Incidental Mutation 'R9524:Kif3b'
ID 719064
Institutional Source Beutler Lab
Gene Symbol Kif3b
Ensembl Gene ENSMUSG00000027475
Gene Name kinesin family member 3B
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9524 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 153133333-153175310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153159460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 420 (K420N)
Ref Sequence ENSEMBL: ENSMUSP00000028977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028977]
AlphaFold Q61771
Predicted Effect probably benign
Transcript: ENSMUST00000028977
AA Change: K420N

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028977
Gene: ENSMUSG00000027475
AA Change: K420N

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,180,594 (GRCm39) probably null Het
Adra2c G A 5: 35,438,143 (GRCm39) R305Q probably benign Het
Ahnak A G 19: 9,014,617 (GRCm39) D147G Het
Arhgap30 T A 1: 171,225,114 (GRCm39) S57T probably damaging Het
Aspm T C 1: 139,408,607 (GRCm39) I2498T probably damaging Het
Atr C T 9: 95,792,610 (GRCm39) A1644V possibly damaging Het
Cc2d1a G T 8: 84,870,744 (GRCm39) D101E probably benign Het
Cntfr A G 4: 41,661,995 (GRCm39) L249P probably damaging Het
D130043K22Rik T C 13: 25,071,876 (GRCm39) I940T possibly damaging Het
Dnah12 T G 14: 26,572,494 (GRCm39) C2862G probably null Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
Dnah9 A G 11: 65,976,309 (GRCm39) F1247L possibly damaging Het
Dpp10 T C 1: 123,264,611 (GRCm39) Q737R probably damaging Het
Dpp3 A G 19: 4,959,897 (GRCm39) V673A possibly damaging Het
Eif2a A T 3: 58,448,467 (GRCm39) K100I possibly damaging Het
Flnc C A 6: 29,461,109 (GRCm39) N2694K probably damaging Het
Fv1 T A 4: 147,953,768 (GRCm39) D111E possibly damaging Het
Gcnt3 G A 9: 69,941,569 (GRCm39) A333V probably damaging Het
Gpr151 T C 18: 42,712,710 (GRCm39) probably benign Het
Gxylt2 A G 6: 100,727,416 (GRCm39) T177A probably benign Het
Hnmt G A 2: 23,893,880 (GRCm39) L205F possibly damaging Het
Ikbkb A T 8: 23,172,740 (GRCm39) probably null Het
Ikzf2 T C 1: 69,578,337 (GRCm39) S391G probably benign Het
Kif26a C T 12: 112,140,286 (GRCm39) T505M probably damaging Het
Kmt2a A G 9: 44,730,294 (GRCm39) V3341A unknown Het
Lce1i T C 3: 92,685,081 (GRCm39) K32E unknown Het
Lmf1 A G 17: 25,881,514 (GRCm39) Y521C probably damaging Het
Mki67 C T 7: 135,305,913 (GRCm39) C655Y probably damaging Het
Morc3 T A 16: 93,667,401 (GRCm39) V593E probably benign Het
Muc16 A G 9: 18,497,314 (GRCm39) F6613L probably benign Het
Naip1 G A 13: 100,563,101 (GRCm39) T688I probably benign Het
Or2n1d T A 17: 38,646,540 (GRCm39) L164* probably null Het
Otop2 T A 11: 115,214,503 (GRCm39) C87S probably benign Het
Picalm T A 7: 89,810,484 (GRCm39) L97* probably null Het
Pik3c2g T A 6: 139,606,768 (GRCm39) W272R probably damaging Het
Plekhg4 G A 8: 106,101,398 (GRCm39) G20R unknown Het
Ppp1r35 G A 5: 137,777,304 (GRCm39) A17T unknown Het
Ppp2r5e A T 12: 75,509,167 (GRCm39) Y371N possibly damaging Het
Rexo1 T C 10: 80,386,872 (GRCm39) E62G probably damaging Het
Rtl1 T C 12: 109,556,973 (GRCm39) E1622G probably damaging Het
Ryr1 T C 7: 28,723,600 (GRCm39) E4181G probably damaging Het
Saxo1 C A 4: 86,397,132 (GRCm39) M135I probably benign Het
