Incidental Mutation 'R3606:Ranbp10'
Institutional Source Beutler Lab
Gene Symbol Ranbp10
Ensembl Gene ENSMUSG00000037415
Gene NameRAN binding protein 10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3606 (G1)
Quality Score225
Status Not validated
Chromosomal Location105768308-105827350 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105776035 bp
Amino Acid Change Serine to Proline at position 300 (S300P)
Ref Sequence ENSEMBL: ENSMUSP00000040045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041400]
Predicted Effect probably benign
Transcript: ENSMUST00000041400
AA Change: S300P

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040045
Gene: ENSMUSG00000037415
AA Change: S300P

low complexity region 44 59 N/A INTRINSIC
SPRY 128 249 5.47e-44 SMART
LisH 281 313 1.63e-2 SMART
CTLH 319 376 4.19e-14 SMART
low complexity region 437 464 N/A INTRINSIC
CRA 534 636 2.04e-22 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAN is a small GTPase involved in the assembly of microtubules to form mitotic spindles. The protein encoded by this gene is a cytoplasmic guanine nucleotide exchange factor (GEF) that binds beta-tubulin and has GEF activity toward RAN. The encoded protein plays a role in the formation of noncentrosomal microtubules. In addition, this protein may be involved in the regulation of D(1) receptor signaling by protein kinase C delta and protein kinase C gamma. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit slight defects in erythrocyte number and volume, decreased platelet aggregattion and increased bleeding time associated with impaired platelet dense granule release. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b T C 13: 14,120,241 V36A probably damaging Het
Cd101 A T 3: 101,020,597 I56N probably damaging Het
Cs A T 10: 128,360,023 H367L probably benign Het
Ddb1 A G 19: 10,628,493 E1095G probably damaging Het
Fgfrl1 C A 5: 108,705,423 T213K probably damaging Het
Kprp C A 3: 92,824,281 Q487H unknown Het
Myom2 T C 8: 15,069,775 V177A probably damaging Het
Nelfcd A G 2: 174,426,544 Y525C probably benign Het
Olfr152 C A 2: 87,783,207 F222L probably benign Het
Olfr331 C T 11: 58,502,131 V148M possibly damaging Het
Pcdhgc5 A G 18: 37,820,507 D278G probably benign Het
Peg3 T C 7: 6,708,509 E1238G probably damaging Het
Plekha7 T C 7: 116,164,242 D313G possibly damaging Het
Ppp1r9a A G 6: 5,113,674 N726S possibly damaging Het
Psmd3 C T 11: 98,690,954 R302W probably damaging Het
Ptbp2 A G 3: 119,747,632 L223P probably damaging Het
Rundc3b A T 5: 8,512,386 D327E probably damaging Het
Tsr1 T C 11: 74,905,233 S562P probably benign Het
Ttc30a1 T C 2: 75,981,277 D154G probably benign Het
Ube3c A G 5: 29,598,938 T180A possibly damaging Het
Other mutations in Ranbp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Ranbp10 APN 8 105779990 missense probably damaging 1.00
IGL02119:Ranbp10 APN 8 105827003 missense probably damaging 1.00
IGL02120:Ranbp10 APN 8 105805582 missense probably damaging 1.00
R1532:Ranbp10 UTSW 8 105774331 missense probably benign 0.01
R1743:Ranbp10 UTSW 8 105779978 missense probably damaging 1.00
R1970:Ranbp10 UTSW 8 105786708 missense probably damaging 1.00
R3084:Ranbp10 UTSW 8 105774631 missense probably damaging 1.00
R3605:Ranbp10 UTSW 8 105776035 missense probably benign 0.40
R3607:Ranbp10 UTSW 8 105776035 missense probably benign 0.40
R4815:Ranbp10 UTSW 8 105826125 nonsense probably null
R5996:Ranbp10 UTSW 8 105773040 missense probably benign 0.04
R6178:Ranbp10 UTSW 8 105771664 missense possibly damaging 0.82
R6528:Ranbp10 UTSW 8 105779956 missense probably damaging 1.00
R6718:Ranbp10 UTSW 8 105774628 missense possibly damaging 0.62
R7082:Ranbp10 UTSW 8 105773946 missense probably damaging 0.99
R7732:Ranbp10 UTSW 8 105773091 missense probably benign 0.01
R8073:Ranbp10 UTSW 8 105786629 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-02-19