Incidental Mutation 'R6872:Rab44'
ID 536234
Institutional Source Beutler Lab
Gene Symbol Rab44
Ensembl Gene ENSMUSG00000064147
Gene Name RAB44, member RAS oncogene family
Synonyms 9830134C10Rik
MMRRC Submission 044969-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R6872 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 29333119-29367954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29358784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 324 (E324G)
Ref Sequence ENSEMBL: ENSMUSP00000085253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087942]
AlphaFold Q8CB87
Predicted Effect probably benign
Transcript: ENSMUST00000087942
AA Change: E324G

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: E324G

DomainStartEndE-ValueType
coiled coil region 1 68 N/A INTRINSIC
low complexity region 143 157 N/A INTRINSIC
low complexity region 261 276 N/A INTRINSIC
RAB 538 701 1.11e-53 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,349,750 (GRCm39) V336I probably benign Het
Aadacl4fm4 A T 4: 144,397,216 (GRCm39) L172* probably null Het
Abcg3 T C 5: 105,083,860 (GRCm39) T637A probably benign Het
Ap3d1 G A 10: 80,550,156 (GRCm39) R692* probably null Het
Aqp2 C T 15: 99,481,885 (GRCm39) H260Y probably benign Het
Btbd2 C A 10: 80,480,166 (GRCm39) R383L probably damaging Het
Ccdc196 T A 12: 78,244,141 (GRCm39) D31E probably damaging Het
Ccdc24 T C 4: 117,727,123 (GRCm39) T196A probably benign Het
Cdc20b G A 13: 113,220,509 (GRCm39) G463S probably damaging Het
Ceacam5 A T 7: 17,486,212 (GRCm39) R570* probably null Het
Col12a1 A T 9: 79,584,516 (GRCm39) N1357K probably damaging Het
Cpa5 A T 6: 30,614,053 (GRCm39) Q65L probably benign Het
Ddo A C 10: 40,513,414 (GRCm39) M119L possibly damaging Het
Dnah8 G T 17: 30,981,653 (GRCm39) L3058F probably damaging Het
Dnajb8 A G 6: 88,200,022 (GRCm39) N186S probably damaging Het
Dock4 T C 12: 40,862,325 (GRCm39) probably null Het
Ear6 A G 14: 52,091,885 (GRCm39) Y144C probably damaging Het
Eng T A 2: 32,563,287 (GRCm39) I281N probably damaging Het
Fgf2 A G 3: 37,458,860 (GRCm39) K85E probably damaging Het
Fubp1 A T 3: 151,931,783 (GRCm39) Q37L probably benign Het
Gabra2 G T 5: 71,251,882 (GRCm39) P22T probably damaging Het
Gm10401 T C 5: 115,236,245 (GRCm39) probably benign Het
Gsdmc T C 15: 63,650,556 (GRCm39) D275G possibly damaging Het
Iglv3 A G 16: 19,060,034 (GRCm39) I98T probably damaging Het
Lmod1 G T 1: 135,292,879 (GRCm39) R578L probably damaging Het
Mindy2 A G 9: 70,524,044 (GRCm39) probably null Het
Neb G T 2: 52,183,657 (GRCm39) Q1004K probably damaging Het
Nkx2-9 T G 12: 56,658,674 (GRCm39) N180T probably benign Het
Nlrp2 C T 7: 5,311,709 (GRCm39) R922H probably benign Het
Nol4l T C 2: 153,325,737 (GRCm39) E116G probably damaging Het
Or1af1 A T 2: 37,109,989 (GRCm39) M163L possibly damaging Het
Or5ac19 A G 16: 59,089,961 (GRCm39) L23P probably benign Het
Pcdhb20 A C 18: 37,639,218 (GRCm39) E581D probably benign Het
Pidd1 G T 7: 141,019,331 (GRCm39) T750K probably benign Het
Ramp3 T C 11: 6,624,768 (GRCm39) C21R possibly damaging Het
Rpap1 A C 2: 119,605,850 (GRCm39) M345R probably damaging Het
Serpina3k A C 12: 104,310,519 (GRCm39) K350Q probably benign Het
St13 C T 15: 81,250,547 (GRCm39) probably null Het
Stard9 A T 2: 120,544,549 (GRCm39) K4497* probably null Het
Tbx19 A T 1: 164,975,202 (GRCm39) probably null Het
Tgoln1 A G 6: 72,592,538 (GRCm39) V314A possibly damaging Het
Them4 A T 3: 94,231,678 (GRCm39) I172F probably damaging Het
Tmc7 T A 7: 118,146,846 (GRCm39) Y477F probably benign Het
Tmem132a A G 19: 10,840,669 (GRCm39) L421P probably damaging Het
Trim69 A G 2: 121,998,391 (GRCm39) E121G probably damaging Het
Vmn2r11 T G 5: 109,194,976 (GRCm39) R783S possibly damaging Het
Vmn2r62 T A 7: 42,438,412 (GRCm39) L141F probably benign Het
