Incidental Mutation 'IGL02834:Smc5'
ID 361563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smc5
Ensembl Gene ENSMUSG00000024943
Gene Name structural maintenance of chromosomes 5
Synonyms Smc5l1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02834
Quality Score
Status
Chromosome 19
Chromosomal Location 23183815-23251261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23234968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 289 (R289C)
Ref Sequence ENSEMBL: ENSMUSP00000153364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087556] [ENSMUST00000223934] [ENSMUST00000226111]
AlphaFold Q8CG46
Predicted Effect probably benign
Transcript: ENSMUST00000087556
AA Change: R289C

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943
AA Change: R289C

DomainStartEndE-ValueType
Pfam:SMC_N 52 1057 9.2e-19 PFAM
Pfam:AAA_23 55 456 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223934
AA Change: R289C

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000226111
AA Change: R213C

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout in embryonic stem cells causes abnormal mitosis, increased apoptosis and a shift from pluripotency to differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 A T 8: 78,091,729 (GRCm39) L430Q probably damaging Het
Cc2d2a C T 5: 43,871,863 (GRCm39) R900* probably null Het
Cd14 A G 18: 36,858,556 (GRCm39) Y300H probably benign Het
Dgcr8 T A 16: 18,090,623 (GRCm39) T584S probably benign Het
Epb41l5 C T 1: 119,551,685 (GRCm39) G100D probably benign Het
Fat4 G A 3: 39,010,893 (GRCm39) G1998R probably damaging Het
Fndc3b A T 3: 27,562,652 (GRCm39) L279H probably damaging Het
Gabrr1 A G 4: 33,151,426 (GRCm39) E114G probably damaging Het
Gpr141b A T 13: 19,914,045 (GRCm39) noncoding transcript Het
Hrh2 A G 13: 54,369,019 (GRCm39) R332G probably benign Het
Kif5a T C 10: 127,081,625 (GRCm39) I180V probably benign Het
Lyg2 T A 1: 37,949,048 (GRCm39) R105W probably damaging Het
Myc A G 15: 61,859,515 (GRCm39) I64V probably damaging Het
Nrcam G A 12: 44,587,858 (GRCm39) probably null Het
Ogdhl A G 14: 32,047,903 (GRCm39) Y51C probably damaging Het
Or13p5 C T 4: 118,591,803 (GRCm39) L26F probably benign Het
Or51m1 T A 7: 103,578,601 (GRCm39) C190* probably null Het
Pdlim3 A G 8: 46,370,569 (GRCm39) R290G probably benign Het
Ppm1l G A 3: 69,456,676 (GRCm39) A198T probably damaging Het
Prkd2 A G 7: 16,579,859 (GRCm39) D119G probably damaging Het
Rapgef3 A T 15: 97,646,146 (GRCm39) I820N probably damaging Het
Scnn1b A G 7: 121,511,285 (GRCm39) Y324C probably damaging Het
Vmn2r51 T A 7: 9,832,063 (GRCm39) R508* probably null Het
Vps13c A T 9: 67,845,137 (GRCm39) I2074L probably benign Het
Wdr64 T C 1: 175,633,415 (GRCm39) probably benign Het
Ydjc C T 16: 16,965,153 (GRCm39) P74L probably benign Het
Other mutations in Smc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Smc5 APN 19 23,213,329 (GRCm39) missense probably damaging 1.00
IGL01070:Smc5 APN 19 23,208,965 (GRCm39) missense possibly damaging 0.86
IGL01315:Smc5 APN 19 23,208,968 (GRCm39) missense probably benign
