Incidental Mutation 'R6838:Rab38'
ID 537955
Institutional Source Beutler Lab
Gene Symbol Rab38
Ensembl Gene ENSMUSG00000030559
Gene Name RAB38, member RAS oncogene family
Synonyms 2310011F14Rik
MMRRC Submission 044946-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.691) question?
Stock # R6838 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 88079481-88140780 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88099917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 144 (D144G)
Ref Sequence ENSEMBL: ENSMUSP00000102877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107256] [ENSMUST00000208478]
AlphaFold Q8QZZ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000107256
AA Change: D144G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102877
Gene: ENSMUSG00000030559
AA Change: D144G

DomainStartEndE-ValueType
RAB 10 180 8.9e-84 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208478
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 97% (64/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 C G 1: 173,291,546 (GRCm39) T317R probably damaging Het
Aqp9 T A 9: 71,019,498 (GRCm39) M321L probably benign Het
Avil G A 10: 126,849,431 (GRCm39) D576N probably benign Het
Bbs1 C T 19: 4,953,880 (GRCm39) M94I possibly damaging Het
Bms1 A G 6: 118,393,455 (GRCm39) V139A probably benign Het
Bscl2 A T 19: 8,818,745 (GRCm39) M57L probably damaging Het
C2cd5 A G 6: 142,975,364 (GRCm39) I794T possibly damaging Het
Cacna1s C T 1: 136,012,175 (GRCm39) T539I possibly damaging Het
Cand1 T C 10: 119,045,935 (GRCm39) K990R probably benign Het
Capn7 A G 14: 31,076,130 (GRCm39) I311V possibly damaging Het
Cd180 A G 13: 102,839,239 (GRCm39) N41D probably benign Het
Cdin1 T C 2: 115,607,471 (GRCm39) F275L possibly damaging Het
Celsr1 G A 15: 85,823,395 (GRCm39) T1671I probably benign Het
Cep135 A T 5: 76,780,062 (GRCm39) Q798L probably damaging Het
Cfap65 T C 1: 74,971,180 (GRCm39) D46G probably benign Het
Cracd A T 5: 77,006,056 (GRCm39) T806S unknown Het
Ddx46 G T 13: 55,787,748 (GRCm39) probably null Het
Dnah7b T C 1: 46,230,948 (GRCm39) L1402P probably damaging Het
Dnah8 A G 17: 30,929,525 (GRCm39) E1402G probably damaging Het
Dock9 A G 14: 121,784,008 (GRCm39) Y1989H possibly damaging Het
Ereg A G 5: 91,236,323 (GRCm39) D50G probably benign Het
Evi5 G T 5: 107,990,027 (GRCm39) T64K possibly damaging Het
Frem3 A C 8: 81,338,660 (GRCm39) T318P probably damaging Het
Gpx1 A G 9: 108,217,139 (GRCm39) D81G possibly damaging Het
Gramd1a T C 7: 30,833,929 (GRCm39) I499V probably benign Het
H4c12 A T 13: 21,934,375 (GRCm39) F101I probably damaging Het
Herc2 T A 7: 55,758,526 (GRCm39) D804E probably damaging Het
Hk1 T C 10: 62,107,437 (GRCm39) E846G probably damaging Het
Iars2 G A 1: 185,061,342 (GRCm39) A48V probably damaging Het
Invs C T 4: 48,283,278 (GRCm39) T10M possibly damaging Het
Ism2 A T 12: 87,326,975 (GRCm39) D321E probably benign Het
Itpr1 T C 6: 108,448,152 (GRCm39) S231P possibly damaging Het
Kif17 A T 4: 138,005,710 (GRCm39) probably null Het
Lvrn A G 18: 47,023,947 (GRCm39) I765V possibly damaging Het
Map4k4 T A 1: 40,015,882 (GRCm39) C108S probably damaging Het
Mapk13 G T 17: 28,996,535 (GRCm39) probably null Het
Mapkapk2 T A 1: 130,985,740 (GRCm39) K95* probably null Het
Mau2 A T 8: 70,491,947 (GRCm39) probably null Het
Mex3a A G 3: 88,444,084 (GRCm39) T387A probably benign Het
Myo5a T C 9: 75,061,165 (GRCm39) probably null Het
Ncbp3 A T 11: 72,964,300 (GRCm39) M417L possibly damaging Het
Nod2 A C 8: 89,397,086 (GRCm39) E810A possibly damaging Het
Nol3 A T 8: 106,006,207 (GRCm39) E152V probably damaging Het
Obox6 T C 7: 15,567,664 (GRCm39) E261G possibly damaging Het
Or2h1 A T 17: 37,404,058 (GRCm39) L236* probably null Het
Or8b12b A C 9: 37,684,348 (GRCm39) Y131S possibly damaging Het
P3h2 T C 16: 25,924,034 (GRCm39) S134G possibly damaging Het
Plxna2 A T 1: 194,487,222 (GRCm39) R1592S possibly damaging Het
Ppp1r12a C T 10: 108,097,137 (GRCm39) S250L possibly damaging Het
Septin1 T C 7: 126,815,894 (GRCm39) M176V probably benign Het
Spata22 C T 11: 73,236,759 (GRCm39) T355M probably benign Het
Tango6 A G 8: 107,468,706 (GRCm39) N734S probably benign Het
Tbc1d17 C A 7: 44,493,738 (GRCm39) R295L probably damaging Het
Thsd7a G T 6: 12,504,074 (GRCm39) P360Q probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnnt1 T C 7: 4,510,406 (GRCm39) N239S possibly damaging Het
Tpst1 A T 5: 130,131,279 (GRCm39) M250L probably benign Het
Urb1 T A 16: 90,578,994 (GRCm39) D689V possibly damaging Het
Usp28 T A 9: 48,911,730 (GRCm39) probably null Het
Vldlr G A 19: 27,225,370 (GRCm39) D816N probably damaging Het
Vmn1r257 T A 7: 22,391,142 (GRCm39) M201L probably benign Het
Wdr1 A G 5: 38,687,374 (GRCm39) V219A probably damaging Het
Xndc1 T C 7: 101,722,476 (GRCm39) V47A possibly damaging Het
Zfp366 C T 13: 99,365,015 (GRCm39) P59S possibly damaging Het
Zfp366 A G 13: 99,382,685 (GRCm39) E616G possibly damaging Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign 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
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
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'- TGCTGACAGGTCAAGAAAGATTTG -3'
(R):5'- TTTGCTAACTCCAAACCACTGGAC -3'

Sequencing Primer
(F):5'- CATGACAAGAGTTTATTACCGGG -3'
(R):5'- CCACTGGACAGAAACATTATTGTC -3'
Posted On 2018-10-18