Incidental Mutation 'IGL01697:Kif5b'
ID 104305
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 # IGL01697
Quality Score
Status
Chromosome 18
Chromosomal Location 6201002-6242174 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6226871 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 129 (H129R)
Ref Sequence ENSEMBL: ENSMUSP00000130750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025083] [ENSMUST00000163210]
AlphaFold Q61768
Predicted Effect probably benign
Transcript: ENSMUST00000025083
AA Change: H129R

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000025083
Gene: ENSMUSG00000006740
AA Change: H129R

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 possibly damaging
Transcript: ENSMUST00000163210
AA Change: H129R

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130750
Gene: ENSMUSG00000006740
AA Change: H129R

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: ENSMUST00000166249
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T A 4: 156,119,156 (GRCm38) probably benign Het
Arid2 A C 15: 96,361,572 (GRCm38) probably null Het
Cadm1 C A 9: 47,850,324 (GRCm38) D435E probably damaging Het
Dagla A G 19: 10,271,198 (GRCm38) F33L probably benign Het
Edrf1 A G 7: 133,643,730 (GRCm38) H199R probably benign Het
F5 T A 1: 164,194,052 (GRCm38) N1365K probably benign Het
Gipc2 T G 3: 152,137,608 (GRCm38) I131L probably benign Het
Gpc1 C T 1: 92,858,410 (GRCm38) S507F possibly damaging Het
Grid1 A G 14: 35,309,257 (GRCm38) D269G probably benign Het
Ighv12-3 A T 12: 114,366,953 (GRCm38) M1K probably null Het
Lipo3 A T 19: 33,559,565 (GRCm38) C252S probably damaging Het
Mast4 A C 13: 102,767,893 (GRCm38) N645K probably damaging Het
Megf9 T A 4: 70,433,472 (GRCm38) T471S possibly damaging Het
Mmrn1 A G 6: 60,976,493 (GRCm38) D586G possibly damaging Het
Ninl A T 2: 150,939,947 (GRCm38) L1206Q probably damaging Het
Oog2 T A 4: 144,195,184 (GRCm38) N221K possibly damaging Het
Or13a17 T C 7: 140,691,652 (GRCm38) V249A possibly damaging Het
Or5b96 T A 19: 12,890,467 (GRCm38) T37S probably benign Het
Or6c8b C A 10: 129,046,502 (GRCm38) C187F probably damaging Het
Pik3ap1 G A 19: 41,324,579 (GRCm38) A365V probably damaging Het
Ppwd1 T C 13: 104,220,464 (GRCm38) E181G probably benign Het
Scaf11 A C 15: 96,423,623 (GRCm38) probably benign Het
Skic3 C T 13: 76,128,733 (GRCm38) L479F probably benign Het
Skint7 T A 4: 111,980,457 (GRCm38) probably benign Het
Sox14 T C 9: 99,875,663 (GRCm38) I8V probably benign Het
Spata31f3 T A 4: 42,874,163 (GRCm38) M2L probably benign Het
Stim1 A T 7: 102,425,969 (GRCm38) probably benign Het
Ttll3 T C 6: 113,399,729 (GRCm38) S357P probably benign Het
Vmn1r178 T A 7: 23,893,689 (GRCm38) I54N probably damaging Het
Zdhhc2 T C 8: 40,467,419 (GRCm38) probably benign Het
Other mutations in Kif5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Kif5b APN 18 6,226,973 (GRCm38) splice site probably benign
IGL01759:Kif5b APN 18 6,211,019 (GRCm38) unclassified probably benign
IGL01759:Kif5b APN 18 6,225,647 (GRCm38) missense probably damaging 0.99
IGL02027:Kif5b APN 18 6,209,089 (GRCm38) missense possibly damaging 0.81
