Incidental Mutation 'IGL02120:Ranbp10'
ID 280557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ranbp10
Ensembl Gene ENSMUSG00000037415
Gene Name RAN binding protein 10
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02120
Quality Score
Status
Chromosome 8
Chromosomal Location 105768308-105827350 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105805582 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 145 (Y145C)
Ref Sequence ENSEMBL: ENSMUSP00000040045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041400]
AlphaFold Q6VN19
Predicted Effect probably damaging
Transcript: ENSMUST00000041400
AA Change: Y145C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040045
Gene: ENSMUSG00000037415
AA Change: Y145C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212856
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik C T 4: 144,418,411 R195H probably benign Het
Abcb11 T C 2: 69,257,310 Y1037C probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd33b T C 15: 31,367,056 T113A possibly damaging Het
Aox3 T A 1: 58,127,650 N177K probably benign Het
Arhgap29 T A 3: 122,004,257 V532E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Caskin1 G T 17: 24,500,942 G401V probably damaging Het
Cemip A T 7: 83,951,563 M950K probably damaging Het
Chrd T C 16: 20,734,541 V211A probably damaging Het
Ckap2l T C 2: 129,285,622 N212S possibly damaging Het
Clip1 T C 5: 123,647,883 D246G probably damaging Het
Dlst T C 12: 85,118,568 S82P probably benign Het
Dmxl1 T A 18: 49,894,178 L2118M possibly damaging Het
Dnah7a T C 1: 53,495,717 K2795E possibly damaging Het
Enpp5 T A 17: 44,080,845 M55K probably benign Het
Epdr1 A T 13: 19,594,471 S50T probably damaging Het
Gm6169 G T 13: 97,098,777 probably benign Het
Gm7808 T A 9: 19,928,017 probably benign Het
Huwe1 T A X: 151,907,390 F2485I possibly damaging Het
Kcnb2 C T 1: 15,709,861 T319M probably damaging Het
Lama1 G A 17: 67,716,789 V60M probably damaging Het
Lingo3 A T 10: 80,835,859 L79Q probably damaging Het
Magi2 T A 5: 20,228,453 probably null Het
Mob2 C A 7: 142,010,298 V33L possibly damaging Het
Mus81 G A 19: 5,485,633 probably benign Het
Nup210l G A 3: 90,136,862 G490D probably damaging Het
Olfr702 A C 7: 106,823,698 V276G possibly damaging Het
Pbp2 A G 6: 135,309,818 V177A probably damaging Het
Pomt2 T C 12: 87,111,552 D656G probably benign Het
Ppp2r1b A G 9: 50,861,769 probably benign Het
Ptprq T C 10: 107,667,472 E775G probably damaging Het
Rad54l T C 4: 116,098,984 I549V probably benign Het
Runx1t1 A T 4: 13,846,884 T223S probably benign Het
Stxbp6 G T 12: 44,902,048 probably benign Het
Syne2 A G 12: 75,946,706 D2085G probably damaging Het
Szt2 C T 4: 118,388,564 R1064Q probably benign Het
Taar3 A G 10: 23,950,167 T204A probably benign Het
Tdpoz1 A G 3: 93,670,443 S345P probably damaging Het
Tgm4 T A 9: 123,046,529 I149N probably damaging Het
Tubal3 T A 13: 3,930,675 I129N probably damaging Het
Vegfc T C 8: 54,181,401 F372L possibly damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vwf C A 6: 125,616,034 L786M probably benign 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
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
R8796:Ranbp10 UTSW 8 105773033 splice site probably benign
R9152:Ranbp10 UTSW 8 105772508 missense probably benign 0.12
R9789:Ranbp10 UTSW 8 105786674 missense probably damaging 1.00
Posted On 2015-04-16