Incidental Mutation 'IGL00486:Kif28'
ID332202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif28
Ensembl Gene ENSMUSG00000087236
Gene Namekinesin family member 28
SynonymsLOC383592, Gm1305
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.458) question?
Stock #IGL00486
Quality Score
Status
Chromosome1
Chromosomal Location179695297-179745271 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 179702516 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 693 (L693F)
Ref Sequence ENSEMBL: ENSMUSP00000152770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000131716] [ENSMUST00000211943] [ENSMUST00000221136] [ENSMUST00000223392]
Predicted Effect probably damaging
Transcript: ENSMUST00000131716
AA Change: L693F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118935
Gene: ENSMUSG00000087236
AA Change: L693F

DomainStartEndE-ValueType
KISc 3 331 1.02e-120 SMART
low complexity region 343 354 N/A INTRINSIC
FHA 424 473 1.12e-3 SMART
Pfam:KIF1B 615 654 1.3e-7 PFAM
low complexity region 842 857 N/A INTRINSIC
low complexity region 959 973 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000211943
AA Change: L625F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000221136
AA Change: L693F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000223392
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,853 T576A probably damaging Het
As3mt A G 19: 46,720,425 E286G probably benign Het
Baiap3 G T 17: 25,248,377 probably benign Het
C1qc T C 4: 136,890,134 E217G probably damaging Het
Ccser2 A G 14: 36,940,064 Y388H probably damaging Het
Clcn7 C A 17: 25,151,123 A328D probably damaging Het
Clstn1 G A 4: 149,635,243 R415Q probably damaging Het
Hcn4 T C 9: 58,860,053 S966P unknown Het
Heph A T X: 96,527,678 D748V probably damaging Het
Herc1 C T 9: 66,476,120 T3691I probably benign Het
Hsd17b14 A G 7: 45,566,713 T236A possibly damaging Het
Mnd1 T C 3: 84,138,198 E33G possibly damaging Het
Nbas T G 12: 13,453,075 D1520E probably benign Het
Poli C T 18: 70,525,490 G81R probably damaging Het
Pou6f2 G A 13: 18,139,585 S401F probably damaging Het
Ppp1r3c G A 19: 36,733,924 R149W probably damaging Het
Ptprc C A 1: 138,115,621 C64F probably damaging Het
Ptprz1 T C 6: 22,973,054 Y274H probably damaging Het
Ranbp2 T A 10: 58,477,612 L1385I probably benign Het
Sgms1 A T 19: 32,159,625 F180L probably damaging Het
Slc7a9 T A 7: 35,460,887 M396K probably damaging Het
Syt17 T C 7: 118,434,290 D165G probably damaging Het
Tnxb T C 17: 34,692,382 L1553P probably damaging Het
Trim31 C A 17: 36,909,241 Q350K probably benign Het
Wnk3 A G X: 151,233,029 R494G probably damaging Het
Zmym6 A G 4: 127,124,185 probably benign Het
Other mutations in Kif28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Kif28 APN 1 179739957 missense probably benign 0.14
R0348:Kif28 UTSW 1 179731253 missense probably damaging 1.00
R0388:Kif28 UTSW 1 179740089 missense possibly damaging 0.71
R0412:Kif28 UTSW 1 179702526 missense probably benign 0.01
R0788:Kif28 UTSW 1 179705223 unclassified probably benign
R0960:Kif28 UTSW 1 179695805 nonsense probably null
R1365:Kif28 UTSW 1 179739987 nonsense probably null
R1420:Kif28 UTSW 1 179702397 missense probably damaging 1.00
R1442:Kif28 UTSW 1 179705132 missense possibly damaging 0.73
R1507:Kif28 UTSW 1 179736006 missense probably damaging 1.00
R1818:Kif28 UTSW 1 179705754 missense possibly damaging 0.66
R1819:Kif28 UTSW 1 179705754 missense possibly damaging 0.66
R1903:Kif28 UTSW 1 179702523 missense possibly damaging 0.63
R2221:Kif28 UTSW 1 179733111 missense possibly damaging 0.80
R2358:Kif28 UTSW 1 179709459 missense probably damaging 1.00
R4916:Kif28 UTSW 1 179702520 missense probably benign 0.09
R4943:Kif28 UTSW 1 179713951 missense probably benign 0.02
R4967:Kif28 UTSW 1 179708442 missense probably damaging 1.00
R4974:Kif28 UTSW 1 179698644 missense probably damaging 0.98
R5152:Kif28 UTSW 1 179702538 missense probably damaging 1.00
R5382:Kif28 UTSW 1 179700282 missense probably damaging 1.00
R5649:Kif28 UTSW 1 179697771 splice site probably null
R5999:Kif28 UTSW 1 179695790 missense probably damaging 1.00
R6017:Kif28 UTSW 1 179699453 missense probably benign 0.24
R6180:Kif28 UTSW 1 179697772 splice site probably null
R6875:Kif28 UTSW 1 179735994 missense probably damaging 0.98
R7400:Kif28 UTSW 1 179700274 missense probably damaging 1.00
R7402:Kif28 UTSW 1 179740079 missense probably benign 0.00
R7530:Kif28 UTSW 1 179708480 missense probably benign 0.31
R7589:Kif28 UTSW 1 179731400 missense probably benign 0.01
R7648:Kif28 UTSW 1 179709424 missense possibly damaging 0.89
R7815:Kif28 UTSW 1 179735983 missense probably damaging 1.00
R8030:Kif28 UTSW 1 179699064 missense probably benign 0.04
R8050:Kif28 UTSW 1 179709449 missense probably benign 0.00
Z1176:Kif28 UTSW 1 179733134 missense probably benign 0.05
Z1177:Kif28 UTSW 1 179728219 missense not run
Posted On2015-08-05