Incidental Mutation 'R7524:Knl1'
ID 582818
Institutional Source Beutler Lab
Gene Symbol Knl1
Ensembl Gene ENSMUSG00000027326
Gene Name kinetochore scaffold 1
Synonyms Casc5, 2310043D08Rik, 5730505K17Rik
MMRRC Submission 045596-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7524 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 118877600-118935982 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118896460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 94 (Q94L)
Ref Sequence ENSEMBL: ENSMUSP00000118646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028799] [ENSMUST00000028802] [ENSMUST00000099542] [ENSMUST00000152380] [ENSMUST00000153300]
AlphaFold Q66JQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000028799
AA Change: Q94L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028799
Gene: ENSMUSG00000027326
AA Change: Q94L

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 damaging
Transcript: ENSMUST00000028802
AA Change: Q94L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028802
Gene: ENSMUSG00000027326
AA Change: Q94L

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 damaging
Transcript: ENSMUST00000099542
AA Change: Q94L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097140
Gene: ENSMUSG00000027326
AA Change: Q94L

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 damaging
Transcript: ENSMUST00000152380
AA Change: Q94L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118646
Gene: ENSMUSG00000027326
AA Change: Q94L

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
Predicted Effect probably benign
Transcript: ENSMUST00000153300
SMART Domains Protein: ENSMUSP00000120905
Gene: ENSMUSG00000027326

