Incidental Mutation 'IGL01104:Smc4'
ID 50742
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 # IGL01104
Quality Score
Status
Chromosome 3
Chromosomal Location 68912071-68941956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68934917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 677 (I677T)
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: I702T

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349
AA Change: I702T

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 possibly damaging
Transcript: ENSMUST00000107803
AA Change: I677T

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349
AA Change: I677T

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 probably benign
Transcript: ENSMUST00000149174
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T A 1: 89,653,797 (GRCm39) probably benign Het
AU015836 A T X: 93,015,493 (GRCm39) D15V probably damaging Het
Capns2 G T 8: 93,628,383 (GRCm39) D91Y probably damaging Het
Chd6 C T 2: 160,803,847 (GRCm39) R2071Q probably damaging Het
Col4a4 G T 1: 82,444,266 (GRCm39) P1334T unknown Het
Dusp12 T G 1: 170,702,042 (GRCm39) H319P probably damaging Het
Emilin3 A T 2: 160,751,703 (GRCm39) V112E probably damaging Het
Eya3 T A 4: 132,439,240 (GRCm39) F455L probably damaging Het
F10 G A 8: 13,105,686 (GRCm39) G417D probably damaging Het
Fat3 A C 9: 16,287,024 (GRCm39) V833G possibly damaging Het
Fat3 A T 9: 15,909,756 (GRCm39) L2082H probably damaging Het
Golga5 T A 12: 102,460,073 (GRCm39) M667K probably damaging Het
Gpr50 T A X: 70,710,833 (GRCm39) L305H probably damaging Het
Grhl1 A G 12: 24,634,453 (GRCm39) K217R probably damaging Het
Itgb2 A G 10: 77,383,028 (GRCm39) probably null Het
Jag1 T A 2: 136,926,298 (GRCm39) I1035L probably benign Het
Kdm2a A G 19: 4,406,766 (GRCm39) probably benign Het
Lima1 A C 15: 99,741,581 (GRCm39) S32A probably damaging Het
Lmod1 C T 1: 135,292,522 (GRCm39) T459I probably damaging Het
Mtch1 T C 17: 29,555,196 (GRCm39) D284G probably damaging Het
Mtus2 C T 5: 148,013,819 (GRCm39) probably null Het
Or7c19 A G 8: 85,957,813 (GRCm39) T230A probably benign Het
Ppl T C 16: 4,912,355 (GRCm39) Q742R probably benign Het
Reln T C 5: 22,191,965 (GRCm39) R1492G probably damaging Het
Rsad1 T C 11: 94,434,466 (GRCm39) T323A possibly damaging Het
Slc22a8 A G 19: 8,585,329 (GRCm39) T293A possibly damaging Het
Ufd1 T C 16: 18,633,587 (GRCm39) F4S probably damaging Het
Usp9x T C X: 13,027,142 (GRCm39) V16A probably damaging Het
Vmn2r31 A T 7: 7,399,565 (GRCm39) C131S probably damaging Het
Vmn2r65 A G 7: 84,589,996 (GRCm39) I640T possibly damaging Het
Vwf T C 6: 125,660,519 (GRCm39) C2676R probably 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
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
IGL02629:Smc4 APN 3 68,933,206 (GRCm39) missense probably damaging 0.96
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 2013-06-21