Incidental Mutation 'IGL02629:Smc4'
ID 301205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smc4
Ensembl Gene ENSMUSG00000034349
Gene Name structural maintenance of chromosomes 4
Synonyms Smc4l1, 2500002A22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # IGL02629
Quality Score
Status
Chromosome 3
Chromosomal Location 68912071-68941956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 68933206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 609 (C609F)
Ref Sequence ENSEMBL: ENSMUSP00000103433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042901] [ENSMUST00000107803] [ENSMUST00000148385] [ENSMUST00000195525]
AlphaFold Q8CG47
Predicted Effect possibly damaging
Transcript: ENSMUST00000042901
AA Change: C634F

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349
AA Change: C634F

DomainStartEndE-ValueType
PDB:1W1W|D 89 238 1e-17 PDB
Blast:AAA 104 238 3e-6 BLAST
low complexity region 408 427 N/A INTRINSIC
low complexity region 447 460 N/A INTRINSIC
low complexity region 473 482 N/A INTRINSIC
low complexity region 545 567 N/A INTRINSIC
SMC_hinge 611 726 1.12e-31 SMART
low complexity region 870 881 N/A INTRINSIC
low complexity region 942 953 N/A INTRINSIC
Blast:AAA 1102 1276 5e-26 BLAST
PDB:3KTA|D 1125 1276 3e-30 PDB
SCOP:d1e69a_ 1188 1263 3e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107803
AA Change: C609F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349
AA Change: C609F

DomainStartEndE-ValueType
Pfam:AAA_23 59 329 1.3e-12 PFAM
Pfam:AAA_21 81 199 5.2e-7 PFAM
coiled coil region 369 482 N/A INTRINSIC
coiled coil region 511 563 N/A INTRINSIC
SMC_hinge 586 701 8.6e-36 SMART
Pfam:SMC_N 738 1247 1.1e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128118
Predicted Effect probably benign
Transcript: ENSMUST00000148385
Predicted Effect unknown
Transcript: ENSMUST00000149174
AA Change: C69F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194693
Predicted Effect probably benign
Transcript: ENSMUST00000195525
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,445,006 (GRCm39) probably benign Het
Aadacl3 A G 4: 144,190,199 (GRCm39) I34T possibly damaging Het
Acan T A 7: 78,761,727 (GRCm39) I1979N possibly damaging Het
Ankrd27 A G 7: 35,325,121 (GRCm39) D701G probably benign Het
Arhgap31 C T 16: 38,429,526 (GRCm39) G450S probably benign Het
Braf T C 6: 39,665,233 (GRCm39) E45G possibly damaging Het
Btnl6 C T 17: 34,733,442 (GRCm39) V178M probably damaging Het
Capg A T 6: 72,532,737 (GRCm39) Q67L probably benign Het
Carmil3 A G 14: 55,736,525 (GRCm39) N663S probably damaging Het
Casz1 T A 4: 149,028,848 (GRCm39) S1098T probably benign Het
Cd55b A T 1: 130,347,535 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cenpf A G 1: 189,384,531 (GRCm39) L2583P probably damaging Het
Clec4a1 A C 6: 122,909,106 (GRCm39) probably null Het
Corin T C 5: 72,490,016 (GRCm39) N653S probably damaging Het
Dhx36 T C 3: 62,414,155 (GRCm39) E69G probably benign Het
