Incidental Mutation 'IGL01322:Smc2'
ID 74101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smc2
Ensembl Gene ENSMUSG00000028312
Gene Name structural maintenance of chromosomes 2
Synonyms 5730502P04Rik, CAP-E, Fin16, Smc2l1
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # IGL01322
Quality Score
Status
Chromosome 4
Chromosomal Location 52439243-52488260 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52450842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 220 (Y220C)
Ref Sequence ENSEMBL: ENSMUSP00000114228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102915] [ENSMUST00000117280] [ENSMUST00000142227]
AlphaFold Q8CG48
Predicted Effect probably damaging
Transcript: ENSMUST00000102915
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099979
Gene: ENSMUSG00000028312
AA Change: Y220C

DomainStartEndE-ValueType
internal_repeat_1 146 174 2.4e-6 PROSPERO
low complexity region 183 207 N/A INTRINSIC
coiled coil region 238 355 N/A INTRINSIC
coiled coil region 400 503 N/A INTRINSIC
SMC_hinge 520 640 3.8e-34 SMART
coiled coil region 676 880 N/A INTRINSIC
coiled coil region 984 1031 N/A INTRINSIC
PDB:4I99|B 1034 1186 3e-15 PDB
SCOP:d1e69a_ 1066 1144 2e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117280
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113940
Gene: ENSMUSG00000028312
AA Change: Y220C

DomainStartEndE-ValueType
Pfam:AAA_21 27 131 3.8e-6 PFAM
internal_repeat_1 146 174 2.4e-6 PROSPERO
low complexity region 183 207 N/A INTRINSIC
coiled coil region 238 355 N/A INTRINSIC
coiled coil region 400 503 N/A INTRINSIC
SMC_hinge 520 640 3.8e-34 SMART
coiled coil region 676 880 N/A INTRINSIC
coiled coil region 984 1031 N/A INTRINSIC
PDB:4I99|B 1034 1186 3e-15 PDB
SCOP:d1e69a_ 1066 1144 2e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131163
Predicted Effect probably damaging
Transcript: ENSMUST00000142227
AA Change: Y220C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114228
Gene: ENSMUSG00000028312
AA Change: Y220C

