Incidental Mutation 'IGL02383:Smc5'
ID291475
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 #IGL02383
Quality Score
Status
Chromosome19
Chromosomal Location23206451-23273897 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 23214632 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087556] [ENSMUST00000223934] [ENSMUST00000226111]
Predicted Effect probably benign
Transcript: ENSMUST00000087556
SMART Domains Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224441
Predicted Effect probably benign
Transcript: ENSMUST00000226111
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T C 6: 133,292,242 probably benign Het
Adap2 C A 11: 80,160,189 A115D probably damaging Het
Ankrd1 A G 19: 36,119,765 V6A probably benign Het
Apobr T A 7: 126,586,607 V430E probably benign Het
Apopt1 T A 12: 111,724,413 probably benign Het
Arhgap28 A G 17: 67,896,089 V123A probably benign Het
Atp2b2 A G 6: 113,813,942 V167A probably damaging Het
B3galnt2 A T 13: 13,997,033 *505C probably null Het
Bcat2 T A 7: 45,588,007 L305Q probably damaging Het
Col9a1 T C 1: 24,185,258 S174P unknown Het
Ddx41 A T 13: 55,532,357 D418E probably benign Het
Exoc6 T C 19: 37,578,474 F240L probably benign Het
Fbln7 G A 2: 128,895,557 V431I probably benign Het
Gfral T A 9: 76,197,092 N213Y probably damaging Het
Gm15292 A G 8: 21,250,361 D61G probably damaging Het
Golgb1 A G 16: 36,886,200 D22G probably benign Het
H2-M1 G A 17: 36,670,249 T298I unknown Het
Haus3 A T 5: 34,166,236 Y343* probably null Het
Hid1 T C 11: 115,352,620 E534G probably damaging Het
Il4ra T C 7: 125,571,504 V196A probably benign Het
Itm2b C A 14: 73,363,096 E255* probably null Het
Kidins220 A T 12: 24,997,333 probably benign Het
Klhl22 T A 16: 17,776,898 F297Y possibly damaging Het
Krt9 T C 11: 100,191,215 E253G probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Map3k6 T A 4: 133,246,621 probably null Het
Med29 C A 7: 28,387,023 R120L possibly damaging Het
Napa C T 7: 16,112,578 probably benign Het
Ncapd3 T A 9: 27,050,328 Y351N probably benign Het
Nphs1 C T 7: 30,481,635 probably benign Het
Olfr1442 A G 19: 12,674,535 D110G probably benign Het
Prss16 T C 13: 22,009,527 I33V probably benign Het
Ripk1 A G 13: 34,015,244 Y193C probably damaging Het
Rph3a C T 5: 120,963,939 R78H probably damaging Het
Rrp9 T A 9: 106,485,272 I452N probably damaging Het
Ryr2 A T 13: 11,722,721 probably benign Het
Sec23a A G 12: 59,002,027 L103P probably damaging Het
Slc17a9 A C 2: 180,735,881 D190A probably benign Het
Slc44a4 G A 17: 34,927,710 V422I probably benign Het
Tax1bp1 C T 6: 52,753,366 S611F probably benign Het
Tmem38b G A 4: 53,854,345 M192I probably benign Het
Unc45a G T 7: 80,339,662 C34* probably null Het
Usp46 T A 5: 74,029,353 M6L probably benign Het
Uspl1 G A 5: 149,213,402 V471M probably damaging Het
Vmn1r35 T A 6: 66,678,891 Q265L probably damaging Het
Vmn1r35 G T 6: 66,678,892 Q265K probably damaging Het
Vmn1r50 A G 6: 90,107,479 I69V possibly damaging Het
Vps33b A G 7: 80,285,334 probably null Het
Xntrpc A C 7: 102,093,595 D604A probably damaging Het
Yeats4 T A 10: 117,215,811 R180S 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
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 On2015-04-16