Incidental Mutation 'R5853:Kif22'
ID 454764
Institutional Source Beutler Lab
Gene Symbol Kif22
Ensembl Gene ENSMUSG00000030677
Gene Name kinesin family member 22
Synonyms Kid, Kif22a
MMRRC Submission 044068-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5853 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126626901-126641639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126632539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 257 (P257Q)
Ref Sequence ENSEMBL: ENSMUSP00000032915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032915] [ENSMUST00000205806]
AlphaFold Q3V300
Predicted Effect possibly damaging
Transcript: ENSMUST00000032915
AA Change: P257Q

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032915
Gene: ENSMUSG00000030677
AA Change: P257Q

DomainStartEndE-ValueType
KISc 36 371 1.12e-140 SMART
low complexity region 399 428 N/A INTRINSIC
coiled coil region 460 496 N/A INTRINSIC
HhH1 597 616 2.16e0 SMART
HhH1 627 646 8.65e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205754
Predicted Effect probably benign
Transcript: ENSMUST00000205806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206924
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality prior to implantation due to defective meiosis II and early embryo mitosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G A 7: 119,939,806 (GRCm39) V303I probably benign Het
Abca4 G T 3: 121,897,180 (GRCm39) V620L probably benign Het
Ankk1 A T 9: 49,329,995 (GRCm39) V320E possibly damaging Het
Aoah G T 13: 21,184,072 (GRCm39) A379S probably benign Het
Apol7e A G 15: 77,598,667 (GRCm39) D44G probably benign Het
Atf2 T C 2: 73,658,813 (GRCm39) probably null Het
Cd209b T C 8: 3,976,549 (GRCm39) probably null Het
Chek1 G A 9: 36,624,983 (GRCm39) S366L probably damaging Het
Chpf2 T C 5: 24,797,190 (GRCm39) L712P probably damaging Het
Clmn C A 12: 104,750,161 (GRCm39) probably null Het
Cnksr3 T C 10: 7,092,977 (GRCm39) D178G probably benign Het
Cpox T C 16: 58,495,780 (GRCm39) Y366H probably damaging Het
Dnah3 A G 7: 119,538,056 (GRCm39) F3632S probably damaging Het
Eif5b T A 1: 38,076,388 (GRCm39) D645E probably damaging Het
Emilin1 G A 5: 31,075,966 (GRCm39) E736K probably damaging Het
Gcnt4 G A 13: 97,083,160 (GRCm39) R152Q probably benign Het
Il6st T C 13: 112,618,071 (GRCm39) S162P probably damaging Het
Iqub T C 6: 24,491,601 (GRCm39) K362E probably benign Het
Lhx2 T C 2: 38,259,053 (GRCm39) V378A probably damaging Het
Lipo3 A G 19: 33,759,630 (GRCm39) V202A probably benign Het
Lrp1b T A 2: 40,553,738 (GRCm39) N366I unknown Het
Mbip T C 12: 56,382,662 (GRCm39) D268G probably damaging Het
Mc5r A G 18: 68,472,564 (GRCm39) M308V probably benign Het
Mndal C A 1: 173,690,070 (GRCm39) G420V probably damaging Het
Nbea A T 3: 55,899,822 (GRCm39) N1442K probably damaging Het
Ndufv1 A T 19: 4,058,811 (GRCm39) probably null Het
Ofcc1 A G 13: 40,360,193 (GRCm39) S279P probably benign Het
Or4k2 A T 14: 50,424,326 (GRCm39) M116K possibly damaging Het
Or6b2b T C 1: 92,419,439 (GRCm39) I13V probably benign Het
Pabpc1l A T 2: 163,891,438 (GRCm39) H552L probably benign Het
