Incidental Mutation 'R8255:Smc5'
ID 640630
Institutional Source Beutler Lab
Gene Symbol Smc5
Ensembl Gene ENSMUSG00000024943
Gene Name structural maintenance of chromosomes 5
Synonyms Smc5l1
MMRRC Submission 067681-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8255 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 23183815-23251261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23186290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 1056 (F1056I)
Ref Sequence ENSEMBL: ENSMUSP00000084837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087556]
AlphaFold Q8CG46
Predicted Effect
SMART Domains Protein: ENSMUSP00000084837
Gene: ENSMUSG00000024943
AA Change: F1056I

DomainStartEndE-ValueType
Pfam:SMC_N 52 1057 9.2e-19 PFAM
Pfam:AAA_23 55 456 1.2e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (46/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,415,850 (GRCm39) T648S possibly damaging Het
Abca12 T A 1: 71,359,058 (GRCm39) I583F probably benign Het
Abca4 A T 3: 121,948,926 (GRCm39) M1732L probably benign Het
Ank2 A G 3: 126,740,398 (GRCm39) S1742P unknown Het
Birc6 G A 17: 74,969,775 (GRCm39) A4273T probably damaging Het
Chd5 A G 4: 152,463,880 (GRCm39) T1450A probably damaging Het
Dhx32 T C 7: 133,339,120 (GRCm39) N305S probably benign Het
Dnah7c T C 1: 46,698,589 (GRCm39) S2174P probably damaging Het
Fat2 T A 11: 55,161,101 (GRCm39) I3210F probably benign Het
Gm12888 A G 4: 121,181,994 (GRCm39) S33P probably damaging Het
Gpaa1 T C 15: 76,217,438 (GRCm39) L292P probably damaging Het
Gzmg T A 14: 56,395,753 (GRCm39) R69W probably damaging Het
Hat1 A G 2: 71,239,347 (GRCm39) D40G probably damaging Het
Hcrtr2 T A 9: 76,140,203 (GRCm39) I362F probably damaging Het
Hmmr T C 11: 40,598,262 (GRCm39) E650G probably damaging Het
Ifi35 A T 11: 101,348,608 (GRCm39) M180L probably benign Het
Ifi44 A T 3: 151,451,619 (GRCm39) H162Q probably benign Het
Il1rl2 T C 1: 40,404,471 (GRCm39) F531L probably damaging Het
Ipcef1 T G 10: 6,870,007 (GRCm39) K182T probably benign Het
Med27 C A 2: 29,414,376 (GRCm39) probably null Het
Med31 G A 11: 72,106,294 (GRCm39) probably benign Het
Moxd1 A G 10: 24,099,700 (GRCm39) T67A probably benign Het
Myh3 A G 11: 66,985,848 (GRCm39) E1266G probably damaging Het
Nkx2-4 C A 2: 146,925,924 (GRCm39) E313* probably null Het
Nol6 G T 4: 41,120,168 (GRCm39) R487S probably benign Het
Or2v1 C A 11: 49,025,307 (GRCm39) A96D probably benign Het
Or2z8 T A 8: 72,811,607 (GRCm39) F28I possibly damaging Het
Or4k15c C T 14: 50,321,329 (GRCm39) V270I noncoding transcript Het
Or5p51 A G 7: 107,444,368 (GRCm39) S191P probably damaging Het
Rnf135 A G 11: 80,084,713 (GRCm39) D162G probably benign Het
Sdr42e1 G T 8: 118,390,502 (GRCm39) N46K probably benign Het
Skor2 T C 18: 76,946,664 (GRCm39) S129P unknown Het
Slc7a11 A T 3: 50,382,177 (GRCm39) I190N probably damaging Het
Son A T 16: 91,461,824 (GRCm39) Q2243L unknown Het
Sult1a1 T A 7: 126,274,280 (GRCm39) I101F possibly damaging Het
Sult3a2 T C 10: 33,655,747 (GRCm39) I77M probably benign Het
Tas1r1 A T 4: 152,116,774 (GRCm39) S287T probably benign Het
Thbs3 A C 3: 89,132,565 (GRCm39) T836P probably benign Het
Tlcd3b G A 7: 126,423,275 (GRCm39) V6M probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tnfrsf8 A T 4: 145,041,653 (GRCm39) M1K probably null Het
Vmn1r121 T G 7: 20,831,679 (GRCm39) N254H probably benign Het
Vmn1r179 C T 7: 23,628,436 (GRCm39) A209V probably benign Het
Wdr31 A T 4: 62,381,634 (GRCm39) S66T probably benign Het
Zbtb18 T C 1: 177,275,003 (GRCm39) V121A probably damaging Het
Zfp30 T A 7: 29,488,826 (GRCm39) M82K probably benign Het
Zzef1 A G 11: 72,765,955 (GRCm39) Q1494R 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
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
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
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'- CTTTTATTCACTTGAGCGAGCG -3'
(R):5'- TAAATAGAGAGGATTTCCGGGC -3'

Sequencing Primer
(F):5'- TTGAGCGAGCGACACATATAAAC -3'
(R):5'- TCAGTAATTAGGCCAGGCTTCAG -3'
Posted On 2020-07-28