IGL01879:Smc5 APN 19 23,205,548 (GRCm39) missense probably damaging 0.97
IGL01902:Smc5 APN 19 23,237,132 (GRCm39) missense possibly damaging 0.85
IGL02016:Smc5 APN 19 23,251,076 (GRCm39) missense probably benign 0.00
IGL02186:Smc5 APN 19 23,209,223 (GRCm39) missense probably damaging 1.00
IGL02383:Smc5 APN 19 23,191,996 (GRCm39) splice site probably benign
IGL02447:Smc5 APN 19 23,234,856 (GRCm39) missense probably benign 0.01
IGL02534:Smc5 APN 19 23,205,536 (GRCm39) critical splice donor site probably null
IGL03290:Smc5 APN 19 23,251,022 (GRCm39) missense probably benign 0.19
R0722:Smc5 UTSW 19 23,186,291 (GRCm39) missense probably damaging 0.99
R0893:Smc5 UTSW 19 23,241,017 (GRCm39) missense possibly damaging 0.67
R0970:Smc5 UTSW 19 23,216,362 (GRCm39) missense probably damaging 1.00
R1281:Smc5 UTSW 19 23,213,247 (GRCm39) missense probably benign
R1368:Smc5 UTSW 19 23,187,807 (GRCm39) missense probably damaging 1.00
R2092:Smc5 UTSW 19 23,216,263 (GRCm39) missense probably benign
R3721:Smc5 UTSW 19 23,187,856 (GRCm39) missense probably benign 0.21
R4382:Smc5 UTSW 19 23,246,210 (GRCm39) missense probably benign 0.39
R4735:Smc5 UTSW 19 23,220,069 (GRCm39) missense probably benign
R4936:Smc5 UTSW 19 23,211,367 (GRCm39) missense probably damaging 1.00
R5306:Smc5 UTSW 19 23,237,009 (GRCm39) critical splice donor site probably null
R5754:Smc5 UTSW 19 23,221,467 (GRCm39) missense possibly damaging 0.92
R6175:Smc5 UTSW 19 23,191,534 (GRCm39) missense possibly damaging 0.60
R6313:Smc5 UTSW 19 23,186,312 (GRCm39) nonsense probably null
R6527:Smc5 UTSW 19 23,205,554 (GRCm39) missense probably benign 0.00
R6611:Smc5 UTSW 19 23,206,283 (GRCm39) missense probably benign 0.13
R6750:Smc5 UTSW 19 23,220,004 (GRCm39) missense probably damaging 1.00
R6801:Smc5 UTSW 19 23,192,010 (GRCm39) missense probably benign 0.34
R6821:Smc5 UTSW 19 23,220,151 (GRCm39) missense probably benign 0.20
R7002:Smc5 UTSW 19 23,209,247 (GRCm39) missense probably benign 0.00
R7198:Smc5 UTSW 19 23,237,064 (GRCm39) nonsense probably null
R7386:Smc5 UTSW 19 23,192,539 (GRCm39) missense possibly damaging 0.59
R7439:Smc5 UTSW 19 23,220,064 (GRCm39) missense probably damaging 0.97
R7596:Smc5 UTSW 19 23,191,533 (GRCm39) missense probably damaging 0.99
R7666:Smc5 UTSW 19 23,206,381 (GRCm39) missense probably benign 0.15
R7760:Smc5 UTSW 19 23,213,254 (GRCm39) missense probably benign 0.01
R7990:Smc5 UTSW 19 23,213,246 (GRCm39) missense probably benign 0.01
R8255:Smc5 UTSW 19 23,186,290 (GRCm39) missense
R8359:Smc5 UTSW 19 23,211,443 (GRCm39) missense possibly damaging 0.49
R8473:Smc5 UTSW 19 23,221,446 (GRCm39) missense probably benign 0.02
R8711:Smc5 UTSW 19 23,243,058 (GRCm39) missense probably damaging 0.98
R8815:Smc5 UTSW 19 23,221,422 (GRCm39) missense probably damaging 1.00
R8885:Smc5 UTSW 19 23,191,234 (GRCm39) missense probably damaging 0.99
R8940:Smc5 UTSW 19 23,237,126 (GRCm39) missense probably benign 0.00
R9642:Smc5 UTSW 19 23,238,752 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18