Incidental Mutation 'R7644:Kif22'
ID 590423
Institutional Source Beutler Lab
Gene Symbol Kif22
Ensembl Gene ENSMUSG00000030677
Gene Name kinesin family member 22
Synonyms Kid, Kif22a
MMRRC Submission 045723-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7644 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126626901-126641639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126632134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 350 (T350I)
Ref Sequence ENSEMBL: ENSMUSP00000032915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032915] [ENSMUST00000205806]
AlphaFold Q3V300
Predicted Effect probably damaging
Transcript: ENSMUST00000032915
AA Change: T350I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032915
Gene: ENSMUSG00000030677
AA Change: T350I

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
Meta Mutation Damage Score 0.8968 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (86/86)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik C T 2: 30,687,966 (GRCm39) R209Q possibly damaging Het
Abl2 A G 1: 156,443,563 (GRCm39) D24G probably benign Het
Adar C T 3: 89,652,826 (GRCm39) A754V probably benign Het
Adcy8 C T 15: 64,571,218 (GRCm39) V1172I possibly damaging Het
Adgrl2 C T 3: 148,544,789 (GRCm39) V769M probably damaging Het
Akna T A 4: 63,313,634 (GRCm39) Q163L possibly damaging Het
Alox15 C T 11: 70,236,368 (GRCm39) A511T probably null Het
Ano8 C T 8: 71,937,474 (GRCm39) G90D probably damaging Het
Aqp5 G A 15: 99,492,107 (GRCm39) R235H probably damaging Het
B3galt4 A T 17: 34,169,419 (GRCm39) V273E probably damaging Het
Ccdc125 C T 13: 100,814,884 (GRCm39) probably null Het
Ccdc90b A G 7: 92,216,868 (GRCm39) R47G possibly damaging Het
Celsr2 G T 3: 108,320,806 (GRCm39) L669I probably damaging Het
Clasp1 T G 1: 118,440,480 (GRCm39) probably null Het
Clec4a2 C T 6: 123,101,974 (GRCm39) P43L probably benign Het
Cntn1 T C 15: 92,207,890 (GRCm39) I827T probably benign Het
Col9a1 G T 1: 24,224,243 (GRCm39) V142F unknown Het
Cplane1 T A 15: 8,252,611 (GRCm39) D1944E probably benign Het
Cts7 G T 13: 61,504,782 (GRCm39) Y23* probably null Het
Dcdc2a T A 13: 25,291,674 (GRCm39) Y220N probably damaging Het
Dennd2b A T 7: 109,156,000 (GRCm39) L250* probably null Het
Dmxl1 T G 18: 50,026,619 (GRCm39) V1909G probably benign Het
Ehd2 G A 7: 15,691,474 (GRCm39) P286L possibly damaging Het
Elf3 G T 1: 135,184,244 (GRCm39) A208E possibly damaging Het
Eml5 A G 12: 98,822,203 (GRCm39) I775T probably benign Het
Ephb1 T C 9: 101,813,393 (GRCm39) T791A probably damaging Het
Fanci C A 7: 79,094,219 (GRCm39) S1105* probably null Het
Fastkd1 T A 2: 69,527,184 (GRCm39) probably null Het
Fat4 A G 3: 39,064,390 (GRCm39) E4782G possibly damaging Het
Fnta T C 8: 26,503,516 (GRCm39) I90V probably damaging Het
Fosl1 C T 19: 5,500,332 (GRCm39) R84* probably null Het
Gdf2 T C 14: 33,666,847 (GRCm39) F190L probably benign Het
Gzmn T A 14: 56,404,776 (GRCm39) Q88L probably damaging Het
Hat1 T A 2: 71,240,525 (GRCm39) L73Q probably damaging Het
Hdhd2 G A 18: 77,031,871 (GRCm39) G109E possibly damaging Het
Il22ra1 A G 4: 135,460,346 (GRCm39) N34S probably damaging Het
Ino80d T C 1: 63,097,930 (GRCm39) T760A probably benign Het
Itga7 A G 10: 128,789,370 (GRCm39) D971G probably benign Het
