Incidental Mutation 'IGL01879:Smc5'
ID 178988
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 # IGL01879
Quality Score
Status
Chromosome 19
Chromosomal Location 23183815-23251261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23205548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 796 (R796H)
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: R796H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943
AA Change: R796H

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: R796H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226111
AA Change: R720H

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cgn G A 3: 94,681,674 (GRCm39) R474* probably null Het
Chmp4b T C 2: 154,534,601 (GRCm39) probably benign Het
Chst15 A G 7: 131,871,994 (GRCm39) Y96H possibly damaging Het
Clstn3 A G 6: 124,415,769 (GRCm39) S638P probably damaging Het
Colq C T 14: 31,265,952 (GRCm39) G187E probably damaging Het
Cyp2b23 A G 7: 26,372,279 (GRCm39) Y389H probably benign Het
Cyp3a13 T C 5: 137,917,265 (GRCm39) Q54R probably benign Het
Dscc1 T C 15: 54,950,212 (GRCm39) I178V probably benign Het
Fbxo4 G A 15: 4,005,436 (GRCm39) T148M probably damaging Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpr162 A G 6: 124,838,204 (GRCm39) S149P probably damaging Het
Grid1 T A 14: 35,172,327 (GRCm39) I611N possibly damaging Het
Mgat5 T C 1: 127,325,287 (GRCm39) F385L probably damaging Het
Npepps T C 11: 97,149,166 (GRCm39) T17A possibly damaging Het
Or4c125 T C 2: 89,170,366 (GRCm39) I93M probably benign Het
Or4n4b A G 14: 50,535,969 (GRCm39) S266P probably benign Het
Or5p60 A T 7: 107,724,371 (GRCm39) I33N possibly damaging Het
Or7g29 A T 9: 19,286,703 (GRCm39) L158* probably null Het
Parg T C 14: 31,993,579 (GRCm39) probably benign Het
Rad51ap2 A G 12: 11,508,139 (GRCm39) D687G probably benign Het
Sh3bp1 T G 15: 78,792,192 (GRCm39) S450A probably damaging Het
Skap2 T C 6: 51,973,014 (GRCm39) D90G possibly damaging Het
Tdrd12 A C 7: 35,221,348 (GRCm39) I146S probably damaging Het
Tinf2 T C 14: 55,918,363 (GRCm39) probably benign Het
Trio G A 15: 27,741,119 (GRCm39) T2702I probably benign Het
Vmn1r88 T A 7: 12,912,229 (GRCm39) M195K probably benign Het
Vmn2r110 T C 17: 20,794,122 (GRCm39) H849R probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r4 C T 3: 64,298,431 (GRCm39) G566R probably damaging Het
Wdpcp A G 11: 21,661,630 (GRCm39) T301A probably damaging 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
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 2014-05-07