Incidental Mutation 'R5540:Kif20b'
ID 435936
Institutional Source Beutler Lab
Gene Symbol Kif20b
Ensembl Gene ENSMUSG00000024795
Gene Name kinesin family member 20B
Synonyms C330014J10Rik, magoo, Kif20b, N-6 kinesin, Mphosph1, 33cex
MMRRC Submission 043098-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R5540 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 34899761-34953145 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34915860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 546 (M546L)
Ref Sequence ENSEMBL: ENSMUSP00000153034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223907] [ENSMUST00000225408]
AlphaFold Q80WE4
Predicted Effect probably benign
Transcript: ENSMUST00000087341
AA Change: M546L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: M546L

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: ENSMUST00000223907
AA Change: M546L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000224728
Predicted Effect probably benign
Transcript: ENSMUST00000225408
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,012,371 (GRCm39) S15P probably damaging Het
Actl7a A T 4: 56,744,388 (GRCm39) H305L probably benign Het
Adam26b C A 8: 43,974,654 (GRCm39) C116F probably damaging Het
Adgrl2 A G 3: 148,543,198 (GRCm39) probably null Het
Akr1b10 A G 6: 34,371,047 (GRCm39) T238A probably damaging Het
Akr1c18 A G 13: 4,187,178 (GRCm39) V186A probably benign Het
Alpk3 G A 7: 80,745,184 (GRCm39) V1311M probably damaging Het
Aox1 A G 1: 58,143,569 (GRCm39) N1229S probably benign Het
Apobec3 T A 15: 79,782,120 (GRCm39) N43K probably benign Het
Arid1a A C 4: 133,407,765 (GRCm39) D2247E unknown Het
Asph A G 4: 9,635,906 (GRCm39) L77S probably damaging Het
Cd300ld T A 11: 114,878,231 (GRCm39) T94S probably damaging Het
Celf2 T C 2: 6,558,743 (GRCm39) T382A probably benign Het
Cfap54 C T 10: 92,808,470 (GRCm39) A1402T possibly damaging Het
Chrnb1 A T 11: 69,686,476 (GRCm39) V48E probably benign Het
Col6a5 T A 9: 105,739,975 (GRCm39) E2548V probably benign Het
Crebrf A G 17: 26,961,071 (GRCm39) D56G possibly damaging Het
Dctn5 A G 7: 121,734,275 (GRCm39) T40A probably benign Het
Dmxl2 A T 9: 54,301,141 (GRCm39) N2323K probably benign Het
Dync1h1 A G 12: 110,627,384 (GRCm39) Q4021R probably benign Het
Dyrk1a T G 16: 94,486,202 (GRCm39) probably null Het
Ephb3 T A 16: 21,039,610 (GRCm39) F454Y probably damaging Het
Fbxo38 A G 18: 62,647,864 (GRCm39) probably null Het
Flg T C 3: 93,184,923 (GRCm39) F15S probably damaging Het
Fndc3b G A 3: 27,555,651 (GRCm39) P301L probably damaging Het
Fpr-rs7 C T 17: 20,334,356 (GRCm39) G45R probably damaging Het
Garin3 A G 11: 46,295,715 (GRCm39) N29S probably damaging Het
Gfi1 T A 5: 107,867,991 (GRCm39) T360S probably damaging Het
Grik4 T C 9: 42,432,243 (GRCm39) H918R probably damaging Het
Hpx A G 7: 105,241,119 (GRCm39) S385P possibly damaging Het
Kdm5b A G 1: 134,558,979 (GRCm39) D1501G probably damaging Het
Map3k9 G T 12: 81,819,587 (GRCm39) N222K probably damaging Het
Me1 A G 9: 86,561,926 (GRCm39) L53P possibly damaging Het
Mis18bp1 T C 12: 65,195,520 (GRCm39) E748G possibly damaging Het
Morc3 T A 16: 93,644,268 (GRCm39) N186K probably benign Het
Mtor A G 4: 148,539,165 (GRCm39) T221A probably benign Het
Muc6 A G 7: 141,235,850 (GRCm39) probably null Het
Myh8 C A 11: 67,177,266 (GRCm39) T444N probably benign Het
Myo7b A G 18: 32,140,143 (GRCm39) Y216H probably damaging Het
Myom1 G A 17: 71,416,782 (GRCm39) V1382M probably damaging Het
Nbeal2 A T 9: 110,460,801 (GRCm39) Y1718N probably damaging Het
Npc1l1 A G 11: 6,164,546 (GRCm39) S1168P probably damaging Het
Or4c58 A G 2: 89,675,011 (GRCm39) F102S probably damaging Het
