Incidental Mutation 'IGL00162:Kif3b'
ID1830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif3b
Ensembl Gene ENSMUSG00000027475
Gene Namekinesin family member 3B
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00162
Quality Score
Status
Chromosome2
Chromosomal Location153291413-153333390 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153317131 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 284 (D284G)
Ref Sequence ENSEMBL: ENSMUSP00000028977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028977]
Predicted Effect probably damaging
Transcript: ENSMUST00000028977
AA Change: D284G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028977
Gene: ENSMUSG00000027475
AA Change: D284G

DomainStartEndE-ValueType
KISc 7 348 6.36e-186 SMART
low complexity region 370 412 N/A INTRINSIC
low complexity region 437 458 N/A INTRINSIC
Blast:KISc 459 535 3e-10 BLAST
low complexity region 537 548 N/A INTRINSIC
Blast:KISc 549 626 4e-27 BLAST
low complexity region 685 697 N/A INTRINSIC
low complexity region 714 735 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygoous for a targeted null mutation are growth retarded and display neural tube defects, incomplete embryo turning, randomized left-right assymetry, pericardial edema, and die during the midgestational period. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C330021F23Rik A G 8: 3,583,904 T2A probably benign Het
Cc2d1b T G 4: 108,627,378 L470R probably damaging Het
Cd96 A T 16: 46,071,799 N275K possibly damaging Het
Col22a1 A G 15: 71,860,958 probably null Het
Cyb561 T C 11: 105,935,836 H197R probably damaging Het
Dlgap1 T C 17: 70,516,085 S22P probably benign Het
Dnajc6 A G 4: 101,508,089 probably benign Het
Fgf6 A T 6: 127,024,085 K185N possibly damaging Het
Fshr T C 17: 88,986,191 N353S probably damaging Het
Gabbr1 T A 17: 37,048,443 Y103* probably null Het
Gm7247 G A 14: 51,523,505 C177Y possibly damaging Het
Hikeshi A G 7: 89,935,781 F72L probably damaging Het
Ikzf4 T C 10: 128,634,547 E368G probably benign Het
Kdm3b A G 18: 34,809,409 E851G probably benign Het
Kyat3 G A 3: 142,734,474 A320T probably benign Het
Mok C T 12: 110,808,197 probably benign Het
Mrgpra3 A G 7: 47,589,519 F220L probably benign Het
Nr4a1 T C 15: 101,270,899 V272A probably damaging Het
Olfr1124 A G 2: 87,435,063 H192R probably benign Het
Olfr703 A G 7: 106,845,367 Y252C possibly damaging Het
Pikfyve T A 1: 65,260,121 probably null Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Ptpn12 T C 5: 21,029,850 E45G probably damaging Het
Ralgps1 A T 2: 33,137,682 *516R probably null Het
Senp6 A G 9: 80,116,610 D385G probably damaging Het
Siglech T C 7: 55,772,591 probably benign Het
Slit1 A G 19: 41,650,835 L212P probably damaging Het
Smchd1 T A 17: 71,465,673 probably benign Het
Snapc4 A T 2: 26,369,312 C609S probably benign Het
Strn3 T C 12: 51,661,196 T139A possibly damaging Het
Tcaf3 T C 6: 42,593,385 T478A probably benign Het
Tlr3 A G 8: 45,400,690 S198P probably damaging Het
Ttn C T 2: 76,890,479 probably benign Het
Vil1 G A 1: 74,423,875 E406K probably damaging Het
Zfp462 A G 4: 55,011,483 probably null Het
Zfyve9 A G 4: 108,642,107 V1338A possibly damaging Het
Other mutations in Kif3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Kif3b APN 2 153316461 missense possibly damaging 0.89
IGL02121:Kif3b APN 2 153317274 missense probably damaging 0.99
IGL02302:Kif3b APN 2 153316948 missense probably damaging 1.00
IGL02306:Kif3b APN 2 153320652 missense probably damaging 1.00
IGL02348:Kif3b APN 2 153316893 missense probably damaging 0.98
IGL03111:Kif3b APN 2 153330068 missense probably benign 0.00
R1463:Kif3b UTSW 2 153330153 makesense probably null
R1474:Kif3b UTSW 2 153320315 missense probably damaging 1.00
R1485:Kif3b UTSW 2 153322931 splice site probably null
R1538:Kif3b UTSW 2 153317462 small deletion probably benign
R1834:Kif3b UTSW 2 153317485 missense probably benign 0.22
R2371:Kif3b UTSW 2 153322823 missense possibly damaging 0.66
R4051:Kif3b UTSW 2 153323557 missense probably damaging 0.99
R4208:Kif3b UTSW 2 153323557 missense probably damaging 0.99
R4504:Kif3b UTSW 2 153323644 critical splice donor site probably null
R4619:Kif3b UTSW 2 153316674 nonsense probably null
R4806:Kif3b UTSW 2 153320368 missense probably damaging 1.00
R4911:Kif3b UTSW 2 153317292 nonsense probably null
R7017:Kif3b UTSW 2 153329724 missense possibly damaging 0.87
X0026:Kif3b UTSW 2 153316321 missense probably damaging 1.00
Posted On2011-07-12