Incidental Mutation 'R4670:Nsmce3'
ID 348360
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 041926-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.456) question?
Stock # R4670 (G1)
Quality Score 179
Status Validated
Chromosome 7
Chromosomal Location 64521430-64522788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64522530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 46 (L46Q)
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: L46Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000091889
Gene: ENSMUSG00000070520
AA Change: L46Q

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (69/71)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 T A 7: 119,130,983 (GRCm39) probably null Het
Alb T A 5: 90,610,665 (GRCm39) S82T probably benign Het
Arf4 A G 14: 26,374,248 (GRCm39) probably benign Het
Arhgap22 T C 14: 33,084,500 (GRCm39) C260R probably damaging Het
Arhgap32 A G 9: 32,081,441 (GRCm39) E153G probably benign Het
Arhgef18 T A 8: 3,484,897 (GRCm39) M200K probably damaging Het
Atp1a4 T A 1: 172,062,567 (GRCm39) N647Y probably benign Het
Atp5f1c A T 2: 10,064,428 (GRCm39) L226Q probably damaging Het
Bcas1 T C 2: 170,226,245 (GRCm39) K310R probably damaging Het
Cadm3 T A 1: 173,174,013 (GRCm39) T67S probably damaging Het
Cartpt C T 13: 100,036,588 (GRCm39) probably null Het
Cenpj A T 14: 56,790,840 (GRCm39) V403E possibly damaging Het
Chst7 C A X: 19,927,110 (GRCm39) R386S probably damaging Het
Cyp4f37 A T 17: 32,844,126 (GRCm39) M77L probably benign Het
Dnah7b A T 1: 46,117,684 (GRCm39) D50V probably damaging Het
Galnt4 A G 10: 98,945,160 (GRCm39) D295G possibly damaging Het
Gin1 C T 1: 97,712,565 (GRCm39) P154S probably damaging Het
Gm6471 G A 7: 142,385,360 (GRCm39) noncoding transcript Het
Gm6818 T A 7: 38,101,981 (GRCm39) noncoding transcript Het
Gm9271 T A 7: 39,013,734 (GRCm39) noncoding transcript Het
Gpam A G 19: 55,084,551 (GRCm39) probably null Het
Gpr183 T C 14: 122,192,149 (GRCm39) D124G probably damaging Het
Ift140 C A 17: 25,317,935 (GRCm39) probably benign Het
Itih5 A C 2: 10,195,180 (GRCm39) I191L probably benign Het
Jcad A G 18: 4,674,175 (GRCm39) T646A probably benign Het
Kank1 T C 19: 25,387,944 (GRCm39) M511T probably benign Het
Krt74 A T 15: 101,667,304 (GRCm39) noncoding transcript Het
Lrrc37a A G 11: 103,395,363 (GRCm39) S21P probably benign Het
Lrrc8c G A 5: 105,756,240 (GRCm39) V672I probably benign Het
Lypd4 T C 7: 24,566,151 (GRCm39) R58G probably benign Het
Magi1 A T 6: 93,663,624 (GRCm39) probably null Het
Mefv T A 16: 3,526,071 (GRCm39) L745F possibly damaging Het
Myh13 A T 11: 67,255,564 (GRCm39) K1645* probably null Het
Naip6 A G 13: 100,431,239 (GRCm39) probably null Het
Nlrp1c-ps T C 11: 71,171,382 (GRCm39) noncoding transcript Het
Or51aa2 A G 7: 103,188,393 (GRCm39) V16A possibly damaging Het
Or6k6 T A 1: 173,945,427 (GRCm39) M52L probably benign Het
Or8k37 T C 2: 86,469,512 (GRCm39) D180G possibly damaging Het
P2ry12 T C 3: 59,125,325 (GRCm39) probably null Het
Pcx T A 19: 4,669,916 (GRCm39) V861E probably damaging Het
Pkp3 C T 7: 140,662,612 (GRCm39) P75S probably benign Het
Plscr4 T C 9: 92,364,920 (GRCm39) probably null Het
Pole A G 5: 110,454,253 (GRCm39) T923A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rhot2 A C 17: 26,060,305 (GRCm39) probably benign Het
Rsrp1 A G 4: 134,651,488 (GRCm39) Y84C unknown Het
Sbf2 T C 7: 109,934,606 (GRCm39) K1348E probably damaging Het
Sgip1 A T 4: 102,726,951 (GRCm39) N53Y probably damaging Het
Snapc2 A G 8: 4,304,998 (GRCm39) T127A possibly damaging Het
Snx8 A G 5: 140,341,713 (GRCm39) probably null Het
Spag8 A G 4: 43,653,378 (GRCm39) probably benign Het
Srebf2 T C 15: 82,076,503 (GRCm39) F718L probably damaging Het
Szt2 C G 4: 118,233,026 (GRCm39) probably benign Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Tubgcp4 T A 2: 121,004,146 (GRCm39) Y62* probably null Het
Usp29 T A 7: 6,965,914 (GRCm39) S586T possibly damaging Het
Vasp T C 7: 18,998,350 (GRCm39) N108S probably benign Het
Vmn1r214 A G 13: 23,219,141 (GRCm39) M212V probably benign Het
Wipi2 G C 5: 142,645,345 (GRCm39) A194P probably benign Het
Zbtb4 T A 11: 69,667,355 (GRCm39) I220N probably damaging Het
Zcchc2 A T 1: 105,917,996 (GRCm39) probably benign Het
Zfp729a T A 13: 67,769,534 (GRCm39) K232* probably null Het
Zfp995 A T 17: 22,106,320 (GRCm39) M1K probably null 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
R1273:Nsmce3 UTSW 7 64,522,339 (GRCm39) missense probably benign 0.40
R3874:Nsmce3 UTSW 7 64,521,916 (GRCm39) missense probably damaging 0.98
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'- CTTCAGAAGGTTGGGGTACACG -3'
(R):5'- TAGCTATGAAGAGTCCCCGC -3'

Sequencing Primer
(F):5'- TACACGTCCCGGTAGTCG -3'
(R):5'- TGGCTCCCAGTCGTATCG -3'
Posted On 2015-10-08