Incidental Mutation 'IGL02299:Smc6'
ID290240
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smc6
Ensembl Gene ENSMUSG00000020608
Gene Namestructural maintenance of chromosomes 6
Synonyms2810489L22Rik, 3830418C19Rik, Smc6l1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02299
Quality Score
Status
Chromosome12
Chromosomal Location11265886-11319785 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11290751 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 468 (N468S)
Ref Sequence ENSEMBL: ENSMUSP00000020931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020931] [ENSMUST00000218022] [ENSMUST00000218866]
Predicted Effect probably benign
Transcript: ENSMUST00000020931
AA Change: N468S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: N468S

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
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot3 C T 12: 84,058,811 Q351* probably null Het
Ano1 T A 7: 144,590,075 H993L possibly damaging Het
Atp2c1 A T 9: 105,461,087 probably benign Het
Cd81 T C 7: 143,065,278 I13T probably damaging Het
Clasp2 T A 9: 113,879,989 D633E probably damaging Het
Ctif T C 18: 75,637,245 E23G probably damaging Het
Dnah3 G T 7: 119,967,579 L2475I probably benign Het
Fscn2 A G 11: 120,362,199 D164G probably benign Het
Igfn1 A G 1: 135,954,017 probably benign Het
Mast4 A T 13: 102,737,974 S1629T probably benign Het
Mpp4 C A 1: 59,158,579 probably benign Het
Nmi T A 2: 51,958,964 N38I probably damaging Het
Nod2 T A 8: 88,663,742 L226M possibly damaging Het
Notch4 T C 17: 34,578,004 S909P probably damaging Het
Oas1a A T 5: 120,905,692 W126R probably benign Het
Pcdhb5 T C 18: 37,320,890 F108L probably benign Het
Plxna4 G A 6: 32,165,156 P1589S probably benign Het
Qtrt1 A G 9: 21,411,949 E32G probably benign Het
S100a3 A G 3: 90,602,255 E69G possibly damaging Het
Slc1a6 C A 10: 78,793,303 P185T probably damaging Het
Slc8a3 T A 12: 81,315,224 I274F probably damaging Het
Tep1 A G 14: 50,840,671 L1567P probably damaging Het
Ugt2b37 G A 5: 87,242,315 S424L probably benign Het
Urgcp A G 11: 5,717,573 L255P probably damaging Het
Vmn2r44 T A 7: 8,377,816 K359N probably benign Het
Xpo1 T A 11: 23,293,915 probably benign Het
Other mutations in Smc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Smc6 APN 12 11299263 missense possibly damaging 0.48
IGL00562:Smc6 APN 12 11301531 missense probably benign 0.02
IGL00563:Smc6 APN 12 11301531 missense probably benign 0.02
IGL01420:Smc6 APN 12 11291658 missense probably benign 0.27
R0207:Smc6 UTSW 12 11283178 unclassified probably benign
R0365:Smc6 UTSW 12 11283174 critical splice donor site probably null
R0669:Smc6 UTSW 12 11289164 missense probably benign 0.41
R0732:Smc6 UTSW 12 11290817 missense probably damaging 0.96
R1398:Smc6 UTSW 12 11271879 splice site probably benign
R1509:Smc6 UTSW 12 11279733 missense possibly damaging 0.55
R1739:Smc6 UTSW 12 11317853 missense probably benign 0.05
R1775:Smc6 UTSW 12 11309269 missense probably benign 0.00
R1815:Smc6 UTSW 12 11294601 critical splice donor site probably null
R1937:Smc6 UTSW 12 11299398 missense probably benign 0.06
R2090:Smc6 UTSW 12 11289986 missense probably benign 0.08
R2885:Smc6 UTSW 12 11276293 missense probably damaging 0.99
R2886:Smc6 UTSW 12 11276293 missense probably damaging 0.99
R2991:Smc6 UTSW 12 11289981 missense probably damaging 0.96
R3825:Smc6 UTSW 12 11301516 splice site probably benign
R3967:Smc6 UTSW 12 11298326 missense probably benign 0.13
R3975:Smc6 UTSW 12 11274074 missense probably damaging 0.99
R4660:Smc6 UTSW 12 11274007 missense probably damaging 1.00
R5372:Smc6 UTSW 12 11282430 missense probably damaging 1.00
R5412:Smc6 UTSW 12 11285399 missense possibly damaging 0.88
R5523:Smc6 UTSW 12 11291539 missense probably benign 0.31
R5643:Smc6 UTSW 12 11289994 missense probably benign 0.18
R5644:Smc6 UTSW 12 11289994 missense probably benign 0.18
R5782:Smc6 UTSW 12 11290834 missense probably damaging 1.00
R6027:Smc6 UTSW 12 11306178 missense probably benign 0.04
R6083:Smc6 UTSW 12 11276353 missense possibly damaging 0.95
R6344:Smc6 UTSW 12 11297106 intron probably benign
R6374:Smc6 UTSW 12 11305873 intron probably null
R6430:Smc6 UTSW 12 11309234 missense probably benign 0.00
R6539:Smc6 UTSW 12 11297010 unclassified probably null
R6767:Smc6 UTSW 12 11271820 missense possibly damaging 0.93
R7042:Smc6 UTSW 12 11309300 missense probably damaging 1.00
R7128:Smc6 UTSW 12 11301631 missense probably damaging 1.00
Posted On2015-04-16