Incidental Mutation 'R4878:Kif13b'
ID 375084
Institutional Source Beutler Lab
Gene Symbol Kif13b
Ensembl Gene ENSMUSG00000060012
Gene Name kinesin family member 13B
Synonyms C130021D12Rik, 5330429L19Rik, N-3 kinesin, GAKIN
MMRRC Submission 042487-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4878 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 64889633-65047067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65043603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1801 (L1801P)
Ref Sequence ENSEMBL: ENSMUSP00000153168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100473] [ENSMUST00000224503]
AlphaFold A0A286YCV9
Predicted Effect probably benign
Transcript: ENSMUST00000100473
AA Change: L1797P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: L1797P

DomainStartEndE-ValueType
KISc 3 361 1.4e-182 SMART
FHA 470 520 6.86e-1 SMART
low complexity region 546 560 N/A INTRINSIC
coiled coil region 617 646 N/A INTRINSIC
coiled coil region 669 701 N/A INTRINSIC
Pfam:KIF1B 756 802 4.1e-20 PFAM
Pfam:DUF3694 1003 1279 1.4e-37 PFAM
low complexity region 1514 1526 N/A INTRINSIC
low complexity region 1532 1548 N/A INTRINSIC
low complexity region 1574 1589 N/A INTRINSIC
low complexity region 1617 1630 N/A INTRINSIC
CAP_GLY 1719 1784 1.54e-29 SMART
low complexity region 1814 1826 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224503
AA Change: L1801P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224677
Meta Mutation Damage Score 0.0700 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 96% (70/73)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit increased circulating cholesterol and factor VIII levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 C A 4: 144,340,415 (GRCm39) H47N possibly damaging Het
Adgrg3 A T 8: 95,761,714 (GRCm39) N159I possibly damaging Het
Agrn A T 4: 156,255,302 (GRCm39) L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atg2a A T 19: 6,300,274 (GRCm39) E694V probably damaging Het
Ccndbp1 T A 2: 120,845,172 (GRCm39) L363* probably null Het
Cdh16 A T 8: 105,344,696 (GRCm39) D478E probably damaging Het
Cep295 A T 9: 15,246,252 (GRCm39) W735R probably benign Het
Cnnm2 C T 19: 46,847,522 (GRCm39) P682S probably benign Het
Daam2 C A 17: 49,767,738 (GRCm39) R951L probably damaging Het
Dmxl1 T A 18: 49,984,543 (GRCm39) F180I probably damaging Het
Dnajc6 T C 4: 101,456,231 (GRCm39) probably benign Het
Efemp2 A T 19: 5,530,789 (GRCm39) probably benign Het
Emilin1 A G 5: 31,074,410 (GRCm39) D217G probably benign Het
Enpep A T 3: 129,070,420 (GRCm39) M829K probably benign Het
Epb41l4a A G 18: 33,931,625 (GRCm39) V623A probably damaging Het
Erlin2 T A 8: 27,517,194 (GRCm39) probably null Het
Fbln2 T C 6: 91,233,977 (GRCm39) probably null Het
Gga3 A T 11: 115,482,147 (GRCm39) I157N probably damaging Het
Gtpbp6 C T 5: 110,255,177 (GRCm39) probably benign Het
Hps4 T C 5: 112,523,234 (GRCm39) V584A probably benign Het
Ighv1-50 T C 12: 115,083,567 (GRCm39) Y51C probably benign Het
Kif16b T C 2: 142,689,923 (GRCm39) I330V probably damaging Het
Klb A T 5: 65,505,833 (GRCm39) R27W probably damaging Het
Lrif1 A T 3: 106,642,956 (GRCm39) K169M probably damaging Het
Lrrc37 A G 11: 103,508,717 (GRCm39) probably benign Het
Met A G 6: 17,549,058 (GRCm39) D970G probably damaging Het
Mical3 A T 6: 120,946,348 (GRCm39) M1051K possibly damaging Het
Mios A G 6: 8,215,094 (GRCm39) N97D probably benign Het
Msh5 G A 17: 35,257,432 (GRCm39) R321C probably damaging Het
Mybpc1 T C 10: 88,387,292 (GRCm39) Q473R possibly damaging Het
Ncoa1 C T 12: 4,325,004 (GRCm39) G970D probably damaging Het
Neb T C 2: 52,109,406 (GRCm39) Y232C probably damaging Het
Nefh A G 11: 4,891,333 (GRCm39) S429P probably damaging Het
