Incidental Mutation 'IGL01716:Kif24'
ID 104950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif24
Ensembl Gene ENSMUSG00000028438
Gene Name kinesin family member 24
Synonyms 4933425J19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01716
Quality Score
Status
Chromosome 4
Chromosomal Location 41390745-41464887 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41393454 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1140 (T1140A)
Ref Sequence ENSEMBL: ENSMUSP00000030148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030148] [ENSMUST00000072866] [ENSMUST00000108055] [ENSMUST00000108060]
AlphaFold Q6NWW5
Predicted Effect probably benign
Transcript: ENSMUST00000030148
AA Change: T1140A

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030148
Gene: ENSMUSG00000028438
AA Change: T1140A

DomainStartEndE-ValueType
KISc 216 413 2.51e-29 SMART
low complexity region 481 499 N/A INTRINSIC
low complexity region 563 574 N/A INTRINSIC
low complexity region 626 644 N/A INTRINSIC
low complexity region 678 695 N/A INTRINSIC
low complexity region 1119 1130 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072866
SMART Domains Protein: ENSMUSP00000072643
Gene: ENSMUSG00000028437

DomainStartEndE-ValueType
coiled coil region 64 95 N/A INTRINSIC
low complexity region 333 348 N/A INTRINSIC
SCOP:d1ifya_ 387 430 5e-10 SMART
PDB:4AE4|B 388 502 1e-74 PDB
Blast:UBA 392 428 7e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000108055
AA Change: T1274A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103690
Gene: ENSMUSG00000028438
AA Change: T1274A

DomainStartEndE-ValueType
Blast:KISc 82 205 1e-47 BLAST
KISc 216 547 3.09e-134 SMART
low complexity region 615 633 N/A INTRINSIC
low complexity region 697 708 N/A INTRINSIC
low complexity region 760 778 N/A INTRINSIC
low complexity region 812 829 N/A INTRINSIC
low complexity region 1253 1264 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108060
SMART Domains Protein: ENSMUSP00000103695
Gene: ENSMUSG00000028437

DomainStartEndE-ValueType
coiled coil region 64 95 N/A INTRINSIC
low complexity region 333 348 N/A INTRINSIC
PDB:4AE4|B 362 441 2e-50 PDB
SCOP:d1exja1 394 437 1e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132235
SMART Domains Protein: ENSMUSP00000123491
Gene: ENSMUSG00000028437