Kdm6b T C 11: 69,291,032 (GRCm39) N1574S unknown Het
Kel T C 6: 41,667,742 (GRCm39) E400G probably benign Het
Kif26b A G 1: 178,506,839 (GRCm39) N305S probably benign Het
Klk12 A C 7: 43,419,134 (GRCm39) Q33P probably damaging Het
Klk1b24 G A 7: 43,841,304 (GRCm39) probably null Het
Krtap31-1 T A 11: 99,799,048 (GRCm39) C84S possibly damaging Het
Ky T A 9: 102,414,972 (GRCm39) S295T probably benign Het
Lpin3 T A 2: 160,738,690 (GRCm39) M214K probably benign Het
Mak T A 13: 41,183,586 (GRCm39) N565Y probably benign Het
Mphosph6 T C 8: 118,528,623 (GRCm39) T7A probably benign Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myh11 T C 16: 14,039,688 (GRCm39) T814A Het
Nmbr T C 10: 14,636,433 (GRCm39) L134P probably damaging Het
Nup107 C T 10: 117,606,375 (GRCm39) V456M probably damaging Het
Or56b1b A G 7: 108,164,649 (GRCm39) S118P possibly damaging Het
Or8g22 C A 9: 38,958,638 (GRCm39) D26Y probably damaging Het
Pink1 A T 4: 138,044,683 (GRCm39) H351Q probably damaging Het
Piwil4 A T 9: 14,645,711 (GRCm39) probably null Het
Pkd1l1 C A 11: 8,825,758 (GRCm39) V1498F Het
Polb A G 8: 23,130,443 (GRCm39) I161T probably benign Het
Polg A T 7: 79,101,416 (GRCm39) L1097Q probably damaging Het
Prelp T C 1: 133,842,356 (GRCm39) N263S probably benign Het
Pten T C 19: 32,789,234 (GRCm39) C211R probably damaging Het
Ptprc G A 1: 137,995,645 (GRCm39) A1012V probably benign Het
Ptprr T A 10: 115,884,133 (GRCm39) H63Q probably benign Het
Rapsn A T 2: 90,872,299 (GRCm39) H211L possibly damaging Het
Reln T C 5: 22,183,929 (GRCm39) N1690S probably benign Het
Rpap2 A G 5: 107,768,167 (GRCm39) E335G probably benign Het
Rspry1 T A 8: 95,385,396 (GRCm39) S567T probably benign Het
Sf3b1 G A 1: 55,036,302 (GRCm39) R924* probably null Het
Sftpb G A 6: 72,286,818 (GRCm39) E241K probably benign Het
Smarca4 G T 9: 21,566,950 (GRCm39) A677S probably benign Het
Srrm2 G A 17: 24,038,294 (GRCm39) R1646Q unknown Het
Tex15 T A 8: 34,064,445 (GRCm39) C1292S probably benign Het
Tmem140 A G 6: 34,849,708 (GRCm39) I75V probably benign Het
Trhr2 T A 8: 123,084,061 (GRCm39) Q313L possibly damaging Het
Trim35 A G 14: 66,534,546 (GRCm39) T10A unknown Het
Ttn T C 2: 76,750,124 (GRCm39) I3642V probably benign Het
Ugt1a2 T C 1: 88,128,507 (GRCm39) L50P probably damaging Het
Unc13a C A 8: 72,087,182 (GRCm39) V1522L probably benign Het
Usp33 A G 3: 152,063,589 (GRCm39) D21G possibly damaging Het
Vmn1r90 G A 7: 14,295,616 (GRCm39) Q161* probably null Het
Vmn2r117 A T 17: 23,696,265 (GRCm39) W381R probably damaging Het
Vmn2r16 G C 5: 109,487,837 (GRCm39) A237P probably damaging Het
Vmn2r74 A G 7: 85,606,746 (GRCm39) V200A probably benign Het
Yjefn3 C T 8: 70,340,544 (GRCm39) V227M probably damaging Het
Zfp652 T C 11: 95,640,914 (GRCm39) F280L probably damaging Het
Zfp748 G A 13: 67,689,568 (GRCm39) T564I probably damaging 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
R5853:Kif22 UTSW 7 126,632,539 (GRCm39) missense possibly damaging 0.92
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
R8143:Kif22 UTSW 7 126,632,397 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAATCAGAGTGGTCAGCTTC -3'
(R):5'- ACAGCAAGCTCACTCGTCTG -3'

Sequencing Primer
(F):5'- GAATCAGAGTGGTCAGCTTCAGTATC -3'
(R):5'- GCAGGTCATGTCTACCCATG -3'
Posted On 2019-10-24