Incidental Mutation 'R0762:Rab44'
ID 72479
Institutional Source Beutler Lab
Gene Symbol Rab44
Ensembl Gene ENSMUSG00000064147
Gene Name RAB44, member RAS oncogene family
Synonyms 9830134C10Rik
MMRRC Submission 038942-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R0762 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 29333119-29367954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29364244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 606 (L606P)
Ref Sequence ENSEMBL: ENSMUSP00000085253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087942]
AlphaFold Q8CB87
Predicted Effect unknown
Transcript: ENSMUST00000087942
AA Change: L606P
SMART Domains Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: L606P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139931
Meta Mutation Damage Score 0.1455 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 93.9%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,482,667 (GRCm39) N475I probably damaging Het
Adar T C 3: 89,647,290 (GRCm39) probably benign Het
Aldh3b3 A T 19: 4,015,747 (GRCm39) probably null Het
Amtn C T 5: 88,532,859 (GRCm39) T158I possibly damaging Het
Ap1g2 A G 14: 55,337,868 (GRCm39) probably benign Het
Arhgef3 A G 14: 27,119,584 (GRCm39) Y318C probably damaging Het
Atg2b A C 12: 105,641,229 (GRCm39) V69G possibly damaging Het
Bbx G A 16: 50,045,529 (GRCm39) T236I possibly damaging Het
Bcl11b C T 12: 107,931,922 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,889,377 (GRCm39) I794V probably benign Het
Ccdc88a C T 11: 29,413,112 (GRCm39) probably benign Het
Cdhr3 C A 12: 33,110,300 (GRCm39) R328L probably benign Het
Ces2e T A 8: 105,656,496 (GRCm39) M242K probably damaging Het
Col12a1 A G 9: 79,588,656 (GRCm39) probably benign Het
Col3a1 T C 1: 45,360,686 (GRCm39) S39P unknown Het
Cplane1 A G 15: 8,247,900 (GRCm39) probably benign Het
Cyp2a5 T A 7: 26,538,298 (GRCm39) Y220* probably null Het
Dcc T A 18: 71,475,776 (GRCm39) probably benign Het
Dnajb8 A G 6: 88,200,036 (GRCm39) T191A probably damaging Het
Ephx2 A T 14: 66,339,628 (GRCm39) F199I probably damaging Het
Fancd2 A G 6: 113,551,619 (GRCm39) K1062E probably benign Het
Fbxo33 A G 12: 59,251,285 (GRCm39) V410A probably benign Het
Gars1 T G 6: 55,054,565 (GRCm39) probably null Het
Git1 A C 11: 77,390,660 (GRCm39) D132A possibly damaging Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Gucy1a1 T C 3: 82,002,203 (GRCm39) T44A unknown Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Ifnlr1 A G 4: 135,428,640 (GRCm39) K156E possibly damaging Het
Klf13 T C 7: 63,541,371 (GRCm39) N15S probably benign Het
Krt77 T C 15: 101,769,561 (GRCm39) probably null Het
Ldc1 A G 4: 130,115,417 (GRCm39) S44P probably damaging Het
Map4 C A 9: 109,867,546 (GRCm39) probably benign Het
Mthfr T C 4: 148,139,900 (GRCm39) I623T possibly damaging Het
Myo7b T A 18: 32,116,997 (GRCm39) T908S probably benign Het
Nbeal2 T G 9: 110,472,876 (GRCm39) probably benign Het
Nwd2 T G 5: 63,957,757 (GRCm39) F362L probably benign Het
Pcm1 A T 8: 41,714,057 (GRCm39) R208W probably damaging Het
Pkd2l1 T C 19: 44,138,909 (GRCm39) D647G probably benign Het
Plbd1 C T 6: 136,618,145 (GRCm39) V24M probably damaging Het
Polr2a G A 11: 69,625,943 (GRCm39) P1698S unknown Het
Prss12 T C 3: 123,279,153 (GRCm39) I410T probably damaging Het
Ptpre A G 7: 135,280,964 (GRCm39) N565S probably damaging Het
Rbm10 C T X: 20,503,903 (GRCm39) probably benign Het
Rhd C T 4: 134,603,612 (GRCm39) probably benign Het
Rspo3 T A 10: 29,375,917 (GRCm39) probably benign Het
Sdccag8 T A 1: 176,773,710 (GRCm39) N555K probably benign Het
Skint6 T A 4: 112,722,848 (GRCm39) probably benign Het
Slc22a20 G A 19: 6,036,036 (GRCm39) P45S probably damaging Het
Slc5a2 A G 7: 127,866,654 (GRCm39) Y124C probably damaging Het
Spats2l T C 1: 57,925,043 (GRCm39) L127P possibly damaging Het
Taar8a T A 10: 23,952,975 (GRCm39) I193N probably benign Het
Ten1 C T 11: 116,107,510 (GRCm39) probably benign Het
Tfb2m T C 1: 179,373,398 (GRCm39) E100G probably damaging Het
Tom1 C T 8: 75,778,934 (GRCm39) probably benign Het
Vps52 G T 17: 34,178,985 (GRCm39) R171L probably damaging Het
Zcwpw2 A T 9: 117,843,182 (GRCm39) noncoding transcript Het
Zfhx4 G A 3: 5,468,880 (GRCm39) E3013K probably damaging Het
Zfp267 G A 3: 36,220,016 (GRCm39) D680N possibly damaging Het
Zfp777 C T 6: 48,006,294 (GRCm39) V411M probably 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
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 29,359,474 (GRCm39) missense probably damaging 1.00
R5694:Rab44 UTSW 17 29,364,940 (GRCm39) missense unknown
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
R6872:Rab44 UTSW 17 29,358,784 (GRCm39) missense probably benign 0.18
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'- ACATGGGAGATGCCCTAAGTGACC -3'
(R):5'- GGAAGCCTTTCTGGATTGTTCTGCC -3'

Sequencing Primer
(F):5'- GATGCCCTAAGTGACCCCTAAATAC -3'
(R):5'- gctgagctgtctctctagcc -3'
Posted On 2013-09-30