Incidental Mutation 'IGL01902:Smc5'
ID 179552
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 # IGL01902
Quality Score
Status
Chromosome 19
Chromosomal Location 23183815-23251261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23237132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 233 (T233I)
Ref Sequence ENSEMBL: ENSMUSP00000153364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087556] [ENSMUST00000223934] [ENSMUST00000226111]
AlphaFold Q8CG46
Predicted Effect possibly damaging
Transcript: ENSMUST00000087556
AA Change: T233I

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943
AA Change: T233I

DomainStartEndE-ValueType
Pfam:SMC_N 52 1057 9.2e-19 PFAM
Pfam:AAA_23 55 456 1.2e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000223934
AA Change: T233I

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224723
Predicted Effect probably benign
Transcript: ENSMUST00000226111
AA Change: T157I

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,147,267 (GRCm39) S228P probably damaging Het
Adamtsl2 A T 2: 26,977,264 (GRCm39) I242F probably damaging Het
Bicdl1 A G 5: 115,789,933 (GRCm39) L284P probably damaging Het
Bnc2 A G 4: 84,309,181 (GRCm39) I138T probably damaging Het
Cep350 A G 1: 155,737,731 (GRCm39) L2704S probably damaging Het
Col7a1 C A 9: 108,806,895 (GRCm39) P2442T unknown Het
Cpne6 A T 14: 55,750,207 (GRCm39) T113S possibly damaging Het
Crnkl1 T C 2: 145,766,632 (GRCm39) probably null Het
Cyp2c67 T A 19: 39,637,470 (GRCm39) D2V probably damaging Het
Frzb T A 2: 80,243,711 (GRCm39) S323C probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Ins2 C T 7: 142,233,179 (GRCm39) C31Y probably damaging Het
Lipf A T 19: 33,948,179 (GRCm39) N234Y probably benign Het
Mtf1 T C 4: 124,698,720 (GRCm39) F73L probably damaging Het
Nrxn1 A G 17: 91,395,919 (GRCm39) probably null Het
Pcnx1 A G 12: 82,025,868 (GRCm39) T1538A probably damaging Het
Polr1a T A 6: 71,940,732 (GRCm39) V47D probably damaging Het
Prune2 A G 19: 17,096,002 (GRCm39) E502G probably benign Het
Ralgapa2 C T 2: 146,156,934 (GRCm39) V1886M probably damaging Het
Rapgef3 T A 15: 97,648,181 (GRCm39) H676L probably benign Het
Rbm20 A T 19: 53,829,422 (GRCm39) N607Y probably damaging Het
Snx13 A T 12: 35,183,306 (GRCm39) probably null Het
Suz12 T A 11: 79,916,776 (GRCm39) C510S probably benign Het
Tab2 A T 10: 7,795,756 (GRCm39) M242K probably benign Het
Tep1 A G 14: 51,103,548 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript 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
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 2014-05-07