Incidental Mutation 'R7148:Smc3'
ID 553982
Institutional Source Beutler Lab
Gene Symbol Smc3
Ensembl Gene ENSMUSG00000024974
Gene Name structural maintenance of chromosomes 3
Synonyms Cspg6, Bamacan, Mmip1, SmcD
MMRRC Submission 045225-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7148 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 53588827-53634262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53630326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 1111 (E1111V)
Ref Sequence ENSEMBL: ENSMUSP00000025930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025930]
AlphaFold Q9CW03
PDB Structure SMC hinge heterodimer (Mouse) [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025930
AA Change: E1111V

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025930
Gene: ENSMUSG00000024974
AA Change: E1111V

DomainStartEndE-ValueType
Pfam:AAA_23 5 359 5.4e-10 PFAM
SMC_hinge 530 643 1.85e-23 SMART
low complexity region 684 711 N/A INTRINSIC
Blast:SMC_hinge 712 804 3e-49 BLAST
low complexity region 805 818 N/A INTRINSIC
Blast:SMC_hinge 819 870 3e-23 BLAST
Blast:INB 898 1174 2e-52 BLAST
PDB:1XEW|Y 1032 1212 6e-30 PDB
SCOP:d1e69a_ 1114 1193 2e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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 SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality. Mice heterozygous for this allele exhibit partial postnatal lethality, decreased body weight, abnormal craniofacial morphology, and increased T cell number. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T A 14: 32,110,269 (GRCm39) Y14F probably damaging Het
Acly A G 11: 100,374,608 (GRCm39) V805A possibly damaging Het
Apcdd1 T C 18: 63,084,916 (GRCm39) V371A probably damaging Het
Cacna1g A T 11: 94,356,756 (GRCm39) F127I probably benign Het
Ccdc138 T C 10: 58,374,102 (GRCm39) L374P probably damaging Het
Ces2b A G 8: 105,564,928 (GRCm39) Y504C probably damaging Het
Ces5a C T 8: 94,228,950 (GRCm39) G427S probably damaging Het
Chd1l C T 3: 97,498,632 (GRCm39) V256M probably damaging Het
Col24a1 C T 3: 145,021,060 (GRCm39) T477M probably damaging Het
Dmbt1 T A 7: 130,668,464 (GRCm39) C573* probably null Het
Emcn A T 3: 137,122,855 (GRCm39) Y188F possibly damaging Het
Eva1a T G 6: 82,048,125 (GRCm39) M1R probably null Het
Fam243 T C 16: 92,117,875 (GRCm39) K138E probably benign Het
Fam83h C A 15: 75,877,016 (GRCm39) D194Y probably damaging Het
Flywch1 T C 17: 23,974,649 (GRCm39) K664E probably benign Het
Fzd9 A G 5: 135,278,544 (GRCm39) V447A probably benign Het
Heatr5b T C 17: 79,138,863 (GRCm39) D93G probably damaging Het
Hmcn1 T C 1: 150,562,605 (GRCm39) I2318V probably benign Het
Hyal5 T A 6: 24,876,901 (GRCm39) L258Q probably damaging Het
Itprid1 T C 6: 55,874,671 (GRCm39) I207T probably damaging Het
Kmo T A 1: 175,479,168 (GRCm39) C235S probably damaging Het
Lamc2 G A 1: 153,061,730 (GRCm39) P2S probably benign Het
Lman2 G A 13: 55,500,762 (GRCm39) P146S probably benign Het
Mars2 T C 1: 55,276,673 (GRCm39) I92T probably damaging Het
Msh3 A G 13: 92,491,330 (GRCm39) F27L probably benign Het
Myom2 T C 8: 15,134,577 (GRCm39) V460A possibly damaging Het
Nicn1 T A 9: 108,172,306 (GRCm39) *214R probably null Het
Nsd2 T C 5: 34,042,855 (GRCm39) F1040L possibly damaging Het
Or1ab2 T A 8: 72,864,001 (GRCm39) I197N possibly damaging Het
Osm T A 11: 4,189,936 (GRCm39) I240N probably benign Het
Pard3b T A 1: 62,479,191 (GRCm39) D884E probably benign Het
Pex5 T G 6: 124,382,231 (GRCm39) D150A probably benign Het
Pfkfb4 T C 9: 108,856,676 (GRCm39) V394A probably damaging Het
Pjvk A G 2: 76,488,831 (GRCm39) K334R possibly damaging Het
Pkd1l2 T C 8: 117,807,525 (GRCm39) D171G probably benign Het
Prpf4b T G 13: 35,078,455 (GRCm39) N688K probably benign Het
R3hcc1 T C 14: 69,943,001 (GRCm39) E192G possibly damaging Het
Rad54l2 C A 9: 106,596,318 (GRCm39) G207* probably null Het
Rhobtb3 G T 13: 76,059,006 (GRCm39) T264K probably benign Het
Rpl27 A G 11: 101,333,232 (GRCm39) probably benign Het
Rxfp3 C T 15: 11,036,863 (GRCm39) V170I possibly damaging Het
Samd4 T A 14: 47,254,140 (GRCm39) S201R probably benign Het
Sell A G 1: 163,893,176 (GRCm39) I131V possibly damaging Het
Semp2l2a T A 8: 13,887,996 (GRCm39) I32L probably benign Het
Sirpb1c A T 3: 15,887,223 (GRCm39) Y205* probably null Het
