Incidental Mutation 'IGL02834:Smc5'
ID361563
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 #IGL02834
Quality Score
Status
Chromosome19
Chromosomal Location23206451-23273897 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 23257604 bp
ZygosityHeterozygous
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]
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
A530099J19Rik A T 13: 19,729,875 noncoding transcript Het
Arhgap10 A T 8: 77,365,100 L430Q probably damaging Het
Cc2d2a C T 5: 43,714,521 R900* probably null Het
Cd14 A G 18: 36,725,503 Y300H probably benign Het
Dgcr8 T A 16: 18,272,759 T584S probably benign Het
Epb41l5 C T 1: 119,623,955 G100D probably benign Het
Fat4 G A 3: 38,956,744 G1998R probably damaging Het
Fndc3b A T 3: 27,508,503 L279H probably damaging Het
Gabrr1 A G 4: 33,151,426 E114G probably damaging Het
Hrh2 A G 13: 54,215,000 R332G probably benign Het
Kif5a T C 10: 127,245,756 I180V probably benign Het
Lyg2 T A 1: 37,909,967 R105W probably damaging Het
Myc A G 15: 61,987,666 I64V probably damaging Het
Nrcam G A 12: 44,541,075 probably null Het
Ogdhl A G 14: 32,325,946 Y51C probably damaging Het
Olfr1339 C T 4: 118,734,606 L26F probably benign Het
Olfr631 T A 7: 103,929,394 C190* probably null Het
Pdlim3 A G 8: 45,917,532 R290G probably benign Het
Ppm1l G A 3: 69,549,343 A198T probably damaging Het
Prkd2 A G 7: 16,845,934 D119G probably damaging Het
Rapgef3 A T 15: 97,748,265 I820N probably damaging Het
Scnn1b A G 7: 121,912,062 Y324C probably damaging Het
Vmn2r51 T A 7: 10,098,136 R508* probably null Het
Vps13c A T 9: 67,937,855 I2074L probably benign Het
Wdr64 T C 1: 175,805,849 probably benign Het
Ydjc C T 16: 17,147,289 P74L probably benign 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
IGL01879:Smc5 APN 19 23228184 missense probably damaging 0.97
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
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
Posted On2015-12-18