Incidental Mutation 'R7755:Nsl1'
ID 597480
Institutional Source Beutler Lab
Gene Symbol Nsl1
Ensembl Gene ENSMUSG00000062510
Gene Name NSL1, MIS12 kinetochore complex component
Synonyms LOC381318, 4833432M17Rik
MMRRC Submission 045811-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R7755 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 190794710-190816755 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 190795380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 49 (V49M)
Ref Sequence ENSEMBL: ENSMUSP00000077380 (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 benign
Transcript: ENSMUST00000076952
AA Change: V49M

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000076220
Gene: ENSMUSG00000062510
AA Change: V49M

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 67 170 1.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078259
AA Change: V49M

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000077380
Gene: ENSMUSG00000062510
AA Change: V49M

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 benign
Transcript: ENSMUST00000139340
AA Change: V49M

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115289
Gene: ENSMUSG00000062510
AA Change: V49M

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 67 171 7e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (52/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,236,187 (GRCm39) M1179I probably benign Het
4930402F06Rik T C 2: 35,266,349 (GRCm39) Y107C probably damaging Het
Aff4 T C 11: 53,289,206 (GRCm39) S452P probably damaging Het
Astn2 T C 4: 65,712,795 (GRCm39) D615G probably damaging Het
Begain A G 12: 109,018,802 (GRCm39) L215P probably benign Het
Carf T A 1: 60,187,214 (GRCm39) S606T probably benign Het
Cngb3 A T 4: 19,461,684 (GRCm39) T522S probably benign Het
Ctsll3 A T 13: 60,948,219 (GRCm39) F153I probably damaging Het
Cubn G A 2: 13,284,889 (GRCm39) T3509I probably benign Het
Dmrta1 T C 4: 89,580,170 (GRCm39) S377P probably benign Het
Dnmbp G A 19: 43,838,525 (GRCm39) A659V probably benign Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 T C 9: 7,015,490 (GRCm39) D3598G probably benign Het
Elp1 T C 4: 56,774,552 (GRCm39) N779S possibly damaging Het
Flot2 T C 11: 77,940,339 (GRCm39) F29L probably benign Het
Hectd1 A T 12: 51,849,003 (GRCm39) I367K possibly damaging Het
Ivl T A 3: 92,479,317 (GRCm39) K249N probably damaging Het
Khnyn A G 14: 56,125,425 (GRCm39) T503A probably damaging Het
Mbd4 T A 6: 115,821,546 (GRCm39) I490F probably damaging Het
Mlip T C 9: 77,136,838 (GRCm39) T690A probably benign Het
Mmp1a T A 9: 7,467,005 (GRCm39) D227E possibly damaging Het
Mrgprf T C 7: 144,862,380 (GRCm39) L314P probably damaging Het
Ndufb9 T G 15: 58,808,255 (GRCm39) Y80* probably null Het
Neto2 C T 8: 86,396,285 (GRCm39) R155H probably damaging Het
Npat T A 9: 53,470,470 (GRCm39) N365K possibly damaging Het
Nudt21 T A 8: 94,749,493 (GRCm39) Y191F probably benign Het
Or2w25 A G 11: 59,504,467 (GRCm39) R226G probably damaging Het
Or8b54 T G 9: 38,687,073 (GRCm39) I174S possibly damaging Het
Pcdh18 T C 3: 49,709,278 (GRCm39) Y679C possibly damaging Het
Pkd1l3 A G 8: 110,356,798 (GRCm39) D741G possibly damaging Het
Pkhd1 T C 1: 20,617,717 (GRCm39) D956G probably damaging Het
Poglut2 T C 1: 44,157,733 (GRCm39) probably benign Het
Pparg C T 6: 115,440,067 (GRCm39) P214S probably damaging Het
Ppargc1a T A 5: 51,630,883 (GRCm39) Y582F unknown Het
Prdm9 C T 17: 15,765,226 (GRCm39) C518Y probably damaging Het
Rangrf T A 11: 68,864,540 (GRCm39) E2V probably damaging Het
Rpl19 T C 11: 97,919,193 (GRCm39) I45T probably benign Het
Rtn4rl2 T C 2: 84,702,807 (GRCm39) D255G possibly damaging Het
Shld2 T C 14: 33,970,847 (GRCm39) K627E probably damaging Het
Sirt3 T C 7: 140,457,963 (GRCm39) D62G Het
Slc22a30 T C 19: 8,314,133 (GRCm39) T518A probably damaging Het
Slc40a1 T C 1: 45,950,466 (GRCm39) T329A probably damaging Het
Slc6a17 C T 3: 107,381,671 (GRCm39) G470D probably damaging Het
Syne2 A T 12: 76,044,181 (GRCm39) I3923L probably benign Het
Tiam2 C T 17: 3,471,591 (GRCm39) S411L probably benign Het
Ticam1 A G 17: 56,577,182 (GRCm39) C638R unknown Het
Tnrc6c A G 11: 117,648,912 (GRCm39) T1528A probably benign Het
Ufl1 A G 4: 25,262,274 (GRCm39) I404T probably benign Het
Usp43 A T 11: 67,782,294 (GRCm39) S375T possibly damaging Het
Vmn2r88 C G 14: 51,650,503 (GRCm39) A72G probably benign Het
Vmn2r91 A T 17: 18,330,311 (GRCm39) I532F possibly damaging Het
Vmn2r95 T C 17: 18,644,367 (GRCm39) M1T probably null Het
Xirp2 T C 2: 67,345,526 (GRCm39) V2589A probably benign Het
Zfp128 C T 7: 12,624,240 (GRCm39) Q203* probably null 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
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'- TCCCGCCTTAGTTTAAACCG -3'
(R):5'- GCCCTGTATGTTCCTGACAG -3'

Sequencing Primer
(F):5'- CCGCCTTAGTTTAAACCGGGAAG -3'
(R):5'- AGGCGGCACTAGCATCTAGTTG -3'
Posted On 2019-11-26