Incidental Mutation 'R4762:Knl1'
ID 356929
Institutional Source Beutler Lab
Gene Symbol Knl1
Ensembl Gene ENSMUSG00000027326
Gene Name kinetochore scaffold 1
Synonyms Casc5, 2310043D08Rik, 5730505K17Rik
MMRRC Submission 042403-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4762 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 118877600-118935982 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118902417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1373 (S1373P)
Ref Sequence ENSEMBL: ENSMUSP00000028799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028799] [ENSMUST00000028802] [ENSMUST00000099542] [ENSMUST00000152380]
AlphaFold Q66JQ7
Predicted Effect probably benign
Transcript: ENSMUST00000028799
AA Change: S1373P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000028799
Gene: ENSMUSG00000027326
AA Change: S1373P

DomainStartEndE-ValueType
low complexity region 49 58 N/A INTRINSIC
PDB:4A1G|H 126 175 1e-13 PDB
low complexity region 426 433 N/A INTRINSIC
low complexity region 883 894 N/A INTRINSIC
low complexity region 1148 1159 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000028802
AA Change: S1373P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028802
Gene: ENSMUSG00000027326
AA Change: S1373P

DomainStartEndE-ValueType
low complexity region 49 58 N/A INTRINSIC
internal_repeat_1 98 304 1.57e-6 PROSPERO
low complexity region 426 433 N/A INTRINSIC
internal_repeat_1 610 824 1.57e-6 PROSPERO
low complexity region 883 894 N/A INTRINSIC
low complexity region 1148 1159 N/A INTRINSIC
low complexity region 1621 1644 N/A INTRINSIC
coiled coil region 1724 1755 N/A INTRINSIC
low complexity region 1836 1850 N/A INTRINSIC
low complexity region 1864 1878 N/A INTRINSIC
PDB:4NF9|B 1899 2119 1e-115 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000099542
AA Change: S1373P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097140
Gene: ENSMUSG00000027326
AA Change: S1373P

DomainStartEndE-ValueType
low complexity region 49 58 N/A INTRINSIC
internal_repeat_1 98 304 1.57e-6 PROSPERO
low complexity region 426 433 N/A INTRINSIC
internal_repeat_1 610 824 1.57e-6 PROSPERO
low complexity region 883 894 N/A INTRINSIC
low complexity region 1148 1159 N/A INTRINSIC
low complexity region 1621 1644 N/A INTRINSIC
coiled coil region 1724 1755 N/A INTRINSIC
low complexity region 1836 1850 N/A INTRINSIC
low complexity region 1864 1878 N/A INTRINSIC
PDB:4NF9|B 1899 2119 1e-115 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000152380
SMART Domains Protein: ENSMUSP00000118646
Gene: ENSMUSG00000027326

DomainStartEndE-ValueType
low complexity region 49 58 N/A INTRINSIC
PDB:4A1G|H 126 175 3e-14 PDB
low complexity region 426 433 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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 component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. Mice homozygous for an ENU-induced allele exhibit possible embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik T C 1: 158,797,126 (GRCm39) noncoding transcript Het
2310030G06Rik T C 9: 50,651,967 (GRCm39) E87G probably damaging Het
