Incidental Mutation 'IGL02379:Smg6'
ID 291277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smg6
Ensembl Gene ENSMUSG00000038290
Gene Name SMG6 nonsense mediated mRNA decay factor
Synonyms Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02379
Quality Score
Status
Chromosome 11
Chromosomal Location 74816665-75055274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 74944751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 167 (P167T)
Ref Sequence ENSEMBL: ENSMUSP00000120060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045281] [ENSMUST00000140197]
AlphaFold P61406
Predicted Effect probably damaging
Transcript: ENSMUST00000045281
AA Change: P1106T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043555
Gene: ENSMUSG00000038290
AA Change: P1106T

DomainStartEndE-ValueType
internal_repeat_1 42 99 7.68e-6 PROSPERO
internal_repeat_1 135 188 7.68e-6 PROSPERO
low complexity region 212 227 N/A INTRINSIC
low complexity region 257 271 N/A INTRINSIC
low complexity region 376 390 N/A INTRINSIC
low complexity region 417 426 N/A INTRINSIC
low complexity region 436 453 N/A INTRINSIC
low complexity region 538 549 N/A INTRINSIC
coiled coil region 574 600 N/A INTRINSIC
Pfam:EST1 637 742 1.8e-18 PFAM
Pfam:EST1_DNA_bind 750 1106 1.6e-78 PFAM
coiled coil region 1197 1234 N/A INTRINSIC
PINc 1245 1396 2.85e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130145
SMART Domains Protein: ENSMUSP00000120229
Gene: ENSMUSG00000038290

DomainStartEndE-ValueType
coiled coil region 35 61 N/A INTRINSIC
Pfam:EST1 99 204 1.3e-19 PFAM
Pfam:EST1_DNA_bind 212 339 7.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140197
AA Change: P167T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120060
Gene: ENSMUSG00000038290
AA Change: P167T

DomainStartEndE-ValueType
Pfam:EST1_DNA_bind 2 167 4.9e-25 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygosity for insertion of a transgene into intron 6 of the gene results in embryonic lethality. Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for a conditional allele activated in embryonic stem cells exhibit defective telomere maintenance and NMD. [provided by MGI curators]
Allele List at MGI

All alleles(52) : Gene trapped(52)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,760,106 (GRCm39) I996F probably damaging Het
Adamts9 T A 6: 92,774,014 (GRCm39) D1133V probably damaging Het
Adi1 T A 12: 28,729,466 (GRCm39) D106E probably damaging Het
Agl A G 3: 116,572,740 (GRCm39) F837S probably damaging Het
Alb T A 5: 90,613,738 (GRCm39) D207E probably benign Het
Alms1 T G 6: 85,606,615 (GRCm39) V2286G probably damaging Het
Alpl G A 4: 137,469,869 (GRCm39) A485V probably damaging Het
Antxrl C A 14: 33,778,492 (GRCm39) probably null Het
Apc C T 18: 34,431,798 (GRCm39) T417I probably benign Het
Ash2l T C 8: 26,312,799 (GRCm39) D390G probably damaging Het
Asph G A 4: 9,474,980 (GRCm39) P582S probably damaging Het
Bcr T A 10: 74,992,980 (GRCm39) L825Q probably benign Het
Bhlha15 T A 5: 144,128,159 (GRCm39) N90K probably damaging Het
Cgnl1 T A 9: 71,552,835 (GRCm39) Y1043F possibly damaging Het
Chek1 T C 9: 36,635,242 (GRCm39) D47G probably benign Het
Clca4b T A 3: 144,627,619 (GRCm39) M451L probably benign Het
Csnk1g3 T C 18: 54,066,564 (GRCm39) S346P probably benign Het
Cspg4 G T 9: 56,799,893 (GRCm39) probably benign Het
Ctr9 A G 7: 110,650,726 (GRCm39) K884E probably damaging Het
Cyld T A 8: 89,471,556 (GRCm39) C813* probably null Het
