Incidental Mutation 'R2991:Smc6'
ID 257914
Institutional Source Beutler Lab
Gene Symbol Smc6
Ensembl Gene ENSMUSG00000020608
Gene Name structural maintenance of chromosomes 6
Synonyms 3830418C19Rik, Smc6l1, 2810489L22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2991 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 11315887-11369786 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11339982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 430 (E430G)
Ref Sequence ENSEMBL: ENSMUSP00000020931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020931] [ENSMUST00000218022] [ENSMUST00000218866]
AlphaFold Q924W5
Predicted Effect probably damaging
Transcript: ENSMUST00000020931
AA Change: E430G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: E430G

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: ENSMUST00000217930
Predicted Effect probably benign
Transcript: ENSMUST00000217991
Predicted Effect probably benign
Transcript: ENSMUST00000218022
Predicted Effect probably benign
Transcript: ENSMUST00000218866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220289
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T A 9: 30,832,690 (GRCm39) T282S probably benign Het
Asic2 C A 11: 81,858,863 (GRCm39) V50L probably benign Het
Cdadc1 T C 14: 59,823,521 (GRCm39) M324V possibly damaging Het
Cdcp3 A T 7: 130,848,429 (GRCm39) D861V probably damaging Het
Col12a1 A T 9: 79,607,547 (GRCm39) V427D probably damaging Het
Col3a1 C A 1: 45,374,939 (GRCm39) probably benign Het
Esp24 A T 17: 39,350,894 (GRCm39) E31D possibly damaging Het
Igkv14-100 T A 6: 68,496,335 (GRCm39) L76* probably null Het
Itsn2 T C 12: 4,708,474 (GRCm39) V843A probably benign Het
Llgl2 T C 11: 115,741,946 (GRCm39) S663P probably benign Het
Lsg1 T C 16: 30,380,547 (GRCm39) N630S probably damaging Het
Lypd8l C T 11: 58,501,516 (GRCm39) V156I possibly damaging Het
Msh4 A G 3: 153,611,497 (GRCm39) V42A probably benign Het
Nkx6-1 T C 5: 101,807,401 (GRCm39) Y327C probably damaging Het
Or9i1b G A 19: 13,896,675 (GRCm39) C97Y probably damaging Het
Pde4a T C 9: 21,114,539 (GRCm39) S369P probably damaging Het
Pkdrej T C 15: 85,704,137 (GRCm39) I600V probably benign Het
Plekhg6 T C 6: 125,347,432 (GRCm39) E479G probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rgmb A T 17: 16,041,352 (GRCm39) D78E probably damaging Het
Samd12 C T 15: 53,723,592 (GRCm39) E34K probably damaging Het
Slc22a21 T G 11: 53,850,195 (GRCm39) E220A probably damaging Het
Snx15 C A 19: 6,171,515 (GRCm39) L186F probably damaging Het
Tiam2 A G 17: 3,568,525 (GRCm39) E1557G probably benign Het
Vwa8 A T 14: 79,232,589 (GRCm39) T644S probably benign Het
Zcchc4 T A 5: 52,961,780 (GRCm39) F247Y probably damaging Het
Zmynd11 A G 13: 9,745,858 (GRCm39) V165A probably damaging 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
R2886:Smc6 UTSW 12 11,326,294 (GRCm39) missense probably damaging 0.99
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'- CACTGTGGAATGCTGCATCTTTG -3'
(R):5'- CCCACAGATTGCTAAAATGTACAAG -3'

Sequencing Primer
(F):5'- TGTTGGTTTTAATGAAAGTTGCTTAC -3'
(R):5'- CAGGCTAGTCCGGATTACACAATG -3'
Posted On 2015-01-11