392] [ENSMUST00000223631] [ENSMUST00000223702] [ENSMUST00000223762] [ENSMUST00000223927] [ENSMUST00000224389] [ENSMUST00000225640] [ENSMUST00000225871] [ENSMUST00000225294] [ENSMUST00000225773]
Predicted Effect probably damaging
Transcript: ENSMUST00000112669
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108288
Gene: ENSMUSG00000033111
AA Change: L55P

DomainStartEndE-ValueType
Pfam:DUF4570 1 89 5.5e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163392
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126960
Gene: ENSMUSG00000033111
AA Change: L55P

DomainStartEndE-ValueType
Pfam:DUF4570 1 110 1.1e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000223631
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223697
Predicted Effect probably damaging
Transcript: ENSMUST00000223702
AA Change: L47P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223762
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223927
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224223
Predicted Effect probably damaging
Transcript: ENSMUST00000224389
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224994
Predicted Effect probably damaging
Transcript: ENSMUST00000225640
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000225871
Predicted Effect probably damaging
Transcript: ENSMUST00000225294
AA Change: L55P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225383
Predicted Effect probably damaging
Transcript: ENSMUST00000225773
AA Change: L55P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225739
Predicted Effect probably benign
Transcript: ENSMUST00000225847
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 T A 6: 34,363,336 M145K possibly damaging Het
Arhgap39 T C 15: 76,725,967 D943G probably null Het
Arhgap42 A T 9: 9,006,506 W630R probably damaging Het
Bbs5 T A 2: 69,663,080 S225T probably benign Het
Cacna1f A T X: 7,625,367 N1159Y probably damaging Het
Catsperg1 A G 7: 29,185,098 probably benign Het
Cep97 A T 16: 55,930,594 W20R probably damaging Het
Cmtm8 G A 9: 114,789,705 T160M probably damaging Het
Csf2ra A G 19: 61,225,996 S244P possibly damaging Het
Dnah7b C T 1: 46,358,147 P3913S probably benign Het
Ezh1 C T 11: 101,215,258 M100I probably benign Het
Gadl1 C A 9: 115,949,585 P189Q probably damaging Het
Gcnt2 G A 13: 40,888,073 S236N probably benign Het
Gm17689 G A 9: 36,581,366 T81I probably benign Het
H1fnt A C 15: 98,256,381 Y296D unknown Het
Hmcn1 T A 1: 150,583,280 D5191V probably damaging Het
Mycbp2 A T 14: 103,127,979 D4194E probably damaging Het
Ncf2 C A 1: 152,824,323 T203K probably benign Het
Olfr76 C A 19: 12,120,557 V40L probably benign Het
Phf8 T A X: 151,550,875 V113E probably damaging Het
Pkm G T 9: 59,670,522 K207N probably damaging Het
Slco1a6 G T 6: 142,133,209 S120* probably null Het
Sox10 C T 15: 79,156,273 V195M possibly damaging Het
Swt1 A G 1: 151,422,104 I24T probably benign Het
Thada T C 17: 84,446,644 T300A probably benign Het
Tmem2 A C 19: 21,801,887 I354L probably benign Het
Vmn2r17 T C 5: 109,452,518 Y561H probably damaging Het
Wdr78 T C 4: 103,087,330 probably null Het
Other mutations in 3830406C13Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02956:3830406C13Rik APN 14 12287326 missense probably benign 0.26
R0335:3830406C13Rik UTSW 14 12301266 missense possibly damaging 0.91
R0747:3830406C13Rik UTSW 14 12287287 missense probably benign 0.25
Posted On2014-01-21