Incidental Mutation 'R7773:Smc4'
ID 598691
Institutional Source Beutler Lab
Gene Symbol Smc4
Ensembl Gene ENSMUSG00000034349
Gene Name structural maintenance of chromosomes 4
Synonyms Smc4l1, 2500002A22Rik
MMRRC Submission 045829-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # R7773 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 68912071-68941956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68923496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 251 (Y251C)
Ref Sequence ENSEMBL: ENSMUSP00000047872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042901] [ENSMUST00000107803] [ENSMUST00000136502] [ENSMUST00000148385] [ENSMUST00000195525]
AlphaFold Q8CG47
PDB Structure Crystal Structure of the Mouse Condensin Hinge Domain [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000042901
AA Change: Y251C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349
AA Change: Y251C

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: Y226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349
AA Change: Y226C

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 probably damaging
Transcript: ENSMUST00000136502
AA Change: Y251C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115033
Gene: ENSMUSG00000034349
AA Change: Y251C

DomainStartEndE-ValueType
Pfam:SMC_N 81 303 1.2e-42 PFAM
Pfam:AAA_23 84 336 2.6e-16 PFAM
Pfam:AAA_21 106 227 1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148385
Predicted Effect probably benign
Transcript: ENSMUST00000195525
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,206,180 (GRCm39) I336T probably benign Het
4930519P11Rik T C 2: 154,455,107 (GRCm39) Y84C unknown Het
4930568D16Rik C T 2: 35,244,606 (GRCm39) G249S probably damaging Het
AAdacl4fm3 A T 4: 144,430,047 (GRCm39) L314Q probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agbl1 T A 7: 76,348,585 (GRCm39) V894E unknown Het
Amigo3 T C 9: 107,931,867 (GRCm39) L430P probably benign Het
Aoc1 A G 6: 48,883,146 (GRCm39) I341V probably benign Het
Bod1l A G 5: 41,990,055 (GRCm39) S223P probably benign Het
Cacnb3 T C 15: 98,537,819 (GRCm39) probably null Het
Ccdc63 G T 5: 122,247,335 (GRCm39) N503K probably damaging Het
Ccdc83 T A 7: 89,879,120 (GRCm39) I225F probably damaging Het
Cd200r1 A G 16: 44,610,050 (GRCm39) T90A possibly damaging Het
Cd8a A G 6: 71,350,799 (GRCm39) N88S probably benign Het
Cep170 A G 1: 176,567,642 (GRCm39) V152A Het
Chid1 T C 7: 141,109,518 (GRCm39) M123V probably benign Het
Cnnm4 T C 1: 36,538,603 (GRCm39) V595A probably benign Het
Coro7 A G 16: 4,449,870 (GRCm39) L630P probably damaging Het
Cpvl A G 6: 53,908,890 (GRCm39) probably null Het
Edem3 A T 1: 151,687,347 (GRCm39) K762* probably null Het
Elp6 T A 9: 110,141,627 (GRCm39) probably null Het
Emilin3 A T 2: 160,752,718 (GRCm39) Y77* probably null Het
Fam234b T A 6: 135,220,912 (GRCm39) I641N probably benign Het
Farsa T C 8: 85,590,781 (GRCm39) probably null Het
Foxf2 T C 13: 31,811,182 (GRCm39) S374P probably benign Het
Gm11596 A T 11: 99,683,667 (GRCm39) I151N unknown Het
Gm9817 C T 13: 45,232,427 (GRCm39) Q77* probably null Het
Gon4l A G 3: 88,803,102 (GRCm39) K1238E probably benign Het
H13 A G 2: 152,537,431 (GRCm39) Y292C probably damaging Het
Hip1r A G 5: 124,139,504 (GRCm39) N928S probably benign Het
Iqcf4 T C 9: 106,445,812 (GRCm39) N112D probably benign Het
Jak3 A C 8: 72,131,686 (GRCm39) T125P probably benign Het
Krt7 A C 15: 101,311,913 (GRCm39) K124Q possibly damaging Het
Ldc1 T C 4: 130,114,169 (GRCm39) N83D probably damaging Het
Lrrc66 G A 5: 73,764,664 (GRCm39) S793F probably damaging Het
Mycbp2 C T 14: 103,485,840 (GRCm39) V1074I probably damaging Het
Nckap5 T C 1: 125,954,581 (GRCm39) D657G probably benign Het
Nt5el A G 13: 105,218,793 (GRCm39) I42M probably damaging Het
Or5b113 T A 19: 13,342,598 (GRCm39) V202E probably benign Het
Or8k21 T C 2: 86,145,034 (GRCm39) I199V probably benign Het
Osbpl7 A G 11: 96,941,548 (GRCm39) S24G probably benign Het
Pcm1 G T 8: 41,762,610 (GRCm39) E1385* probably null Het
Poc5 A G 13: 96,547,143 (GRCm39) T469A probably damaging Het
Ppp3ca A G 3: 136,596,222 (GRCm39) T296A probably benign Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rnf149 A C 1: 39,604,299 (GRCm39) M188R possibly damaging Het
Rpl10l T C 12: 66,331,041 (GRCm39) I31V probably benign Het
Serinc5 T C 13: 92,797,592 (GRCm39) S32P probably damaging Het
Sirt1 T A 10: 63,162,562 (GRCm39) K137M possibly damaging Het
Sod3 A C 5: 52,525,643 (GRCm39) E114A possibly damaging Het
Tgfbr3 A G 5: 107,288,368 (GRCm39) V431A probably benign Het
Tlr4 T C 4: 66,757,836 (GRCm39) S210P probably damaging Het
Trub2 G T 2: 29,676,520 (GRCm39) T70N probably benign Het
Tsga10 A T 1: 37,874,323 (GRCm39) C159S unknown Het
Vmn1r15 A T 6: 57,235,644 (GRCm39) I171F probably benign Het
Vmn2r50 T A 7: 9,771,562 (GRCm39) H713L possibly damaging Het
Zcchc14 T C 8: 122,378,514 (GRCm39) S43G unknown Het
Zfp638 T C 6: 83,956,196 (GRCm39) I1601T 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
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
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
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
Predicted Primers PCR Primer
(F):5'- GGCACCTCTTTATATATGTGGGTATTC -3'
(R):5'- TCAGCTGTTCTGCAAATAAGACAG -3'

Sequencing Primer
(F):5'- ACCCTGTTCTCACTGAAG -3'
(R):5'- GTCCTGGAACTCAGTCTGTAAAC -3'
Posted On 2019-11-26