Incidental Mutation 'IGL01621:Smc1a'
ID 92616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smc1a
Ensembl Gene ENSMUSG00000041133
Gene Name structural maintenance of chromosomes 1A
Synonyms Smc1l1, Smc1, SB1.8, 5830426I24Rik, Smc1alpha, SMCB
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # IGL01621
Quality Score
Status
Chromosome X
Chromosomal Location 150799386-150844969 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 150819125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 647 (Q647K)
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 probably damaging
Transcript: ENSMUST00000045312
AA Change: Q647K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044645
Gene: ENSMUSG00000041133
AA Change: Q647K

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C T 5: 64,055,726 (GRCm39) T154I possibly damaging Het
4933434E20Rik T A 3: 89,971,809 (GRCm39) M56K possibly damaging Het
Abca6 A G 11: 110,075,534 (GRCm39) L1319S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aloxe3 A G 11: 69,020,839 (GRCm39) N188S probably benign Het
Ap1s1 G A 5: 137,070,658 (GRCm39) R119* probably null Het
Apc2 T G 10: 80,142,035 (GRCm39) L318R probably damaging Het
Atg101 A G 15: 101,184,976 (GRCm39) S33G possibly damaging Het
Atp8a2 A T 14: 60,253,317 (GRCm39) probably benign Het
Bpifb9b C A 2: 154,158,871 (GRCm39) probably null Het
Braf A T 6: 39,623,787 (GRCm39) probably benign Het
Cabp5 A G 7: 13,135,189 (GRCm39) D43G probably damaging Het
Cfap46 T C 7: 139,186,523 (GRCm39) N2462S unknown Het
Cit C T 5: 116,130,662 (GRCm39) probably benign Het
Cpa4 T C 6: 30,574,415 (GRCm39) V68A probably damaging Het
Cyp2j5 T C 4: 96,517,791 (GRCm39) I474V probably benign Het
Dennd1a C A 2: 37,734,821 (GRCm39) D49Y probably damaging Het
Dlg5 T C 14: 24,198,289 (GRCm39) D1525G probably damaging Het
Dnajc18 C T 18: 35,813,893 (GRCm39) R292H probably benign Het
Dync2h1 A G 9: 7,140,897 (GRCm39) probably null Het
E2f6 A G 12: 16,875,369 (GRCm39) D268G probably benign Het
Evi2b T A 11: 79,407,126 (GRCm39) T150S probably damaging Het
F13b A G 1: 139,431,589 (GRCm39) D53G probably benign Het
Fbxo38 G A 18: 62,655,595 (GRCm39) probably benign Het
Flnb C T 14: 7,950,470 (GRCm38) P2596L probably damaging Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Gm21759 A G 5: 8,229,775 (GRCm39) probably benign Het
Gtse1 A G 15: 85,759,283 (GRCm39) N597S probably benign Het
Hcn3 G T 3: 89,055,030 (GRCm39) S739Y probably damaging Het
Ighv9-4 T A 12: 114,263,612 (GRCm39) N107I probably damaging Het
Inava C A 1: 136,147,513 (GRCm39) A402S probably damaging Het
Iqub T C 6: 24,446,211 (GRCm39) K738E probably benign Het
Itga6 A T 2: 71,656,000 (GRCm39) D308V probably benign Het
Klf12 T C 14: 100,260,585 (GRCm39) Y48C probably damaging Het
Klhdc9 A G 1: 171,186,384 (GRCm39) *351Q probably null Het
Krt40 A T 11: 99,433,694 (GRCm39) N97K probably damaging Het
Lrit1 A C 14: 36,782,112 (GRCm39) T262P probably damaging Het
Mcoln1 T C 8: 3,560,910 (GRCm39) Y411H probably damaging Het
Mfsd4a A G 1: 131,981,881 (GRCm39) S149P probably benign Het
Minar2 A G 18: 59,195,458 (GRCm39) M1V probably null Het
Mipep A G 14: 61,033,614 (GRCm39) probably benign Het
Mslnl A G 17: 25,962,641 (GRCm39) probably benign Het
N4bp2 A T 5: 65,948,267 (GRCm39) H299L probably damaging Het
Nbn C T 4: 15,965,221 (GRCm39) P190S probably benign Het
Nos1 T A 5: 118,083,949 (GRCm39) I1253N probably damaging Het
Nup210 G T 6: 91,007,099 (GRCm39) F572L probably damaging Het
Or10k2 T C 8: 84,268,247 (GRCm39) V158A probably benign Het
Or1e30 T C 11: 73,678,103 (GRCm39) F113S probably damaging Het
Or2y11 T C 11: 49,442,964 (GRCm39) L130P probably damaging Het
P4htm T A 9: 108,460,935 (GRCm39) E106V probably damaging Het
Pcdhb20 C T 18: 37,637,860 (GRCm39) H129Y possibly damaging Het
Pdcd6ip T C 9: 113,514,490 (GRCm39) E240G probably benign Het
Pex5l T C 3: 33,069,110 (GRCm39) probably null Het
Plcd1 T C 9: 118,905,246 (GRCm39) N181S probably damaging Het
Plekhg6 G T 6: 125,349,062 (GRCm39) L412M probably damaging Het
Ppp1r13b T A 12: 111,801,526 (GRCm39) Q386L possibly damaging Het
Pramel25 T C 4: 143,520,502 (GRCm39) F85L probably benign Het
Prpf40b A G 15: 99,207,926 (GRCm39) probably benign Het
Rdh11 C T 12: 79,233,187 (GRCm39) probably null Het
Ripor3 A T 2: 167,839,172 (GRCm39) S110T probably damaging Het
Sec24d G A 3: 123,087,807 (GRCm39) probably null Het
Secisbp2l T C 2: 125,615,131 (GRCm39) S165G probably benign Het
Shank1 C T 7: 43,991,889 (GRCm39) A698V unknown Het
Shank1 T C 7: 44,001,023 (GRCm39) M914T unknown Het
Slc22a3 T C 17: 12,677,379 (GRCm39) Q263R probably benign Het
Sohlh1 A G 2: 25,736,873 (GRCm39) probably benign Het
Tacc2 C A 7: 130,331,498 (GRCm39) T484K probably damaging Het
Ubr4 G T 4: 139,168,094 (GRCm39) E2825* probably null Het
Wbp2nl G A 15: 82,192,806 (GRCm39) M163I probably benign Het
Zfp69 T A 4: 120,788,697 (GRCm39) K206M probably damaging Het
Zswim3 G A 2: 164,663,440 (GRCm39) R640H probably damaging Het
Other mutations in Smc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02385:Smc1a APN X 150,820,655 (GRCm39) missense possibly damaging 0.67
R2421:Smc1a UTSW X 150,830,971 (GRCm39) splice site probably benign
R2422:Smc1a UTSW X 150,830,971 (GRCm39) splice site probably benign
R2939:Smc1a UTSW X 150,816,695 (GRCm39) missense probably damaging 1.00
R2940:Smc1a UTSW X 150,816,695 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09