Incidental Mutation 'R6817:Nsl1'
ID 537362
Institutional Source Beutler Lab
Gene Symbol Nsl1
Ensembl Gene ENSMUSG00000062510
Gene Name NSL1, MIS12 kinetochore complex component
Synonyms LOC381318, 4833432M17Rik
MMRRC Submission 044929-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R6817 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 190794710-190816755 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 190795471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027945] [ENSMUST00000076952] [ENSMUST00000078259] [ENSMUST00000085633] [ENSMUST00000110891] [ENSMUST00000110893] [ENSMUST00000139340]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027945
SMART Domains Protein: ENSMUSP00000027945
Gene: ENSMUSG00000026632

DomainStartEndE-ValueType
Pfam:TatD_DNase 6 263 5e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000076952
SMART Domains Protein: ENSMUSP00000076220
Gene: ENSMUSG00000062510

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 67 170 1.6e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000078259
SMART Domains Protein: ENSMUSP00000077380
Gene: ENSMUSG00000062510

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 82 197 2.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085633
SMART Domains Protein: ENSMUSP00000082773
Gene: ENSMUSG00000026632

DomainStartEndE-ValueType
Pfam:TatD_DNase 6 170 1.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110891
SMART Domains Protein: ENSMUSP00000106516
Gene: ENSMUSG00000026632

DomainStartEndE-ValueType
Pfam:TatD_DNase 6 231 2.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110893
SMART Domains Protein: ENSMUSP00000106518
Gene: ENSMUSG00000026632

DomainStartEndE-ValueType
Pfam:TatD_DNase 6 264 1.8e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000139340
SMART Domains Protein: ENSMUSP00000115289
Gene: ENSMUSG00000062510