Fn3k A T 11: 121,325,950 (GRCm39) T46S probably benign Het
Foxred1 T C 9: 35,121,282 (GRCm39) R89G probably benign Het
Gpr174 T C X: 106,337,084 (GRCm39) F299L probably damaging Het
Hdac7 T C 15: 97,706,266 (GRCm39) D312G probably damaging Het
Il36b A G 2: 24,044,650 (GRCm39) S17G probably benign Het
Kcna5 G T 6: 126,511,472 (GRCm39) P219T probably damaging Het
Kcnh2 A C 5: 24,531,636 (GRCm39) V425G probably damaging Het
Klk1b5 A G 7: 43,500,246 (GRCm39) N278S probably damaging Het
Mars2 T A 1: 55,277,212 (GRCm39) W272R probably damaging Het
Msl3l2 C A 10: 55,992,017 (GRCm39) S247R possibly damaging Het
Myh7 T C 14: 55,216,925 (GRCm39) E1144G probably damaging Het
Nefm T C 14: 68,357,688 (GRCm39) probably benign Het
Nwd2 A G 5: 63,962,644 (GRCm39) K743E probably damaging Het
Nyap2 C T 1: 81,065,147 (GRCm39) T53I probably damaging Het
Odad4 A T 11: 100,457,809 (GRCm39) N471Y possibly damaging Het
Or10ag58 T C 2: 87,265,668 (GRCm39) V279A probably benign Het
Or52z12 T C 7: 103,234,099 (GRCm39) V290A possibly damaging Het
Peli2 A G 14: 48,405,755 (GRCm39) H60R probably damaging Het
Pias2 T A 18: 77,232,844 (GRCm39) probably benign Het
Pik3c2b A G 1: 133,022,529 (GRCm39) D1157G probably damaging Het
Pip4k2a C T 2: 18,870,922 (GRCm39) probably null Het
Raf1 A T 6: 115,621,509 (GRCm39) D23E probably benign Het
Rhox10 G A X: 37,155,733 (GRCm39) R87H probably benign Het
Rpgrip1 A G 14: 52,376,345 (GRCm39) T449A possibly damaging Het
Serpina3a T A 12: 104,084,919 (GRCm39) S105T probably benign Het
Slc12a9 T G 5: 137,319,691 (GRCm39) Q608P probably damaging Het
Spata7 C T 12: 98,600,519 (GRCm39) T44I probably damaging Het
Spink12 C T 18: 44,239,575 (GRCm39) probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stag2 C T X: 41,339,474 (GRCm39) T754I probably benign Het
Supt6 C T 11: 78,116,195 (GRCm39) V723M possibly damaging Het
Ubr3 A G 2: 69,778,832 (GRCm39) D614G possibly damaging Het
Vps39 T A 2: 120,154,089 (GRCm39) K624N probably benign Het
Vwa5b1 A T 4: 138,340,170 (GRCm39) L29Q probably damaging Het
Wtap G A 17: 13,188,336 (GRCm39) A188V probably benign Het
Zc3hc1 A G 6: 30,390,974 (GRCm39) F5L probably benign Het
Zfp655 C T 5: 145,180,765 (GRCm39) P208S probably benign Het
Zswim3 A T 2: 164,662,602 (GRCm39) probably null Het
Other mutations in Smg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Smg6 APN 11 74,819,974 (GRCm39) missense probably benign
IGL01146:Smg6 APN 11 74,821,254 (GRCm39) nonsense probably null
IGL01505:Smg6 APN 11 75,047,117 (GRCm39) missense probably damaging 1.00
IGL01541:Smg6 APN 11 74,816,770 (GRCm39) missense probably benign 0.43
IGL01636:Smg6 APN 11 74,825,929 (GRCm39) critical splice donor site probably null
IGL02794:Smg6 APN 11 74,944,760 (GRCm39) missense probably damaging 0.99
IGL02964:Smg6 APN 11 74,821,576 (GRCm39) critical splice donor site probably null
IGL03057:Smg6 APN 11 74,826,260 (GRCm39) nonsense probably null
1mM(1):Smg6 UTSW 11 74,825,815 (GRCm39) splice site probably benign
IGL03097:Smg6 UTSW 11 74,823,252 (GRCm39) missense probably damaging 1.00
PIT4802001:Smg6 UTSW 11 75,046,991 (GRCm39) missense probably damaging 0.96
R0269:Smg6 UTSW 11 75,053,757 (GRCm39) missense probably benign
R0344:Smg6 UTSW 11 74,820,647 (GRCm39) missense probably damaging 1.00
R0437:Smg6 UTSW 11 74,820,527 (GRCm39) missense probably damaging 1.00
R0452:Smg6 UTSW 11 74,821,039 (GRCm39) missense probably benign
R0511:Smg6 UTSW 11 74,819,884 (GRCm39) missense probably damaging 1.00
