Incidental Mutation 'IGL02385:Smc1a'
ID 291521
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smc1a
Ensembl Gene ENSMUSG00000041133
Gene Name structural maintenance of chromosomes 1A
Synonyms Smc1alpha, SB1.8, 5830426I24Rik, Smc1l1, Smc1, SMCB
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL02385
Quality Score
Chromosome X
Chromosomal Location 152016428-152062694 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152037659 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 794 (E794D)
Ref Sequence ENSEMBL: ENSMUSP00000044645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045312] [ENSMUST00000145518]
AlphaFold Q9CU62
PDB Structure SMC hinge heterodimer (Mouse) [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045312
AA Change: E794D

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044645
Gene: ENSMUSG00000041133
AA Change: E794D

Pfam:AAA_29 4 57 6.7e-10 PFAM
Pfam:AAA_23 7 299 8.3e-15 PFAM
low complexity region 347 361 N/A INTRINSIC
SMC_hinge 513 629 5.39e-34 SMART
low complexity region 673 687 N/A INTRINSIC
low complexity region 951 967 N/A INTRINSIC
low complexity region 1045 1061 N/A INTRINSIC
PDB:1W1W|D 1062 1223 2e-40 PDB
Blast:AAA 1070 1222 3e-25 BLAST
SCOP:d1e69a_ 1119 1208 5e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135172
Predicted Effect probably benign
Transcript: ENSMUST00000145518
SMART Domains Protein: ENSMUSP00000138113
Gene: ENSMUSG00000041133

Pfam:SMC_N 3 43 6.1e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a disruption in this gene display increased chromosomal instability, decreased cell survival, and defective S-phase checkpoint after ionizing radiation exposure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,154,856 D351E probably damaging Het
4930452B06Rik A G 14: 8,510,920 V498A possibly damaging Het
Adad2 A G 8: 119,615,034 probably benign Het
Adamts8 A G 9: 30,961,730 N744D probably benign Het
Atad5 C T 11: 80,094,627 T180I probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bcl9 A T 3: 97,209,278 I700K probably benign Het
Bcr T C 10: 75,145,403 S685P probably damaging Het
Cd36 A G 5: 17,814,719 V128A probably benign Het
Chd2 T C 7: 73,435,822 Y1688C probably damaging Het
Csmd1 A G 8: 15,903,275 V3402A probably benign Het
Dsg3 T C 18: 20,527,714 V370A probably damaging Het
Dus4l A G 12: 31,640,675 probably benign Het
Fcrlb A G 1: 170,907,599 S320P probably damaging Het
Fer1l4 T C 2: 156,045,428 D616G probably benign Het
Fxr2 C T 11: 69,652,269 R631C possibly damaging Het
Gltpd2 T A 11: 70,519,996 F152I probably damaging Het
Gpt2 T A 8: 85,516,153 probably null Het
Hsd3b6 A T 3: 98,806,572 I137K possibly damaging Het
Kcna6 A G 6: 126,738,954 V324A probably benign Het
Kcnu1 C T 8: 25,932,270 L188F probably damaging Het
Kdm1b A G 13: 47,068,506 I474V possibly damaging Het
Kifap3 C T 1: 163,865,444 Q602* probably null Het
Lrp4 T A 2: 91,474,720 C231S possibly damaging Het
Lrrc63 T C 14: 75,086,200 D528G probably benign Het
Nosip C A 7: 45,076,732 R240S possibly damaging Het
Olfr1287 A G 2: 111,449,350 D70G probably damaging Het
Olfr1308 G A 2: 111,960,258 P272S probably benign Het
Olfr742 T C 14: 50,515,443 S80P probably damaging Het
Orc5 A T 5: 22,526,440 D231E probably damaging Het
Poli A T 18: 70,526,574 M62K possibly damaging Het
Ppp1r13b A C 12: 111,835,043 S402R probably damaging Het
Prl3b1 T C 13: 27,249,383 S174P possibly damaging Het
Ptpra T C 2: 130,540,473 probably benign Het
Sfpq T A 4: 127,026,136 probably null Het
Sh3bp1 T A 15: 78,905,888 probably benign Het
Slc7a2 T G 8: 40,899,011 V37G probably damaging Het
Sox6 T C 7: 115,550,039 R366G possibly damaging Het
Spaca7 A G 8: 12,586,498 N108S possibly damaging Het
Spon1 T G 7: 113,766,330 M1R probably null Het
Sult6b2 T C 6: 142,801,772 R84G probably benign Het
Syt2 A G 1: 134,745,815 N299S probably benign Het
Syvn1 T C 19: 6,048,540 V104A probably damaging Het
Tbpl1 A G 10: 22,707,669 L134P probably damaging Het
Tex11 A T X: 100,876,529 probably benign Het
Tnfrsf21 A G 17: 43,040,051 S369G probably damaging Het
Tram1l1 T C 3: 124,322,058 V289A probably benign Het
Ttyh3 A T 5: 140,633,305 F277L probably benign Het
Vmn2r17 T G 5: 109,434,381 N545K probably damaging Het
Wdr20 A T 12: 110,793,223 H181L probably benign Het
Zscan20 A G 4: 128,604,599 M2T possibly damaging Het
Other mutations in Smc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Smc1a APN X 152036129 missense probably damaging 1.00
R2421:Smc1a UTSW X 152047975 splice site probably benign
R2422:Smc1a UTSW X 152047975 splice site probably benign
R2939:Smc1a UTSW X 152033699 missense probably damaging 1.00
R2940:Smc1a UTSW X 152033699 missense probably damaging 1.00
Posted On 2015-04-16