Incidental Mutation 'R6120:Kif13b'
ID 485732
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 044268-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6120 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 64889633-65047067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64989007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 796 (N796I)
Ref Sequence ENSEMBL: ENSMUSP00000153168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100473] [ENSMUST00000224503]
AlphaFold A0A286YCV9
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082508
Predicted Effect probably damaging
Transcript: ENSMUST00000100473
AA Change: N796I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: N796I

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 damaging
Transcript: ENSMUST00000224503
AA Change: N796I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3256 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.6%
Validation Efficiency 98% (55/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,638,795 (GRCm39) V398E possibly damaging Het
Ankef1 A G 2: 136,392,296 (GRCm39) N495S probably benign Het
Bpifb3 G T 2: 153,773,363 (GRCm39) V428L probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ccdc178 A G 18: 22,230,785 (GRCm39) L362S probably benign Het
Ccdc33 G A 9: 57,993,883 (GRCm39) P88S probably damaging Het
Cdk14 A T 5: 4,944,029 (GRCm39) D385E probably damaging Het
Chrna4 A G 2: 180,666,599 (GRCm39) L613P probably damaging Het
Cnot3 T A 7: 3,648,335 (GRCm39) probably null Het
Csf1 T A 3: 107,661,170 (GRCm39) I116L probably damaging Het
Csrp2 G T 10: 110,775,140 (GRCm39) A192S probably benign Het
Dnah9 T C 11: 66,038,225 (GRCm39) T104A probably benign Het
Eml1 C T 12: 108,493,983 (GRCm39) P593S probably damaging Het
Entpd2 T A 2: 25,289,478 (GRCm39) I320N probably benign Het
Exosc9 A T 3: 36,608,821 (GRCm39) N140I probably damaging Het
Fam186a T C 15: 99,838,244 (GRCm39) T2667A probably benign Het
Fes T C 7: 80,030,615 (GRCm39) D558G probably damaging Het
Fgfr2 G T 7: 129,830,420 (GRCm39) T186K probably benign Het
Fnip1 A G 11: 54,400,826 (GRCm39) E1075G probably benign Het
Gbf1 A G 19: 46,267,760 (GRCm39) I1203V possibly damaging Het
Gja1 T A 10: 56,264,601 (GRCm39) M320K probably benign Het
Gm5431 A G 11: 48,785,608 (GRCm39) Y256H probably benign Het
Gpr20 C T 15: 73,567,853 (GRCm39) V179M probably damaging Het
Greb1 T G 12: 16,758,622 (GRCm39) D698A probably damaging Het
Hook2 A G 8: 85,724,754 (GRCm39) E500G probably damaging Het
Kif1a C T 1: 92,952,296 (GRCm39) probably null Het
Lama1 T C 17: 68,087,612 (GRCm39) probably null Het
Mfsd1 C T 3: 67,501,718 (GRCm39) Q246* probably null Het
Mkrn3 A G 7: 62,069,282 (GRCm39) S170P probably benign Het
Ms4a6b A G 19: 11,499,059 (GRCm39) M58V probably benign Het
Muc4 T C 16: 32,577,169 (GRCm39) V2223A unknown Het
Mycbp2 A T 14: 103,513,323 (GRCm39) V811D probably benign Het
Or5p59 A T 7: 107,703,340 (GRCm39) N275Y probably damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Or9g4b T C 2: 85,616,685 (GRCm39) F277L probably damaging Het
Pcsk2 A G 2: 143,643,031 (GRCm39) E436G probably damaging Het
Pet100 T G 8: 3,671,764 (GRCm39) probably null Het
Pira2 A G 7: 3,844,553 (GRCm39) Y493H probably damaging Het
Prkdc C A 16: 15,557,335 (GRCm39) R2213S probably benign Het
Prmt2 A G 10: 76,045,280 (GRCm39) I342T possibly damaging Het
Psmc6 A G 14: 45,586,130 (GRCm39) E381G possibly damaging Het
Rrm1 G A 7: 102,110,063 (GRCm39) probably null Het
Sema3c A G 5: 17,932,630 (GRCm39) D711G probably benign Het
Sgcb T C 5: 73,798,153 (GRCm39) E103G possibly damaging Het
Sh3pxd2a A G 19: 47,255,848 (GRCm39) S957P probably damaging Het
Slc26a2 A G 18: 61,332,489 (GRCm39) V314A possibly damaging Het
Smarca5 G T 8: 81,438,372 (GRCm39) H655N probably damaging Het
Sspo T A 6: 48,442,510 (GRCm39) S2002T probably damaging Het
Sync T C 4: 129,187,544 (GRCm39) L192P probably damaging Het
Ush2a T C 1: 188,090,800 (GRCm39) M477T probably benign Het
Vav3 C T 3: 109,571,681 (GRCm39) T201M probably damaging Het
Vcam1 A G 3: 115,918,049 (GRCm39) V304A probably damaging Het
Vmn2r115 T A 17: 23,565,003 (GRCm39) W297R probably damaging Het
Vmn2r120 T A 17: 57,832,973 (GRCm39) M69L probably benign Het
Wdr11 A G 7: 129,226,515 (GRCm39) D771G probably damaging 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
R4878:Kif13b UTSW 14 65,043,603 (GRCm39) missense probably benign 0.00
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
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'- AGGTTAGTGCTCTCAGTTGC -3'
(R):5'- ACAACAAGTGTCCTGTCAGTAC -3'

Sequencing Primer
(F):5'- AATGTCATGCAGTGAGACCCAGTC -3'
(R):5'- AAGTGTCCTGTCAGTACCCCTC -3'
Posted On 2017-08-16