Notch3 C T 17: 32,366,059 (GRCm39) G1014D probably damaging Het
Nup107 A T 10: 117,587,323 (GRCm39) C859S probably benign Het
Or1d2 T C 11: 74,255,674 (GRCm39) Y60H probably damaging Het
Or2n1d T G 17: 38,646,518 (GRCm39) F157V probably benign Het
Or5m3b A G 2: 85,871,799 (GRCm39) I47V probably benign Het
Otud7b T A 3: 96,043,821 (GRCm39) probably benign Het
Pde1a A T 2: 79,708,483 (GRCm39) S312T probably benign Het
Piwil1 G T 5: 128,818,045 (GRCm39) R94L probably damaging Het
Pnma2 G A 14: 67,154,503 (GRCm39) W309* probably null Het
Ppef2 A C 5: 92,376,599 (GRCm39) probably null Het
Rabac1 T A 7: 24,669,392 (GRCm39) Q212L possibly damaging Het
Rad51 T C 2: 118,950,973 (GRCm39) probably benign Het
Rbm48 A T 5: 3,641,853 (GRCm39) probably benign Het
Rft1 C T 14: 30,399,761 (GRCm39) S315L probably benign Het
Rgs13 C T 1: 144,047,217 (GRCm39) M1I probably null Het
Rhbg A C 3: 88,154,760 (GRCm39) S215A probably benign Het
Rufy2 A T 10: 62,837,990 (GRCm39) N379I probably damaging Het
Slc17a1 T C 13: 24,064,637 (GRCm39) L367P probably damaging Het
Slc25a39 G A 11: 102,294,501 (GRCm39) R308C probably benign Het
Smo A G 6: 29,753,570 (GRCm39) T149A probably benign Het
Sqle A G 15: 59,187,934 (GRCm39) K81E probably benign Het
Tfpi A G 2: 84,282,899 (GRCm39) probably null Het
Tnk2 A G 16: 32,498,448 (GRCm39) D572G probably damaging Het
Ubr5 A T 15: 38,006,808 (GRCm39) M1149K probably benign Het
Utrn T A 10: 12,603,502 (GRCm39) Q626L probably damaging Het
Virma T A 4: 11,544,971 (GRCm39) H1643Q probably damaging Het
Wnt3 G T 11: 103,699,031 (GRCm39) G46C possibly damaging Het
Zkscan7 G T 9: 122,719,865 (GRCm39) G184* probably null Het
Other mutations in Kif13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Kif13b APN 14 64,907,142 (GRCm39) missense possibly damaging 0.81
IGL00485:Kif13b APN 14 65,002,522 (GRCm39) missense possibly damaging 0.88
IGL00495:Kif13b APN 14 64,951,562 (GRCm39) missense probably benign 0.07
IGL00556:Kif13b APN 14 64,982,337 (GRCm39) missense probably damaging 1.00
IGL00571:Kif13b APN 14 64,983,866 (GRCm39) missense probably damaging 0.99
IGL00590:Kif13b APN 14 65,016,911 (GRCm39) missense probably damaging 1.00
IGL01650:Kif13b APN 14 65,002,594 (GRCm39) missense probably benign 0.00
IGL01730:Kif13b APN 14 64,987,810 (GRCm39) critical splice donor site probably null
IGL01908:Kif13b APN 14 64,995,007 (GRCm39) missense probably damaging 1.00
IGL02388:Kif13b APN 14 65,037,807 (GRCm39) missense probably damaging 1.00
IGL02573:Kif13b APN 14 65,040,880 (GRCm39) missense probably damaging 1.00
IGL02661:Kif13b APN 14 65,005,140 (GRCm39) missense probably benign 0.06
IGL02794:Kif13b APN 14 65,040,889 (GRCm39) missense probably benign 0.00
IGL02959:Kif13b APN 14 65,005,166 (GRCm39) missense probably damaging 1.00
IGL02979:Kif13b APN 14 65,027,146 (GRCm39) missense probably damaging 0.96
IGL03114:Kif13b APN 14 65,025,897 (GRCm39) missense probably benign 0.00
R0024:Kif13b UTSW 14 64,987,722 (GRCm39) missense probably benign 0.30
R0330:Kif13b UTSW 14 65,040,669 (GRCm39) missense probably benign
R0376:Kif13b UTSW 14 64,994,853 (GRCm39) splice site probably benign
R0571:Kif13b UTSW 14 64,988,977 (GRCm39) missense probably damaging 1.00
R0718:Kif13b UTSW 14 64,989,111 (GRCm39) splice site probably benign
R1144:Kif13b UTSW 14 64,951,566 (GRCm39) missense probably benign 0.01
R1183:Kif13b UTSW 14 65,019,826 (GRCm39) missense probably benign 0.00
R1264:Kif13b UTSW 14 65,013,681 (GRCm39) splice site probably benign
R1497:Kif13b UTSW 14 64,973,715 (GRCm39) missense probably damaging 0.99
R1579:Kif13b UTSW 14 65,019,790 (GRCm39) critical splice acceptor site probably null
R1624:Kif13b UTSW 14 64,976,068 (GRCm39) missense probably damaging 0.99