Aknad1 A T 3: 108,682,547 (GRCm39) H541L possibly damaging Het
Asb15 A G 6: 24,567,236 (GRCm39) E519G possibly damaging Het
Atad2 T C 15: 57,971,758 (GRCm39) D373G probably benign Het
Bbs12 G A 3: 37,374,529 (GRCm39) V326M probably damaging Het
Birc6 T C 17: 74,936,484 (GRCm39) I2617T probably damaging Het
Brca2 A G 5: 150,454,581 (GRCm39) T115A probably benign Het
Casz1 T C 4: 149,023,438 (GRCm39) L495P probably damaging Het
Ccdc30 T A 4: 119,190,785 (GRCm39) I481F probably damaging Het
Cept1 A T 3: 106,446,677 (GRCm39) Y56* probably null Het
Cfap54 A C 10: 92,897,315 (GRCm39) probably null Het
Cyp2j8 G T 4: 96,358,886 (GRCm39) D344E probably damaging Het
Dido1 A T 2: 180,331,368 (GRCm39) W27R probably damaging Het
Disp3 A G 4: 148,356,575 (GRCm39) I95T probably damaging Het
Engase G T 11: 118,377,920 (GRCm39) V237F possibly damaging Het
Ephb6 G A 6: 41,595,094 (GRCm39) E703K probably damaging Het
Fnip1 T A 11: 54,356,997 (GRCm39) F35L probably damaging Het
Fnip1 A T 11: 54,390,352 (GRCm39) T440S probably benign Het
Fras1 T A 5: 96,879,477 (GRCm39) H2431Q probably benign Het
Fzd4 A T 7: 89,056,924 (GRCm39) T324S probably damaging Het
Gm10192 C G 4: 97,071,345 (GRCm39) S20T probably null Het
Gpr84 A T 15: 103,217,027 (GRCm39) V350E probably damaging Het
Gsto2 T C 19: 47,863,312 (GRCm39) Y63H probably damaging Het
Gtpbp6 T C 5: 110,252,186 (GRCm39) T449A probably damaging Het
Herc2 G A 7: 55,820,388 (GRCm39) V2876I probably benign Het
Hnrnpa3 A G 2: 75,492,351 (GRCm39) I152V possibly damaging Het
Hpse2 T C 19: 42,777,510 (GRCm39) D552G possibly damaging Het
Itfg1 A G 8: 86,459,070 (GRCm39) V460A possibly damaging Het
Jhy G A 9: 40,822,494 (GRCm39) A548V probably benign Het
Klhl21 T A 4: 152,094,268 (GRCm39) L290Q possibly damaging Het
Kpna2 A C 11: 106,881,085 (GRCm39) M426R probably benign Het
Krt9 C T 11: 100,081,675 (GRCm39) V285I probably damaging Het
Lpar1 T G 4: 58,437,346 (GRCm39) H361P possibly damaging Het
Macf1 T C 4: 123,349,237 (GRCm39) T2100A probably benign Het
Mfsd13b T C 7: 120,590,549 (GRCm39) F97L probably damaging Het
Mmp15 A G 8: 96,098,958 (GRCm39) K595R probably benign Het
Mrps25 C T 6: 92,152,085 (GRCm39) G145D probably damaging Het
Muc4 T A 16: 32,574,916 (GRCm39) probably benign Het
Napa A T 7: 15,849,196 (GRCm39) K245N probably benign Het
Or10p1 C A 10: 129,444,043 (GRCm39) M102I probably damaging Het
Or14c39 A G 7: 86,344,329 (GRCm39) T222A probably benign Het
Or2y1c A T 11: 49,361,112 (GRCm39) I45F probably damaging Het
Or4g17 G A 2: 111,210,082 (GRCm39) V246M probably damaging Het
Or4k39 T A 2: 111,239,225 (GRCm39) noncoding transcript Het
Or5au1 T A 14: 52,272,921 (GRCm39) I216F possibly damaging Het
Or8c20 A G 9: 38,260,577 (GRCm39) Y60C probably damaging Het
Or8k35 A G 2: 86,424,381 (GRCm39) S264P possibly damaging Het
Papss2 A T 19: 32,616,378 (GRCm39) T195S probably benign Het
Parp4 T A 14: 56,848,267 (GRCm39) H694Q probably damaging Het
Patj C T 4: 98,293,807 (GRCm39) R20* probably null Het
Pcdhgb8 T A 18: 37,895,419 (GRCm39) V163E probably damaging Het
Pkd2l1 T A 19: 44,144,060 (GRCm39) T338S probably benign Het
Ppargc1b A T 18: 61,444,328 (GRCm39) S278R possibly damaging Het
