Incidental Mutation 'IGL01879:Smc5'
ID178988
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smc5
Ensembl Gene ENSMUSG00000024943
Gene Namestructural maintenance of chromosomes 5
SynonymsSmc5l1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01879
Quality Score
Status
Chromosome19
Chromosomal Location23206451-23273897 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 23228184 bp
ZygosityHeterozygous
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]
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: 94,774,364 R474* probably null Het
Chmp4b T C 2: 154,692,681 probably benign Het
Chst15 A G 7: 132,270,265 Y96H possibly damaging Het
Clstn3 A G 6: 124,438,810 S638P probably damaging Het
Colq C T 14: 31,543,995 G187E probably damaging Het
Cyp2b23 A G 7: 26,672,854 Y389H probably benign Het
Cyp3a13 T C 5: 137,919,003 Q54R probably benign Het
Dscc1 T C 15: 55,086,816 I178V probably benign Het
Fbxo4 G A 15: 3,975,954 T148M probably damaging Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpr162 A G 6: 124,861,241 S149P probably damaging Het
Grid1 T A 14: 35,450,370 I611N possibly damaging Het
Mgat5 T C 1: 127,397,550 F385L probably damaging Het
Npepps T C 11: 97,258,340 T17A possibly damaging Het
Olfr1233 T C 2: 89,340,022 I93M probably benign Het
Olfr484 A T 7: 108,125,164 I33N possibly damaging Het
Olfr733 A G 14: 50,298,512 S266P probably benign Het
Olfr847 A T 9: 19,375,407 L158* probably null Het
Parg T C 14: 32,271,622 probably benign Het
Rad51ap2 A G 12: 11,458,138 D687G probably benign Het
Sh3bp1 T G 15: 78,907,992 S450A probably damaging Het
Skap2 T C 6: 51,996,034 D90G possibly damaging Het
Tdrd12 A C 7: 35,521,923 I146S probably damaging Het
Tinf2 T C 14: 55,680,906 probably benign Het
Trio G A 15: 27,741,033 T2702I probably benign Het
Vmn1r88 T A 7: 13,178,302 M195K probably benign Het
Vmn2r110 T C 17: 20,573,860 H849R probably benign Het
Vmn2r4 C T 3: 64,391,010 G566R probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdpcp A G 11: 21,711,630 T301A probably damaging Het
Other mutations in Smc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Smc5 APN 19 23235965 missense probably damaging 1.00
IGL01070:Smc5 APN 19 23231601 missense possibly damaging 0.86
IGL01315:Smc5 APN 19 23231604 missense probably benign
IGL01902:Smc5 APN 19 23259768 missense possibly damaging 0.85
IGL02016:Smc5 APN 19 23273712 missense probably benign 0.00
IGL02186:Smc5 APN 19 23231859 missense probably damaging 1.00
IGL02383:Smc5 APN 19 23214632 splice site probably benign
IGL02447:Smc5 APN 19 23257492 missense probably benign 0.01
IGL02534:Smc5 APN 19 23228172 critical splice donor site probably null
IGL02834:Smc5 APN 19 23257604 missense probably benign 0.30
IGL03290:Smc5 APN 19 23273658 missense probably benign 0.19
R0722:Smc5 UTSW 19 23208927 missense probably damaging 0.99
R0893:Smc5 UTSW 19 23263653 missense possibly damaging 0.67
R0970:Smc5 UTSW 19 23238998 missense probably damaging 1.00
R1281:Smc5 UTSW 19 23235883 missense probably benign
R1368:Smc5 UTSW 19 23210443 missense probably damaging 1.00
R2092:Smc5 UTSW 19 23238899 missense probably benign
R3721:Smc5 UTSW 19 23210492 missense probably benign 0.21
R4382:Smc5 UTSW 19 23268846 missense probably benign 0.39
R4735:Smc5 UTSW 19 23242705 missense probably benign
R4936:Smc5 UTSW 19 23234003 missense probably damaging 1.00
R5306:Smc5 UTSW 19 23259645 critical splice donor site probably null
R5754:Smc5 UTSW 19 23244103 missense possibly damaging 0.92
R6175:Smc5 UTSW 19 23214170 missense possibly damaging 0.60
R6313:Smc5 UTSW 19 23208948 nonsense probably null
R6527:Smc5 UTSW 19 23228190 missense probably benign 0.00
R6611:Smc5 UTSW 19 23228919 missense probably benign 0.13
R6750:Smc5 UTSW 19 23242640 missense probably damaging 1.00
R6801:Smc5 UTSW 19 23214646 missense probably benign 0.34
R6821:Smc5 UTSW 19 23242787 missense probably benign 0.20
R7002:Smc5 UTSW 19 23231883 missense probably benign 0.00
R7198:Smc5 UTSW 19 23259700 nonsense probably null
R7386:Smc5 UTSW 19 23215175 missense possibly damaging 0.59
R7439:Smc5 UTSW 19 23242700 missense probably damaging 0.97
R7596:Smc5 UTSW 19 23214169 missense probably damaging 0.99
R7666:Smc5 UTSW 19 23229017 missense probably benign 0.15
R7760:Smc5 UTSW 19 23235890 missense probably benign 0.01
R7990:Smc5 UTSW 19 23235882 missense probably benign 0.01
R8255:Smc5 UTSW 19 23208926 missense
R8359:Smc5 UTSW 19 23234079 missense possibly damaging 0.49
Posted On2014-05-07