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 67 171 7e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Arhgap21 A C 2: 20,885,107 (GRCm39) L690R probably benign Het
Asxl3 A G 18: 22,656,637 (GRCm39) N1549S probably benign Het
Cast T C 13: 74,847,277 (GRCm39) T670A possibly damaging Het
Cd109 A G 9: 78,622,237 (GRCm39) D1409G probably benign Het
Cemip A G 7: 83,637,200 (GRCm39) F311S probably damaging Het
Cfap43 T A 19: 47,744,524 (GRCm39) I1210F possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cops5 G A 1: 10,100,829 (GRCm39) L256F probably benign Het
Cux1 T C 5: 136,402,027 (GRCm39) probably null Het
Dab1 A G 4: 104,536,743 (GRCm39) K178E probably damaging Het
Ddc A G 11: 11,774,854 (GRCm39) Y346H probably damaging Het
Dlg2 T G 7: 91,614,872 (GRCm39) D225E probably benign Het
Dsg1b A T 18: 20,527,462 (GRCm39) I198F probably damaging Het
Ect2l T C 10: 18,049,807 (GRCm39) H155R probably benign Het
Epha2 A G 4: 141,036,305 (GRCm39) H247R probably damaging Het
Esrp1 A G 4: 11,357,552 (GRCm39) V355A probably damaging Het
Fam78b A G 1: 166,906,419 (GRCm39) M193V possibly damaging Het
Gdpd4 A G 7: 97,607,037 (GRCm39) T4A probably benign Het
Gm17175 T C 14: 51,810,478 (GRCm39) N50D possibly damaging Het
Kcnt2 A G 1: 140,173,931 (GRCm39) probably benign Het
Lpo T C 11: 87,700,067 (GRCm39) N525D probably benign Het
Lrrc41 G A 4: 115,946,502 (GRCm39) E406K possibly damaging Het
Lrrc59 G C 11: 94,520,891 (GRCm39) D21H probably damaging Het
Mgat4a G A 1: 37,488,204 (GRCm39) R472* probably null Het
Mroh7 C T 4: 106,571,312 (GRCm39) A14T probably benign Het
Muc5b T C 7: 141,416,650 (GRCm39) S3199P probably benign Het
Muc6 T A 7: 141,237,326 (GRCm39) Y270F probably damaging Het
Myo18b T A 5: 112,978,104 (GRCm39) T1273S probably benign Het
Nos2 A T 11: 78,836,092 (GRCm39) E385V possibly damaging Het
Nup93 T C 8: 95,041,310 (GRCm39) probably null Het
Or5d45 A T 2: 88,153,107 (GRCm39) M314K probably benign Het
Pcna-ps2 T G 19: 9,260,861 (GRCm39) M40R probably damaging Het
Pik3r5 A G 11: 68,377,407 (GRCm39) E148G probably damaging Het
Pirt A G 11: 66,816,737 (GRCm39) E16G probably damaging Het
Pkp4 T C 2: 59,148,944 (GRCm39) Y566H probably damaging Het
Psg17 A C 7: 18,548,565 (GRCm39) V402G probably damaging Het
Ptprb GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT 10: 116,119,582 (GRCm39) probably benign Het
Rassf7 A G 7: 140,797,360 (GRCm39) E191G probably damaging Het
Rnf213 T C 11: 119,353,111 (GRCm39) probably null Het
Slc34a2 C T 5: 53,221,370 (GRCm39) T272I probably damaging Het
Sos2 T C 12: 69,664,935 (GRCm39) E332G probably benign Het
Spdye4c T C 2: 128,438,430 (GRCm39) Y263H probably damaging Het
Tmprss11f C T 5: 86,704,793 (GRCm39) V42I probably benign Het
Trpv5 T A 6: 41,634,941 (GRCm39) N463Y possibly damaging Het
Ush2a A T 1: 188,595,061 (GRCm39) Q3831L probably benign Het
Wdr41 C A 13: 95,133,812 (GRCm39) probably null Het
Zfand1 A G 3: 10,405,884 (GRCm39) C246R probably benign Het
Other mutations in Nsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02546:Nsl1 APN 1 190,803,398 (GRCm39) missense probably benign 0.06
IGL03398:Nsl1 APN 1 190,814,361 (GRCm39) splice site probably benign
IGL02988:Nsl1 UTSW 1 190,795,300 (GRCm39) nonsense probably null
R0054:Nsl1 UTSW 1 190,814,381 (GRCm39) missense probably damaging 1.00
R0054:Nsl1 UTSW 1 190,814,381 (GRCm39) missense probably damaging 1.00
R0284:Nsl1 UTSW 1 190,797,427 (GRCm39) missense probably damaging 1.00
R0482:Nsl1 UTSW 1 190,795,237 (GRCm39) start codon destroyed probably null 0.83
R1776:Nsl1 UTSW 1 190,795,385 (GRCm39) missense probably benign
R5187:Nsl1 UTSW 1 190,807,387 (GRCm39) missense probably benign 0.01
R5470:Nsl1 UTSW 1 190,812,737 (GRCm39) missense probably benign 0.24
R5838:Nsl1 UTSW 1 190,802,310 (GRCm39) missense probably benign 0.02
R6133:Nsl1 UTSW 1 190,803,403 (GRCm39) missense probably damaging 0.99
R6636:Nsl1 UTSW 1 190,807,324 (GRCm39) missense probably benign 0.00
R7755:Nsl1 UTSW 1 190,795,380 (GRCm39) missense probably benign 0.21
R8506:Nsl1 UTSW 1 190,808,832 (GRCm39) missense unknown
R8710:Nsl1 UTSW 1 190,795,420 (GRCm39) missense probably benign 0.00
R8731:Nsl1 UTSW 1 190,814,609 (GRCm39) missense probably damaging 1.00
Z1177:Nsl1 UTSW 1 190,795,428 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTGTCTCTGAAACAGTGCTC -3'
(R):5'- GCCCTGTATGTTCCTGACAG -3'

Sequencing Primer
(F):5'- TGAAACAGTGCTCGTCTCCG -3'
(R):5'- TCCTGACAGGAAGCAGCAC -3'
Posted On 2018-10-18