Incidental Mutation 'R0571:Smc4'
ID 46439
Institutional Source Beutler Lab
Gene Symbol Smc4
Ensembl Gene ENSMUSG00000034349
Gene Name structural maintenance of chromosomes 4
Synonyms Smc4l1, 2500002A22Rik
MMRRC Submission 038762-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.972) question?
Stock # R0571 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 68912071-68941956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68931622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 572 (V572A)
Ref Sequence ENSEMBL: ENSMUSP00000103433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042901] [ENSMUST00000107803] [ENSMUST00000148385] [ENSMUST00000195525]
AlphaFold Q8CG47
Predicted Effect probably damaging
Transcript: ENSMUST00000042901
AA Change: V597A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349
AA Change: V597A

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: V572A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349
AA Change: V572A

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: ENSMUST00000124983
Predicted Effect probably benign
Transcript: ENSMUST00000148385
Predicted Effect unknown
Transcript: ENSMUST00000149174
AA Change: V32A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194693
Predicted Effect probably benign
Transcript: ENSMUST00000195525
Meta Mutation Damage Score 0.5452 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 C T 14: 54,500,706 (GRCm39) T165I possibly damaging Het
Acsl5 A G 19: 55,277,343 (GRCm39) probably benign Het
Actl6b C A 5: 137,565,046 (GRCm39) probably benign Het
Atg13 T C 2: 91,509,063 (GRCm39) probably benign Het
Cabyr A G 18: 12,883,909 (GRCm39) E132G probably damaging Het
Cadps2 C T 6: 23,583,411 (GRCm39) V389I probably damaging Het
Capn2 C T 1: 182,298,325 (GRCm39) V647I probably benign Het
Card10 G T 15: 78,671,601 (GRCm39) P621Q possibly damaging Het
Catsperb C G 12: 101,569,033 (GRCm39) H902D possibly damaging Het
Cers3 A G 7: 66,435,805 (GRCm39) M255V possibly damaging Het
Cfh T C 1: 140,030,071 (GRCm39) probably null Het
Chd3 A C 11: 69,252,495 (GRCm39) probably null Het
Chpf2 G T 5: 24,795,425 (GRCm39) R316L probably damaging Het
Clca3a1 T A 3: 144,713,550 (GRCm39) N694Y probably damaging Het
Cplane1 A G 15: 8,289,277 (GRCm39) D2909G unknown Het
Ctbp2 G A 7: 132,616,534 (GRCm39) L44F probably damaging Het
Cttnbp2 T C 6: 18,381,102 (GRCm39) M1365V probably benign Het
D130052B06Rik G A 11: 33,573,922 (GRCm39) R173H probably benign Het
Dchs1 A G 7: 105,421,203 (GRCm39) F406L probably damaging Het
Ddx43 T A 9: 78,321,145 (GRCm39) N384K possibly damaging Het
Drd5 G A 5: 38,477,270 (GRCm39) V88M probably damaging Het
Eefsec A T 6: 88,274,881 (GRCm39) F361Y probably benign Het
Epb41 T C 4: 131,717,215 (GRCm39) D313G probably damaging Het
Etl4 T C 2: 20,748,580 (GRCm39) M104T probably damaging Het
Fabp7 A T 10: 57,661,637 (GRCm39) T37S probably benign Het
Fam186b T C 15: 99,184,834 (GRCm39) T30A probably benign Het
Fam83d G A 2: 158,627,611 (GRCm39) W433* probably null Het