DomainStartEndE-ValueType
low complexity region 49 58 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (79/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 C T 8: 56,325,395 (GRCm39) C353Y probably damaging Het
Afap1l2 T A 19: 56,906,543 (GRCm39) E452V probably damaging Het
Ak6 A G 13: 100,800,415 (GRCm39) D45G probably benign Het
Arhgap17 G A 7: 122,905,643 (GRCm39) P334L probably damaging Het
Asns G T 6: 7,677,259 (GRCm39) probably null Het
Bend7 A G 2: 4,804,791 (GRCm39) T424A probably benign Het
Btbd2 C T 10: 80,482,278 (GRCm39) E241K probably damaging Het
Commd2 A C 3: 57,557,569 (GRCm39) L99W probably damaging Het
Cpne9 A T 6: 113,279,025 (GRCm39) D473V probably damaging Het
Cuzd1 A T 7: 130,913,347 (GRCm39) F423L probably damaging Het
Cyp2d9 T C 15: 82,340,146 (GRCm39) F390L probably damaging Het
Dcaf5 T A 12: 80,423,470 (GRCm39) Q234L probably benign Het
Dennd3 T G 15: 73,396,095 (GRCm39) Y201* probably null Het
Dnah17 T C 11: 118,012,307 (GRCm39) D485G probably benign Het
Dnah5 A T 15: 28,297,212 (GRCm39) T1469S possibly damaging Het
Dnah6 T C 6: 73,095,082 (GRCm39) D2167G probably damaging Het
Dst T C 1: 34,330,974 (GRCm39) V4921A possibly damaging Het
Ephb2 A G 4: 136,387,020 (GRCm39) Y736H probably damaging Het
Eri2 C G 7: 119,384,972 (GRCm39) V510L probably benign Het
Eya2 G A 2: 165,611,246 (GRCm39) probably null Het
Fastkd5 G T 2: 130,458,048 (GRCm39) Q181K probably benign Het
Fcgbp T C 7: 27,802,391 (GRCm39) S1440P probably damaging Het
Fkbp9 G A 6: 56,845,725 (GRCm39) V354M probably damaging Het
Frmpd1 T A 4: 45,271,181 (GRCm39) S304T probably benign Het
Gtf2a2 T A 9: 69,922,629 (GRCm39) Y3* probably null Het
Hagh G A 17: 25,080,314 (GRCm39) V226I probably benign Het
Hemk1 T A 9: 107,205,484 (GRCm39) I293F probably benign Het
Kcna3 A G 3: 106,944,523 (GRCm39) E262G probably damaging Het
Kcnt2 A T 1: 140,511,793 (GRCm39) T983S probably damaging Het
Klhdc3 A T 17: 46,989,340 (GRCm39) H7Q probably damaging Het
Krt12 T C 11: 99,310,485 (GRCm39) D224G probably damaging Het
Lats1 T A 10: 7,577,742 (GRCm39) S289T possibly damaging Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Map1a G A 2: 121,120,293 (GRCm39) V60M probably damaging Het
Mms22l T A 4: 24,536,138 (GRCm39) F536I possibly damaging Het
Ms4a14 T C 19: 11,281,200 (GRCm39) T453A unknown Het
Muc3a A C 5: 137,245,020 (GRCm39) I151S probably benign Het
Myorg C A 4: 41,498,779 (GRCm39) V284L probably benign Het
Oaf G A 9: 43,134,077 (GRCm39) R215C probably damaging Het
Or4c112 T A 2: 88,854,315 (GRCm39) I11L probably benign Het
Or4c125 A G 2: 89,170,221 (GRCm39) C142R probably benign Het
Or4e5 T C 14: 52,727,750 (GRCm39) I224V probably damaging Het
Or5ar1 T A 2: 85,671,701 (GRCm39) M145L probably benign Het
Or6z7 T C 7: 6,483,586 (GRCm39) N190D probably benign Het
Or7a42 T A 10: 78,791,325 (GRCm39) Y95* probably null Het
Pcdhgb4 A T 18: 37,854,661 (GRCm39) D352V probably benign Het
Pced1a A G 2: 130,263,948 (GRCm39) F235L probably benign Het
Pclo A G 5: 14,728,317 (GRCm39) I2392V unknown Het
Pld1 A T 3: 28,078,470 (GRCm39) D43V possibly damaging Het
Ppp1r1b C A 11: 98,241,720 (GRCm39) A51D possibly damaging Het
Prr23a1 T A 9: 98,724,917 (GRCm39) L93H probably damaging Het
Psg20 T C 7: 18,418,584 (GRCm39) D61G probably benign Het
Rab40b T A 11: 121,278,878 (GRCm39) I31F probably damaging Het
Rasd2 T C 8: 75,948,709 (GRCm39) F212L probably benign Het
Rbl2 A G 8: 91,841,821 (GRCm39) I1006V probably benign Het
Sema6c A G 3: 95,074,371 (GRCm39) E59G probably benign Het
Slc22a2 G T 17: 12,824,944 (GRCm39) V269L possibly damaging Het
Slc2a1 C T 4: 118,989,809 (GRCm39) P149S probably damaging Het
Smad4 T G 18: 73,808,942 (GRCm39) E108D probably damaging Het
Sorbs2 T A 8: 46,248,693 (GRCm39) I648K probably benign Het
Suclg1 A T 6: 73,240,824 (GRCm39) I118F probably damaging Het
Tasor T A 14: 27,188,160 (GRCm39) C869S probably damaging Het
Tet2 A G 3: 133,185,990 (GRCm39) I1149T probably benign Het
Tfr2 T A 5: 137,569,751 (GRCm39) Y82* probably null Het
Tfr2 G T 5: 137,581,751 (GRCm39) V613L probably benign Het
Tg A T 15: 66,568,010 (GRCm39) M1305L probably benign Het
Tmem176a A T 6: 48,821,039 (GRCm39) M170L probably benign Het
Trim71 T C 9: 114,342,230 (GRCm39) N684S probably benign Het
Tspan9 A G 6: 127,942,214 (GRCm39) I212T probably benign Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Uqcrc1 C T 9: 108,765,827 (GRCm39) T14M possibly damaging Het
Vmn2r11 T C 5: 109,201,848 (GRCm39) I219V probably benign Het
Vmn2r76 T C 7: 85,874,577 (GRCm39) H800R probably benign Het
Vmn2r76 C T 7: 85,879,374 (GRCm39) G309R probably benign Het
Xpc A T 6: 91,476,513 (GRCm39) C529S probably benign Het
Zfp455 T A 13: 67,355,688 (GRCm39) S254T possibly damaging Het
Zfp746 T C 6: 48,041,823 (GRCm39) H301R possibly damaging Het
Zyg11a A T 4: 108,049,271 (GRCm39) I490N probably damaging 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
R4762:Knl1 UTSW 2 118,902,417 (GRCm39) missense probably benign 0.01
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
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'- TTGGAGGAGGAAAATATGAGCTC -3'
(R):5'- TGGCAATGACTTAATTTACCTCAAT -3'

Sequencing Primer
(F):5'- CTTATACAAGGCAGGTCCATCTGG -3'
(R):5'- ATTCACTTTGGTAAGTTATCTC -3'
Posted On 2019-10-17