Incidental Mutation 'IGL02546:Nsl1'
ID 297808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nsl1
Ensembl Gene ENSMUSG00000062510
Gene Name NSL1, MIS12 kinetochore complex component
Synonyms LOC381318, 4833432M17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # IGL02546
Quality Score
Status
Chromosome 1
Chromosomal Location 190794710-190816755 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 190803398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 156 (H156Q)
Ref Sequence ENSEMBL: ENSMUSP00000076220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076952] [ENSMUST00000078259] [ENSMUST00000139340]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000076952
AA Change: H156Q

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000076220
Gene: ENSMUSG00000062510
AA Change: H156Q

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: H156Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000077380
Gene: ENSMUSG00000062510
AA Change: H156Q

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 82 197 2.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139340
AA Change: H156Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115289
Gene: ENSMUSG00000062510
AA Change: H156Q

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:Mis14 67 171 7e-27 PFAM
Coding Region Coverage
Validation Efficiency
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
Akap6 G T 12: 52,927,521 (GRCm39) V144L probably damaging Het
Carmil1 A T 13: 24,299,482 (GRCm39) N347K probably damaging Het
Cyp4a32 A G 4: 115,468,520 (GRCm39) Y334C probably damaging Het
Dmxl2 C A 9: 54,273,698 (GRCm39) probably benign Het
Eps8 C T 6: 137,456,064 (GRCm39) A806T probably benign Het
Evl A G 12: 108,614,678 (GRCm39) N24S possibly damaging Het
Fbxo15 T C 18: 84,980,847 (GRCm39) probably null Het
Gm14179 A T 11: 99,634,019 (GRCm39) Het
Hepacam2 A G 6: 3,483,568 (GRCm39) V147A possibly damaging Het
Jmjd1c C A 10: 67,061,115 (GRCm39) P1156Q possibly damaging Het
Mab21l3 A T 3: 101,730,624 (GRCm39) V205E probably damaging Het
Mad2l1 T C 6: 66,512,951 (GRCm39) I28T probably damaging Het
Minar2 T A 18: 59,205,347 (GRCm39) M45K probably damaging Het
Mroh9 T A 1: 162,908,145 (GRCm39) I2F probably benign Het
Msr1 A T 8: 40,068,788 (GRCm39) I302K probably benign Het
Msrb3 C T 10: 120,685,906 (GRCm39) V80I possibly damaging Het
Ncf4 A G 15: 78,145,219 (GRCm39) D269G probably damaging Het
Nutm1 T C 2: 112,078,669 (GRCm39) D1082G probably benign Het
Or6c216 T A 10: 129,678,416 (GRCm39) D165V probably damaging Het
Or7g20 T A 9: 18,946,650 (GRCm39) V77D possibly damaging Het
Orc4 T C 2: 48,807,296 (GRCm39) I212V probably null Het
Pde6c A G 19: 38,128,488 (GRCm39) I184V probably benign Het
Pfkfb3 A T 2: 11,493,589 (GRCm39) F129Y probably damaging Het
Ppp3cb T C 14: 20,551,622 (GRCm39) D493G probably benign Het
Psg29 A G 7: 16,942,707 (GRCm39) Y236C probably damaging Het
Pzp C T 6: 128,471,662 (GRCm39) probably benign Het
Semp2l2b A T 10: 21,942,826 (GRCm39) W385R probably damaging Het
Sgf29 T A 7: 126,271,025 (GRCm39) V180E probably damaging Het
Sh3bp4 A G 1: 89,071,266 (GRCm39) probably benign Het
Slc39a2 A T 14: 52,132,620 (GRCm39) T188S probably benign Het
Slc6a13 G T 6: 121,310,323 (GRCm39) M327I probably benign Het
Slitrk6 T A 14: 110,987,226 (GRCm39) H827L probably benign Het
Thumpd2 T G 17: 81,361,884 (GRCm39) K114T probably benign Het
Tnfrsf19 A T 14: 61,210,987 (GRCm39) C234S possibly damaging Het
Tns2 A G 15: 102,019,375 (GRCm39) D446G probably damaging Het
Tpm4 A G 8: 72,898,547 (GRCm39) E137G probably damaging Het
Ttn G A 2: 76,625,901 (GRCm39) R13307C probably damaging Het
Ubqln3 A G 7: 103,791,725 (GRCm39) S122P probably benign Het
Ubr5 T C 15: 38,008,991 (GRCm39) D1080G probably benign Het
Ulk4 A T 9: 120,981,373 (GRCm39) L886* probably null Het
Unc80 T C 1: 66,594,112 (GRCm39) S1164P possibly damaging Het
Uspl1 T C 5: 149,141,114 (GRCm39) V371A possibly damaging Het
Virma T C 4: 11,494,804 (GRCm39) V35A probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp787 A T 7: 6,135,297 (GRCm39) I318N probably damaging Het
Other mutations in Nsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16