Incidental Mutation 'R2886:Smc6'
ID 261063
Institutional Source Beutler Lab
Gene Symbol Smc6
Ensembl Gene ENSMUSG00000020608
Gene Name structural maintenance of chromosomes 6
Synonyms 3830418C19Rik, Smc6l1, 2810489L22Rik
MMRRC Submission 040474-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2886 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 11315887-11369786 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11326294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 97 (V97A)
Ref Sequence ENSEMBL: ENSMUSP00000151976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020931] [ENSMUST00000217906] [ENSMUST00000218022] [ENSMUST00000218866] [ENSMUST00000219776]
AlphaFold Q924W5
Predicted Effect probably damaging
Transcript: ENSMUST00000020931
AA Change: V97A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: V97A

DomainStartEndE-ValueType
Pfam:SMC_N 53 1077 4.7e-17 PFAM
Pfam:AAA_15 54 438 3.1e-9 PFAM
Pfam:AAA_23 56 398 5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217906
Predicted Effect probably benign
Transcript: ENSMUST00000218022
Predicted Effect probably damaging
Transcript: ENSMUST00000218866
AA Change: V97A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000219776
Meta Mutation Damage Score 0.5777 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit poor embryonic development and embryonic lethality by E105. Mice homozygous for a hypomorphic allele exhibit decreased body weight and weight, decreased litter size and partial lethality. Mice homozygous for a point mutation exhibit a milder phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,035,712 (GRCm39) probably benign Het
Bicdl2 G A 17: 23,885,732 (GRCm39) probably null Het
Cables1 A G 18: 12,072,789 (GRCm39) D448G possibly damaging Het
Casq2 A T 3: 102,051,534 (GRCm39) N338I probably damaging Het
Ccr1l1 T C 9: 123,777,553 (GRCm39) N298S probably damaging Het
Dnajc17 A G 2: 119,009,933 (GRCm39) V231A probably benign Het
Ell2 T C 13: 75,911,904 (GRCm39) S397P probably damaging Het
Gm9966 T C 7: 95,607,753 (GRCm39) C25R unknown Het
H2-DMa A G 17: 34,356,121 (GRCm39) N41S probably damaging Het
Helz2 A G 2: 180,882,535 (GRCm39) M86T probably benign Het
Il17rd T A 14: 26,821,510 (GRCm39) I268N probably damaging Het
Ipcef1 C T 10: 6,850,641 (GRCm39) V317M probably damaging Het
Itgae A T 11: 73,031,513 (GRCm39) E1076D probably benign Het
Kcnq5 A T 1: 21,539,771 (GRCm39) Y382* probably null Het
Kif21b G A 1: 136,075,612 (GRCm39) probably benign Het
Lilrb4a A T 10: 51,367,709 (GRCm39) N84Y probably benign Het
Mdga2 A G 12: 66,553,044 (GRCm39) probably benign Het
Naca T C 10: 127,877,547 (GRCm39) probably benign Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Nrk T C X: 137,876,197 (GRCm39) L466P probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Pkn1 G A 8: 84,407,867 (GRCm39) A421V probably benign Het
Rusc2 A G 4: 43,415,456 (GRCm39) Q254R probably benign Het
Ryr1 G T 7: 28,774,223 (GRCm39) R2404S probably damaging Het
Selenon T C 4: 134,270,380 (GRCm39) D324G probably null Het
Serpinh1 T C 7: 98,998,228 (GRCm39) Y134C probably damaging Het
Serpini2 T C 3: 75,166,921 (GRCm39) Y112C probably damaging Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Sit1 C T 4: 43,483,314 (GRCm39) R50H possibly damaging Het
Slc27a5 T A 7: 12,723,487 (GRCm39) probably benign Het
Slc5a4b C T 10: 75,910,907 (GRCm39) V310M probably damaging Het
Ube2frt A G 12: 36,140,574 (GRCm39) probably benign Het
Usp42 T C 5: 143,707,384 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r82 A G 10: 79,232,082 (GRCm39) I694V probably benign Het