Ppl T C 16: 4,906,846 (GRCm39) T1150A probably benign Het
Ralgds A G 2: 28,442,164 (GRCm39) D858G probably damaging Het
Rassf2 G A 2: 131,844,783 (GRCm39) probably benign Het
Ring1 T C 17: 34,240,971 (GRCm39) probably benign Het
Rusc1 A C 3: 88,998,949 (GRCm39) S278A probably benign Het
Samd9l T C 6: 3,375,623 (GRCm39) N546S probably benign Het
Sct A C 7: 140,858,954 (GRCm39) probably benign Het
Slc22a12 T G 19: 6,588,474 (GRCm39) H348P probably benign Het
Slc25a15 A G 8: 22,873,248 (GRCm39) S143P probably damaging Het
Slc26a11 C A 11: 119,247,657 (GRCm39) probably benign Het
Slc6a20b A G 9: 123,427,625 (GRCm39) M428T probably damaging Het
Smim17 G A 7: 6,432,321 (GRCm39) V88M probably damaging Het
Smoc1 G T 12: 81,214,425 (GRCm39) W269L probably damaging Het
Sox5 C T 6: 143,807,109 (GRCm39) probably null Het
Sp100 A G 1: 85,629,179 (GRCm39) *483W probably null Het
Sptbn5 T A 2: 119,907,703 (GRCm39) noncoding transcript Het
Sun5 G A 2: 153,707,283 (GRCm39) R132* probably null Het
Tedc2 A G 17: 24,435,354 (GRCm39) V345A probably benign Het
Tlr6 T A 5: 65,111,739 (GRCm39) R389S probably benign Het
Ttc17 G T 2: 94,202,113 (GRCm39) H396Q probably damaging Het
Ttn A G 2: 76,773,383 (GRCm39) S2340P probably damaging Het
Vmn1r219 C T 13: 23,346,999 (GRCm39) Q63* probably null Het
Vmn1r224 A G 17: 20,639,902 (GRCm39) T160A possibly damaging Het
Vmn2r11 T C 5: 109,195,436 (GRCm39) N630S probably damaging Het
Zfp1005 T A 2: 150,109,549 (GRCm39) C80S possibly damaging Het
Zfp747 A G 7: 126,973,498 (GRCm39) V224A possibly damaging Het
Zfp804b T C 5: 6,822,250 (GRCm39) N271S probably benign Het
Other mutations in Knl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Knl1 APN 2 118,894,564 (GRCm39) missense probably damaging 0.96
IGL00582:Knl1 APN 2 118,932,980 (GRCm39) missense probably benign 0.19
IGL00666:Knl1 APN 2 118,900,945 (GRCm39) missense probably damaging 0.96
IGL01062:Knl1 APN 2 118,907,461 (GRCm39) missense probably benign 0.33
IGL01395:Knl1 APN 2 118,902,047 (GRCm39) missense probably damaging 0.96
IGL01604:Knl1 APN 2 118,900,482 (GRCm39) missense probably damaging 1.00
IGL01996:Knl1 APN 2 118,934,542 (GRCm39) missense probably damaging 1.00
IGL02086:Knl1 APN 2 118,931,255 (GRCm39) missense probably benign 0.40
IGL02105:Knl1 APN 2 118,902,289 (GRCm39) missense probably benign
IGL02106:Knl1 APN 2 118,902,489 (GRCm39) missense possibly damaging 0.89
IGL02201:Knl1 APN 2 118,899,633 (GRCm39) missense probably benign 0.01
IGL02252:Knl1 APN 2 118,903,021 (GRCm39) missense probably damaging 1.00
IGL02414:Knl1 APN 2 118,900,804 (GRCm39) missense possibly damaging 0.83
IGL02655:Knl1 APN 2 118,901,473 (GRCm39) missense possibly damaging 0.62
IGL02682:Knl1 APN 2 118,908,450 (GRCm39) missense possibly damaging 0.86
IGL02710:Knl1 APN 2 118,901,411 (GRCm39) missense probably damaging 0.99
IGL02877:Knl1 APN 2 118,919,312 (GRCm39) missense probably benign 0.08
IGL03100:Knl1 APN 2 118,931,251 (GRCm39) missense probably damaging 0.99
IGL03210:Knl1 APN 2 118,901,098 (GRCm39) missense probably benign 0.02
IGL03138:Knl1 UTSW 2 118,902,840 (GRCm39) missense probably damaging 0.96
