Incidental Mutation 'R0893:Smc5'
ID 83630
Institutional Source Beutler Lab
Gene Symbol Smc5
Ensembl Gene ENSMUSG00000024943
Gene Name structural maintenance of chromosomes 5
Synonyms Smc5l1
MMRRC Submission 039056-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0893 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 23183815-23251261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23241017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 165 (V165A)
Ref Sequence ENSEMBL: ENSMUSP00000153364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087556] [ENSMUST00000223934] [ENSMUST00000226111]
AlphaFold Q8CG46
Predicted Effect possibly damaging
Transcript: ENSMUST00000087556
AA Change: V165A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943
AA Change: V165A

DomainStartEndE-ValueType
Pfam:SMC_N 52 1057 9.2e-19 PFAM
Pfam:AAA_23 55 456 1.2e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000223934
AA Change: V165A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224723
Predicted Effect probably benign
Transcript: ENSMUST00000226111
AA Change: V89A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.2941 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,266,082 (GRCm39) probably benign Het
Adnp A T 2: 168,025,647 (GRCm39) F549L possibly damaging Het
Agl A G 3: 116,546,935 (GRCm39) I1305T probably benign Het
Aldh8a1 T A 10: 21,267,593 (GRCm39) M326K probably benign Het
Amdhd1 A T 10: 93,363,513 (GRCm39) M295K probably damaging Het
Arhgef4 T A 1: 34,846,191 (GRCm39) C324S probably damaging Het
Car8 A T 4: 8,238,119 (GRCm39) probably null Het
Cc2d1a T C 8: 84,867,468 (GRCm39) probably benign Het
Cd81 G A 7: 142,616,242 (GRCm39) V27M possibly damaging Het
Ces1b A T 8: 93,806,056 (GRCm39) S62T probably benign Het
Cfb A G 17: 35,077,031 (GRCm39) S30P probably damaging Het
Cmtm3 A G 8: 105,070,543 (GRCm39) M101V possibly damaging Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Ddb1 C T 19: 10,590,280 (GRCm39) S269L probably benign Het
Ddx25 G A 9: 35,465,686 (GRCm39) Q143* probably null Het
Dis3l2 T A 1: 86,971,928 (GRCm39) probably null Het
Dlgap4 G T 2: 156,587,898 (GRCm39) E598* probably null Het
Dus1l C T 11: 120,680,262 (GRCm39) G471D possibly damaging Het
Elp4 C A 2: 105,727,290 (GRCm39) probably benign Het
Eya3 A G 4: 132,417,097 (GRCm39) N194S probably benign Het
Golgb1 G T 16: 36,732,639 (GRCm39) V629L possibly damaging Het
Hars2 G A 18: 36,920,648 (GRCm39) A164T possibly damaging Het
Hexb T A 13: 97,322,135 (GRCm39) I217L probably benign Het
Hgh1 A G 15: 76,253,848 (GRCm39) probably null Het
Hsd3b3 A T 3: 98,649,757 (GRCm39) probably null Het
Ighg2c T A 12: 113,251,053 (GRCm39) N321Y unknown Het
Il5 A G 11: 53,611,763 (GRCm39) T34A probably benign Het
Jph1 C A 1: 17,074,507 (GRCm39) E504* probably null Het
Kif2b G T 11: 91,466,420 (GRCm39) T621K probably benign Het
Kmt2c A T 5: 25,556,268 (GRCm39) probably benign Het
Leprotl1 A G 8: 34,606,006 (GRCm39) probably null Het
Lpar3 C T 3: 145,946,348 (GRCm39) R9C possibly damaging Het
