Incidental Mutation 'IGL02314:Rab44'
ID287965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab44
Ensembl Gene ENSMUSG00000064147
Gene NameRAB44, member RAS oncogene family
Synonyms9830134C10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL02314
Quality Score
Status
Chromosome17
Chromosomal Location29135056-29148980 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 29139353 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 172 (Q172K)
Ref Sequence ENSEMBL: ENSMUSP00000085253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087942]
Predicted Effect probably benign
Transcript: ENSMUST00000087942
AA Change: Q172K

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000085253
Gene: ENSMUSG00000064147
AA Change: Q172K

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 T A 4: 47,472,143 K94* probably null Het
Axl A G 7: 25,786,920 F120L possibly damaging Het
Baz2b A G 2: 59,962,227 V519A probably benign Het
Cdk2 A T 10: 128,703,726 I99N probably damaging Het
Ces1b C A 8: 93,064,896 W358C possibly damaging Het
Clca3b A G 3: 144,828,142 probably benign Het
Col6a4 T G 9: 105,997,156 T2211P probably damaging Het
Cyp4f14 C T 17: 32,906,291 E438K probably benign Het
Dpy19l4 T A 4: 11,267,720 T407S possibly damaging Het
Dtx3 G A 10: 127,190,959 probably benign Het
Fat3 A T 9: 15,969,838 L3246H possibly damaging Het
Fat4 A T 3: 38,887,630 D224V probably damaging Het
Fndc9 A T 11: 46,238,295 I214F probably benign Het
Foxred1 A T 9: 35,205,968 I22N probably damaging Het
Gkn1 T C 6: 87,349,121 D29G probably benign Het
Gm13078 T C 4: 143,728,442 S437P probably benign Het
Gm2035 T A 12: 87,919,607 Y84F probably benign Het
Gng11 T A 6: 4,004,317 M1K probably null Het
Hdac7 T C 15: 97,809,004 D237G probably damaging Het
Hgf A G 5: 16,572,602 Y199C probably damaging Het
Hgfac A T 5: 35,041,597 M1L probably benign Het
Hsd17b6 T C 10: 127,997,908 T35A probably damaging Het
Htr3a G A 9: 48,904,627 P170L probably damaging Het
Ighv12-3 A G 12: 114,366,801 S25P probably damaging Het
Jph2 A T 2: 163,397,353 N58K probably damaging Het
Lama5 A G 2: 180,194,482 probably benign Het
Lpin3 T A 2: 160,898,718 Y394* probably null Het
Macf1 G T 4: 123,444,837 T2248K probably damaging Het
Map3k2 A G 18: 32,218,500 probably benign Het
Map4k5 G A 12: 69,818,439 P524S probably benign Het
Mcf2l C T 8: 13,001,851 S359L probably damaging Het
Mdh1b C T 1: 63,711,114 probably null Het
Mfhas1 G A 8: 35,588,773 R134H probably damaging Het
Mogs A G 6: 83,118,055 T618A probably benign Het
Mybpc2 T A 7: 44,522,388 Q39H possibly damaging Het
Myoc C T 1: 162,639,348 R29W probably damaging Het
Nae1 A G 8: 104,526,306 M162T probably damaging Het
Nfatc3 A G 8: 106,078,900 I126V probably benign Het
Nxnl2 C A 13: 51,171,529 F69L probably benign Het
Oca2 T A 7: 56,357,151 I662N probably benign Het
Odf3b T G 15: 89,378,169 K82N probably damaging Het
Olfr1151 A G 2: 87,858,056 N294D probably damaging Het
Olfr1356 A T 10: 78,847,265 S217T probably damaging Het
Olfr549 A T 7: 102,555,111 I276F probably damaging Het
Olfr872 A T 9: 20,260,478 I213L probably benign Het
Pcdhb14 G A 18: 37,450,195 E785K probably benign Het
