Incidental Mutation 'R7218:Rab44'
ID 561623
Institutional Source Beutler Lab
Gene Symbol Rab44
Ensembl Gene ENSMUSG00000064147
Gene Name RAB44, member RAS oncogene family
Synonyms 9830134C10Rik
MMRRC Submission 045290-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R7218 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 29333119-29367954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29358418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 202 (V202E)
Ref Sequence ENSEMBL: ENSMUSP00000085253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087942]
AlphaFold Q8CB87
Predicted Effect
SMART Domains Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: V202E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik T C 17: 46,043,977 (GRCm39) T94A unknown Het
1700025G04Rik T C 1: 151,791,259 (GRCm39) R101G probably damaging Het
6430548M08Rik T A 8: 120,872,322 (GRCm39) S83R probably damaging Het
Actn2 A G 13: 12,293,799 (GRCm39) S574P probably benign Het
Ank A T 15: 27,544,407 (GRCm39) Y56F probably damaging Het
Ano7 A G 1: 93,308,191 (GRCm39) D74G probably benign Het
Apaf1 T A 10: 90,872,864 (GRCm39) T738S probably damaging Het
Apcs A T 1: 172,722,231 (GRCm39) D38E possibly damaging Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Atp8a1 T A 5: 67,860,324 (GRCm39) D717V Het
Baiap2l1 A G 5: 144,212,687 (GRCm39) S443P probably benign Het
Bmal1 A T 7: 112,886,390 (GRCm39) H149L probably damaging Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
C1qtnf6 T C 15: 78,411,574 (GRCm39) E34G probably benign Het
Chil3 A C 3: 106,067,853 (GRCm39) probably null Het
Chmp4c T A 3: 10,432,198 (GRCm39) L36Q probably damaging Het
Chrna2 T A 14: 66,381,320 (GRCm39) probably null Het
Clec1a C T 6: 129,413,918 (GRCm39) C57Y probably damaging Het
Clec7a G T 6: 129,445,885 (GRCm39) T95K probably damaging Het
Csf1r C A 18: 61,263,396 (GRCm39) S926R probably damaging Het
Dnajc9 A G 14: 20,438,507 (GRCm39) I61T probably benign Het
Extl1 T G 4: 134,087,080 (GRCm39) S493R probably benign Het
Fance A G 17: 28,545,148 (GRCm39) D143G probably benign Het
Fcho2 C T 13: 98,890,121 (GRCm39) probably null Het
Filip1 T C 9: 79,725,356 (GRCm39) S1088G probably benign Het
Gnat1 A C 9: 107,553,184 (GRCm39) M319R possibly damaging Het
Gpr132 A T 12: 112,816,049 (GRCm39) V259E probably damaging Het
Gprc5d T A 6: 135,093,452 (GRCm39) M152L probably benign Het
Hif3a C T 7: 16,784,513 (GRCm39) R244H probably damaging Het
Hivep3 T C 4: 119,952,649 (GRCm39) S322P possibly damaging Het
Il33 T A 19: 29,936,325 (GRCm39) F229I probably damaging Het
Il4ra A G 7: 125,174,950 (GRCm39) D386G probably benign Het
Ino80 G T 2: 119,288,608 (GRCm39) H33N probably benign Het
Ip6k1 A G 9: 107,922,781 (GRCm39) D228G unknown Het
Mamdc2 C T 19: 23,424,974 (GRCm39) A40T probably benign Het
Meis3 T C 7: 15,918,626 (GRCm39) V357A probably benign Het
Mycbp2 T C 14: 103,371,282 (GRCm39) T4199A probably benign Het
Myo7b A T 18: 32,114,054 (GRCm39) M1099K probably benign Het
Mzb1 A T 18: 35,780,975 (GRCm39) H104Q probably benign Het
Nfatc2 A G 2: 168,413,184 (GRCm39) L167P probably benign Het
Numa1 A T 7: 101,650,117 (GRCm39) S1283C probably benign Het
Nup98 T G 7: 101,841,107 (GRCm39) probably null Het
Or13p4 T C 4: 118,547,215 (GRCm39) I145V probably benign Het
Or5p55 T C 7: 107,566,874 (GRCm39) L90P probably benign Het
Pkhd1l1 A G 15: 44,386,091 (GRCm39) T1243A possibly damaging Het
Pramel39-ps C A 5: 94,451,113 (GRCm39) V338F probably benign Het
Ptpro C T 6: 137,431,596 (GRCm39) R1152W probably damaging Het
Ptprt T C 2: 161,389,284 (GRCm39) T1270A probably damaging Het
Pwwp2b A C 7: 138,836,049 (GRCm39) T497P probably damaging Het
Rbfox1 C T 16: 7,111,947 (GRCm39) T191I probably damaging Het
Rufy4 A G 1: 74,172,174 (GRCm39) K299R probably damaging Het
Snip1 T A 4: 124,966,712 (GRCm39) S381T probably damaging Het
Spen T C 4: 141,199,961 (GRCm39) I2889V possibly damaging Het
Spopfm2 A T 3: 94,082,856 (GRCm39) H318Q possibly damaging Het
St3gal3 T A 4: 117,814,639 (GRCm39) D218V Het
Sun1 A G 5: 139,212,442 (GRCm39) T70A unknown Het
Tbc1d23 C T 16: 56,990,745 (GRCm39) V678M probably damaging Het
Tdh T A 14: 63,733,206 (GRCm39) Y195F probably damaging Het
Tescl C T 7: 24,033,286 (GRCm39) R13H possibly damaging Het
Tfap2c T A 2: 172,399,277 (GRCm39) M508K probably benign Het
Trappc4 A G 9: 44,316,587 (GRCm39) M136T probably benign Het
Tyk2 A G 9: 21,016,350 (GRCm39) C1207R probably damaging Het
Ugt2b36 T C 5: 87,229,398 (GRCm39) Y355C probably damaging Het
Vmn1r119 T A 7: 20,745,572 (GRCm39) H270L probably benign Het
Vmn2r20 G A 6: 123,363,074 (GRCm39) P570L probably damaging Het
Wnk1 A C 6: 119,979,234 (GRCm39) Y284* probably null Het
Yars2 C T 16: 16,121,182 (GRCm39) A112V probably damaging Het
Zer1 T C 2: 29,995,024 (GRCm39) N470S probably damaging Het
Zfp747l1 A T 7: 126,983,852 (GRCm39) S417T probably benign Het
Zfp879 A C 11: 50,723,508 (GRCm39) V516G 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
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
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'- TTCCTCAGCAGCATTGAAGCC -3'
(R):5'- CCTCAAAAGCAAGCTGATCTCTG -3'

Sequencing Primer
(F):5'- ACAGAACCCTGCGGCTTTG -3'
(R):5'- AGCTGATCTCTGAAAGCTGC -3'
Posted On 2019-06-26