DomainStartEndE-ValueType
SCOP:d1ifya_ 68 111 2e-11 SMART
PDB:4AE4|B 69 140 2e-44 PDB
Blast:UBA 73 109 7e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141951
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kinesins, such as KIF24, are microtubule-dependent ATPases that function as molecular motors. They play important roles in intracellular vesicle transport and cell division (summary by Venturelli et al., 2010 [PubMed 20670673]).[supplied by OMIM, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Apba2 T C 7: 64,745,826 probably benign Het
Asap2 A G 12: 21,254,306 D741G possibly damaging Het
Cfap65 T C 1: 74,927,194 T325A probably benign Het
Cyp2b23 A T 7: 26,679,490 V183E probably damaging Het
Cyp4f14 T A 17: 32,905,496 probably benign Het
Dip2b A G 15: 100,209,636 T1176A probably benign Het
Dnah1 A G 14: 31,263,378 I3852T probably benign Het
E430018J23Rik A G 7: 127,392,036 S260P possibly damaging Het
Exoc6 T A 19: 37,682,964 S801T probably damaging Het
Fancd2os T C 6: 113,597,654 I130M probably damaging Het
Flywch1 A G 17: 23,763,026 V68A probably benign Het
Limk2 C T 11: 3,358,990 probably null Het
Mag C T 7: 30,900,387 V576I probably benign Het
Mei4 C T 9: 81,890,182 A16V probably damaging Het
Ncoa7 A G 10: 30,662,334 I685T probably damaging Het
Nfxl1 A T 5: 72,540,934 V256E probably damaging Het
Olfr1015 A T 2: 85,786,143 I211F probably damaging Het
Olfr352 T A 2: 36,869,667 F34I probably benign Het
Olfr403 C T 11: 74,196,381 R293W probably benign Het
Pcdhb2 T C 18: 37,296,738 V588A probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pcdhb9 T A 18: 37,403,175 S741T probably damaging Het
Plekha4 C A 7: 45,534,343 S66R probably damaging Het
Prex2 A G 1: 11,266,054 N1492S probably benign Het
Rbfox3 T C 11: 118,513,289 H28R possibly damaging Het
Reep2 C T 18: 34,846,249 T209I probably benign Het
Rptn A G 3: 93,396,710 H450R possibly damaging Het
Spock3 A G 8: 63,355,350 D427G unknown Het
Tnfrsf1b C T 4: 145,215,923 C430Y probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Tubgcp3 T C 8: 12,641,094 probably benign Het
Upp2 A C 2: 58,790,046 T295P probably damaging Het
Xpo7 A G 14: 70,685,555 V528A probably damaging Het
Zc3h7a A G 16: 11,145,716 C714R probably damaging Het
Zpbp A T 11: 11,404,052 S295T probably benign Het
Other mutations in Kif24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Kif24 APN 4 41413826 splice site probably null
IGL00787:Kif24 APN 4 41397583 missense probably damaging 1.00
IGL01065:Kif24 APN 4 41423639 unclassified probably benign
IGL01796:Kif24 APN 4 41392978 unclassified probably benign
IGL02307:Kif24 APN 4 41395274 missense probably benign 0.02
IGL03061:Kif24 APN 4 41394323 missense possibly damaging 0.86
IGL03080:Kif24 APN 4 41394417 missense probably benign 0.12
IGL03100:Kif24 APN 4 41394446 missense possibly damaging 0.59
R0226:Kif24 UTSW 4 41414939 nonsense probably null
R0345:Kif24 UTSW 4 41428413 missense probably benign 0.01
R0365:Kif24 UTSW 4 41428731 missense probably benign 0.06
R0366:Kif24 UTSW 4 41428717 missense possibly damaging 0.77
R0579:Kif24 UTSW 4 41393706 missense probably damaging 0.97
R0682:Kif24 UTSW 4 41428620 missense probably benign 0.01
R1611:Kif24 UTSW 4 41423552 missense probably benign 0.02
R1634:Kif24 UTSW 4 41393529 missense probably benign 0.02
R1772:Kif24 UTSW 4 41409787 missense probably damaging 1.00
R1997:Kif24 UTSW 4 41392904 missense possibly damaging 0.92
R3833:Kif24 UTSW 4 41395064 missense probably damaging 1.00
R3849:Kif24 UTSW 4 41404734 missense probably damaging 1.00
R4356:Kif24 UTSW 4 41413827 critical splice donor site probably null
R4357:Kif24 UTSW 4 41413827 critical splice donor site probably null
R4358:Kif24 UTSW 4 41413827 critical splice donor site probably null
R4359:Kif24 UTSW 4 41413827 critical splice donor site probably null
R4406:Kif24 UTSW 4 41393954 missense probably damaging 1.00
R4580:Kif24 UTSW 4 41395287 missense probably damaging 1.00
R4756:Kif24 UTSW 4 41397545 critical splice donor site probably null
R4921:Kif24 UTSW 4 41394329 missense probably damaging 0.99
R4935:Kif24 UTSW 4 41394939 missense probably damaging 0.99
R5288:Kif24 UTSW 4 41395373 missense probably benign 0.09
R5398:Kif24 UTSW 4 41394401 missense possibly damaging 0.50
R5885:Kif24 UTSW 4 41423463 missense probably damaging 1.00
R5901:Kif24 UTSW 4 41428604 missense probably damaging 1.00
R5919:Kif24 UTSW 4 41394477 missense possibly damaging 0.62
R5945:Kif24 UTSW 4 41428670 nonsense probably null
R6278:Kif24 UTSW 4 41423498 missense probably damaging 1.00
R6291:Kif24 UTSW 4 41413959 missense probably damaging 1.00
R6891:Kif24 UTSW 4 41394168 missense probably benign 0.33
R7178:Kif24 UTSW 4 41395085 missense probably benign 0.00
R7437:Kif24 UTSW 4 41404687 missense possibly damaging 0.70
R7453:Kif24 UTSW 4 41394673 missense possibly damaging 0.91
R7543:Kif24 UTSW 4 41413993 nonsense probably null
R7548:Kif24 UTSW 4 41423601 missense possibly damaging 0.57
R8167:Kif24 UTSW 4 41392957 missense possibly damaging 0.87
R8305:Kif24 UTSW 4 41428825 missense probably damaging 1.00
R8407:Kif24 UTSW 4 41394488 missense probably benign 0.05
R8722:Kif24 UTSW 4 41394233 missense probably benign
R8916:Kif24 UTSW 4 41394963 missense probably benign 0.23
R9093:Kif24 UTSW 4 41428691 missense probably benign
R9172:Kif24 UTSW 4 41400442 missense probably benign 0.44
R9468:Kif24 UTSW 4 41404794 missense probably damaging 1.00
R9687:Kif24 UTSW 4 41428546 missense probably damaging 0.99
Z1088:Kif24 UTSW 4 41395091 missense probably damaging 0.99
Posted On 2014-01-21