Incidental Mutation 'IGL01681:Nsmce3'
ID 103793
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01681
Quality Score
Status
Chromosome 7
Chromosomal Location 64521430-64522788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64522221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 149 (I149T)
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: I149T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091889
Gene: ENSMUSG00000070520
AA Change: I149T

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T A 18: 80,171,103 (GRCm39) E1102V probably damaging Het
Appl2 T A 10: 83,450,165 (GRCm39) I236F possibly damaging Het
Asb15 C A 6: 24,567,137 (GRCm39) T486K probably damaging Het
Bsdc1 T C 4: 129,359,141 (GRCm39) probably null Het
Cts8 G T 13: 61,401,433 (GRCm39) Q61K probably benign Het
Cyp2d34 C T 15: 82,501,332 (GRCm39) probably null Het
Dnah12 A G 14: 26,443,315 (GRCm39) T575A probably benign Het
Dync2h1 T C 9: 7,142,196 (GRCm39) probably null Het
Fam170a A G 18: 50,415,302 (GRCm39) D316G possibly damaging Het
Gtf2h3 T A 5: 124,732,854 (GRCm39) L216Q probably damaging Het
Heatr6 T A 11: 83,655,826 (GRCm39) S306T probably benign Het
Hey2 A G 10: 30,710,133 (GRCm39) S207P probably benign Het
Kng2 T A 16: 22,815,767 (GRCm39) probably benign Het
Lama2 C T 10: 27,141,041 (GRCm39) E653K probably benign Het
Lrrcc1 T C 3: 14,613,286 (GRCm39) V37A probably benign Het
Neb T C 2: 52,091,498 (GRCm39) D5085G probably damaging Het
Nexn T C 3: 151,949,507 (GRCm39) M321V possibly damaging Het
Oxct1 T G 15: 4,131,326 (GRCm39) S405A possibly damaging Het
Pdpr T A 8: 111,859,568 (GRCm39) N703K probably damaging Het
Scn10a A T 9: 119,523,143 (GRCm39) D83E probably damaging Het
Slc47a2 C T 11: 61,228,866 (GRCm39) A104T probably damaging Het
Slc4a2 A G 5: 24,639,185 (GRCm39) I393V probably damaging Het
Thoc6 A T 17: 23,888,857 (GRCm39) L184M possibly damaging Het
Tjp2 C T 19: 24,112,213 (GRCm39) probably null Het
Tmem63b A G 17: 45,974,497 (GRCm39) L591P probably damaging Het
Tnrc6b A G 15: 80,763,512 (GRCm39) probably null Het
Trmt5 G T 12: 73,329,377 (GRCm39) probably benign Het
Ubap1l T A 9: 65,281,201 (GRCm39) M293K probably benign Het
Yars1 A G 4: 129,099,935 (GRCm39) E211G probably damaging Het
Zbbx A C 3: 74,959,785 (GRCm39) Y595D probably damaging Het
Zc3h10 G A 10: 128,381,109 (GRCm39) Q83* probably null Het
Zcchc3 T C 2: 152,255,925 (GRCm39) N258S probably damaging Het
Other mutations in Nsmce3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Nsmce3 APN 7 64,522,382 (GRCm39) missense possibly damaging 0.46
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
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
Posted On 2014-01-21