Or4d2 T A 11: 87,784,511 (GRCm39) K80* probably null Het
Or51f5 C T 7: 102,424,136 (GRCm39) A135V probably benign Het
Or5an9 T A 19: 12,187,824 (GRCm39) I298N probably damaging Het
Or6c8b G T 10: 128,882,364 (GRCm39) D189E probably damaging Het
Pcdha4 C A 18: 37,087,890 (GRCm39) A691E probably benign Het
Pde6a T G 18: 61,364,438 (GRCm39) F165V probably damaging Het
Ptpn14 A T 1: 189,578,561 (GRCm39) M340L probably benign Het
Rnasel G T 1: 153,630,890 (GRCm39) E469* probably null Het
Rsph3a T G 17: 8,164,790 (GRCm39) L50R probably benign Het
Rusc2 A G 4: 43,423,975 (GRCm39) Y1043C probably damaging Het
Serpinb6b A T 13: 33,161,541 (GRCm39) K86* probably null Het
Serpine1 T C 5: 137,092,063 (GRCm39) T392A probably benign Het
Shcbp1 A T 8: 4,794,529 (GRCm39) D421E probably damaging Het
Slc24a1 A G 9: 64,855,863 (GRCm39) V348A unknown Het
Slc26a7 A G 4: 14,506,621 (GRCm39) F605L probably benign Het
Slc66a1 A T 4: 139,027,655 (GRCm39) L229Q probably damaging Het
Spag17 A C 3: 99,963,588 (GRCm39) E1102A possibly damaging Het
Stab2 A G 10: 86,683,989 (GRCm39) V2390A probably benign Het
Stk11 A G 10: 79,961,883 (GRCm39) I35V probably benign Het
Stk24 T C 14: 121,531,693 (GRCm39) D321G possibly damaging Het
Tbx4 A T 11: 85,801,994 (GRCm39) N209I possibly damaging Het
Tmem225 T C 9: 40,060,681 (GRCm39) L80P probably damaging Het
Tnfrsf4 C T 4: 156,098,380 (GRCm39) T17I probably benign Het
Traf3ip1 G A 1: 91,429,037 (GRCm39) R268Q probably benign Het
Trhde T A 10: 114,636,497 (GRCm39) I237F probably benign Het
Ugt2a1 A T 5: 87,633,915 (GRCm39) W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,726,831 (GRCm39) probably benign Het
Vps16 T A 2: 130,284,305 (GRCm39) D685E probably benign Het
Washc4 A G 10: 83,409,657 (GRCm39) D602G probably damaging Het
Wdr59 A G 8: 112,211,816 (GRCm39) L377P possibly damaging Het
Wdr81 T C 11: 75,339,896 (GRCm39) E1364G probably damaging Het
Other mutations in Kif20b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Kif20b APN 19 34,925,060 (GRCm39) missense possibly damaging 0.77
IGL01021:Kif20b APN 19 34,915,660 (GRCm39) missense possibly damaging 0.89
IGL01590:Kif20b APN 19 34,932,126 (GRCm39) missense possibly damaging 0.87
IGL01691:Kif20b APN 19 34,913,143 (GRCm39) splice site probably benign
IGL01730:Kif20b APN 19 34,927,923 (GRCm39) nonsense probably null
IGL02078:Kif20b APN 19 34,913,044 (GRCm39) missense probably damaging 1.00
IGL02174:Kif20b APN 19 34,911,858 (GRCm39) splice site probably benign
IGL02536:Kif20b APN 19 34,951,959 (GRCm39) missense probably benign 0.42
IGL03029:Kif20b APN 19 34,928,313 (GRCm39) missense probably benign
IGL03186:Kif20b APN 19 34,912,344 (GRCm39) missense probably benign 0.45
IGL03205:Kif20b APN 19 34,936,863 (GRCm39) missense probably damaging 1.00
IGL03493:Kif20b APN 19 34,936,950 (GRCm39) nonsense probably null
R0319:Kif20b UTSW 19 34,925,132 (GRCm39) splice site probably benign
R1069:Kif20b UTSW 19 34,928,251 (GRCm39) missense probably damaging 1.00
R1137:Kif20b UTSW 19 34,914,486 (GRCm39) critical splice donor site probably null
R1255:Kif20b UTSW 19 34,927,506 (GRCm39) missense probably benign 0.08
R1352:Kif20b UTSW 19 34,902,035 (GRCm39) missense probably benign
R1466:Kif20b UTSW 19 34,927,999 (GRCm39) missense probably benign 0.00
R1466:Kif20b UTSW 19 34,927,999 (GRCm39) missense probably benign 0.00
R1473:Kif20b UTSW 19 34,951,896 (GRCm39) missense possibly damaging 0.93
R1545:Kif20b UTSW 19 34,906,318 (GRCm39) missense probably damaging 1.00
R1647:Kif20b UTSW 19 34,914,190 (GRCm39) missense possibly damaging 0.65
R1648:Kif20b UTSW 19 34,914,190 (GRCm39) missense possibly damaging 0.65
R1752:Kif20b UTSW 19 34,915,736 (GRCm39) missense probably benign 0.13