R0617:Smg6 UTSW 11 75,053,757 (GRCm39) missense probably benign
R0737:Smg6 UTSW 11 75,050,662 (GRCm39) missense probably damaging 1.00
R1715:Smg6 UTSW 11 74,820,256 (GRCm39) missense probably benign
R1780:Smg6 UTSW 11 74,836,942 (GRCm39) missense probably damaging 1.00
R1927:Smg6 UTSW 11 75,033,674 (GRCm39) missense probably damaging 1.00
R2073:Smg6 UTSW 11 74,821,120 (GRCm39) missense probably damaging 1.00
R2171:Smg6 UTSW 11 74,929,472 (GRCm39) missense probably damaging 1.00
R2513:Smg6 UTSW 11 74,820,502 (GRCm39) missense probably damaging 1.00
R3943:Smg6 UTSW 11 74,820,367 (GRCm39) missense probably damaging 1.00
R3944:Smg6 UTSW 11 74,820,367 (GRCm39) missense probably damaging 1.00
R4275:Smg6 UTSW 11 74,884,700 (GRCm39) intron probably benign
R4369:Smg6 UTSW 11 74,823,269 (GRCm39) nonsense probably null
R4452:Smg6 UTSW 11 74,880,967 (GRCm39) missense probably benign 0.14
R4864:Smg6 UTSW 11 74,820,988 (GRCm39) missense possibly damaging 0.89
R4885:Smg6 UTSW 11 74,932,744 (GRCm39) missense probably damaging 1.00
R5043:Smg6 UTSW 11 74,820,721 (GRCm39) missense possibly damaging 0.86
R5189:Smg6 UTSW 11 74,932,822 (GRCm39) missense probably damaging 1.00
R5378:Smg6 UTSW 11 74,932,820 (GRCm39) missense possibly damaging 0.61
R5518:Smg6 UTSW 11 74,944,724 (GRCm39) missense probably damaging 0.99
R5725:Smg6 UTSW 11 74,821,439 (GRCm39) missense probably benign 0.45
R5746:Smg6 UTSW 11 75,030,113 (GRCm39) missense probably damaging 1.00
R6151:Smg6 UTSW 11 75,047,033 (GRCm39) missense probably damaging 0.96
R6319:Smg6 UTSW 11 75,047,048 (GRCm39) missense probably damaging 1.00
R6349:Smg6 UTSW 11 74,944,600 (GRCm39) missense possibly damaging 0.94
R6500:Smg6 UTSW 11 74,821,331 (GRCm39) missense possibly damaging 0.74
R6619:Smg6 UTSW 11 74,823,279 (GRCm39) critical splice donor site probably null
R6820:Smg6 UTSW 11 74,932,790 (GRCm39) missense probably damaging 0.99
R6923:Smg6 UTSW 11 74,820,169 (GRCm39) missense possibly damaging 0.50
R7361:Smg6 UTSW 11 74,820,979 (GRCm39) missense probably benign 0.00
R7494:Smg6 UTSW 11 74,820,449 (GRCm39) missense probably benign
R7498:Smg6 UTSW 11 74,819,932 (GRCm39) missense probably benign 0.01
R7681:Smg6 UTSW 11 74,822,531 (GRCm39) missense probably damaging 1.00
R7710:Smg6 UTSW 11 74,821,445 (GRCm39) missense probably benign 0.26
R7770:Smg6 UTSW 11 74,884,687 (GRCm39) missense unknown
R8159:Smg6 UTSW 11 74,929,465 (GRCm39) missense probably damaging 1.00
R8381:Smg6 UTSW 11 74,822,566 (GRCm39) missense probably damaging 1.00
R8463:Smg6 UTSW 11 74,820,886 (GRCm39) missense probably benign 0.14
R8509:Smg6 UTSW 11 74,932,702 (GRCm39) missense probably benign 0.04
R8557:Smg6 UTSW 11 75,047,064 (GRCm39) missense probably damaging 0.98
R8743:Smg6 UTSW 11 74,820,859 (GRCm39) missense probably benign
R9240:Smg6 UTSW 11 74,825,884 (GRCm39) missense probably damaging 1.00
R9312:Smg6 UTSW 11 74,820,877 (GRCm39) missense probably benign 0.27
X0018:Smg6 UTSW 11 74,820,812 (GRCm39) missense possibly damaging 0.76
Z1186:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1187:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1188:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1189:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1190:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1191:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Z1192:Smg6 UTSW 11 75,047,092 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16