DomainStartEndE-ValueType
Pfam:SMC_N 2 351 2.3e-36 PFAM
Pfam:AAA_21 27 131 1.7e-8 PFAM
coiled coil region 400 471 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146787
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a component of both condensin I and condensin II complexes, and forms a heterodimer with structural maintenance of chromosome 4 (Smc4). This heterodimer is the catalytic subunit for both condensin complexes, and is involved in several processes, including chromosome condensation during mitosis and meiosis, cohesin removal during mitosis and meiosis, and single-strand break (SSB) repair. Reduced expression of this gene results in chromosome segregation defects during mitosis and meiosis, with a more severe defect observed in embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice die embryonically. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
B4gat1 T C 19: 5,090,037 (GRCm39) Y345H probably damaging Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Bcl7c T A 7: 127,306,608 (GRCm39) N93Y probably damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chek1 G A 9: 36,629,717 (GRCm39) Q210* probably null Het
Chrdl2 A G 7: 99,666,248 (GRCm39) Y56C probably damaging Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Gtf3c4 T C 2: 28,723,584 (GRCm39) D575G probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Kcnf1 T C 12: 17,225,349 (GRCm39) M291V probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Mcrs1 A T 15: 99,141,266 (GRCm39) I399N probably damaging Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or14c43 T A 7: 86,115,480 (GRCm39) I287N probably damaging Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Pnkd A G 1: 74,390,716 (GRCm39) N336D probably damaging Het
Prag1 T C 8: 36,571,088 (GRCm39) V557A probably benign Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T probably benign Het
Other mutations in Smc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02045:Smc2 APN 4 52,462,914 (GRCm39) missense probably benign 0.01
IGL03013:Smc2 APN 4 52,442,280 (GRCm39) missense probably damaging 1.00
IGL03031:Smc2 APN 4 52,449,638 (GRCm39) missense probably benign 0.35
IGL03246:Smc2 APN 4 52,440,301 (GRCm39) nonsense probably null
Janitor UTSW 4 52,478,448 (GRCm39) missense probably damaging 1.00
R0539:Smc2 UTSW 4 52,458,558 (GRCm39) missense probably benign 0.01
R0782:Smc2 UTSW 4 52,469,799 (GRCm39) missense probably benign 0.30
R1908:Smc2 UTSW 4 52,450,863 (GRCm39) missense probably damaging 0.97
R2054:Smc2 UTSW 4 52,462,948 (GRCm39) missense probably benign 0.00
R2109:Smc2 UTSW 4 52,474,987 (GRCm39) missense probably benign 0.00
R2318:Smc2 UTSW 4 52,446,030 (GRCm39) missense probably damaging 1.00
R2352:Smc2 UTSW 4 52,460,266 (GRCm39) missense probably benign
R3418:Smc2 UTSW 4 52,476,850 (GRCm39) splice site probably benign
R4003:Smc2 UTSW 4 52,462,897 (GRCm39) missense probably damaging 1.00
R4133:Smc2 UTSW 4 52,450,947 (GRCm39) missense probably damaging 0.99
R4299:Smc2 UTSW 4 52,440,238 (GRCm39) utr 5 prime probably benign
R4547:Smc2 UTSW 4 52,467,866 (GRCm39) missense probably benign 0.09
R4787:Smc2 UTSW 4 52,462,927 (GRCm39) missense probably damaging 0.98
R4816:Smc2 UTSW 4 52,451,231 (GRCm39) missense probably benign 0.00
R4829:Smc2 UTSW 4 52,449,612 (GRCm39) missense probably damaging 0.98
R4861:Smc2 UTSW 4 52,461,090 (GRCm39) missense probably benign 0.14
R4861:Smc2 UTSW 4 52,461,090 (GRCm39) missense probably benign 0.14
R4951:Smc2 UTSW 4 52,462,926 (GRCm39) missense possibly damaging 0.95
R4963:Smc2 UTSW 4 52,450,826 (GRCm39) missense probably damaging 1.00
R4996:Smc2 UTSW 4 52,461,042 (GRCm39) splice site probably null
R5028:Smc2 UTSW 4 52,458,447 (GRCm39) missense probably damaging 0.96
R5103:Smc2 UTSW 4 52,459,033 (GRCm39) missense probably damaging 1.00
R5159:Smc2 UTSW 4 52,460,181 (GRCm39) missense possibly damaging 0.65
R5387:Smc2 UTSW 4 52,475,096 (GRCm39) missense probably benign 0.16
R5697:Smc2 UTSW 4 52,459,045 (GRCm39) missense probably benign 0.01
R6006:Smc2 UTSW 4 52,459,024 (GRCm39) missense probably benign
R6246:Smc2 UTSW 4 52,460,289 (GRCm39) missense probably damaging 1.00
R6321:Smc2 UTSW 4 52,462,814 (GRCm39) missense probably benign
R6590:Smc2 UTSW 4 52,449,375 (GRCm39) missense probably benign 0.01
R6658:Smc2 UTSW 4 52,451,322 (GRCm39) missense probably benign 0.21
R6690:Smc2 UTSW 4 52,449,375 (GRCm39) missense probably benign 0.01
R7422:Smc2 UTSW 4 52,440,301 (GRCm39) missense probably benign 0.02
R7486:Smc2 UTSW 4 52,462,861 (GRCm39) missense possibly damaging 0.54
R7487:Smc2 UTSW 4 52,478,448 (GRCm39) missense probably damaging 1.00
R7532:Smc2 UTSW 4 52,451,013 (GRCm39) missense probably damaging 1.00
R7556:Smc2 UTSW 4 52,457,379 (GRCm39) missense probably benign 0.03
R7912:Smc2 UTSW 4 52,450,854 (GRCm39) missense probably benign 0.00
R7953:Smc2 UTSW 4 52,470,911 (GRCm39) critical splice donor site probably null
R7979:Smc2 UTSW 4 52,450,857 (GRCm39) missense probably damaging 1.00
R8343:Smc2 UTSW 4 52,450,965 (GRCm39) missense probably benign
R8344:Smc2 UTSW 4 52,449,376 (GRCm39) missense probably benign 0.01
R8495:Smc2 UTSW 4 52,450,992 (GRCm39) missense probably benign 0.00
R8880:Smc2 UTSW 4 52,462,856 (GRCm39) missense probably benign 0.00
R8988:Smc2 UTSW 4 52,475,100 (GRCm39) missense probably benign
R9201:Smc2 UTSW 4 52,446,044 (GRCm39) missense probably damaging 1.00
R9263:Smc2 UTSW 4 52,470,848 (GRCm39) missense possibly damaging 0.89
R9287:Smc2 UTSW 4 52,449,361 (GRCm39) missense probably damaging 1.00
R9534:Smc2 UTSW 4 52,462,870 (GRCm39) missense probably damaging 1.00
RF006:Smc2 UTSW 4 52,442,276 (GRCm39) missense probably benign 0.03
X0065:Smc2 UTSW 4 52,440,370 (GRCm39) missense probably damaging 1.00
Z1176:Smc2 UTSW 4 52,481,682 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07