Zbtb7a A G 10: 80,983,905 (GRCm39) N449S possibly damaging Het
Zfhx3 C T 8: 109,527,273 (GRCm39) R1057W probably damaging Het
Zfp180 G T 7: 23,805,306 (GRCm39) C575F probably damaging Het
Zfp462 G A 4: 55,012,326 (GRCm39) A1431T probably benign Het
Zfp592 T C 7: 80,673,576 (GRCm39) V180A probably benign Het
Zfp605 C T 5: 110,275,311 (GRCm39) P143L probably benign Het
Zfp646 T C 7: 127,482,505 (GRCm39) S1561P probably benign Het
Zfp706 T C 15: 37,002,190 (GRCm39) T46A possibly damaging Het
Other mutations in Rab44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Rab44 APN 17 29,358,711 (GRCm39) missense probably benign
IGL01545:Rab44 APN 17 29,366,351 (GRCm39) missense unknown
IGL02314:Rab44 APN 17 29,358,327 (GRCm39) missense probably benign 0.04
IGL02402:Rab44 APN 17 29,359,490 (GRCm39) missense probably benign 0.01
IGL02492:Rab44 APN 17 29,365,023 (GRCm39) splice site probably benign
R0018:Rab44 UTSW 17 29,358,354 (GRCm39) missense probably benign 0.03
R0135:Rab44 UTSW 17 29,357,106 (GRCm39) missense probably benign 0.01
R0193:Rab44 UTSW 17 29,359,281 (GRCm39) missense probably benign
R0398:Rab44 UTSW 17 29,364,344 (GRCm39) splice site probably benign
R0403:Rab44 UTSW 17 29,364,235 (GRCm39) missense probably damaging 1.00
R0608:Rab44 UTSW 17 29,366,317 (GRCm39) splice site probably null
R0631:Rab44 UTSW 17 29,358,118 (GRCm39) missense possibly damaging 0.91
R0762:Rab44 UTSW 17 29,364,244 (GRCm39) missense unknown
R1128:Rab44 UTSW 17 29,359,435 (GRCm39) missense possibly damaging 0.90
R1681:Rab44 UTSW 17 29,359,098 (GRCm39) missense possibly damaging 0.47
R1706:Rab44 UTSW 17 29,357,080 (GRCm39) missense probably damaging 1.00
R2679:Rab44 UTSW 17 29,363,451 (GRCm39) splice site probably null
R3500:Rab44 UTSW 17 29,357,041 (GRCm39) missense probably benign 0.09
R3709:Rab44 UTSW 17 29,358,843 (GRCm39) missense probably benign 0.08
R4497:Rab44 UTSW 17 29,358,871 (GRCm39) missense probably benign 0.04
R4655:Rab44 UTSW 17 29,358,168 (GRCm39) missense probably benign
R4833:Rab44 UTSW 17 29,355,311 (GRCm39) missense probably damaging 1.00
R4850:Rab44 UTSW 17 29,359,063 (GRCm39) missense possibly damaging 0.95
R4926:Rab44 UTSW 17 29,358,529 (GRCm39) missense probably benign 0.01
R5694:Rab44 UTSW 17 29,364,940 (GRCm39) missense unknown
R5694:Rab44 UTSW 17 29,359,474 (GRCm39) missense probably damaging 1.00
R5835:Rab44 UTSW 17 29,367,212 (GRCm39) missense probably benign 0.13
R6146:Rab44 UTSW 17 29,354,391 (GRCm39) start gained probably benign
R6629:Rab44 UTSW 17 29,354,754 (GRCm39) start gained probably benign
R6814:Rab44 UTSW 17 29,358,784 (GRCm39) missense probably benign 0.18
R6865:Rab44 UTSW 17 29,358,201 (GRCm39) missense probably benign
R7032:Rab44 UTSW 17 29,359,438 (GRCm39) missense unknown
R7058:Rab44 UTSW 17 29,357,150 (GRCm39) splice site probably null
R7207:Rab44 UTSW 17 29,357,013 (GRCm39) nonsense probably null
R7218:Rab44 UTSW 17 29,358,418 (GRCm39) missense
R7418:Rab44 UTSW 17 29,359,470 (GRCm39) missense unknown
R7651:Rab44 UTSW 17 29,367,179 (GRCm39) missense unknown
R8336:Rab44 UTSW 17 29,367,249 (GRCm39) makesense probably null
R8406:Rab44 UTSW 17 29,359,294 (GRCm39) missense unknown
R8534:Rab44 UTSW 17 29,363,547 (GRCm39) splice site probably null
R8680:Rab44 UTSW 17 29,358,642 (GRCm39) nonsense probably null
R9267:Rab44 UTSW 17 29,354,338 (GRCm39) start gained probably benign
R9428:Rab44 UTSW 17 29,358,315 (GRCm39) missense
R9438:Rab44 UTSW 17 29,364,226 (GRCm39) missense unknown
R9490:Rab44 UTSW 17 29,354,065 (GRCm39) start gained probably benign
R9573:Rab44 UTSW 17 29,364,277 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGAGATCAGCTTGCTTTTGAGG -3'
(R):5'- TAGCTGCTCCTCTAGACTCTGG -3'

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