Incidental Mutation 'IGL02119:Ranbp10'
ID 280527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ranbp10
Ensembl Gene ENSMUSG00000037415
Gene Name RAN binding protein 10
Synonyms 4432417N03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02119
Quality Score
Status
Chromosome 8
Chromosomal Location 106494940-106553982 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106553635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 89 (D89G)
Ref Sequence ENSEMBL: ENSMUSP00000040045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034365] [ENSMUST00000041400] [ENSMUST00000212566]
AlphaFold Q6VN19
Predicted Effect probably benign
Transcript: ENSMUST00000034365
SMART Domains Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893

DomainStartEndE-ValueType
Pfam:TSNAXIP1_N 98 209 3.5e-33 PFAM
coiled coil region 304 342 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000041400
AA Change: D89G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040045
Gene: ENSMUSG00000037415
AA Change: D89G

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: ENSMUST00000211949
Predicted Effect probably benign
Transcript: ENSMUST00000212566
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,158,344 (GRCm39) probably null Het
Acsbg2 T C 17: 57,175,459 (GRCm39) probably benign Het
Ap3b1 T C 13: 94,598,911 (GRCm39) V495A probably benign Het
Astn1 T C 1: 158,338,724 (GRCm39) probably benign Het
Bora A G 14: 99,290,974 (GRCm39) D94G probably damaging Het
Bpifb9b G T 2: 154,155,544 (GRCm39) V348L possibly damaging Het
Cd160 A T 3: 96,716,139 (GRCm39) I17N possibly damaging Het
Cyp2d11 A C 15: 82,274,265 (GRCm39) I372S probably damaging Het
Dennd2c T A 3: 103,044,559 (GRCm39) V380D probably damaging Het
Fat4 C T 3: 39,037,088 (GRCm39) A3580V probably benign Het
Filip1 A G 9: 79,725,548 (GRCm39) S1024P probably benign Het
Flnc G A 6: 29,447,511 (GRCm39) E1105K probably damaging Het
Gbp4 T A 5: 105,268,908 (GRCm39) E415V probably benign Het
Gdap1l1 T A 2: 163,295,588 (GRCm39) F224Y probably damaging Het
Gm11146 A T 16: 77,385,498 (GRCm39) probably null Het
Gsn G T 2: 35,192,507 (GRCm39) R485L probably damaging Het
Havcr1 A G 11: 46,666,320 (GRCm39) Y261C probably damaging Het
Maneal A T 4: 124,752,960 (GRCm39) I229N probably benign Het
Med24 A T 11: 98,619,661 (GRCm39) M27K probably benign Het
Nipsnap2 T A 5: 129,825,056 (GRCm39) probably benign Het
Noa1 T A 5: 77,455,426 (GRCm39) Q430L probably benign Het
Or1l4 C A 2: 37,091,281 (GRCm39) S9R possibly damaging Het
Or5d47 T A 2: 87,804,754 (GRCm39) N85I probably benign Het
Or7g12 T C 9: 18,899,908 (GRCm39) V208A probably benign Het
Or8h9 T C 2: 86,789,527 (GRCm39) I92V probably benign Het
Pde3a T A 6: 141,405,529 (GRCm39) S460R probably damaging Het
Pdzd8 T C 19: 59,288,922 (GRCm39) Q826R possibly damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pikfyve T A 1: 65,311,730 (GRCm39) I1989N probably damaging Het
Poldip2 T A 11: 78,408,734 (GRCm39) F200I probably damaging Het
Prodh2 T C 7: 30,205,929 (GRCm39) V208A probably damaging Het
Rbm33 T A 5: 28,544,015 (GRCm39) S90R probably damaging Het
Slc44a4 A C 17: 35,147,637 (GRCm39) D441A probably damaging Het
Slc4a10 A T 2: 62,059,014 (GRCm39) I174F probably damaging Het
Smim17 T C 7: 6,430,160 (GRCm39) probably benign Het
Tln1 T C 4: 43,546,760 (GRCm39) E872G probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Top2b T C 14: 16,406,733 (GRCm38) L625S probably damaging Het
Vmn2r59 A G 7: 41,695,593 (GRCm39) V273A probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Whrn T G 4: 63,353,724 (GRCm39) K348Q probably damaging Het
Zc3h14 T C 12: 98,730,154 (GRCm39) V399A probably benign Het
Other mutations in Ranbp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Ranbp10 APN 8 106,506,622 (GRCm39) missense probably damaging 1.00
IGL02120:Ranbp10 APN 8 106,532,214 (GRCm39) missense probably damaging 1.00
R1532:Ranbp10 UTSW 8 106,500,963 (GRCm39) missense probably benign 0.01
R1743:Ranbp10 UTSW 8 106,506,610 (GRCm39) missense probably damaging 1.00
R1970:Ranbp10 UTSW 8 106,513,340 (GRCm39) missense probably damaging 1.00
R3084:Ranbp10 UTSW 8 106,501,263 (GRCm39) missense probably damaging 1.00
R3605:Ranbp10 UTSW 8 106,502,667 (GRCm39) missense probably benign 0.40
R3606:Ranbp10 UTSW 8 106,502,667 (GRCm39) missense probably benign 0.40
R3607:Ranbp10 UTSW 8 106,502,667 (GRCm39) missense probably benign 0.40
R4815:Ranbp10 UTSW 8 106,552,757 (GRCm39) nonsense probably null
R5996:Ranbp10 UTSW 8 106,499,672 (GRCm39) missense probably benign 0.04
R6178:Ranbp10 UTSW 8 106,498,296 (GRCm39) missense possibly damaging 0.82
R6528:Ranbp10 UTSW 8 106,506,588 (GRCm39) missense probably damaging 1.00
R6718:Ranbp10 UTSW 8 106,501,260 (GRCm39) missense possibly damaging 0.62
R7082:Ranbp10 UTSW 8 106,500,578 (GRCm39) missense probably damaging 0.99
R7732:Ranbp10 UTSW 8 106,499,723 (GRCm39) missense probably benign 0.01
R8073:Ranbp10 UTSW 8 106,513,261 (GRCm39) missense probably damaging 1.00
R8103:Ranbp10 UTSW 8 106,499,179 (GRCm39) missense probably benign 0.20
R8796:Ranbp10 UTSW 8 106,499,665 (GRCm39) splice site probably benign
R9152:Ranbp10 UTSW 8 106,499,140 (GRCm39) missense probably benign 0.12
R9789:Ranbp10 UTSW 8 106,513,306 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16