R1706:Kif13b UTSW 14 64,998,115 (GRCm39) splice site probably benign
R2176:Kif13b UTSW 14 64,907,120 (GRCm39) missense probably benign 0.01
R3727:Kif13b UTSW 14 65,003,197 (GRCm39) splice site probably benign
R3785:Kif13b UTSW 14 65,037,849 (GRCm39) missense probably benign 0.00
R3786:Kif13b UTSW 14 65,037,849 (GRCm39) missense probably benign 0.00
R4088:Kif13b UTSW 14 65,004,904 (GRCm39) critical splice donor site probably null
R4279:Kif13b UTSW 14 65,016,805 (GRCm39) missense probably damaging 1.00
R4559:Kif13b UTSW 14 65,043,581 (GRCm39) missense probably damaging 0.98
R4689:Kif13b UTSW 14 65,010,513 (GRCm39) missense probably damaging 1.00
R4692:Kif13b UTSW 14 65,041,024 (GRCm39) missense probably benign 0.05
R4971:Kif13b UTSW 14 64,995,011 (GRCm39) missense possibly damaging 0.90
R5037:Kif13b UTSW 14 64,996,038 (GRCm39) nonsense probably null
R5119:Kif13b UTSW 14 64,994,902 (GRCm39) missense probably benign 0.01
R5167:Kif13b UTSW 14 65,010,384 (GRCm39) missense probably damaging 1.00
R5408:Kif13b UTSW 14 65,017,138 (GRCm39) critical splice acceptor site probably null
R5437:Kif13b UTSW 14 65,043,563 (GRCm39) missense probably damaging 0.99
R5756:Kif13b UTSW 14 64,973,754 (GRCm39) missense probably damaging 1.00
R5838:Kif13b UTSW 14 64,975,004 (GRCm39) missense probably damaging 1.00
R5891:Kif13b UTSW 14 65,025,854 (GRCm39) splice site probably null
R6120:Kif13b UTSW 14 64,989,007 (GRCm39) missense probably damaging 1.00
R6150:Kif13b UTSW 14 64,989,088 (GRCm39) missense probably damaging 0.99
R6165:Kif13b UTSW 14 64,979,760 (GRCm39) missense probably damaging 1.00
R6187:Kif13b UTSW 14 64,973,664 (GRCm39) missense probably damaging 1.00
R6229:Kif13b UTSW 14 64,976,016 (GRCm39) missense probably damaging 1.00
R6267:Kif13b UTSW 14 64,976,083 (GRCm39) missense probably damaging 1.00
R6347:Kif13b UTSW 14 65,005,068 (GRCm39) missense probably benign 0.26
R6479:Kif13b UTSW 14 64,988,974 (GRCm39) missense probably benign 0.08
R6512:Kif13b UTSW 14 64,982,323 (GRCm39) critical splice acceptor site probably null
R6851:Kif13b UTSW 14 65,010,514 (GRCm39) missense probably damaging 1.00
R7131:Kif13b UTSW 14 65,010,517 (GRCm39) missense probably damaging 1.00
R7217:Kif13b UTSW 14 65,010,517 (GRCm39) missense probably damaging 1.00
R7398:Kif13b UTSW 14 64,994,972 (GRCm39) missense probably null 0.02
R7427:Kif13b UTSW 14 65,025,909 (GRCm39) missense probably benign
R7428:Kif13b UTSW 14 65,025,909 (GRCm39) missense probably benign
R7573:Kif13b UTSW 14 65,041,107 (GRCm39) missense probably benign 0.00
R7629:Kif13b UTSW 14 65,016,784 (GRCm39) nonsense probably null
R7683:Kif13b UTSW 14 64,994,956 (GRCm39) missense probably benign 0.24
R7835:Kif13b UTSW 14 65,004,901 (GRCm39) missense probably benign 0.00
R7895:Kif13b UTSW 14 64,973,598 (GRCm39) missense probably damaging 1.00
R8285:Kif13b UTSW 14 65,019,825 (GRCm39) missense probably benign 0.03
R8374:Kif13b UTSW 14 65,025,884 (GRCm39) missense probably damaging 0.97
R8467:Kif13b UTSW 14 64,996,154 (GRCm39) missense probably damaging 0.96
R8804:Kif13b UTSW 14 64,987,791 (GRCm39) missense probably damaging 0.99
R8859:Kif13b UTSW 14 64,979,882 (GRCm39) missense probably benign 0.04
R8891:Kif13b UTSW 14 64,982,326 (GRCm39) missense probably damaging 1.00
R9236:Kif13b UTSW 14 64,982,383 (GRCm39) missense probably benign 0.22
R9446:Kif13b UTSW 14 64,984,470 (GRCm39) missense probably damaging 1.00
R9589:Kif13b UTSW 14 65,013,759 (GRCm39) missense possibly damaging 0.82
Z1176:Kif13b UTSW 14 65,040,793 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGGAGGTAGCAGCATGATG -3'
(R):5'- AAAGCATTCATGGCCCTGC -3'

Sequencing Primer
(F):5'- TAGCAGCATGATGGATGAACAC -3'
(R):5'- ATGGCCCTGCTCCCATG -3'
Posted On 2016-03-17