Dpy19l1 C A 9: 24,350,009 (GRCm39) probably benign Het
Fam184a T C 10: 53,574,907 (GRCm39) N234S possibly damaging Het
Foxg1 A G 12: 49,432,331 (GRCm39) S355G probably benign Het
Fsd1l T C 4: 53,686,417 (GRCm39) S277P probably damaging Het
Hadh T A 3: 131,029,284 (GRCm39) D245V probably damaging Het
Jag2 G A 12: 112,878,134 (GRCm39) probably benign Het
Klhl18 A T 9: 110,259,006 (GRCm39) probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Mcoln2 A G 3: 145,875,799 (GRCm39) Y89C probably benign Het
Mug1 A T 6: 121,817,024 (GRCm39) Y31F possibly damaging Het
Ndufb5 A G 3: 32,791,348 (GRCm39) T32A probably benign Het
Nub1 C T 5: 24,908,462 (GRCm39) H404Y possibly damaging Het
Nudt6 A G 3: 37,459,320 (GRCm39) Y222H probably benign Het
Or4x6 A T 2: 89,949,201 (GRCm39) L247* probably null Het
Pla2g4c A T 7: 13,069,302 (GRCm39) R159* probably null Het
Pnpla7 A G 2: 24,940,957 (GRCm39) D1103G probably damaging Het
Pof1b T G X: 111,554,934 (GRCm39) probably benign Het
Prrg2 C T 7: 44,706,166 (GRCm39) probably null Het
Rab3gap1 A G 1: 127,837,600 (GRCm39) T221A probably benign Het
Rfx7 A G 9: 72,526,541 (GRCm39) N1244D probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf123 A T 9: 107,947,988 (GRCm39) probably benign Het
Rnf44 T G 13: 54,830,875 (GRCm39) Q207P possibly damaging Het
Serpina3g A G 12: 104,207,437 (GRCm39) D200G probably damaging Het
Slc5a4a T A 10: 75,983,413 (GRCm39) S17T unknown Het
Sync T C 4: 129,187,744 (GRCm39) F259L probably damaging Het
Tas2r113 T C 6: 132,870,299 (GRCm39) L109P probably damaging Het
Tjp2 C A 19: 24,099,743 (GRCm39) probably benign Het
Tmem30a C A 9: 79,683,531 (GRCm39) probably benign Het
Unc80 T C 1: 66,522,476 (GRCm39) V226A possibly damaging Het
Upk2 A T 9: 44,365,436 (GRCm39) L44Q probably damaging Het
Usp42 T C 5: 143,708,909 (GRCm39) Y203C possibly damaging Het
Vmn1r28 A T 6: 58,242,801 (GRCm39) I215F probably benign Het
Zswim2 A G 2: 83,755,553 (GRCm39) V116A possibly damaging Het
Other mutations in Smc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Smc4 APN 3 68,937,712 (GRCm39) missense probably damaging 0.98
IGL00542:Smc4 APN 3 68,935,771 (GRCm39) splice site probably benign
IGL01104:Smc4 APN 3 68,934,917 (GRCm39) missense possibly damaging 0.95
IGL01380:Smc4 APN 3 68,933,161 (GRCm39) missense probably damaging 1.00
IGL01397:Smc4 APN 3 68,938,877 (GRCm39) missense probably benign
IGL02441:Smc4 APN 3 68,913,544 (GRCm39) missense probably damaging 1.00
IGL03220:Smc4 APN 3 68,916,875 (GRCm39) missense possibly damaging 0.67
pyrrhic UTSW 3 68,934,835 (GRCm39) missense probably damaging 1.00
R0452:Smc4 UTSW 3 68,915,361 (GRCm39) nonsense probably null
R0523:Smc4 UTSW 3 68,933,221 (GRCm39) missense probably damaging 1.00
R0568:Smc4 UTSW 3 68,929,794 (GRCm39) critical splice donor site probably null
R0571:Smc4 UTSW 3 68,931,622 (GRCm39) missense probably damaging 1.00
R0602:Smc4 UTSW 3 68,916,871 (GRCm39) missense probably damaging 1.00
