Incidental Mutation 'R4635:Rab38'
ID 349441
Institutional Source Beutler Lab
Gene Symbol Rab38
Ensembl Gene ENSMUSG00000030559
Gene Name RAB38, member RAS oncogene family
Synonyms 2310011F14Rik
MMRRC Submission 041899-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R4635 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 88079481-88140780 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88099854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 123 (V123A)
Ref Sequence ENSEMBL: ENSMUSP00000102877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107256] [ENSMUST00000208478]
AlphaFold Q8QZZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000107256
AA Change: V123A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102877
Gene: ENSMUSG00000030559
AA Change: V123A

DomainStartEndE-ValueType
RAB 10 180 8.9e-84 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117390
Predicted Effect probably benign
Transcript: ENSMUST00000208478
Meta Mutation Damage Score 0.2595 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (39/40)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,764,927 (GRCm39) K639I probably benign Het
Amer3 C A 1: 34,626,958 (GRCm39) T399K probably damaging Het
Arfgef3 T C 10: 18,510,603 (GRCm39) Y786C probably damaging Het
Arhgef26 A G 3: 62,247,861 (GRCm39) Y315C probably damaging Het
Ccdc121 G A 5: 31,645,435 (GRCm39) R396Q probably benign Het
Chchd6 T C 6: 89,444,448 (GRCm39) E178G probably damaging Het
Chd3 TGCTGCCGCTGCCGC TGCTGCCGCTGCCGCTGCCGC 11: 69,253,013 (GRCm39) probably benign Het
Daam1 T A 12: 72,005,518 (GRCm39) probably null Het
Ddx60 A G 8: 62,490,101 (GRCm39) E1690G probably benign Het
Eme2 G T 17: 25,113,882 (GRCm39) P48T probably benign Het
Ferd3l T C 12: 33,978,835 (GRCm39) M116T probably damaging Het
Gm13141 GGTTTCTTGATGCCA G 4: 147,612,561 (GRCm39) noncoding transcript Het
Gtf2i T C 5: 134,274,028 (GRCm39) N727D probably damaging Het
Hao1 T A 2: 134,365,072 (GRCm39) N185I probably damaging Het
Kifap3 C T 1: 163,642,004 (GRCm39) T195I probably damaging Het
Mag A G 7: 30,606,348 (GRCm39) F363S probably damaging Het
Mef2a A G 7: 66,890,175 (GRCm39) I135T possibly damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Nphs1 T C 7: 30,167,432 (GRCm39) F787L probably benign Het
Nr1h2 A C 7: 44,201,961 (GRCm39) S42A probably benign Het
Odad4 C T 11: 100,442,333 (GRCm39) Q164* probably null Het
Or10ag2 T A 2: 87,249,043 (GRCm39) M217K probably benign Het
Or4a76 A C 2: 89,460,516 (GRCm39) I242S possibly damaging Het
Or51aa2 T C 7: 103,188,355 (GRCm39) I29V probably benign Het
Or5ak23 T A 2: 85,245,208 (GRCm39) N5I probably damaging Het
Scd1 T C 19: 44,395,024 (GRCm39) Y67C probably damaging Het
Scn5a T C 9: 119,358,051 (GRCm39) N730S possibly damaging Het
Shc2 C T 10: 79,462,120 (GRCm39) C341Y probably benign Het
Tfdp2 T A 9: 96,179,727 (GRCm39) N113K probably damaging Het
Tmc3 A G 7: 83,234,290 (GRCm39) probably benign Het
Top6bl A G 19: 4,748,524 (GRCm39) probably benign Het
Tox A T 4: 6,990,501 (GRCm39) probably benign Het
Tspoap1 A G 11: 87,668,683 (GRCm39) K1319E probably benign Het
Vit G A 17: 78,881,641 (GRCm39) V135I probably benign Het
Vwa5b1 T G 4: 138,338,150 (GRCm39) S71R possibly damaging Het
Other mutations in Rab38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Rab38 APN 7 88,079,740 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTGCTGACAGGTCAAGAAAGATTTG -3'
(R):5'- TTGCTAACTCCAAACCACTGG -3'

Sequencing Primer
(F):5'- GGAAACATGACAAGAGTTTATTACCG -3'
(R):5'- CCACTGGACAGAAACATTATTGTC -3'
Posted On 2015-10-08