Incidental Mutation 'IGL00569:Smc5'
ID 3222
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 # IGL00569
Quality Score
Status
Chromosome 19
Chromosomal Location 23183815-23251261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23213329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 528 (R528C)
Ref Sequence ENSEMBL: ENSMUSP00000153364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087556] [ENSMUST00000223934] [ENSMUST00000226111]
AlphaFold Q8CG46
Predicted Effect probably damaging
Transcript: ENSMUST00000087556
AA Change: R528C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943
AA Change: R528C

DomainStartEndE-ValueType
Pfam:SMC_N 52 1057 9.2e-19 PFAM
Pfam:AAA_23 55 456 1.2e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000223934
AA Change: R528C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226111
AA Change: R452C

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T G 11: 110,077,875 (GRCm39) N1311H possibly damaging Het
Adrm1b T C 3: 92,335,707 (GRCm39) T332A probably benign Het
Apol8 C T 15: 77,634,255 (GRCm39) R107H probably benign Het
Cacna1a T A 8: 85,189,343 (GRCm39) I98N probably damaging Het
Clps T A 17: 28,779,636 (GRCm39) probably benign Het
Dcc T A 18: 71,517,296 (GRCm39) probably null Het
Dock10 A G 1: 80,562,729 (GRCm39) F544L probably damaging Het
Eif2ak2 A T 17: 79,176,912 (GRCm39) S218T probably benign Het
Faf1 T C 4: 109,819,077 (GRCm39) *650Q probably null Het
Fxn A T 19: 24,244,714 (GRCm39) I142N probably damaging Het
Gm10610 A T 7: 83,198,778 (GRCm39) noncoding transcript Het
Hspa1l C T 17: 35,196,441 (GRCm39) T160I probably damaging Het
Kcng4 A G 8: 120,353,070 (GRCm39) V280A probably benign Het
Khsrp T C 17: 57,330,092 (GRCm39) T646A possibly damaging Het
Lilra6 A G 7: 3,917,588 (GRCm39) S136P probably damaging Het
Lmo7 T G 14: 102,124,487 (GRCm39) N315K probably damaging Het
Map3k5 A G 10: 19,810,790 (GRCm39) T147A possibly damaging Het
Mical3 T C 6: 120,938,585 (GRCm39) E1134G possibly damaging Het
Nek3 A G 8: 22,648,722 (GRCm39) L103P probably damaging Het
Nudt17 G T 3: 96,614,343 (GRCm39) P222Q probably damaging Het
Pla2r1 G T 2: 60,250,769 (GRCm39) T1386K probably benign Het
Ptpn13 A G 5: 103,738,872 (GRCm39) probably benign Het
Rgl1 A C 1: 152,447,368 (GRCm39) S134A probably benign Het
Rnls T A 19: 33,145,888 (GRCm39) E195V probably benign Het
Sall4 T C 2: 168,597,232 (GRCm39) N536S probably benign Het
Serinc3 G T 2: 163,469,921 (GRCm39) P309Q probably damaging Het
Stxbp3-ps A T 19: 9,535,186 (GRCm39) noncoding transcript Het
Tmem67 T A 4: 12,061,826 (GRCm39) I549L probably damaging Het
Trank1 C A 9: 111,174,579 (GRCm39) H269N possibly damaging Het
Wdr87-ps A T 7: 29,233,565 (GRCm39) noncoding transcript Het
Other mutations in Smc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02834:Smc5 APN 19 23,234,968 (GRCm39) missense probably benign 0.30
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 2012-04-20