Vmn2r-ps69 T C 7: 84,956,832 (GRCm39) noncoding transcript Het
Zfpm2 A G 15: 40,965,719 (GRCm39) T603A probably benign Het
Other mutations in Smc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Smc6 APN 12 11,349,264 (GRCm39) missense possibly damaging 0.48
IGL00562:Smc6 APN 12 11,351,532 (GRCm39) missense probably benign 0.02
IGL00563:Smc6 APN 12 11,351,532 (GRCm39) missense probably benign 0.02
IGL01420:Smc6 APN 12 11,341,659 (GRCm39) missense probably benign 0.27
IGL02299:Smc6 APN 12 11,340,752 (GRCm39) missense probably benign 0.00
R0207:Smc6 UTSW 12 11,333,179 (GRCm39) unclassified probably benign
R0365:Smc6 UTSW 12 11,333,175 (GRCm39) critical splice donor site probably null
R0669:Smc6 UTSW 12 11,339,165 (GRCm39) missense probably benign 0.41
R0732:Smc6 UTSW 12 11,340,818 (GRCm39) missense probably damaging 0.96
R1398:Smc6 UTSW 12 11,321,880 (GRCm39) splice site probably benign
R1509:Smc6 UTSW 12 11,329,734 (GRCm39) missense possibly damaging 0.55
R1739:Smc6 UTSW 12 11,367,854 (GRCm39) missense probably benign 0.05
R1775:Smc6 UTSW 12 11,359,270 (GRCm39) missense probably benign 0.00
R1815:Smc6 UTSW 12 11,344,602 (GRCm39) critical splice donor site probably null
R1937:Smc6 UTSW 12 11,349,399 (GRCm39) missense probably benign 0.06
R2090:Smc6 UTSW 12 11,339,987 (GRCm39) missense probably benign 0.08
R2885:Smc6 UTSW 12 11,326,294 (GRCm39) missense probably damaging 0.99
R2991:Smc6 UTSW 12 11,339,982 (GRCm39) missense probably damaging 0.96
R3825:Smc6 UTSW 12 11,351,517 (GRCm39) splice site probably benign
R3967:Smc6 UTSW 12 11,348,327 (GRCm39) missense probably benign 0.13
R3975:Smc6 UTSW 12 11,324,075 (GRCm39) missense probably damaging 0.99
R4660:Smc6 UTSW 12 11,324,008 (GRCm39) missense probably damaging 1.00
R5372:Smc6 UTSW 12 11,332,431 (GRCm39) missense probably damaging 1.00
R5412:Smc6 UTSW 12 11,335,400 (GRCm39) missense possibly damaging 0.88
R5523:Smc6 UTSW 12 11,341,540 (GRCm39) missense probably benign 0.31
R5643:Smc6 UTSW 12 11,339,995 (GRCm39) missense probably benign 0.18
R5644:Smc6 UTSW 12 11,339,995 (GRCm39) missense probably benign 0.18
R5782:Smc6 UTSW 12 11,340,835 (GRCm39) missense probably damaging 1.00
R6027:Smc6 UTSW 12 11,356,179 (GRCm39) missense probably benign 0.04
R6083:Smc6 UTSW 12 11,326,354 (GRCm39) missense possibly damaging 0.95
R6344:Smc6 UTSW 12 11,347,107 (GRCm39) intron probably benign
R6374:Smc6 UTSW 12 11,355,874 (GRCm39) splice site probably null
R6430:Smc6 UTSW 12 11,359,235 (GRCm39) missense probably benign 0.00
R6539:Smc6 UTSW 12 11,347,011 (GRCm39) splice site probably null
R6767:Smc6 UTSW 12 11,321,821 (GRCm39) missense possibly damaging 0.93
R7042:Smc6 UTSW 12 11,359,301 (GRCm39) missense probably damaging 1.00
R7128:Smc6 UTSW 12 11,351,632 (GRCm39) missense probably damaging 1.00
R7477:Smc6 UTSW 12 11,321,808 (GRCm39) missense probably benign
R7698:Smc6 UTSW 12 11,333,141 (GRCm39) missense possibly damaging 0.92
R7832:Smc6 UTSW 12 11,367,844 (GRCm39) missense probably benign 0.28
R7863:Smc6 UTSW 12 11,339,130 (GRCm39) missense probably benign 0.00
R8192:Smc6 UTSW 12 11,349,336 (GRCm39) missense probably benign 0.01
R8229:Smc6 UTSW 12 11,341,673 (GRCm39) missense probably benign 0.25
R8289:Smc6 UTSW 12 11,324,052 (GRCm39) missense probably benign 0.41
R9233:Smc6 UTSW 12 11,359,291 (GRCm39) missense probably benign 0.15
R9596:Smc6 UTSW 12 11,345,045 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTTTGCCACTTTACCACTGG -3'
(R):5'- GAAAGCATGCTTCTTACTAGAGAAC -3'

Sequencing Primer
(F):5'- CAGCACTTTCTGTCTCTGA -3'
(R):5'- GCATCTACCCTTCACATGAGGG -3'
Posted On 2015-01-23