Sowaha C A 11: 53,370,182 (GRCm39) V185L probably benign Het
Spata4 A C 8: 55,055,585 (GRCm39) I159L probably benign Het
Spring1 A G 5: 118,393,759 (GRCm39) N46D probably benign Het
Tekt2 A G 4: 126,216,174 (GRCm39) I373T probably benign Het
Tle7 G T 8: 110,836,048 (GRCm39) R119I probably benign Het
Tomm20l T C 12: 71,164,313 (GRCm39) V65A probably benign Het
Trabd2b A G 4: 114,266,547 (GRCm39) D187G probably damaging Het
Trrap A G 5: 144,758,613 (GRCm39) I2147V possibly damaging Het
Tsc22d2 T A 3: 58,324,429 (GRCm39) C440* probably null Het
Ube3b A C 5: 114,544,313 (GRCm39) N570T probably damaging Het
Uevld A G 7: 46,600,724 (GRCm39) I70T probably damaging Het
Usp10 C T 8: 120,663,289 (GRCm39) T37I possibly damaging Het
Vmn2r23 T A 6: 123,689,981 (GRCm39) F286I probably benign Het
Vmn2r62 A G 7: 42,414,640 (GRCm39) V601A probably benign Het
Wdr81 G C 11: 75,336,828 (GRCm39) N401K Het
Ythdc2 G T 18: 44,966,189 (GRCm39) V142F probably benign Het
Zfp346 T C 13: 55,253,263 (GRCm39) F36S possibly damaging Het
Zfp748 C T 13: 67,690,358 (GRCm39) V301M possibly damaging Het
Zim1 T C 7: 6,681,220 (GRCm39) K148E possibly damaging Het
Other mutations in Smc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Smc3 APN 19 53,617,758 (GRCm39) missense probably damaging 0.99
IGL01300:Smc3 APN 19 53,630,283 (GRCm39) splice site probably benign
IGL02136:Smc3 APN 19 53,624,147 (GRCm39) missense probably benign 0.02
IGL02216:Smc3 APN 19 53,610,275 (GRCm39) missense probably damaging 1.00
IGL02473:Smc3 APN 19 53,624,879 (GRCm39) missense probably benign 0.06
IGL02797:Smc3 APN 19 53,627,189 (GRCm39) missense probably benign 0.03
IGL02959:Smc3 APN 19 53,611,988 (GRCm39) missense probably benign 0.00
IGL03343:Smc3 APN 19 53,602,273 (GRCm39) missense probably damaging 1.00
Bits UTSW 19 53,611,649 (GRCm39) critical splice donor site probably null
Pieces UTSW 19 53,617,802 (GRCm39) missense probably damaging 0.99
Smithereens UTSW 19 53,630,362 (GRCm39) missense probably damaging 1.00
R0081:Smc3 UTSW 19 53,589,993 (GRCm39) splice site probably benign
R0940:Smc3 UTSW 19 53,629,340 (GRCm39) missense probably benign 0.10
R1248:Smc3 UTSW 19 53,622,509 (GRCm39) missense probably benign 0.01
R1661:Smc3 UTSW 19 53,613,496 (GRCm39) missense probably benign 0.08
R1779:Smc3 UTSW 19 53,627,800 (GRCm39) missense probably benign 0.02
R2046:Smc3 UTSW 19 53,627,845 (GRCm39) missense probably benign 0.00
R2073:Smc3 UTSW 19 53,619,964 (GRCm39) missense probably benign 0.08
R2074:Smc3 UTSW 19 53,619,964 (GRCm39) missense probably benign 0.08
R3077:Smc3 UTSW 19 53,616,322 (GRCm39) missense probably benign 0.16
R4962:Smc3 UTSW 19 53,619,948 (GRCm39) missense probably damaging 0.99
R5684:Smc3 UTSW 19 53,629,235 (GRCm39) missense probably benign 0.00
R6020:Smc3 UTSW 19 53,613,594 (GRCm39) critical splice donor site probably null
R6169:Smc3 UTSW 19 53,622,517 (GRCm39) missense probably benign 0.02
R6221:Smc3 UTSW 19 53,630,362 (GRCm39) missense probably damaging 1.00
R6258:Smc3 UTSW 19 53,616,162 (GRCm39) splice site probably null
R6960:Smc3 UTSW 19 53,617,802 (GRCm39) missense probably damaging 0.99
R7048:Smc3 UTSW 19 53,617,682 (GRCm39) missense probably benign 0.01
R7157:Smc3 UTSW 19 53,630,329 (GRCm39) missense probably damaging 1.00
R7805:Smc3 UTSW 19 53,629,390 (GRCm39) missense probably benign 0.26
R7968:Smc3 UTSW 19 53,611,649 (GRCm39) critical splice donor site probably null
R8066:Smc3 UTSW 19 53,603,576 (GRCm39) missense probably damaging 1.00
R8202:Smc3 UTSW 19 53,617,123 (GRCm39) missense possibly damaging 0.94
R8472:Smc3 UTSW 19 53,617,142 (GRCm39) missense probably benign 0.02
R8683:Smc3 UTSW 19 53,629,616 (GRCm39) missense possibly damaging 0.50
R8827:Smc3 UTSW 19 53,611,085 (GRCm39) missense probably benign 0.01
R9072:Smc3 UTSW 19 53,617,200 (GRCm39) missense probably benign 0.00
R9073:Smc3 UTSW 19 53,617,200 (GRCm39) missense probably benign 0.00
R9355:Smc3 UTSW 19 53,622,544 (GRCm39) critical splice donor site probably null
R9428:Smc3 UTSW 19 53,617,150 (GRCm39) missense possibly damaging 0.48
X0026:Smc3 UTSW 19 53,613,551 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GCAGTGTTCCATCAGTTGACC -3'
(R):5'- CCCACAGCAAGTTCTCACTG -3'

Sequencing Primer
(F):5'- TCAGTTGACCAGTTCACAGG -3'
(R):5'- TGAACAGAAATCAGAACTGTACCTG -3'
Posted On 2019-05-15