Incidental Mutation 'IGL00556:Kif13b'
ID 4170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif13b
Ensembl Gene ENSMUSG00000060012
Gene Name kinesin family member 13B
Synonyms C130021D12Rik, 5330429L19Rik, N-3 kinesin, GAKIN
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00556
Quality Score
Status
Chromosome 14
Chromosomal Location 64889633-65047067 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64982337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 516 (N516K)
Ref Sequence ENSEMBL: ENSMUSP00000153168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100473] [ENSMUST00000224503]
AlphaFold A0A286YCV9
Predicted Effect probably damaging
Transcript: ENSMUST00000100473
AA Change: N516K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098041
Gene: ENSMUSG00000060012
AA Change: N516K

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: N516K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,392,916 (GRCm39) I108V probably benign Het
Atad2 A G 15: 57,963,476 (GRCm39) I723T probably damaging Het
Cct4 T A 11: 22,947,656 (GRCm39) V233E possibly damaging Het
Ces1a A G 8: 93,771,687 (GRCm39) Y37H probably benign Het
Cgnl1 C T 9: 71,563,338 (GRCm39) R863Q probably benign Het
Dnaaf9 T C 2: 130,626,377 (GRCm39) D225G probably benign Het
Fam13b T C 18: 34,630,488 (GRCm39) D90G probably damaging Het
Fhdc1 A T 3: 84,364,549 (GRCm39) D232E possibly damaging Het
Gm6370 A G 5: 146,430,723 (GRCm39) T303A probably benign Het
Gsdmc2 A G 15: 63,700,120 (GRCm39) probably benign Het
Med1 A G 11: 98,046,510 (GRCm39) probably benign Het
Med4 T C 14: 73,754,707 (GRCm39) M190T probably damaging Het
Myo15b T C 11: 115,782,742 (GRCm39) V1534A possibly damaging Het
Neb T C 2: 52,081,961 (GRCm39) R1722G probably benign Het
Obp2b A T 2: 25,628,593 (GRCm39) I116F probably damaging Het
Rims2 A G 15: 39,320,070 (GRCm39) probably null Het
Siglecg A T 7: 43,061,219 (GRCm39) I431F probably benign Het
Thap12 T A 7: 98,365,344 (GRCm39) V504D possibly damaging Het
Tlr7 A C X: 166,091,471 (GRCm39) M5R possibly damaging Het
Tubgcp6 A G 15: 88,985,165 (GRCm39) V1641A probably damaging Het
Ugt2b1 T A 5: 87,074,055 (GRCm39) L101F probably benign Het
Xdh A T 17: 74,191,430 (GRCm39) *1336R 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
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
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
Posted On 2012-04-20