Pigr T A 1: 130,774,341 (GRCm39) C440* probably null Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Prss30 C T 17: 24,191,820 (GRCm39) V271I probably damaging Het
Psme4 T A 11: 30,741,234 (GRCm39) probably null Het
Qrich1 T A 9: 108,410,807 (GRCm39) probably benign Het
Rem1 C G 2: 152,470,200 (GRCm39) A62G possibly damaging Het
Rftn1 T C 17: 50,354,354 (GRCm39) N58S probably damaging Het
Rp9 G A 9: 22,360,065 (GRCm39) probably benign Het
Rrp1b G A 17: 32,275,658 (GRCm39) V402I possibly damaging Het
Slc25a33 A T 4: 149,838,349 (GRCm39) Y108N probably benign Het
Slc3a1 A G 17: 85,340,008 (GRCm39) M189V probably damaging Het
Slc44a1 A C 4: 53,528,682 (GRCm39) K144T probably benign Het
Tbc1d13 T A 2: 30,027,393 (GRCm39) H100Q probably damaging Het
Timm29 T C 9: 21,504,749 (GRCm39) V139A probably damaging Het
Tmem70 T C 1: 16,735,556 (GRCm39) W9R possibly damaging Het
Tspan1 A G 4: 116,020,502 (GRCm39) probably null Het
Unc13a T C 8: 72,107,773 (GRCm39) probably null Het
Uroc1 T C 6: 90,323,738 (GRCm39) F395S probably damaging Het
Uvrag A C 7: 98,537,284 (GRCm39) L637R possibly damaging Het
Vmn1r213 T G 13: 23,195,684 (GRCm39) L3W probably benign Het
Zfp280d C T 9: 72,238,224 (GRCm39) T528I probably benign Het
Zfp526 C T 7: 24,924,601 (GRCm39) Q287* probably null Het
Other mutations in Kif22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Kif22 APN 7 126,632,645 (GRCm39) missense probably damaging 0.96
IGL01333:Kif22 APN 7 126,633,367 (GRCm39) missense probably damaging 1.00
R0207:Kif22 UTSW 7 126,641,572 (GRCm39) start codon destroyed probably null 0.73
R0723:Kif22 UTSW 7 126,633,078 (GRCm39) missense probably damaging 1.00
R1118:Kif22 UTSW 7 126,631,916 (GRCm39) missense probably benign
R1521:Kif22 UTSW 7 126,627,011 (GRCm39) missense probably damaging 0.99
R2036:Kif22 UTSW 7 126,630,126 (GRCm39) missense possibly damaging 0.94
R2092:Kif22 UTSW 7 126,632,802 (GRCm39) missense probably damaging 0.99
R3790:Kif22 UTSW 7 126,628,668 (GRCm39) missense probably damaging 1.00
R4587:Kif22 UTSW 7 126,632,052 (GRCm39) critical splice donor site probably null
R4667:Kif22 UTSW 7 126,632,500 (GRCm39) missense probably damaging 1.00
R5082:Kif22 UTSW 7 126,632,549 (GRCm39) missense possibly damaging 0.71
R6045:Kif22 UTSW 7 126,630,250 (GRCm39) missense probably benign 0.00
R6175:Kif22 UTSW 7 126,630,228 (GRCm39) missense possibly damaging 0.53
R6195:Kif22 UTSW 7 126,628,131 (GRCm39) missense probably damaging 0.99
R6407:Kif22 UTSW 7 126,632,375 (GRCm39) missense probably damaging 1.00
R6416:Kif22 UTSW 7 126,628,104 (GRCm39) missense possibly damaging 0.95
R6561:Kif22 UTSW 7 126,630,225 (GRCm39) missense probably benign 0.38
R7122:Kif22 UTSW 7 126,632,150 (GRCm39) missense probably benign 0.01
R7644:Kif22 UTSW 7 126,632,134 (GRCm39) missense probably damaging 1.00
R8143:Kif22 UTSW 7 126,632,397 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGGTAGACATGACCTGCAG -3'
(R):5'- CAGCCAGTAGAAATCGAGCTG -3'

Sequencing Primer
(F):5'- CAGACGAGTGAGCTTGCTGTC -3'
(R):5'- CCAGTAGAAATCGAGCTGTAGGAG -3'
Posted On 2017-02-10