Incidental Mutation 'IGL01678:Rab38'
ID 103700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab38
Ensembl Gene ENSMUSG00000030559
Gene Name RAB38, member RAS oncogene family
Synonyms 2310011F14Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.691) question?
Stock # IGL01678
Quality Score
Status
Chromosome 7
Chromosomal Location 88079481-88140780 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88079740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 44 (V44E)
Ref Sequence ENSEMBL: ENSMUSP00000146448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107256] [ENSMUST00000208478]
AlphaFold Q8QZZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000107256
AA Change: V44E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102877
Gene: ENSMUSG00000030559
AA Change: V44E

DomainStartEndE-ValueType
RAB 10 180 8.9e-84 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000208478
AA Change: V44E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous mutation display oculocutaneous albinism, abnormal lung alveolar structure and aberrant pulmonary surfactant homeostasis. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Spontaneous(1)

Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,443 (GRCm39) M236K probably benign Het
Abcc1 T A 16: 14,222,883 (GRCm39) M186K probably null Het
Adamts3 T C 5: 89,855,715 (GRCm39) N385S probably damaging Het
Adamts6 T C 13: 104,450,196 (GRCm39) V299A probably damaging Het
Angel1 T C 12: 86,763,800 (GRCm39) E500G probably benign Het
Car9 T C 4: 43,512,941 (GRCm39) probably benign Het
Colec11 A G 12: 28,644,867 (GRCm39) F209S probably damaging Het
Dnaaf10 T C 11: 17,182,790 (GRCm39) V317A probably benign Het
Dock10 A G 1: 80,521,069 (GRCm39) Y1179H probably damaging Het
Ece1 T A 4: 137,690,044 (GRCm39) W697R probably damaging Het
Eml2 T A 7: 18,920,047 (GRCm39) M117K probably benign Het
Flii G T 11: 60,607,672 (GRCm39) probably benign Het
Frmpd1 T A 4: 45,243,717 (GRCm39) D63E probably damaging Het
Ftmt A T 18: 52,465,206 (GRCm39) H174L probably damaging Het
Gpr37l1 A G 1: 135,094,791 (GRCm39) V151A probably damaging Het
Inppl1 T C 7: 101,481,803 (GRCm39) T180A probably benign Het
Klhdc4 T C 8: 122,523,677 (GRCm39) D513G possibly damaging Het
Klrb1a A G 6: 128,595,411 (GRCm39) probably benign Het
Nit1 A G 1: 171,170,262 (GRCm39) V270A probably damaging Het
Or6c5 A C 10: 129,074,537 (GRCm39) D173A possibly damaging Het
Phox2b T A 5: 67,256,262 (GRCm39) Y8F probably damaging Het
Psg20 T A 7: 18,414,795 (GRCm39) S364C probably damaging Het
Rapgef4 T C 2: 72,072,569 (GRCm39) probably benign Het
Ror1 C T 4: 100,283,165 (GRCm39) P410L possibly damaging Het
Rptn A G 3: 93,304,118 (GRCm39) N484D probably benign Het
Sirpb1a G T 3: 15,476,370 (GRCm39) S142R probably damaging Het
Smox G A 2: 131,353,979 (GRCm39) R17H possibly damaging Het
Top6bl T A 19: 4,722,193 (GRCm39) I76L possibly damaging Het
Trpm7 A T 2: 126,658,719 (GRCm39) C1146S probably damaging Het
Upf3a C T 8: 13,841,930 (GRCm39) A155V probably benign Het
Vmn1r212 A T 13: 23,068,081 (GRCm39) V84D probably damaging Het
Vmn2r40 T C 7: 8,923,105 (GRCm39) N419D probably damaging Het
Zfp143 C A 7: 109,679,558 (GRCm39) probably benign Het
Zmat4 T A 8: 24,392,064 (GRCm39) C7S probably damaging Het
Other mutations in Rab38
AlleleSourceChrCoordTypePredicted EffectPPH Score
Fenrir UTSW 7 88,099,749 (GRCm39) missense probably damaging 1.00
3370:Rab38 UTSW 7 88,139,859 (GRCm39) missense probably benign 0.00
R0130:Rab38 UTSW 7 88,099,749 (GRCm39) missense probably damaging 1.00
R1842:Rab38 UTSW 7 88,099,730 (GRCm39) missense possibly damaging 0.88
R1893:Rab38 UTSW 7 88,139,924 (GRCm39) missense probably benign
R4448:Rab38 UTSW 7 88,139,833 (GRCm39) missense probably benign 0.01
R4635:Rab38 UTSW 7 88,099,854 (GRCm39) missense probably damaging 0.99
R5555:Rab38 UTSW 7 88,079,695 (GRCm39) missense probably damaging 0.99
R6415:Rab38 UTSW 7 88,079,748 (GRCm39) missense possibly damaging 0.95
R6838:Rab38 UTSW 7 88,099,917 (GRCm39) missense possibly damaging 0.94
R7383:Rab38 UTSW 7 88,079,637 (GRCm39) missense possibly damaging 0.95
R7650:Rab38 UTSW 7 88,079,637 (GRCm39) missense possibly damaging 0.95
R9238:Rab38 UTSW 7 88,099,954 (GRCm39) missense possibly damaging 0.80
Posted On 2014-01-21