Incidental Mutation 'IGL02057:Rab37'
ID185270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rab37
Ensembl Gene ENSMUSG00000020732
Gene NameRAB37, member RAS oncogene family
SynonymsB230331O03Rik, B230354I04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL02057
Quality Score
Status
Chromosome11
Chromosomal Location115091431-115162236 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115160717 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 217 (S217P)
Ref Sequence ENSEMBL: ENSMUSP00000021076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021076] [ENSMUST00000021077] [ENSMUST00000067754]
Predicted Effect probably benign
Transcript: ENSMUST00000021076
AA Change: S217P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021076
Gene: ENSMUSG00000020732
AA Change: S217P

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
RAB 31 194 9.38e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021077
SMART Domains Protein: ENSMUSP00000021077
Gene: ENSMUSG00000020733

DomainStartEndE-ValueType
PDZ 22 94 2.9e-20 SMART
PDZ 157 229 6.03e-18 SMART
Pfam:EBP50_C 230 355 1.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067754
AA Change: S210P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065016
Gene: ENSMUSG00000020732
AA Change: S210P

DomainStartEndE-ValueType
RAB 23 187 1.27e-89 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156383
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rab proteins are low molecular mass GTPases that are critical regulators of vesicle trafficking. For additional background information on Rab proteins, see MIM 179508.[supplied by OMIM, Apr 2006]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,416,772 N369S probably damaging Het
Atp13a3 C T 16: 30,332,364 A1043T probably benign Het
AY358078 G A 14: 51,820,305 V287I unknown Het
Cemip T C 7: 83,987,453 E324G probably damaging Het
Ckap5 T A 2: 91,600,707 D1487E possibly damaging Het
Dscam G A 16: 96,716,073 Q879* probably null Het
Eci2 A G 13: 34,990,776 L50P probably damaging Het
Erp44 A T 4: 48,236,964 H65Q probably benign Het
Fahd1 A T 17: 24,849,596 I169N probably damaging Het
Galm T C 17: 80,181,567 I214T probably benign Het
Gipc3 T A 10: 81,343,134 N42Y probably damaging Het
Gm10696 T A 3: 94,176,355 S50C probably damaging Het
H2-Eb2 A T 17: 34,335,767 probably benign Het
Itgb3 A T 11: 104,632,348 I113F probably damaging Het
Lef1 T G 3: 131,200,402 Y342* probably null Het
Lilrb4a G A 10: 51,492,007 D168N possibly damaging Het
Olfr1023 T A 2: 85,886,931 F44I probably benign Het
Olfr623 T A 7: 103,660,653 Y199F probably damaging Het
Orc1 T G 4: 108,588,729 S15A possibly damaging Het
Pdk2 C T 11: 95,028,498 G317D probably benign Het
Rere C T 4: 150,614,832 probably benign Het
Scn11a C T 9: 119,765,470 G1286S probably damaging Het
Sirt1 A G 10: 63,325,203 S357P probably damaging Het
Smpdl3b T A 4: 132,733,713 E351V probably benign Het
Sox6 C A 7: 115,550,075 G355W probably damaging Het
Srpk2 G T 5: 23,518,707 A502E probably damaging Het
Trim67 G A 8: 124,823,130 V500I probably benign Het
Ube2v2 A G 16: 15,577,058 V83A probably benign Het
Usp43 A T 11: 67,856,287 S865T probably benign Het
Vdac1 G A 11: 52,376,544 probably null Het
Vmn2r69 T A 7: 85,411,782 H198L possibly damaging Het
Vmn2r93 T C 17: 18,325,770 C635R probably damaging Het
Other mutations in Rab37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03278:Rab37 APN 11 115159691 missense possibly damaging 0.59
R0051:Rab37 UTSW 11 115158665 missense probably damaging 1.00
R0360:Rab37 UTSW 11 115156964 missense probably damaging 1.00
R0364:Rab37 UTSW 11 115156964 missense probably damaging 1.00
R0592:Rab37 UTSW 11 115160523 splice site probably benign
R0639:Rab37 UTSW 11 115158702 missense probably benign 0.04
R1958:Rab37 UTSW 11 115160351 missense probably damaging 1.00
R4301:Rab37 UTSW 11 115158564 missense possibly damaging 0.53
R5423:Rab37 UTSW 11 115157027 missense possibly damaging 0.63
R6196:Rab37 UTSW 11 115160306 missense probably benign 0.30
R6488:Rab37 UTSW 11 115157963 missense probably benign 0.01
R7539:Rab37 UTSW 11 115160661 missense probably benign 0.00
Posted On2014-05-07