R1835:Kif20b UTSW 19 34,933,438 (GRCm39) missense probably damaging 1.00
R1889:Kif20b UTSW 19 34,918,608 (GRCm39) unclassified probably benign
R1937:Kif20b UTSW 19 34,930,278 (GRCm39) missense possibly damaging 0.73
R2112:Kif20b UTSW 19 34,909,132 (GRCm39) missense probably benign 0.04
R2315:Kif20b UTSW 19 34,908,999 (GRCm39) missense probably damaging 1.00
R2385:Kif20b UTSW 19 34,936,819 (GRCm39) missense probably damaging 0.98
R2867:Kif20b UTSW 19 34,917,528 (GRCm39) missense probably damaging 1.00
R2867:Kif20b UTSW 19 34,917,528 (GRCm39) missense probably damaging 1.00
R3086:Kif20b UTSW 19 34,907,115 (GRCm39) missense probably damaging 1.00
R3116:Kif20b UTSW 19 34,947,480 (GRCm39) missense probably benign 0.38
R3407:Kif20b UTSW 19 34,927,900 (GRCm39) missense probably damaging 1.00
R3834:Kif20b UTSW 19 34,912,428 (GRCm39) missense probably damaging 1.00
R3882:Kif20b UTSW 19 34,927,480 (GRCm39) missense probably damaging 1.00
R4698:Kif20b UTSW 19 34,928,944 (GRCm39) missense probably damaging 1.00
R4721:Kif20b UTSW 19 34,915,773 (GRCm39) missense probably benign 0.41
R4883:Kif20b UTSW 19 34,943,522 (GRCm39) missense probably benign 0.00
R4901:Kif20b UTSW 19 34,911,836 (GRCm39) missense probably benign 0.00
R4923:Kif20b UTSW 19 34,918,611 (GRCm39) critical splice acceptor site probably null
R5538:Kif20b UTSW 19 34,930,364 (GRCm39) nonsense probably null
R5558:Kif20b UTSW 19 34,928,949 (GRCm39) missense probably damaging 1.00
R5580:Kif20b UTSW 19 34,927,128 (GRCm39) splice site probably null
R5934:Kif20b UTSW 19 34,918,721 (GRCm39) missense probably benign 0.02
R6019:Kif20b UTSW 19 34,927,864 (GRCm39) missense probably benign 0.00
R6464:Kif20b UTSW 19 34,911,841 (GRCm39) missense probably benign
R6613:Kif20b UTSW 19 34,914,384 (GRCm39) nonsense probably null
R6745:Kif20b UTSW 19 34,906,276 (GRCm39) missense possibly damaging 0.94
R7097:Kif20b UTSW 19 34,951,892 (GRCm39) missense probably damaging 0.98
R7237:Kif20b UTSW 19 34,928,005 (GRCm39) missense probably damaging 1.00
R7260:Kif20b UTSW 19 34,927,610 (GRCm39) missense probably damaging 1.00
R7373:Kif20b UTSW 19 34,913,071 (GRCm39) missense probably damaging 1.00
R7418:Kif20b UTSW 19 34,907,087 (GRCm39) missense probably damaging 0.99
R7814:Kif20b UTSW 19 34,928,355 (GRCm39) missense possibly damaging 0.63
R7861:Kif20b UTSW 19 34,917,322 (GRCm39) missense probably damaging 1.00
R8017:Kif20b UTSW 19 34,917,279 (GRCm39) missense probably damaging 1.00
R8696:Kif20b UTSW 19 34,914,752 (GRCm39) missense probably benign 0.02
R8724:Kif20b UTSW 19 34,916,146 (GRCm39) unclassified probably benign
R8849:Kif20b UTSW 19 34,915,716 (GRCm39) nonsense probably null
R8947:Kif20b UTSW 19 34,918,629 (GRCm39) missense possibly damaging 0.46
R8998:Kif20b UTSW 19 34,914,253 (GRCm39) splice site probably benign
R9017:Kif20b UTSW 19 34,927,203 (GRCm39) missense probably benign 0.00
R9245:Kif20b UTSW 19 34,915,725 (GRCm39) missense probably benign 0.02
R9613:Kif20b UTSW 19 34,919,934 (GRCm39) missense possibly damaging 0.80
R9619:Kif20b UTSW 19 34,933,429 (GRCm39) missense probably damaging 1.00
R9732:Kif20b UTSW 19 34,930,353 (GRCm39) missense probably benign 0.18
R9746:Kif20b UTSW 19 34,928,149 (GRCm39) nonsense probably null
Z1088:Kif20b UTSW 19 34,927,851 (GRCm39) missense probably damaging 0.99
Z1176:Kif20b UTSW 19 34,930,275 (GRCm39) missense probably benign 0.11
Z1177:Kif20b UTSW 19 34,927,866 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCGGATACTTTAAGTTCTTCTCAAG -3'
(R):5'- CCTGACATTGACCTCTGACC -3'

Sequencing Primer
(F):5'- GTTCTTCTCAAGAGAAATCTTTTGC -3'
(R):5'- GACATTGACCTCTGACCTCTACATG -3'
Posted On 2016-10-24