Incidental Mutation 'IGL01759:Kif5b'
ID 153543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif5b
Ensembl Gene ENSMUSG00000006740
Gene Name kinesin family member 5B
Synonyms kinesin heavy chain, Khc
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01759
Quality Score
Status
Chromosome 18
Chromosomal Location 6201005-6241524 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 6211019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025083] [ENSMUST00000163210]
AlphaFold Q61768
Predicted Effect probably benign
Transcript: ENSMUST00000025083
SMART Domains Protein: ENSMUSP00000025083
Gene: ENSMUSG00000006740

DomainStartEndE-ValueType
KISc 6 333 4.48e-172 SMART
low complexity region 341 352 N/A INTRINSIC
coiled coil region 412 564 N/A INTRINSIC
coiled coil region 596 802 N/A INTRINSIC
coiled coil region 825 914 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163210
SMART Domains Protein: ENSMUSP00000130750
Gene: ENSMUSG00000006740

DomainStartEndE-ValueType
KISc 6 333 4.48e-172 SMART
low complexity region 341 352 N/A INTRINSIC
coiled coil region 412 564 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168187
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos during organogenesis, exhibit growth retardation and fail to turn during gastrulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,726,625 (GRCm39) D150E probably damaging Het
Akr1c14 T A 13: 4,131,139 (GRCm39) I277N probably damaging Het
Ap1b1 C T 11: 4,969,433 (GRCm39) T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 (GRCm39) V313L probably damaging Het
Car2 G A 3: 14,960,688 (GRCm39) probably null Het
Cdh17 T A 4: 11,771,262 (GRCm39) probably benign Het
Cep295 A G 9: 15,234,855 (GRCm39) probably null Het
Cep97 T C 16: 55,750,936 (GRCm39) K27E probably damaging Het
Cops5 A T 1: 10,097,474 (GRCm39) N258K probably damaging Het
Dchs1 T A 7: 105,404,509 (GRCm39) T2678S probably benign Het
Dnah10 T A 5: 124,832,850 (GRCm39) F861Y probably benign Het
Dock10 T C 1: 80,503,990 (GRCm39) E1777G probably damaging Het
Dock5 G A 14: 68,118,708 (GRCm39) Q23* probably null Het
Ermp1 T C 19: 29,593,236 (GRCm39) K752R probably benign Het
Fhip1a A C 3: 85,595,754 (GRCm39) I377S probably damaging Het
Gjd2 T A 2: 113,841,587 (GRCm39) I297L probably benign Het
Gm1123 T C 9: 98,905,307 (GRCm39) M68V probably benign Het
Gm28372 C T 2: 130,248,818 (GRCm39) R59W probably damaging Het
Gm9912 A C 3: 148,891,074 (GRCm39) F20V unknown Het
Gpat2 T C 2: 127,272,816 (GRCm39) F176S possibly damaging Het
Gpr150 T C 13: 76,203,784 (GRCm39) H387R possibly damaging Het
Gpr20 T A 15: 73,568,269 (GRCm39) D40V probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Jakmip3 A T 7: 138,622,633 (GRCm39) Q331L probably damaging Het
Krt14 A T 11: 100,095,242 (GRCm39) probably benign Het
L3mbtl3 A G 10: 26,207,798 (GRCm39) F307S unknown Het
Laptm4a T C 12: 8,984,687 (GRCm39) probably benign Het
Marveld3 T C 8: 110,674,719 (GRCm39) S366G possibly damaging Het
Mga C A 2: 119,781,676 (GRCm39) T2234K possibly damaging Het
Mkrn2os T C 6: 115,569,292 (GRCm39) N54S probably benign Het
Mras T C 9: 99,293,548 (GRCm39) I31V probably damaging Het
Myh1 A G 11: 67,110,732 (GRCm39) D1518G probably damaging Het
Myoz2 A T 3: 122,807,430 (GRCm39) Y127N possibly damaging Het
Nhlrc1 C A 13: 47,167,438 (GRCm39) W273L probably benign Het
Nol9 C T 4: 152,130,500 (GRCm39) probably benign Het
Nrxn2 T C 19: 6,559,959 (GRCm39) V1206A probably damaging Het
Or2ag1b T C 7: 106,288,540 (GRCm39) T133A probably benign Het
Or5k16 A T 16: 58,736,291 (GRCm39) F238I probably damaging Het
Or6c5 T A 10: 129,074,941 (GRCm39) F308I probably benign Het
Or6f2 T C 7: 139,756,447 (GRCm39) I138T probably benign Het
Or8g2b T A 9: 39,750,907 (GRCm39) M59K probably damaging Het
Pappa T C 4: 65,123,395 (GRCm39) probably null Het
Pfkl A G 10: 77,836,565 (GRCm39) S151P probably damaging Het
Pgbd5 C T 8: 125,111,118 (GRCm39) G191D probably damaging Het
Pikfyve T C 1: 65,292,512 (GRCm39) V1276A probably benign Het
Pla2g4c T A 7: 13,082,241 (GRCm39) Y486N probably damaging Het
Rasal2 C A 1: 157,003,502 (GRCm39) V386L probably benign Het
S1pr3 G A 13: 51,573,548 (GRCm39) R243Q probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Slc6a4 T C 11: 76,904,114 (GRCm39) S190P probably damaging Het
