Incidental Mutation 'IGL02015:Ranbp10'
ID183703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ranbp10
Ensembl Gene ENSMUSG00000037415
Gene NameRAN binding protein 10
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02015
Quality Score
Status
Chromosome8
Chromosomal Location105768308-105827350 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105779990 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 233 (G233C)
Ref Sequence ENSEMBL: ENSMUSP00000040045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041400]
Predicted Effect probably damaging
Transcript: ENSMUST00000041400
AA Change: G233C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040045
Gene: ENSMUSG00000037415
AA Change: G233C

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,508,801 probably null Het
C1qtnf12 A G 4: 155,962,744 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
D430041D05Rik A G 2: 104,230,404 Y1382H probably damaging Het
Fut1 A T 7: 45,618,975 M118L probably damaging Het
Fzd5 A T 1: 64,736,342 C87S probably damaging Het
Gmcl1 A G 6: 86,707,457 V361A possibly damaging Het
Inpp4a T G 1: 37,389,712 F700V probably damaging Het
Klk1b21 A T 7: 44,104,358 Q22L probably benign Het
Lrp2 T A 2: 69,527,578 Q369L probably benign Het
Mtor C T 4: 148,540,113 Q2117* probably null Het
Naip2 A T 13: 100,161,607 S640R possibly damaging Het
Nt5e T C 9: 88,367,237 I408T probably damaging Het
Olfr509 T A 7: 108,646,013 N188Y probably damaging Het
Olfr572 G A 7: 102,928,192 R188H probably benign Het
Olfr924 T C 9: 38,848,794 S227P probably damaging Het
Plxna1 A G 6: 89,342,451 L590P probably damaging Het
Ppp1r35 T C 5: 137,780,031 probably benign Het
Prmt2 G A 10: 76,226,255 Q39* probably null Het
Ptprg A T 14: 12,237,782 N1413I possibly damaging Het
Rapgef2 A G 3: 79,092,064 probably benign Het
Rilpl2 T C 5: 124,469,813 T115A probably benign Het
Scaf4 T C 16: 90,258,846 S108G unknown Het
Scn10a C T 9: 119,664,951 V430M probably benign Het
Sf3b3 T C 8: 110,816,290 E845G possibly damaging Het
Skint2 C T 4: 112,624,128 R63* probably null Het
Slc35b4 A T 6: 34,170,548 V35D probably damaging Het
Slc6a3 A T 13: 73,544,714 Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 T689I possibly damaging Het
Tbx21 T C 11: 97,098,914 D484G probably benign Het
Tln2 C T 9: 67,361,439 probably benign Het
Traf3 A G 12: 111,252,740 N242S probably benign Het
Xiap T A X: 42,096,610 probably benign Het
Zcchc6 A G 13: 59,789,258 Y790H probably damaging Het
Other mutations in Ranbp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3606: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
R8103:Ranbp10 UTSW 8 105772547 missense probably benign 0.20
Posted On2014-05-07