Incidental Mutation 'R8554:Rab35'
ID 660015
Institutional Source Beutler Lab
Gene Symbol Rab35
Ensembl Gene ENSMUSG00000029518
Gene Name RAB35, member RAS oncogene family
Synonyms H-ray, 9530019H02Rik, RAB1C
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 115769953-115785217 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to C at 115783690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031492] [ENSMUST00000055408] [ENSMUST00000118576] [ENSMUST00000121746] [ENSMUST00000138885] [ENSMUST00000141976]
AlphaFold Q6PHN9
Predicted Effect probably null
Transcript: ENSMUST00000031492
SMART Domains Protein: ENSMUSP00000031492
Gene: ENSMUSG00000029518

DomainStartEndE-ValueType
RAB 9 171 5.07e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000055408
SMART Domains Protein: ENSMUSP00000053547
Gene: ENSMUSG00000041609

DomainStartEndE-ValueType
low complexity region 47 68 N/A INTRINSIC
Pfam:HAP1_N 97 162 2e-11 PFAM
low complexity region 305 316 N/A INTRINSIC
low complexity region 336 374 N/A INTRINSIC
low complexity region 389 410 N/A INTRINSIC
coiled coil region 467 529 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118576
SMART Domains Protein: ENSMUSP00000112842
Gene: ENSMUSG00000041609

DomainStartEndE-ValueType
coiled coil region 5 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121746
SMART Domains Protein: ENSMUSP00000112949
Gene: ENSMUSG00000041609

DomainStartEndE-ValueType
coiled coil region 5 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138885
SMART Domains Protein: ENSMUSP00000138402
Gene: ENSMUSG00000029518

DomainStartEndE-ValueType
Pfam:Ras 10 42 1e-8 PFAM
Pfam:Miro 10 46 7.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141976
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Crat A G 2: 30,300,035 (GRCm39) V115A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M probably benign Het
Other mutations in Rab35
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0502:Rab35 UTSW 5 115,783,723 (GRCm39) missense probably benign 0.02
R1858:Rab35 UTSW 5 115,778,147 (GRCm39) missense probably damaging 0.98
R1879:Rab35 UTSW 5 115,778,219 (GRCm39) missense probably damaging 1.00
R4480:Rab35 UTSW 5 115,775,823 (GRCm39) nonsense probably null
R4824:Rab35 UTSW 5 115,781,454 (GRCm39) missense possibly damaging 0.95
R4937:Rab35 UTSW 5 115,778,147 (GRCm39) missense probably damaging 0.96
R6062:Rab35 UTSW 5 115,778,147 (GRCm39) missense probably damaging 0.98
R6126:Rab35 UTSW 5 115,783,767 (GRCm39) missense probably benign 0.00
R8515:Rab35 UTSW 5 115,781,467 (GRCm39) missense probably damaging 0.96
R9256:Rab35 UTSW 5 115,778,246 (GRCm39) missense probably damaging 1.00
R9760:Rab35 UTSW 5 115,778,224 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAATGTGTTTTGAGGGCACAC -3'
(R):5'- CGGCACTAAACTGAGACTGTCC -3'

Sequencing Primer
(F):5'- TTTGAGGGCACACAGTTCAC -3'
(R):5'- TAAACTGAGACTGTCCCCCGAG -3'
Posted On 2021-01-18