R0925:Smc4 UTSW 3 68,913,548 (GRCm39) critical splice donor site probably benign
R0963:Smc4 UTSW 3 68,933,259 (GRCm39) missense probably damaging 1.00
R1540:Smc4 UTSW 3 68,924,105 (GRCm39) missense probably damaging 1.00
R1755:Smc4 UTSW 3 68,941,441 (GRCm39) missense probably damaging 1.00
R1920:Smc4 UTSW 3 68,940,401 (GRCm39) missense probably damaging 1.00
R4226:Smc4 UTSW 3 68,938,800 (GRCm39) missense probably benign 0.01
R4510:Smc4 UTSW 3 68,923,980 (GRCm39) splice site probably null
R4511:Smc4 UTSW 3 68,923,980 (GRCm39) splice site probably null
R4899:Smc4 UTSW 3 68,939,144 (GRCm39) missense probably damaging 0.97
R4967:Smc4 UTSW 3 68,925,572 (GRCm39) intron probably benign
R5096:Smc4 UTSW 3 68,928,612 (GRCm39) missense probably damaging 1.00
R5101:Smc4 UTSW 3 68,935,845 (GRCm39) missense probably benign 0.00
R5588:Smc4 UTSW 3 68,933,190 (GRCm39) missense probably benign
R5631:Smc4 UTSW 3 68,937,645 (GRCm39) missense probably benign 0.16
R5633:Smc4 UTSW 3 68,915,443 (GRCm39) missense probably damaging 1.00
R6229:Smc4 UTSW 3 68,937,580 (GRCm39) nonsense probably null
R6300:Smc4 UTSW 3 68,935,224 (GRCm39) missense probably benign 0.00
R6554:Smc4 UTSW 3 68,936,848 (GRCm39) missense probably benign 0.00
R6596:Smc4 UTSW 3 68,933,226 (GRCm39) missense probably damaging 1.00
R6603:Smc4 UTSW 3 68,929,794 (GRCm39) critical splice donor site probably null
R6682:Smc4 UTSW 3 68,914,574 (GRCm39) missense probably damaging 0.98
R6727:Smc4 UTSW 3 68,924,105 (GRCm39) missense probably damaging 1.00
R6955:Smc4 UTSW 3 68,931,642 (GRCm39) missense possibly damaging 0.95
R7037:Smc4 UTSW 3 68,925,528 (GRCm39) missense possibly damaging 0.67
R7051:Smc4 UTSW 3 68,934,835 (GRCm39) missense probably damaging 1.00
R7454:Smc4 UTSW 3 68,925,457 (GRCm39) missense probably benign
R7630:Smc4 UTSW 3 68,925,400 (GRCm39) critical splice acceptor site probably benign
R7632:Smc4 UTSW 3 68,925,400 (GRCm39) critical splice acceptor site probably benign
R7633:Smc4 UTSW 3 68,925,400 (GRCm39) critical splice acceptor site probably benign
R7773:Smc4 UTSW 3 68,923,496 (GRCm39) missense probably damaging 1.00
R7857:Smc4 UTSW 3 68,940,552 (GRCm39) missense possibly damaging 0.61
R8008:Smc4 UTSW 3 68,914,645 (GRCm39) missense probably damaging 0.99
R8398:Smc4 UTSW 3 68,933,184 (GRCm39) missense probably damaging 1.00
R8527:Smc4 UTSW 3 68,940,224 (GRCm39) critical splice donor site probably null
R8936:Smc4 UTSW 3 68,925,491 (GRCm39) missense probably benign 0.21
R8998:Smc4 UTSW 3 68,934,894 (GRCm39) utr 3 prime probably benign
R9267:Smc4 UTSW 3 68,941,786 (GRCm39) missense probably damaging 1.00
R9440:Smc4 UTSW 3 68,915,455 (GRCm39) critical splice donor site probably null
R9476:Smc4 UTSW 3 68,914,662 (GRCm39) missense probably damaging 1.00
R9510:Smc4 UTSW 3 68,914,662 (GRCm39) missense probably damaging 1.00
R9777:Smc4 UTSW 3 68,929,655 (GRCm39) nonsense probably null
X0063:Smc4 UTSW 3 68,925,436 (GRCm39) missense possibly damaging 0.47
Posted On 2015-04-16