Shank2 C A 7: 143,964,183 (GRCm39) P597Q possibly damaging Het
Shld2 G A 14: 33,971,245 (GRCm39) Q547* probably null Het
Slc44a1 G A 4: 53,542,389 (GRCm39) V308I probably benign Het
Slc6a21 A G 7: 44,937,785 (GRCm39) H367R probably benign Het
Snx11 G T 11: 96,660,023 (GRCm39) T222K probably benign Het
Snx4 C T 16: 33,112,228 (GRCm39) Q388* probably null Het
Sulf1 T C 1: 12,918,622 (GRCm39) L831P probably damaging Het
Ugt2a3 A T 5: 87,485,018 (GRCm39) V2D Het
Unc5c T C 3: 141,494,683 (GRCm39) V406A possibly damaging Het
Unc5d A C 8: 29,365,639 (GRCm39) N115K probably damaging Het
Usp28 C A 9: 48,947,026 (GRCm39) T819N probably damaging Het
Usp42 T C 5: 143,702,704 (GRCm39) D639G possibly damaging Het
Vmn2r102 T A 17: 19,897,564 (GRCm39) M193K possibly damaging Het
Vmn2r12 A G 5: 109,239,823 (GRCm39) Y247H probably damaging Het
Vps13d T C 4: 144,822,814 (GRCm39) D2989G Het
Vsig2 A G 9: 37,455,335 (GRCm39) E295G probably benign Het
Wdfy3 T A 5: 102,055,333 (GRCm39) N1579I probably benign Het
Zfp521 T C 18: 13,980,173 (GRCm39) D80G possibly damaging Het
Zfp663 A C 2: 165,195,607 (GRCm39) L204R probably damaging Het
Other mutations in Kif3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Kif3b APN 2 153,159,051 (GRCm39) missense probably damaging 0.99
IGL00927:Kif3b APN 2 153,158,381 (GRCm39) missense possibly damaging 0.89
IGL02121:Kif3b APN 2 153,159,194 (GRCm39) missense probably damaging 0.99
IGL02302:Kif3b APN 2 153,158,868 (GRCm39) missense probably damaging 1.00
IGL02306:Kif3b APN 2 153,162,572 (GRCm39) missense probably damaging 1.00
IGL02348:Kif3b APN 2 153,158,813 (GRCm39) missense probably damaging 0.98
IGL03111:Kif3b APN 2 153,171,988 (GRCm39) missense probably benign 0.00
R1463:Kif3b UTSW 2 153,172,073 (GRCm39) makesense probably null
R1474:Kif3b UTSW 2 153,162,235 (GRCm39) missense probably damaging 1.00
R1485:Kif3b UTSW 2 153,164,851 (GRCm39) splice site probably null
R1538:Kif3b UTSW 2 153,159,382 (GRCm39) small deletion probably benign
R1834:Kif3b UTSW 2 153,159,405 (GRCm39) missense probably benign 0.22
R2371:Kif3b UTSW 2 153,164,743 (GRCm39) missense possibly damaging 0.66
R4051:Kif3b UTSW 2 153,165,477 (GRCm39) missense probably damaging 0.99
R4208:Kif3b UTSW 2 153,165,477 (GRCm39) missense probably damaging 0.99
R4504:Kif3b UTSW 2 153,165,564 (GRCm39) critical splice donor site probably null
R4619:Kif3b UTSW 2 153,158,594 (GRCm39) nonsense probably null
R4806:Kif3b UTSW 2 153,162,288 (GRCm39) missense probably damaging 1.00
R4911:Kif3b UTSW 2 153,159,212 (GRCm39) nonsense probably null
R7017:Kif3b UTSW 2 153,171,644 (GRCm39) missense possibly damaging 0.87
R7990:Kif3b UTSW 2 153,159,383 (GRCm39) missense probably benign 0.01
R8056:Kif3b UTSW 2 153,171,979 (GRCm39) missense possibly damaging 0.93
R8503:Kif3b UTSW 2 153,162,824 (GRCm39) critical splice donor site probably null
R8515:Kif3b UTSW 2 153,158,427 (GRCm39) missense probably damaging 1.00
R9041:Kif3b UTSW 2 153,159,468 (GRCm39) missense probably benign 0.01
X0026:Kif3b UTSW 2 153,158,241 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATTGCTCGGCTCAAGGC -3'
(R):5'- GCCTGGGCACTGGTTTTC -3'

Sequencing Primer
(F):5'- GGCCCAGCTGGAAAAACGTTC -3'
(R):5'- AAGGCAGTTGTCATCATGCC -3'
Posted On 2022-07-18