Incidental Mutation 'R1273:Nsmce3'
ID 151365
Institutional Source Beutler Lab
Gene Symbol Nsmce3
Ensembl Gene ENSMUSG00000070520
Gene Name NSE3 homolog, SMC5-SMC6 complex component
Synonyms HCA4, Mageg1, Ndnl2, 5730494G16Rik
MMRRC Submission 039339-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.456) question?
Stock # R1273 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 64521430-64522788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64522339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 110 (Y110H)
Ref Sequence ENSEMBL: ENSMUSP00000091889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094331] [ENSMUST00000119118] [ENSMUST00000148459] [ENSMUST00000149851]
AlphaFold Q9CPR8
Predicted Effect probably benign
Transcript: ENSMUST00000094331
AA Change: Y110H

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000091889
Gene: ENSMUSG00000070520
AA Change: Y110H

DomainStartEndE-ValueType
low complexity region 30 48 N/A INTRINSIC
MAGE 66 237 8.48e-93 SMART
low complexity region 265 279 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119118
SMART Domains Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518

DomainStartEndE-ValueType
Pfam:CD20 34 199 4.9e-33 PFAM
low complexity region 243 259 N/A INTRINSIC
low complexity region 356 374 N/A INTRINSIC
low complexity region 378 392 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148459
SMART Domains Protein: ENSMUSP00000116119
Gene: ENSMUSG00000030518

DomainStartEndE-ValueType
Pfam:CD20 34 162 1.8e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149851
SMART Domains Protein: ENSMUSP00000115095
Gene: ENSMUSG00000030518

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 147 163 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
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 part of the SMC5-6 chromatin reorganizing complex and is a member of the MAGE superfamily. This is an intronless gene. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,217,491 (GRCm39) K122E probably benign Het
Bltp1 T C 3: 37,041,359 (GRCm39) F2579S probably damaging Het
Dnah12 C T 14: 26,460,375 (GRCm39) Q934* probably null Het
Fsip2 G A 2: 82,819,752 (GRCm39) D5162N possibly damaging Het
Lrp6 A G 6: 134,444,470 (GRCm39) probably null Het
Mkx T G 18: 7,002,460 (GRCm39) T29P probably benign Het
Or8b42 T C 9: 38,341,980 (GRCm39) V134A probably benign Het
Saal1 A T 7: 46,342,366 (GRCm39) V359E probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tmprss11a T A 5: 86,562,447 (GRCm39) R299S probably benign Het
Other mutations in Nsmce3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Nsmce3 APN 7 64,522,382 (GRCm39) missense possibly damaging 0.46
IGL01681:Nsmce3 APN 7 64,522,221 (GRCm39) missense probably benign
R3874:Nsmce3 UTSW 7 64,521,916 (GRCm39) missense probably damaging 0.98
R4670:Nsmce3 UTSW 7 64,522,530 (GRCm39) missense probably benign 0.00
R4671:Nsmce3 UTSW 7 64,522,530 (GRCm39) missense probably benign 0.00
R5845:Nsmce3 UTSW 7 64,521,936 (GRCm39) missense possibly damaging 0.47
R8334:Nsmce3 UTSW 7 64,522,467 (GRCm39) missense probably damaging 1.00
Z1177:Nsmce3 UTSW 7 64,522,557 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- TCCCAGACCTCAGTCTCGGTGATG -3'
(R):5'- TAGCTATGAAGAGTCCCCGCCC -3'

Sequencing Primer
(F):5'- CGGTGATGGTGTTGCCTTTC -3'
(R):5'- TGGCTCCCAGTCGTATCG -3'
Posted On 2014-01-29