R0023:Knl1 UTSW 2 118,933,030 (GRCm39) missense possibly damaging 0.73
R0064:Knl1 UTSW 2 118,906,724 (GRCm39) missense probably benign 0.00
R0064:Knl1 UTSW 2 118,906,724 (GRCm39) missense probably benign 0.00
R0078:Knl1 UTSW 2 118,900,373 (GRCm39) missense probably benign 0.16
R0178:Knl1 UTSW 2 118,888,886 (GRCm39) splice site probably benign
R0295:Knl1 UTSW 2 118,919,320 (GRCm39) missense probably damaging 1.00
R0433:Knl1 UTSW 2 118,934,542 (GRCm39) missense probably damaging 0.96
R0453:Knl1 UTSW 2 118,898,869 (GRCm39) missense probably damaging 1.00
R0569:Knl1 UTSW 2 118,927,916 (GRCm39) missense possibly damaging 0.95
R0827:Knl1 UTSW 2 118,919,382 (GRCm39) splice site probably benign
R0920:Knl1 UTSW 2 118,900,309 (GRCm39) missense probably benign 0.00
R1120:Knl1 UTSW 2 118,892,856 (GRCm39) missense probably damaging 0.99
R1155:Knl1 UTSW 2 118,901,635 (GRCm39) missense possibly damaging 0.90
R1204:Knl1 UTSW 2 118,901,670 (GRCm39) missense probably benign 0.00
R1241:Knl1 UTSW 2 118,903,054 (GRCm39) missense probably benign 0.03
R1387:Knl1 UTSW 2 118,901,211 (GRCm39) missense possibly damaging 0.93
R1448:Knl1 UTSW 2 118,898,788 (GRCm39) missense probably damaging 1.00
R1469:Knl1 UTSW 2 118,901,827 (GRCm39) missense possibly damaging 0.73
R1469:Knl1 UTSW 2 118,901,827 (GRCm39) missense possibly damaging 0.73
R1719:Knl1 UTSW 2 118,902,219 (GRCm39) missense probably benign 0.01
R1721:Knl1 UTSW 2 118,906,815 (GRCm39) missense probably damaging 1.00
R2128:Knl1 UTSW 2 118,902,300 (GRCm39) missense possibly damaging 0.79
R2170:Knl1 UTSW 2 118,918,075 (GRCm39) critical splice donor site probably null
R2227:Knl1 UTSW 2 118,902,481 (GRCm39) missense probably damaging 0.97
R2246:Knl1 UTSW 2 118,902,708 (GRCm39) missense probably damaging 1.00
R2275:Knl1 UTSW 2 118,902,762 (GRCm39) missense probably damaging 0.99
R2508:Knl1 UTSW 2 118,888,849 (GRCm39) nonsense probably null
R3115:Knl1 UTSW 2 118,900,872 (GRCm39) missense possibly damaging 0.53
R3122:Knl1 UTSW 2 118,899,425 (GRCm39) missense probably benign 0.32
R3431:Knl1 UTSW 2 118,892,843 (GRCm39) missense probably damaging 1.00
R3755:Knl1 UTSW 2 118,933,060 (GRCm39) missense probably damaging 1.00
R4461:Knl1 UTSW 2 118,890,080 (GRCm39) missense probably benign 0.00
R4600:Knl1 UTSW 2 118,901,025 (GRCm39) missense possibly damaging 0.90
R4713:Knl1 UTSW 2 118,899,618 (GRCm39) nonsense probably null
R4758:Knl1 UTSW 2 118,902,213 (GRCm39) frame shift probably null
R4869:Knl1 UTSW 2 118,902,832 (GRCm39) missense possibly damaging 0.73
R4870:Knl1 UTSW 2 118,911,994 (GRCm39) missense probably benign 0.22
R4935:Knl1 UTSW 2 118,899,438 (GRCm39) missense possibly damaging 0.50
R5167:Knl1 UTSW 2 118,900,512 (GRCm39) missense probably damaging 1.00
R5184:Knl1 UTSW 2 118,899,657 (GRCm39) missense probably damaging 1.00
R5293:Knl1 UTSW 2 118,900,176 (GRCm39) missense probably damaging 0.99
R5326:Knl1 UTSW 2 118,898,829 (GRCm39) missense possibly damaging 0.66
R5331:Knl1 UTSW 2 118,900,736 (GRCm39) missense possibly damaging 0.92
R5353:Knl1 UTSW 2 118,901,464 (GRCm39) missense probably benign 0.01
R5493:Knl1 UTSW 2 118,899,211 (GRCm39) missense probably damaging 0.98