IGL02553:Kif5b APN 18 6,220,914 (GRCm38) missense probably benign 0.00
IGL03327:Kif5b APN 18 6,222,767 (GRCm38) missense probably damaging 0.96
IGL03346:Kif5b APN 18 6,222,767 (GRCm38) missense probably damaging 0.96
e-enhancer UTSW 18 6,213,272 (GRCm38) missense probably benign 0.00
R0440:Kif5b UTSW 18 6,226,980 (GRCm38) splice site probably benign
R0743:Kif5b UTSW 18 6,209,192 (GRCm38) missense probably damaging 1.00
R1241:Kif5b UTSW 18 6,214,044 (GRCm38) missense probably benign 0.07
R1386:Kif5b UTSW 18 6,226,383 (GRCm38) missense probably damaging 0.99
R1720:Kif5b UTSW 18 6,213,427 (GRCm38) missense probably benign
R1964:Kif5b UTSW 18 6,209,059 (GRCm38) missense possibly damaging 0.85
R2061:Kif5b UTSW 18 6,226,377 (GRCm38) splice site probably null
R2091:Kif5b UTSW 18 6,213,248 (GRCm38) nonsense probably null
R4510:Kif5b UTSW 18 6,214,011 (GRCm38) missense probably benign 0.01
R4511:Kif5b UTSW 18 6,214,011 (GRCm38) missense probably benign 0.01
R4515:Kif5b UTSW 18 6,208,257 (GRCm38) missense probably benign
R4517:Kif5b UTSW 18 6,213,272 (GRCm38) missense probably benign 0.00
R4690:Kif5b UTSW 18 6,216,759 (GRCm38) missense probably benign
R4838:Kif5b UTSW 18 6,216,869 (GRCm38) missense probably damaging 1.00
R4865:Kif5b UTSW 18 6,222,912 (GRCm38) intron probably benign
R4906:Kif5b UTSW 18 6,220,930 (GRCm38) missense probably benign 0.00
R5260:Kif5b UTSW 18 6,211,058 (GRCm38) missense probably damaging 1.00
R5290:Kif5b UTSW 18 6,234,882 (GRCm38) missense probably damaging 1.00
R5517:Kif5b UTSW 18 6,220,954 (GRCm38) missense probably benign 0.00
R5588:Kif5b UTSW 18 6,225,787 (GRCm38) missense probably benign 0.03
R5621:Kif5b UTSW 18 6,226,883 (GRCm38) missense probably benign 0.41
R6269:Kif5b UTSW 18 6,223,558 (GRCm38) missense possibly damaging 0.88
R6377:Kif5b UTSW 18 6,212,562 (GRCm38) missense probably damaging 1.00
R6955:Kif5b UTSW 18 6,211,070 (GRCm38) missense probably benign 0.09
R7256:Kif5b UTSW 18 6,225,340 (GRCm38) missense probably damaging 0.99
R7536:Kif5b UTSW 18 6,216,235 (GRCm38) missense probably benign 0.05
R7892:Kif5b UTSW 18 6,212,517 (GRCm38) missense probably benign 0.02
R7962:Kif5b UTSW 18 6,241,040 (GRCm38) missense probably benign 0.02
R8238:Kif5b UTSW 18 6,227,619 (GRCm38) missense probably damaging 1.00
R8444:Kif5b UTSW 18 6,213,245 (GRCm38) missense probably benign 0.00
R8464:Kif5b UTSW 18 6,225,381 (GRCm38) missense probably damaging 1.00
R8670:Kif5b UTSW 18 6,214,631 (GRCm38) missense probably benign 0.01
R8691:Kif5b UTSW 18 6,225,787 (GRCm38) missense probably benign 0.38
R8796:Kif5b UTSW 18 6,226,965 (GRCm38) missense probably benign 0.01
R8897:Kif5b UTSW 18 6,225,437 (GRCm38) missense probably damaging 1.00
R8989:Kif5b UTSW 18 6,209,021 (GRCm38) missense probably damaging 0.98
R9003:Kif5b UTSW 18 6,224,047 (GRCm38) missense probably benign 0.33
R9015:Kif5b UTSW 18 6,216,892 (GRCm38) missense probably damaging 0.99
R9047:Kif5b UTSW 18 6,208,261 (GRCm38) missense probably benign
R9369:Kif5b UTSW 18 6,223,584 (GRCm38) missense probably damaging 1.00
R9622:Kif5b UTSW 18 6,225,672 (GRCm38) missense probably damaging 1.00
Posted On 2014-01-21