Map1a A G 2: 121,131,014 (GRCm39) E372G probably damaging Het
Map2 C A 1: 66,419,927 (GRCm39) T86K probably damaging Het
Map7 A G 10: 20,149,629 (GRCm39) probably null Het
Mdn1 T C 4: 32,701,713 (GRCm39) V1482A probably benign Het
Mks1 G A 11: 87,747,777 (GRCm39) probably benign Het
Morf4l1 T G 9: 89,984,403 (GRCm39) K102N probably damaging Het
Mroh1 T A 15: 76,293,138 (GRCm39) V304D possibly damaging Het
Mtg1 G A 7: 139,729,665 (GRCm39) V252M probably damaging Het
Myh13 A T 11: 67,225,427 (GRCm39) D264V probably damaging Het
Myh2 A G 11: 67,077,334 (GRCm39) Y823C possibly damaging Het
Myoz1 A T 14: 20,701,252 (GRCm39) S112R probably benign Het
Ncapd2 A G 6: 125,150,445 (GRCm39) V860A probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Npffr1 T C 10: 61,450,010 (GRCm39) F95L possibly damaging Het
Or51f1e G T 7: 102,747,641 (GRCm39) R231L probably benign Het
Or8b9 T C 9: 37,766,492 (GRCm39) I126T probably damaging Het
Orc4 A C 2: 48,822,622 (GRCm39) probably benign Het
P3h3 A C 6: 124,822,476 (GRCm39) I565R probably damaging Het
Pak4 T C 7: 28,259,202 (GRCm39) D552G probably benign Het
Pcdhb4 G T 18: 37,442,423 (GRCm39) probably null Het
Pdcd4 G T 19: 53,917,525 (GRCm39) R454L probably damaging Het
Phf8-ps T C 17: 33,284,263 (GRCm39) I846M probably benign Het
Pkd1l2 A G 8: 117,771,231 (GRCm39) I1116T probably damaging Het
Plcb2 A G 2: 118,555,586 (GRCm39) probably benign Het
Pmpca T C 2: 26,283,230 (GRCm39) probably benign Het
Pnpla7 T A 2: 24,887,252 (GRCm39) I32N probably damaging Het
Prpf8 A G 11: 75,384,775 (GRCm39) K718E probably damaging Het
Racgap1 C T 15: 99,524,411 (GRCm39) A359T probably benign Het
Rgs3 G A 4: 62,523,798 (GRCm39) probably null Het
Rhpn1 A G 15: 75,583,503 (GRCm39) E356G probably damaging Het
Rps6ka5 T C 12: 100,540,697 (GRCm39) H488R possibly damaging Het
Scn11a A G 9: 119,632,396 (GRCm39) probably null Het
Sema4f A T 6: 82,912,948 (GRCm39) probably benign Het
Serpina1f A G 12: 103,660,094 (GRCm39) S63P probably damaging Het
Slc9a3 T C 13: 74,307,365 (GRCm39) W386R probably damaging Het
Slc9b1 A C 3: 135,100,651 (GRCm39) L465F probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tinagl1 G T 4: 130,067,816 (GRCm39) D59E probably damaging Het
Tns3 A G 11: 8,443,302 (GRCm39) Y354H probably damaging Het
Trappc9 C T 15: 72,461,956 (GRCm39) G1103D probably damaging Het
Unc79 A T 12: 102,957,687 (GRCm39) D34V probably damaging Het
Unc80 T C 1: 66,560,645 (GRCm39) L791P probably damaging Het
Unc93a2 A G 17: 7,641,926 (GRCm39) L174P probably damaging Het
Xpo7 G T 14: 70,903,537 (GRCm39) probably benign Het
Zbtb1 T A 12: 76,432,113 (GRCm39) I33N 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
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
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
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
Predicted Primers PCR Primer
(F):5'- AGTGCTGTGCTGAATGCAAAGAGT -3'
(R):5'- CCAATGTTTCCAAGGTGGGAAGGAT -3'

Sequencing Primer
(F):5'- ggaggggaggtggaggg -3'
(R):5'- CCAAGGTGGGAAGGATTCAAAAATAC -3'
Posted On 2013-11-08