Fmnl2 A T 2: 52,944,503 (GRCm39) T161S probably benign Het
Ghsr C T 3: 27,426,165 (GRCm39) R74C probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Gtpbp4 A T 13: 9,040,722 (GRCm39) probably benign Het
Hamp2 A G 7: 30,623,511 (GRCm39) L17P possibly damaging Het
Heatr1 C A 13: 12,445,121 (GRCm39) S1581R probably damaging Het
Hpf1 T C 8: 61,353,147 (GRCm39) V176A probably benign Het
Hydin T A 8: 111,240,735 (GRCm39) probably null Het
Ighg2c G A 12: 113,252,382 (GRCm39) Q57* probably null Het
Itgb4 A G 11: 115,870,594 (GRCm39) N141S possibly damaging Het
Kif13b G T 14: 64,988,977 (GRCm39) R786L probably damaging Het
Lhx3 C A 2: 26,091,136 (GRCm39) W391L probably damaging Het
Map1s T A 8: 71,365,551 (GRCm39) V152D probably damaging Het
Map4 T C 9: 109,865,834 (GRCm39) M608T probably benign Het
Mb21d2 G A 16: 28,748,324 (GRCm39) A31V probably benign Het
Mfn1 T C 3: 32,615,621 (GRCm39) I328T probably damaging Het
Mif-ps9 G A 19: 56,743,675 (GRCm39) noncoding transcript Het
Myh4 A T 11: 67,141,157 (GRCm39) I740F possibly damaging Het
Neo1 A G 9: 58,893,069 (GRCm39) V191A probably benign Het
Nfatc4 T C 14: 56,067,485 (GRCm39) V565A probably damaging Het
Nrxn2 G C 19: 6,523,563 (GRCm39) E525D probably damaging Het
Or12k8 T C 2: 36,975,346 (GRCm39) H138R probably benign Het
Pcdhb12 A T 18: 37,570,261 (GRCm39) D469V probably damaging Het
Pcdhb6 G T 18: 37,468,167 (GRCm39) V363L probably benign Het
Pkd1l2 T C 8: 117,808,957 (GRCm39) T78A probably benign Het
Primpol T G 8: 47,034,674 (GRCm39) D418A probably damaging Het
Rbm12b1 G A 4: 12,146,248 (GRCm39) S740N probably benign Het
Rpe65 T C 3: 159,305,986 (GRCm39) L15P probably damaging Het
Rxrb CGCGGCGGCGGCGGCGGCGGC CGCGGCGGCGGCGGCGGC 17: 34,251,106 (GRCm39) probably benign Het
Sectm1a A G 11: 120,959,928 (GRCm39) probably benign Het
Sft2d1 C A 17: 8,545,782 (GRCm39) probably benign Het
Slc22a18 A G 7: 143,045,598 (GRCm39) probably benign Het
Slu7 G A 11: 43,332,405 (GRCm39) probably null Het
Spire2 T A 8: 124,080,855 (GRCm39) I33N probably damaging Het
Tbck T A 3: 132,458,403 (GRCm39) C678S probably damaging Het
Tnrc6b T C 15: 80,797,539 (GRCm39) V1362A probably damaging Het
Ttn T C 2: 76,570,326 (GRCm39) K25110E possibly damaging Het
Ugt2b35 A G 5: 87,148,793 (GRCm39) S15G possibly damaging Het
Upf3a T A 8: 13,842,184 (GRCm39) I200K probably damaging Het
Vill G C 9: 118,899,701 (GRCm39) G295A possibly damaging Het
Vmn1r191 A T 13: 22,363,217 (GRCm39) V179D probably damaging Het
Vmn2r74 T C 7: 85,601,629 (GRCm39) T670A probably damaging Het
Zfp169 T C 13: 48,643,166 (GRCm39) T654A possibly damaging Het
Zfp646 A G 7: 127,481,138 (GRCm39) E1105G probably damaging Het
Zyg11b A T 4: 108,117,239 (GRCm39) Y334N 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
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
Predicted Primers PCR Primer
(F):5'- GCCAGGCCAAAATAGCACTATGGAA -3'
(R):5'- AGCAACTTGGTACACCTTTGACCAAAT -3'

Sequencing Primer
(F):5'- GCACTATGGAAGCTCAGTGTTAC -3'
(R):5'- ggtgagggagaaacagagaatag -3'
Posted On 2013-06-11