Incidental Mutation 'IGL02186:Smc5'
ID 283631
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 # IGL02186
Quality Score
Status
Chromosome 19
Chromosomal Location 23183815-23251261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23209223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 647 (V647A)
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: V647A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943
AA Change: V647A

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: V647A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226111
AA Change: V571A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 66,145,811 (GRCm39) F100S unknown Het
Abca3 A G 17: 24,596,714 (GRCm39) Y389C possibly damaging Het
Acrbp G T 6: 125,031,773 (GRCm39) probably null Het
Adam21 G A 12: 81,605,983 (GRCm39) T593I possibly damaging Het
Adipor1 T A 1: 134,353,698 (GRCm39) M161K probably benign Het
Agrp A T 8: 106,293,821 (GRCm39) N48K probably benign Het
Asprv1 A T 6: 86,605,900 (GRCm39) M249L probably damaging Het
Begain A G 12: 108,999,278 (GRCm39) Y703H probably damaging Het
Bspry T A 4: 62,414,226 (GRCm39) probably benign Het
Cct8l1 T G 5: 25,721,836 (GRCm39) S184A probably benign Het
Cdk13 C T 13: 17,947,112 (GRCm39) V549I probably benign Het
Cdyl2 C T 8: 117,306,025 (GRCm39) R412Q possibly damaging Het
Celf6 T C 9: 59,510,808 (GRCm39) S205P probably damaging Het
Cltc G A 11: 86,595,811 (GRCm39) A1263V possibly damaging Het
Cltc C A 11: 86,595,812 (GRCm39) A1263S possibly damaging Het
Ctnnd2 T A 15: 30,480,939 (GRCm39) F62L probably damaging Het
Dlec1 T A 9: 118,972,695 (GRCm39) C1473S probably benign Het
Dmbt1 T A 7: 130,694,986 (GRCm39) probably benign Het
Dnase1 G A 16: 3,856,896 (GRCm39) V176I probably benign Het
Dusp1 G T 17: 26,726,032 (GRCm39) Y220* probably null Het
Enpp3 A C 10: 24,667,881 (GRCm39) probably benign Het
Exosc10 T C 4: 148,649,755 (GRCm39) L395P probably damaging Het
Fn1 T C 1: 71,677,693 (GRCm39) K533R probably damaging Het
Gcm2 T A 13: 41,258,125 (GRCm39) T168S possibly damaging Het
Gm9924 C A 5: 31,252,491 (GRCm39) probably benign Het
Ifrd1 A G 12: 40,264,092 (GRCm39) V101A probably benign Het
Iqsec1 G T 6: 90,653,859 (GRCm39) Q629K probably damaging Het
Kcnma1 T A 14: 23,576,881 (GRCm39) M254L probably benign Het
Krit1 T C 5: 3,859,733 (GRCm39) probably benign Het
Letm1 T C 5: 33,902,391 (GRCm39) K633E probably benign Het
Mfsd1 A G 3: 67,503,928 (GRCm39) I307V probably benign Het
Mtrr T C 13: 68,712,476 (GRCm39) T637A probably benign Het
Naxe C A 3: 87,964,305 (GRCm39) D212Y probably damaging Het
Nlk A T 11: 78,477,762 (GRCm39) V327D probably damaging Het
Or2f1b A G 6: 42,739,880 (GRCm39) K298R probably null Het
Or5w11 A T 2: 87,459,715 (GRCm39) I187F probably benign Het
Pdzd8 C T 19: 59,289,060 (GRCm39) G780D probably damaging Het
Prune1 T C 3: 95,166,548 (GRCm39) probably benign Het
Qser1 A T 2: 104,618,606 (GRCm39) H645Q probably damaging Het
Rd3l A G 12: 111,945,901 (GRCm39) Y193H probably benign Het
Reln A G 5: 22,114,956 (GRCm39) Y3119H probably damaging Het
Scel C T 14: 103,802,257 (GRCm39) A219V probably benign Het
Skint11 A T 4: 114,101,833 (GRCm39) Q91L possibly damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Slc5a5 C A 8: 71,338,764 (GRCm39) D516Y possibly damaging Het
Slc8b1 G A 5: 120,665,928 (GRCm39) probably null Het
Slc9a3 A G 13: 74,311,233 (GRCm39) E576G possibly damaging Het
Slco1b2 A T 6: 141,580,271 (GRCm39) probably benign Het
Snph T C 2: 151,436,263 (GRCm39) N222D possibly damaging Het
Srbd1 A G 17: 86,416,659 (GRCm39) F500L probably benign Het
Stxbp6 T C 12: 44,948,806 (GRCm39) D101G probably damaging Het
Taar7b A G 10: 23,875,879 (GRCm39) I15V probably benign Het
Tdrd12 G T 7: 35,200,826 (GRCm39) N338K probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Tmem219 A T 7: 126,495,988 (GRCm39) D128E probably benign Het
Togaram2 A G 17: 71,992,166 (GRCm39) T3A possibly damaging Het
Ttn C T 2: 76,724,627 (GRCm39) probably benign Het
Uchl1 C A 5: 66,834,382 (GRCm39) C47* probably null Het
Unc79 T G 12: 102,977,542 (GRCm39) S182A probably benign Het
Vmn2r1 A G 3: 63,989,138 (GRCm39) T26A probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vps54 T C 11: 21,256,947 (GRCm39) V685A probably damaging Het
Zcchc7 T G 4: 44,762,250 (GRCm39) V126G possibly damaging Het
Zmym2 A G 14: 57,180,808 (GRCm39) T907A probably benign 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
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
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 2015-04-16