R5542:Knl1 UTSW 2 118,898,829 (GRCm39) missense possibly damaging 0.66
R5632:Knl1 UTSW 2 118,900,833 (GRCm39) missense probably damaging 1.00
R5650:Knl1 UTSW 2 118,912,031 (GRCm39) nonsense probably null
R5854:Knl1 UTSW 2 118,900,884 (GRCm39) missense probably benign 0.02
R5979:Knl1 UTSW 2 118,899,841 (GRCm39) missense possibly damaging 0.83
R6086:Knl1 UTSW 2 118,924,549 (GRCm39) missense probably damaging 1.00
R6283:Knl1 UTSW 2 118,900,767 (GRCm39) missense probably damaging 1.00
R6285:Knl1 UTSW 2 118,902,422 (GRCm39) missense probably damaging 1.00
R6313:Knl1 UTSW 2 118,899,799 (GRCm39) missense probably damaging 1.00
R6419:Knl1 UTSW 2 118,899,484 (GRCm39) missense probably benign 0.02
R6608:Knl1 UTSW 2 118,917,093 (GRCm39) missense probably damaging 0.99
R6881:Knl1 UTSW 2 118,925,665 (GRCm39) missense possibly damaging 0.67
R7161:Knl1 UTSW 2 118,901,266 (GRCm39) missense possibly damaging 0.79
R7206:Knl1 UTSW 2 118,899,780 (GRCm39) missense probably benign 0.35
R7270:Knl1 UTSW 2 118,933,003 (GRCm39) missense possibly damaging 0.53
R7276:Knl1 UTSW 2 118,902,167 (GRCm39) missense probably damaging 0.98
R7358:Knl1 UTSW 2 118,901,040 (GRCm39) missense possibly damaging 0.92
R7402:Knl1 UTSW 2 118,925,707 (GRCm39) nonsense probably null
R7408:Knl1 UTSW 2 118,901,073 (GRCm39) missense possibly damaging 0.54
R7475:Knl1 UTSW 2 118,918,027 (GRCm39) missense probably damaging 1.00
R7516:Knl1 UTSW 2 118,901,179 (GRCm39) missense probably damaging 0.99
R7524:Knl1 UTSW 2 118,896,460 (GRCm39) missense probably damaging 1.00
R7559:Knl1 UTSW 2 118,924,487 (GRCm39) missense possibly damaging 0.84
R7607:Knl1 UTSW 2 118,925,614 (GRCm39) missense possibly damaging 0.93
R7745:Knl1 UTSW 2 118,902,037 (GRCm39) missense probably benign 0.13
R7847:Knl1 UTSW 2 118,901,457 (GRCm39) missense probably benign 0.02
R8423:Knl1 UTSW 2 118,900,513 (GRCm39) missense probably damaging 1.00
R8725:Knl1 UTSW 2 118,899,524 (GRCm39) missense probably benign 0.34
R8727:Knl1 UTSW 2 118,899,524 (GRCm39) missense probably benign 0.34
R8995:Knl1 UTSW 2 118,902,990 (GRCm39) missense probably benign 0.11
R9023:Knl1 UTSW 2 118,900,761 (GRCm39) missense probably benign 0.27
R9100:Knl1 UTSW 2 118,899,469 (GRCm39) missense probably benign 0.02
R9102:Knl1 UTSW 2 118,917,973 (GRCm39) missense probably benign 0.22
R9303:Knl1 UTSW 2 118,898,829 (GRCm39) missense possibly damaging 0.83
R9400:Knl1 UTSW 2 118,931,224 (GRCm39) missense probably damaging 0.98
R9426:Knl1 UTSW 2 118,899,979 (GRCm39) missense possibly damaging 0.81
R9583:Knl1 UTSW 2 118,887,782 (GRCm39) missense probably damaging 1.00
R9616:Knl1 UTSW 2 118,907,425 (GRCm39) missense probably damaging 1.00
R9616:Knl1 UTSW 2 118,899,994 (GRCm39) missense probably benign 0.02
R9671:Knl1 UTSW 2 118,901,089 (GRCm39) missense probably damaging 1.00
R9766:Knl1 UTSW 2 118,900,381 (GRCm39) missense probably damaging 1.00
R9782:Knl1 UTSW 2 118,899,910 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- ATGTCGCTGCATCCACATG -3'
(R):5'- CATCTCTATCATTCCTGGAACCTAG -3'

Sequencing Primer
(F):5'- TCCACATGGGAAAATGAGTCC -3'
(R):5'- CAAGTAACTGTTCGGCAG -3'
Posted On 2015-11-11