Incidental Mutation 'IGL01793:Rab40c'
ID155278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab40c
Ensembl Gene ENSMUSG00000025730
Gene NameRab40C, member RAS oncogene family
SynonymsRAR3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.186) question?
Stock #IGL01793
Quality Score
Status
Chromosome17
Chromosomal Location25882114-25919727 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 25884622 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 156 (L156F)
Ref Sequence ENSEMBL: ENSMUSP00000127868 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026826] [ENSMUST00000095487] [ENSMUST00000163356] [ENSMUST00000164738] [ENSMUST00000164982] [ENSMUST00000166146] [ENSMUST00000167018] [ENSMUST00000167626] [ENSMUST00000176696] [ENSMUST00000179998]
Predicted Effect probably damaging
Transcript: ENSMUST00000026826
AA Change: L175F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026826
Gene: ENSMUSG00000025730
AA Change: L175F

DomainStartEndE-ValueType
RAB 15 177 9.2e-77 SMART
SOCS 183 226 1.6e-18 SMART
SOCS_box 189 225 7.2e-10 SMART
low complexity region 238 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095487
SMART Domains Protein: ENSMUSP00000093141
Gene: ENSMUSG00000071192

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
WAP 32 82 4.04e-3 SMART
KAZAL 119 161 1.96e-2 SMART
IGc2 202 274 2.54e-14 SMART
KU 301 356 4.2e-3 SMART
KU 361 414 1.82e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163356
SMART Domains Protein: ENSMUSP00000130209
Gene: ENSMUSG00000025731

DomainStartEndE-ValueType
Pfam:DUF938 1 172 1.6e-74 PFAM
Pfam:Methyltransf_25 31 133 9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164738
SMART Domains Protein: ENSMUSP00000130093
Gene: ENSMUSG00000025730

DomainStartEndE-ValueType
Pfam:Arf 5 110 5.2e-7 PFAM
Pfam:Miro 16 111 4.2e-12 PFAM
Pfam:Ras 16 111 2.6e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164982
AA Change: L156F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127868
Gene: ENSMUSG00000025730
AA Change: L156F

DomainStartEndE-ValueType
RAB 15 158 5.56e-54 SMART
SOCS 164 207 2.56e-16 SMART
SOCS_box 170 206 9.29e-6 SMART
low complexity region 219 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166146
SMART Domains Protein: ENSMUSP00000132355
Gene: ENSMUSG00000025730

DomainStartEndE-ValueType
SCOP:d3raba_ 10 43 3e-9 SMART
Blast:RAB 15 49 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166619
Predicted Effect probably damaging
Transcript: ENSMUST00000167018
AA Change: L175F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131055
Gene: ENSMUSG00000025730
AA Change: L175F

DomainStartEndE-ValueType
RAB 15 177 1.88e-74 SMART
SOCS 183 226 2.56e-16 SMART
SOCS_box 189 225 9.29e-6 SMART
low complexity region 238 262 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167626
AA Change: L175F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127546
Gene: ENSMUSG00000025730
AA Change: L175F

DomainStartEndE-ValueType
RAB 15 177 9.2e-77 SMART
SOCS 183 226 1.6e-18 SMART
SOCS_box 189 225 7.2e-10 SMART
low complexity region 238 262 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172168
Predicted Effect probably benign
Transcript: ENSMUST00000176696
SMART Domains Protein: ENSMUSP00000135083
Gene: ENSMUSG00000071192

DomainStartEndE-ValueType
WAP 2 48 8.8e-2 SMART
KAZAL 85 127 1.96e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000179998
AA Change: L175F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136612
Gene: ENSMUSG00000025730
AA Change: L175F

DomainStartEndE-ValueType
RAB 15 177 9.4e-77 SMART
SOCS 183 226 1.7e-18 SMART
SOCS_box 189 225 7.3e-10 SMART
low complexity region 238 262 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180868
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox2 A G 1: 58,336,624 I871V possibly damaging Het
Bbs7 A T 3: 36,605,682 probably null Het
D930020B18Rik T C 10: 121,671,831 I158T probably damaging Het
Drc7 T C 8: 95,071,277 I441T probably benign Het
Etl4 T C 2: 20,743,898 I147T possibly damaging Het
Fat1 G A 8: 44,989,112 M1150I probably benign Het
Fbn1 T C 2: 125,387,293 S523G possibly damaging Het
Gramd1a C T 7: 31,134,413 probably null Het
Hc A G 2: 35,028,190 Y694H probably damaging Het
Kif6 T A 17: 49,624,493 I73N probably damaging Het
Large1 A G 8: 72,859,181 probably benign Het
Luzp2 G T 7: 55,172,249 L171F probably damaging Het
Naaladl1 C A 19: 6,109,631 probably null Het
Otop1 G A 5: 38,299,871 A325T possibly damaging Het
Parp8 T A 13: 116,910,879 Y219F probably damaging Het
Pkp3 A G 7: 141,088,904 I660V probably benign Het
Plin3 T C 17: 56,281,540 N238S probably benign Het
Ppef2 A T 5: 92,246,756 D186E probably damaging Het
Scnn1a T C 6: 125,343,703 V547A probably benign Het
Spag6l A G 16: 16,781,857 V247A probably damaging Het
Syne1 T C 10: 5,352,191 E853G possibly damaging Het
Synj2 T A 17: 6,038,046 H1457Q probably benign Het
Synj2 C T 17: 6,027,225 R460* probably null Het
Syt1 T C 10: 108,583,975 D275G possibly damaging Het
Tmx1 A G 12: 70,458,787 D108G probably benign Het
Vmn1r180 T C 7: 23,953,243 V277A probably benign Het
Vmn1r83 C T 7: 12,321,577 M184I probably benign Het
Zfp750 G T 11: 121,513,984 P22T probably damaging Het
Zscan2 A G 7: 80,874,944 I138V probably null Het
Other mutations in Rab40c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Rab40c APN 17 25885085 missense probably damaging 1.00
IGL01936:Rab40c APN 17 25884670 missense probably damaging 0.99
R0089:Rab40c UTSW 17 25885148 missense probably damaging 1.00
R0456:Rab40c UTSW 17 25884657 missense possibly damaging 0.68
R0837:Rab40c UTSW 17 25884693 missense probably damaging 1.00
R1547:Rab40c UTSW 17 25883750 missense probably damaging 1.00
R5488:Rab40c UTSW 17 25890669 missense probably damaging 0.98
R5955:Rab40c UTSW 17 25884657 missense probably damaging 0.98
R7047:Rab40c UTSW 17 25919484 missense probably damaging 0.98
X0028:Rab40c UTSW 17 25890708 splice site probably null
Posted On2014-02-04