Plb1 A C 5: 32,281,148 Y209S possibly damaging Het
Rnf214 A T 9: 45,899,807 V186E probably benign Het
Rps6ka1 C A 4: 133,850,754 G522W probably damaging Het
Samhd1 G T 2: 157,135,028 T21K probably damaging Het
Scly A G 1: 91,319,041 Y358C probably benign Het
Sfxn2 A G 19: 46,582,587 N29D possibly damaging Het
Shank2 A G 7: 144,411,271 D1451G probably benign Het
Slc44a5 G A 3: 154,256,519 S363N probably damaging Het
Smg1 A G 7: 118,154,709 probably benign Het
Tas1r3 A T 4: 155,860,662 C701S probably damaging Het
Tmem87a A G 2: 120,404,021 S14P possibly damaging Het
Trmt6 G A 2: 132,805,458 A486V probably benign Het
Ttn G A 2: 76,896,747 R1602* probably null Het
Ush2a A G 1: 188,633,629 M2227V probably benign Het
Vmn2r96 A T 17: 18,583,959 Q490H probably benign Het
Wdr19 G T 5: 65,257,120 A1279S probably benign Het
Zbtb7c G A 18: 76,145,866 R465H probably damaging Het
Zfp473 T C 7: 44,733,929 S326G probably benign Het
Other mutations in Rab44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Rab44 APN 17 29139737 missense probably benign
IGL01545:Rab44 APN 17 29147377 missense unknown
IGL02402:Rab44 APN 17 29140516 missense probably benign 0.01
IGL02492:Rab44 APN 17 29146049 splice site probably benign
R0018:Rab44 UTSW 17 29139380 missense probably benign 0.03
R0135:Rab44 UTSW 17 29138132 missense probably benign 0.01
R0193:Rab44 UTSW 17 29140307 missense probably benign
R0398:Rab44 UTSW 17 29145370 splice site probably benign
R0403:Rab44 UTSW 17 29145261 missense probably damaging 1.00
R0608:Rab44 UTSW 17 29147343 splice site probably null
R0631:Rab44 UTSW 17 29139144 missense possibly damaging 0.91
R0762:Rab44 UTSW 17 29145270 missense unknown
R1128:Rab44 UTSW 17 29140461 missense possibly damaging 0.90
R1681:Rab44 UTSW 17 29140124 missense possibly damaging 0.47
R1706:Rab44 UTSW 17 29138106 missense probably damaging 1.00
R2679:Rab44 UTSW 17 29144477 splice site probably null
R3500:Rab44 UTSW 17 29138067 missense probably benign 0.09
R3709:Rab44 UTSW 17 29139869 missense probably benign 0.08
R4497:Rab44 UTSW 17 29139897 missense probably benign 0.04
R4655:Rab44 UTSW 17 29139194 missense probably benign
R4833:Rab44 UTSW 17 29136337 missense probably damaging 1.00
R4850:Rab44 UTSW 17 29140089 missense possibly damaging 0.95
R4926:Rab44 UTSW 17 29139555 missense probably benign 0.01
R5694:Rab44 UTSW 17 29140500 missense probably damaging 1.00
R5694:Rab44 UTSW 17 29145966 missense unknown
R5835:Rab44 UTSW 17 29148238 missense probably benign 0.13
R6146:Rab44 UTSW 17 29135417 start gained probably benign
R6629:Rab44 UTSW 17 29135780 start gained probably benign
R6814:Rab44 UTSW 17 29139810 missense probably benign 0.18
R6865:Rab44 UTSW 17 29139227 missense probably benign
R6872:Rab44 UTSW 17 29139810 missense probably benign 0.18
R7032:Rab44 UTSW 17 29140464 missense unknown
R7058:Rab44 UTSW 17 29138176 splice site probably null
R7207:Rab44 UTSW 17 29138039 nonsense probably null
R7218:Rab44 UTSW 17 29139444 missense
R7418:Rab44 UTSW 17 29140496 missense unknown
R7651:Rab44 UTSW 17 29148205 missense unknown
R8336:Rab44 UTSW 17 29148275 makesense probably null
R8406:Rab44 UTSW 17 29140320 missense unknown
Posted On2015-04-16