Snapc5 A T 9: 64,087,779 (GRCm39) probably null Het
Tbc1d14 C A 5: 36,728,913 (GRCm39) R151L probably damaging Het
Tecpr2 T A 12: 110,897,826 (GRCm39) probably benign Het
Tmem219 G A 7: 126,496,310 (GRCm39) P44L probably damaging Het
Ube2e1 T C 14: 18,330,951 (GRCm38) R51G probably null Het
Ugp2 T C 11: 21,303,447 (GRCm39) K53E probably benign Het
Vmn1r214 T C 13: 23,218,662 (GRCm39) I52T probably benign Het
Vmn2r124 C T 17: 18,284,330 (GRCm39) T457I probably benign Het
Vps13b A G 15: 35,878,935 (GRCm39) E2978G probably damaging Het
Zfr A G 15: 12,159,741 (GRCm39) D679G probably damaging Het
Zhx3 T C 2: 160,622,634 (GRCm39) N511S probably damaging Het
Other mutations in Kif5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Kif5b APN 18 6,226,973 (GRCm39) splice site probably benign
IGL01697:Kif5b APN 18 6,226,871 (GRCm39) missense possibly damaging 0.68
IGL01759:Kif5b APN 18 6,225,647 (GRCm39) missense probably damaging 0.99
IGL02027:Kif5b APN 18 6,209,089 (GRCm39) missense possibly damaging 0.81
IGL02553:Kif5b APN 18 6,220,914 (GRCm39) missense probably benign 0.00
IGL03327:Kif5b APN 18 6,222,767 (GRCm39) missense probably damaging 0.96
IGL03346:Kif5b APN 18 6,222,767 (GRCm39) missense probably damaging 0.96
e-enhancer UTSW 18 6,213,272 (GRCm39) missense probably benign 0.00
R0440:Kif5b UTSW 18 6,226,980 (GRCm39) splice site probably benign
R0743:Kif5b UTSW 18 6,209,192 (GRCm39) missense probably damaging 1.00
R1241:Kif5b UTSW 18 6,214,044 (GRCm39) missense probably benign 0.07
R1386:Kif5b UTSW 18 6,226,383 (GRCm39) missense probably damaging 0.99
R1720:Kif5b UTSW 18 6,213,427 (GRCm39) missense probably benign
R1964:Kif5b UTSW 18 6,209,059 (GRCm39) missense possibly damaging 0.85
R2061:Kif5b UTSW 18 6,226,377 (GRCm39) splice site probably null
R2091:Kif5b UTSW 18 6,213,248 (GRCm39) nonsense probably null
R4510:Kif5b UTSW 18 6,214,011 (GRCm39) missense probably benign 0.01
R4511:Kif5b UTSW 18 6,214,011 (GRCm39) missense probably benign 0.01
R4515:Kif5b UTSW 18 6,208,257 (GRCm39) missense probably benign
R4517:Kif5b UTSW 18 6,213,272 (GRCm39) missense probably benign 0.00
R4690:Kif5b UTSW 18 6,216,759 (GRCm39) missense probably benign
R4838:Kif5b UTSW 18 6,216,869 (GRCm39) missense probably damaging 1.00
R4865:Kif5b UTSW 18 6,222,912 (GRCm39) intron probably benign
R4906:Kif5b UTSW 18 6,220,930 (GRCm39) missense probably benign 0.00
R5260:Kif5b UTSW 18 6,211,058 (GRCm39) missense probably damaging 1.00
R5290:Kif5b UTSW 18 6,234,882 (GRCm39) missense probably damaging 1.00
R5517:Kif5b UTSW 18 6,220,954 (GRCm39) missense probably benign 0.00
R5588:Kif5b UTSW 18 6,225,787 (GRCm39) missense probably benign 0.03
R5621:Kif5b UTSW 18 6,226,883 (GRCm39) missense probably benign 0.41
R6269:Kif5b UTSW 18 6,223,558 (GRCm39) missense possibly damaging 0.88
R6377:Kif5b UTSW 18 6,212,562 (GRCm39) missense probably damaging 1.00
R6955:Kif5b UTSW 18 6,211,070 (GRCm39) missense probably benign 0.09
R7256:Kif5b UTSW 18 6,225,340 (GRCm39) missense probably damaging 0.99
R7536:Kif5b UTSW 18 6,216,235 (GRCm39) missense probably benign 0.05
R7892:Kif5b UTSW 18 6,212,517 (GRCm39) missense probably benign 0.02
R7962:Kif5b UTSW 18 6,241,040 (GRCm39) missense probably benign 0.02
R8238:Kif5b UTSW 18 6,227,619 (GRCm39) missense probably damaging 1.00
R8444:Kif5b UTSW 18 6,213,245 (GRCm39) missense probably benign 0.00
R8464:Kif5b UTSW 18 6,225,381 (GRCm39) missense probably damaging 1.00
R8670:Kif5b UTSW 18 6,214,631 (GRCm39) missense probably benign 0.01
R8691:Kif5b UTSW 18 6,225,787 (GRCm39) missense probably benign 0.38
R8796:Kif5b UTSW 18 6,226,965 (GRCm39) missense probably benign 0.01
R8897:Kif5b UTSW 18 6,225,437 (GRCm39) missense probably damaging 1.00
R8989:Kif5b UTSW 18 6,209,021 (GRCm39) missense probably damaging 0.98
R9003:Kif5b UTSW 18 6,224,047 (GRCm39) missense probably benign 0.33
R9015:Kif5b UTSW 18 6,216,892 (GRCm39) missense probably damaging 0.99
R9047:Kif5b UTSW 18 6,208,261 (GRCm39) missense probably benign
R9369:Kif5b UTSW 18 6,223,584 (GRCm39) missense probably damaging 1.00
R9622:Kif5b UTSW 18 6,225,672 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04