Incidental Mutation 'R4671:Nsmce3'
ID 348435
Institutional Source Beutler Lab
Gene Symbol Nsmce3
Ensembl Gene ENSMUSG00000070520
Gene Name NSE3 homolog, SMC5-SMC6 complex component
Synonyms HCA4, Mageg1, Ndnl2, 5730494G16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.456) question?
Stock # R4671 (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 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: 97.3%
  • 20x: 95.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,789,157 (GRCm39) S271P probably benign Het
Acod1 T G 14: 103,284,508 (GRCm39) M2R probably benign Het
Adamts20 T C 15: 94,301,206 (GRCm39) E106G possibly damaging Het
Adgra3 G A 5: 50,136,710 (GRCm39) T661M probably damaging Het
Akap13 T A 7: 75,229,312 (GRCm39) C161* probably null Het
Akr1c12 A C 13: 4,323,816 (GRCm39) S162A possibly damaging Het
Anks1 C A 17: 28,270,552 (GRCm39) H805N probably benign Het
Arhgap22 T C 14: 33,084,500 (GRCm39) C260R probably damaging Het
Banf1 T C 19: 5,415,872 (GRCm39) R33G probably benign Het
Bcas1 T C 2: 170,226,245 (GRCm39) K310R probably damaging Het
Cacna1c G T 6: 118,629,019 (GRCm39) H1240N probably damaging Het
Cartpt C T 13: 100,036,588 (GRCm39) probably null Het
Ccdc127 T A 13: 74,505,164 (GRCm39) Y237* probably null Het
Ccnb1ip1 A T 14: 51,029,734 (GRCm39) Y109* probably null Het
Cenpj A T 14: 56,790,840 (GRCm39) V403E possibly damaging Het
Cps1 A G 1: 67,235,719 (GRCm39) Y951C probably damaging Het
Dcakd T C 11: 102,890,634 (GRCm39) E51G possibly damaging Het
Dennd4a A T 9: 64,801,689 (GRCm39) N944I probably benign Het
Dus3l C T 17: 57,075,566 (GRCm39) R430C probably benign Het
Dync2h1 A G 9: 7,169,640 (GRCm39) L279P possibly damaging Het
Dzip3 G A 16: 48,799,953 (GRCm39) Q112* probably null Het
Eif1ad T A 19: 5,418,219 (GRCm39) M1K probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fancg T C 4: 43,005,272 (GRCm39) E366G probably benign Het
Gin1 C T 1: 97,712,565 (GRCm39) P154S probably damaging Het
Gm11938 A T 11: 99,493,832 (GRCm39) C88S possibly damaging Het
Gpr183 T C 14: 122,192,149 (GRCm39) D124G probably damaging Het
Gucy2g T A 19: 55,226,500 (GRCm39) I139F probably damaging Het
Iqub A T 6: 24,479,183 (GRCm39) M453K probably benign Het
Jcad A G 18: 4,674,175 (GRCm39) T646A probably benign Het
Kif23 A T 9: 61,852,641 (GRCm39) D24E probably benign Het
Kmt2c T C 5: 25,571,175 (GRCm39) N845S probably damaging Het
Lhx5 G A 5: 120,578,032 (GRCm39) S284N probably benign Het
Lipf T G 19: 33,954,076 (GRCm39) V389G possibly damaging Het
Lrrc7 C T 3: 157,908,132 (GRCm39) probably null Het
Magi1 A G 6: 93,657,768 (GRCm39) probably null Het
Mast2 A G 4: 116,165,847 (GRCm39) S1287P probably damaging Het
Mepce C T 5: 137,784,905 (GRCm39) probably benign Het
Mkrn1 A G 6: 39,382,691 (GRCm39) V173A probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Naip6 A G 13: 100,431,239 (GRCm39) probably null Het
Or1n2 G A 2: 36,797,405 (GRCm39) C149Y probably benign Het
Or2j6 T G 7: 139,980,218 (GRCm39) Y247S probably damaging Het
Or4k44 A T 2: 111,368,280 (GRCm39) M118K probably damaging Het
Or51e2 A G 7: 102,391,808 (GRCm39) V134A probably damaging Het
Or56a3b T C 7: 104,771,513 (GRCm39) L283P probably damaging Het
Parp14 A G 16: 35,678,691 (GRCm39) F426L probably benign Het
Pcf11 A T 7: 92,306,737 (GRCm39) S1144T possibly damaging Het
Prpf3 T A 3: 95,758,976 (GRCm39) T59S possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptk7 A G 17: 46,885,392 (GRCm39) V678A probably benign Het
Rb1 A G 14: 73,511,116 (GRCm39) L331S probably damaging Het
Relch A G 1: 105,646,584 (GRCm39) I637V probably benign Het
Sell A G 1: 163,893,042 (GRCm39) Y86C probably damaging Het
Serpina1e G A 12: 103,914,341 (GRCm39) R328W probably damaging Het
Sertad3 T G 7: 27,176,091 (GRCm39) L175R possibly damaging Het
Stard9 G T 2: 120,529,121 (GRCm39) G1793W probably damaging Het
Stra6 T C 9: 58,056,517 (GRCm39) I383T probably benign Het
Tcf7l1 A G 6: 72,626,161 (GRCm39) L154P probably damaging Het
Tent5c C A 3: 100,380,515 (GRCm39) L80F probably benign Het
Tonsl A T 15: 76,507,610 (GRCm39) D55E probably benign Het
Ttc21b A G 2: 66,057,257 (GRCm39) S572P possibly damaging Het
Ttc7 T A 17: 87,654,048 (GRCm39) L575Q probably damaging Het
Ubl4b C T 3: 107,462,194 (GRCm39) S22N probably damaging Het
Ubr4 T C 4: 139,163,502 (GRCm39) V2634A possibly damaging Het
Zbed6 A G 1: 133,584,778 (GRCm39) V853A probably benign Het
Zfp46 A C 4: 136,017,484 (GRCm39) D106A probably damaging Het
Zfp951 A C 5: 104,962,567 (GRCm39) I333S 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
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
R4670: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'- AGCTTCAGAAGGTTGGGGTAC -3'
(R):5'- TAGCTATGAAGAGTCCCCGC -3'

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