Incidental Mutation 'R8731:Nsl1'
ID 662735
Institutional Source Beutler Lab
Gene Symbol Nsl1
Ensembl Gene ENSMUSG00000062510
Gene Name NSL1, MIS12 kinetochore complex component
Synonyms LOC381318, 4833432M17Rik
MMRRC Submission 068579-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R8731 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 190794710-190816755 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 190814609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 270 (Y270C)
Ref Sequence ENSEMBL: ENSMUSP00000077380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078259]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000078259
AA Change: Y270C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077380
Gene: ENSMUSG00000062510
AA Change: Y270C

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 82 197 2.9e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 95.9%
Validation Efficiency 100% (48/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A T 3: 59,932,367 (GRCm39) D294V probably benign Het
Abcc8 T G 7: 45,803,986 (GRCm39) Y396S probably damaging Het
Ace T A 11: 105,861,426 (GRCm39) F192I possibly damaging Het
Apeh A G 9: 107,964,422 (GRCm39) S494P probably benign Het
Bod1 A G 11: 31,619,242 (GRCm39) probably null Het
Cap2 T C 13: 46,800,006 (GRCm39) M404T probably benign Het
Cc2d2a A T 5: 43,892,788 (GRCm39) D1450V probably damaging Het
Cdk5rap2 A T 4: 70,163,747 (GRCm39) probably benign Het
Clip1 A C 5: 123,752,756 (GRCm39) S342A Het
Cox10 A G 11: 63,855,045 (GRCm39) F412S probably damaging Het
Cracr2a T G 6: 127,602,890 (GRCm39) probably null Het
Dcaf7 T A 11: 105,945,548 (GRCm39) M299K possibly damaging Het
Dffb T C 4: 154,059,101 (GRCm39) T59A possibly damaging Het
Dgkd A G 1: 87,844,535 (GRCm39) M234V possibly damaging Het
Disp1 A T 1: 182,869,072 (GRCm39) V1116E possibly damaging Het
Dpysl3 C T 18: 43,571,157 (GRCm39) C39Y probably damaging Het
Dync1h1 T A 12: 110,607,018 (GRCm39) V2565D possibly damaging Het
Fam227b A T 2: 125,968,898 (GRCm39) Y59N possibly damaging Het
Gm21680 A T 5: 26,173,230 (GRCm39) V210D probably damaging Het
Gm57858 A T 3: 36,089,434 (GRCm39) N163K probably benign Het
Gnas T C 2: 174,126,699 (GRCm39) V78A probably benign Het
Gpr179 T C 11: 97,234,555 (GRCm39) T509A probably damaging Het
Igfn1 A G 1: 135,925,574 (GRCm39) M60T probably benign Het
Llgl2 A G 11: 115,742,016 (GRCm39) Q686R probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Mylk3 T G 8: 86,085,634 (GRCm39) E300A probably benign Het
Myo1b A C 1: 51,799,570 (GRCm39) probably benign Het
Myo9b T C 8: 71,806,486 (GRCm39) probably null Het
Nalcn T C 14: 123,837,266 (GRCm39) I33V probably benign Het
Or5af1 C T 11: 58,722,268 (GRCm39) A96V probably benign Het
Otulin A G 15: 27,608,928 (GRCm39) M205T probably benign Het
Plch1 A T 3: 63,605,059 (GRCm39) V1615E probably benign Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Scn3a A T 2: 65,298,507 (GRCm39) Y1397* probably null Het
Scrib A T 15: 75,935,488 (GRCm39) H549Q probably benign Het
Slc36a4 A G 9: 15,631,048 (GRCm39) I56V possibly damaging Het
Spata7 T A 12: 98,624,541 (GRCm39) S148T probably damaging Het
Stk31 T A 6: 49,415,435 (GRCm39) L590Q probably benign Het
Tanc1 T C 2: 59,673,596 (GRCm39) V1567A probably benign Het
Tspan33 T C 6: 29,717,310 (GRCm39) F237S probably damaging Het
Uhrf1 T A 17: 56,629,363 (GRCm39) L737Q probably damaging Het
Vmn2r2 A G 3: 64,024,404 (GRCm39) F726L probably benign Het
Vmn2r65 A T 7: 84,589,447 (GRCm39) L823* probably null Het
Vps11 T C 9: 44,265,756 (GRCm39) N508D 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
R6817:Nsl1 UTSW 1 190,795,471 (GRCm39) critical splice donor site probably null
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
Z1177:Nsl1 UTSW 1 190,795,428 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGGAGAAGGCTTTTCCCAG -3'
(R):5'- AGCCGTATTCCAGGATTCACAG -3'

Sequencing Primer
(F):5'- TCCCAGGTCTTAAAGATGCG -3'
(R):5'- GTATTCCAGGATTCACAGCAGCG -3'
Posted On 2021-03-08