Incidental Mutation 'R5694:Rab44'
ID 443842
Institutional Source Beutler Lab
Gene Symbol Rab44
Ensembl Gene ENSMUSG00000064147
Gene Name RAB44, member RAS oncogene family
Synonyms 9830134C10Rik
MMRRC Submission 043325-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5694 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 29333119-29367954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29359474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 554 (L554P)
Ref Sequence ENSEMBL: ENSMUSP00000085253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087942]
AlphaFold Q8CB87
Predicted Effect probably damaging
Transcript: ENSMUST00000087942
AA Change: L554P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: L554P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147311
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,546,673 (GRCm39) I1353N probably damaging Het
Actr1a C A 19: 46,384,157 (GRCm39) probably benign Het
Adamts14 A T 10: 61,065,431 (GRCm39) M356K probably benign Het
Adamtsl2 A G 2: 26,971,736 (GRCm39) H7R probably benign Het
Angptl2 T C 2: 33,118,628 (GRCm39) V134A probably damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Astn2 T C 4: 65,868,375 (GRCm39) D488G probably damaging Het
Cat A T 2: 103,303,339 (GRCm39) V146E probably damaging Het
Dmxl1 T C 18: 50,027,324 (GRCm39) V2144A probably damaging Het
Efcab5 T G 11: 77,079,701 (GRCm39) D15A probably benign Het
Epha10 C T 4: 124,796,446 (GRCm39) A385V unknown Het
Erg C A 16: 95,161,890 (GRCm39) E388D probably benign Het
Fbxo10 T A 4: 45,035,970 (GRCm39) I931F probably damaging Het
Frem1 A G 4: 82,912,353 (GRCm39) L673P probably damaging Het
Gm4922 A C 10: 18,660,035 (GRCm39) I229S possibly damaging Het
Gnptab T A 10: 88,250,348 (GRCm39) D153E probably benign Het
Htr7 T C 19: 36,034,521 (GRCm39) M45V probably benign Het
Hycc1 C A 5: 24,196,794 (GRCm39) L31F probably damaging Het
Igkv4-51 C T 6: 69,658,911 (GRCm39) V5M probably damaging Het
Ints7 G A 1: 191,318,730 (GRCm39) E156K probably damaging Het
Map3k21 A G 8: 126,671,507 (GRCm39) T932A probably benign Het
Mapk1 T G 16: 16,836,333 (GRCm39) D160E probably benign Het
Mast4 A T 13: 102,910,701 (GRCm39) Y479* probably null Het
Meig1 T A 2: 3,412,999 (GRCm39) K7N probably damaging Het
Mthfd1l T A 10: 3,985,239 (GRCm39) D548E possibly damaging Het
Myo16 A G 8: 10,619,606 (GRCm39) R1386G probably benign Het
Nphs2 T C 1: 156,153,607 (GRCm39) S353P probably benign Het
Or12j4 T C 7: 140,046,644 (GRCm39) F177L probably benign Het
Or8b1 T A 9: 38,399,532 (GRCm39) I69K probably damaging Het
Pcdha9 G T 18: 37,131,425 (GRCm39) V165L probably benign Het
Pde3a T A 6: 141,196,228 (GRCm39) S305T possibly damaging Het
Phf14 C A 6: 11,990,124 (GRCm39) L718I possibly damaging Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Rnf222 A G 11: 68,783,723 (GRCm39) T97A probably benign Het
Rnpepl1 T C 1: 92,846,663 (GRCm39) S522P probably benign Het
Serinc5 A G 13: 92,825,302 (GRCm39) I244V probably benign Het
Serpinb10 A T 1: 107,463,187 (GRCm39) probably null Het
Siglech T A 7: 55,418,404 (GRCm39) F124Y probably damaging Het
Smarcc2 A T 10: 128,319,996 (GRCm39) I790L probably benign Het
Sos2 C A 12: 69,637,689 (GRCm39) R1007S probably damaging Het
Stk4 C T 2: 163,942,484 (GRCm39) T372M possibly damaging Het
Tbc1d10c A T 19: 4,234,963 (GRCm39) L366H probably damaging Het
Tor4a T C 2: 25,084,932 (GRCm39) T324A probably benign Het
Trim12a C A 7: 103,956,450 (GRCm39) C30F probably damaging Het
Ttll3 G A 6: 113,376,669 (GRCm39) V350M probably damaging Het
Uggt1 A T 1: 36,218,737 (GRCm39) D63E probably damaging Het
Unc5b G A 10: 60,609,526 (GRCm39) T590I probably benign Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wls A C 3: 159,545,624 (GRCm39) I16L probably benign Het
Zfp101 T C 17: 33,599,919 (GRCm39) I612M probably benign Het
Zfp677 C A 17: 21,618,021 (GRCm39) D359E 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
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
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'- GTTCAGGTGGAGAGCAAGTC -3'
(R):5'- GGACCTAAATTGCACGGTGC -3'

Sequencing Primer
(F):5'- AGAGCAAGTCAGGTGCCC -3'
(R):5'- CCTGTGGTGCATTATAAGCTAACCAG -3'
Posted On 2016-11-09