Incidental Mutation 'R5845:Nsmce3'
Institutional Source Beutler Lab
Gene Symbol Nsmce3
Ensembl Gene ENSMUSG00000070520
Gene NameNSE3 homolog, SMC5-SMC6 complex component
SynonymsMageg1, 5730494G16Rik, HCA4, Ndnl2
MMRRC Submission 044063-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.439) question?
Stock #R5845 (G1)
Quality Score225
Status Validated
Chromosomal Location64867052-64872997 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 64872188 bp
Amino Acid Change Valine to Alanine at position 244 (V244A)
Ref Sequence ENSEMBL: ENSMUSP00000091889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094331] [ENSMUST00000119118] [ENSMUST00000148459] [ENSMUST00000149851]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094331
AA Change: V244A

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091889
Gene: ENSMUSG00000070520
AA Change: V244A

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

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

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

signal peptide 1 18 N/A INTRINSIC
low complexity region 147 163 N/A INTRINSIC
Meta Mutation Damage Score 0.1077 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency 97% (59/61)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,626,083 Y928N probably benign Het
Als2cr12 T A 1: 58,667,778 E243D possibly damaging Het
Amz2 T C 11: 109,433,929 F213S probably damaging Het
Cage1 T A 13: 38,015,706 S732C probably damaging Het
Ccnf C A 17: 24,240,793 D229Y possibly damaging Het
Cdon G T 9: 35,457,466 C332F probably damaging Het
Clca3b G A 3: 144,825,316 R758C possibly damaging Het
Cyp2ab1 C T 16: 20,312,332 R349H probably benign Het
Dock10 C T 1: 80,505,742 probably benign Het
Dock5 A T 14: 67,841,101 Y225N possibly damaging Het
Ear2 G A 14: 44,103,161 R92K probably benign Het
Eif3c T C 7: 126,564,755 S39G probably damaging Het
Eml3 A G 19: 8,939,218 D701G probably damaging Het
Fat3 G A 9: 16,377,210 T339I probably damaging Het
Fbn2 T C 18: 58,053,768 D1687G possibly damaging Het
Fcnb C T 2: 28,079,621 probably null Het
Fscb A G 12: 64,472,784 V636A unknown Het
Gm6124 A G 7: 39,219,875 noncoding transcript Het
Hectd4 T A 5: 121,307,524 probably null Het
Hrnr A T 3: 93,332,637 H3394L unknown Het
Hs1bp3 A G 12: 8,336,275 R226G probably benign Het
Ifngr2 T C 16: 91,555,059 V61A probably benign Het
Kcnk2 T C 1: 189,277,721 probably benign Het
Kmt2d G A 15: 98,852,109 probably benign Het
Lrmp G A 6: 145,171,666 M376I probably benign Het
Mgam T A 6: 40,675,323 N810K possibly damaging Het
Mis18a A G 16: 90,721,634 probably null Het
Olfr1129 T C 2: 87,576,023 I313T probably benign Het
Plxna4 A T 6: 32,237,776 V590D probably damaging Het
Prkab1 A T 5: 116,024,160 D30E probably benign Het
Rasgrp3 A T 17: 75,503,147 N281Y possibly damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Sept2 T A 1: 93,499,035 probably null Het
Slc26a6 T G 9: 108,862,083 V609G possibly damaging Het
Spta1 T A 1: 174,241,096 M2154K probably damaging Het
Stoml2 T G 4: 43,030,008 probably benign Het
Sult6b1 A C 17: 78,894,630 S148A probably damaging Het
Tmem131l A G 3: 83,940,553 V335A probably damaging Het
Tmem221 T A 8: 71,555,144 probably null Het
Tmem88 C G 11: 69,397,678 Q138H probably benign Het
Trpm8 T C 1: 88,328,180 Y186H probably benign Het
Trpv1 T C 11: 73,240,581 I7T probably damaging Het
Ttc34 T C 4: 154,865,472 S961P probably benign Het
Ubr1 T C 2: 120,904,005 D1138G probably benign Het
Ubr7 C T 12: 102,766,312 R188C probably damaging Het
Uspl1 C T 5: 149,193,960 P118S probably benign Het
Vdr C A 15: 97,869,766 E114D possibly damaging Het
Zfp853 C T 5: 143,288,669 V399M unknown Het
Zswim4 T A 8: 84,217,242 probably null Het
Other mutations in Nsmce3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Nsmce3 APN 7 64872634 missense possibly damaging 0.46
IGL01681:Nsmce3 APN 7 64872473 missense probably benign
R1273:Nsmce3 UTSW 7 64872591 missense probably benign 0.40
R3874:Nsmce3 UTSW 7 64872168 missense probably damaging 0.98
R4670:Nsmce3 UTSW 7 64872782 missense probably benign 0.00
R4671:Nsmce3 UTSW 7 64872782 missense probably benign 0.00
R8334:Nsmce3 UTSW 7 64872719 missense probably damaging 1.00
Z1177:Nsmce3 UTSW 7 64872809 missense possibly damaging 0.46
Predicted Primers PCR Primer

Sequencing Primer
Posted On2017-02-10