Incidental Mutation 'IGL01420:Smc6'
ID 80393
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01420
Quality Score
Status
Chromosome 12
Chromosomal Location 11315887-11369786 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11341659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 559 (Y559C)
Ref Sequence ENSEMBL: ENSMUSP00000020931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020931] [ENSMUST00000218022] [ENSMUST00000218866]
AlphaFold Q924W5
Predicted Effect probably benign
Transcript: ENSMUST00000020931
AA Change: Y559C

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020931
Gene: ENSMUSG00000020608
AA Change: Y559C

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,920,637 (GRCm39) probably benign Het
Actr6 A T 10: 89,561,027 (GRCm39) probably benign Het
Adamts3 A T 5: 89,850,916 (GRCm39) M541K possibly damaging Het
Adgre4 T C 17: 56,106,785 (GRCm39) probably benign Het
Anxa6 T C 11: 54,883,189 (GRCm39) Y481C probably damaging Het
Apbb1ip A T 2: 22,748,292 (GRCm39) I371F possibly damaging Het
Arhgef10l T C 4: 140,297,649 (GRCm39) D261G probably damaging Het
Bche T C 3: 73,609,342 (GRCm39) H28R probably benign Het
C2cd3 T C 7: 100,104,065 (GRCm39) V2026A probably benign Het
Cacna1d C T 14: 29,773,595 (GRCm39) V1697I probably benign Het
Celsr2 T C 3: 108,301,079 (GRCm39) H2738R probably benign Het
Celsr3 A G 9: 108,718,389 (GRCm39) probably null Het
Cep152 A T 2: 125,405,572 (GRCm39) D1653E possibly damaging Het
Cfap57 T A 4: 118,470,137 (GRCm39) I248F probably benign Het
Clcnka C A 4: 141,116,643 (GRCm39) R536L probably benign Het
Dao T A 5: 114,161,881 (GRCm39) probably benign Het
Dnajc10 T C 2: 80,175,367 (GRCm39) S585P possibly damaging Het
Dysf C T 6: 84,126,741 (GRCm39) Q1333* probably null Het
Eps8l2 T A 7: 140,937,576 (GRCm39) S397T probably benign Het
Fap A G 2: 62,334,846 (GRCm39) probably benign Het
Fbf1 T C 11: 116,036,822 (GRCm39) T971A probably benign Het
Fbxl17 C T 17: 63,692,047 (GRCm39) V22M probably damaging Het
Fcgbpl1 T A 7: 27,839,558 (GRCm39) M457K probably benign Het
Fundc2 T C X: 74,434,471 (GRCm39) probably benign Het
Heyl C A 4: 123,133,967 (GRCm39) Q42K probably damaging Het
Hyal4 A G 6: 24,755,871 (GRCm39) K30E probably benign Het
Igsf10 T C 3: 59,227,071 (GRCm39) I2201V probably benign Het
Il34 T C 8: 111,469,345 (GRCm39) K157E probably damaging Het
Kcnj13 T C 1: 87,316,766 (GRCm39) T116A probably damaging Het
Lpl T C 8: 69,340,085 (GRCm39) probably benign Het
Mcm6 A G 1: 128,273,612 (GRCm39) L406P probably damaging Het
Mst1 G A 9: 107,960,027 (GRCm39) R328H probably damaging Het
Nadk2 T C 15: 9,103,072 (GRCm39) S308P probably damaging Het
Nae1 G T 8: 105,249,797 (GRCm39) Q225K probably benign Het
Ncoa6 G A 2: 155,249,507 (GRCm39) P1266S probably damaging Het
Neb A G 2: 52,047,389 (GRCm39) Y6485H probably damaging Het
Nin G A 12: 70,092,188 (GRCm39) A707V probably benign Het
Nmur1 T C 1: 86,315,113 (GRCm39) T218A probably benign Het
Npr3 T C 15: 11,858,718 (GRCm39) N135D probably damaging Het
Nup107 A T 10: 117,620,926 (GRCm39) L142Q probably damaging Het
Pdgfc T A 3: 81,048,750 (GRCm39) S53T probably benign Het
Plxdc2 T A 2: 16,654,950 (GRCm39) V232D probably damaging Het
Pou2f2 T C 7: 24,792,377 (GRCm39) N493D possibly damaging Het
Rtel1 T C 2: 180,996,194 (GRCm39) I750T probably benign Het
Sbk1 A G 7: 125,891,184 (GRCm39) probably null Het
Sec24d A G 3: 123,143,658 (GRCm39) N603S probably benign Het
Slc38a10 T A 11: 119,997,286 (GRCm39) E736V probably damaging Het
Sprr4 A T 3: 92,407,691 (GRCm39) V37E unknown Het
Sptbn2 A G 19: 4,784,153 (GRCm39) T632A probably benign Het
Trim31 A G 17: 37,209,303 (GRCm39) M20V probably benign Het
Trim65 C A 11: 116,017,335 (GRCm39) V376L probably damaging Het
Ttn T C 2: 76,542,420 (GRCm39) D25195G probably damaging Het
Tysnd1 A G 10: 61,537,830 (GRCm39) T503A possibly damaging Het
Vtn A T 11: 78,390,200 (GRCm39) I9L probably benign Het
Zfp398 A G 6: 47,842,868 (GRCm39) M175V 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
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
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
Posted On 2013-11-05