Incidental Mutation 'IGL03186:Kif20b'
ID412458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif20b
Ensembl Gene ENSMUSG00000024795
Gene Namekinesin family member 20B
SynonymsKif20b, Mphosph1, N-6 kinesin
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.624) question?
Stock #IGL03186
Quality Score
Status
Chromosome19
Chromosomal Location34922361-34975745 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34934944 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 250 (E250V)
Ref Sequence ENSEMBL: ENSMUSP00000153034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223776] [ENSMUST00000223907] [ENSMUST00000225408]
Predicted Effect probably benign
Transcript: ENSMUST00000087341
AA Change: E250V

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: E250V

DomainStartEndE-ValueType
Blast:KISc 2 46 5e-15 BLAST
KISc 56 483 1.19e-103 SMART
low complexity region 521 551 N/A INTRINSIC
coiled coil region 565 602 N/A INTRINSIC
coiled coil region 705 746 N/A INTRINSIC
coiled coil region 823 947 N/A INTRINSIC
coiled coil region 1020 1325 N/A INTRINSIC
coiled coil region 1348 1510 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223776
Predicted Effect probably benign
Transcript: ENSMUST00000223907
AA Change: E250V

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224603
Predicted Effect probably benign
Transcript: ENSMUST00000224728
Predicted Effect probably benign
Transcript: ENSMUST00000225408
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,433,618 I4769T possibly damaging Het
Ankrd53 T C 6: 83,763,713 I106T probably benign Het
Arsi A G 18: 60,917,473 D476G probably damaging Het
Atp2c1 T C 9: 105,413,130 K760E probably benign Het
C030048H21Rik A G 2: 26,253,338 probably null Het
Cep152 A G 2: 125,563,975 S1546P probably benign Het
Clock T C 5: 76,243,082 H291R probably damaging Het
Fkbp4 T C 6: 128,434,800 T109A probably benign Het
Igkv1-117 T C 6: 68,121,799 Y111H probably damaging Het
Mef2c A G 13: 83,652,868 N229S probably benign Het
Ndufa9 A G 6: 126,844,892 V36A possibly damaging Het
Neb T C 2: 52,210,659 probably benign Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Neurl1a T A 19: 47,240,477 F152Y probably damaging Het
Nlrp14 G T 7: 107,186,670 C651F probably damaging Het
Odf3l1 T G 9: 56,849,072 N220T probably benign Het
Olfr1239 T A 2: 89,417,844 T190S probably damaging Het
Olfr202 A T 16: 59,283,903 V198E probably damaging Het
Olfr836 T A 9: 19,121,904 D316E probably benign Het
Pex2 C A 3: 5,561,717 A11S probably benign Het
Pitpna C A 11: 75,612,250 H137N probably benign Het
Pole T G 5: 110,299,920 probably null Het
Rft1 T A 14: 30,658,349 I35N possibly damaging Het
Serpina1e T C 12: 103,949,203 H248R probably benign Het
Sgsm1 C T 5: 113,285,021 A254T probably benign Het
St3gal3 G A 4: 117,940,054 P331S possibly damaging Het
Ttn T A 2: 76,771,762 K16773* probably null Het
Zfp687 T C 3: 95,011,094 T456A probably benign Het
Zranb1 A G 7: 132,950,203 I220M possibly damaging Het
Other mutations in Kif20b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Kif20b APN 19 34947660 missense possibly damaging 0.77
IGL01021:Kif20b APN 19 34938260 missense possibly damaging 0.89
IGL01590:Kif20b APN 19 34954726 missense possibly damaging 0.87
IGL01691:Kif20b APN 19 34935743 splice site probably benign
IGL01730:Kif20b APN 19 34950523 nonsense probably null
IGL02078:Kif20b APN 19 34935644 missense probably damaging 1.00
IGL02174:Kif20b APN 19 34934458 splice site probably benign
IGL02536:Kif20b APN 19 34974559 missense probably benign 0.42
IGL03029:Kif20b APN 19 34950913 missense probably benign
IGL03205:Kif20b APN 19 34959463 missense probably damaging 1.00
IGL03493:Kif20b APN 19 34959550 nonsense probably null
R0319:Kif20b UTSW 19 34947732 splice site probably benign
R1069:Kif20b UTSW 19 34950851 missense probably damaging 1.00
R1137:Kif20b UTSW 19 34937086 critical splice donor site probably null
R1255:Kif20b UTSW 19 34950106 missense probably benign 0.08
R1352:Kif20b UTSW 19 34924635 missense probably benign
R1466:Kif20b UTSW 19 34950599 missense probably benign 0.00
R1466:Kif20b UTSW 19 34950599 missense probably benign 0.00
R1473:Kif20b UTSW 19 34974496 missense possibly damaging 0.93
R1545:Kif20b UTSW 19 34928918 missense probably damaging 1.00
R1647:Kif20b UTSW 19 34936790 missense possibly damaging 0.65
R1648:Kif20b UTSW 19 34936790 missense possibly damaging 0.65
R1752:Kif20b UTSW 19 34938336 missense probably benign 0.13
R1835:Kif20b UTSW 19 34956038 missense probably damaging 1.00
R1889:Kif20b UTSW 19 34941208 unclassified probably benign
R1937:Kif20b UTSW 19 34952878 missense possibly damaging 0.73
R2112:Kif20b UTSW 19 34931732 missense probably benign 0.04
R2315:Kif20b UTSW 19 34931599 missense probably damaging 1.00
R2385:Kif20b UTSW 19 34959419 missense probably damaging 0.98
R2867:Kif20b UTSW 19 34940128 missense probably damaging 1.00
R2867:Kif20b UTSW 19 34940128 missense probably damaging 1.00
R3086:Kif20b UTSW 19 34929715 missense probably damaging 1.00
R3116:Kif20b UTSW 19 34970080 missense probably benign 0.38
R3407:Kif20b UTSW 19 34950500 missense probably damaging 1.00
R3834:Kif20b UTSW 19 34935028 missense probably damaging 1.00
R3882:Kif20b UTSW 19 34950080 missense probably damaging 1.00
R4698:Kif20b UTSW 19 34951544 missense probably damaging 1.00
R4721:Kif20b UTSW 19 34938373 missense probably benign 0.41
R4883:Kif20b UTSW 19 34966122 missense probably benign 0.00
R4901:Kif20b UTSW 19 34934436 missense probably benign 0.00
R4923:Kif20b UTSW 19 34941211 critical splice acceptor site probably null
R5538:Kif20b UTSW 19 34952964 nonsense probably null
R5540:Kif20b UTSW 19 34938460 missense probably benign 0.01
R5558:Kif20b UTSW 19 34951549 missense probably damaging 1.00
R5580:Kif20b UTSW 19 34949728 splice site probably null
R5934:Kif20b UTSW 19 34941321 missense probably benign 0.02
R6019:Kif20b UTSW 19 34950464 missense probably benign 0.00
R6464:Kif20b UTSW 19 34934441 missense probably benign
R6613:Kif20b UTSW 19 34936984 nonsense probably null
R6745:Kif20b UTSW 19 34928876 missense possibly damaging 0.94
R7097:Kif20b UTSW 19 34974492 missense probably damaging 0.98
Z1088:Kif20b UTSW 19 34950451 missense probably damaging 0.99
Posted On2016-08-02