Incidental Mutation 'IGL02379:Smg6'
ID291277
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smg6
Ensembl Gene ENSMUSG00000038290
Gene NameSmg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
Synonyms
Accession Numbers

Genbank: NM_001002764.1; Ensembl: ENSMUST00000045281

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02379
Quality Score
Status
Chromosome11
Chromosomal Location74925823-75164448 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 75053925 bp
ZygosityHeterozygous
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]
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: 121,622,043 I996F probably damaging Het
Adamts9 T A 6: 92,797,033 D1133V probably damaging Het
Adi1 T A 12: 28,679,467 D106E probably damaging Het
Agl A G 3: 116,779,091 F837S probably damaging Het
Alb T A 5: 90,465,879 D207E probably benign Het
Alms1 T G 6: 85,629,633 V2286G probably damaging Het
Alpl G A 4: 137,742,558 A485V probably damaging Het
Antxrl C A 14: 34,056,535 probably null Het
Apc C T 18: 34,298,745 T417I probably benign Het
Ash2l T C 8: 25,822,771 D390G probably damaging Het
Asph G A 4: 9,474,980 P582S probably damaging Het
Bcr T A 10: 75,157,148 L825Q probably benign Het
Bhlha15 T A 5: 144,191,341 N90K probably damaging Het
Cgnl1 T A 9: 71,645,553 Y1043F possibly damaging Het
Chek1 T C 9: 36,723,946 D47G probably benign Het
Clca4b T A 3: 144,921,858 M451L probably benign Het
Csnk1g3 T C 18: 53,933,492 S346P probably benign Het
Cspg4 G T 9: 56,892,609 probably benign Het
Ctr9 A G 7: 111,051,519 K884E probably damaging Het
Cyld T A 8: 88,744,928 C813* probably null Het
Fn3k A T 11: 121,435,124 T46S probably benign Het
Foxred1 T C 9: 35,209,986 R89G probably benign Het
Gpr174 T C X: 107,293,478 F299L probably damaging Het
Hdac7 T C 15: 97,808,385 D312G probably damaging Het
Il1f8 A G 2: 24,154,638 S17G probably benign Het
Kcna5 G T 6: 126,534,509 P219T probably damaging Het
Kcnh2 A C 5: 24,326,638 V425G probably damaging Het
Klk5 A G 7: 43,850,822 N278S probably damaging Het
Mars2 T A 1: 55,238,053 W272R probably damaging Het
Msl3l2 C A 10: 56,115,921 S247R possibly damaging Het
Myh7 T C 14: 54,979,468 E1144G probably damaging Het
Nefm T C 14: 68,120,239 probably benign Het
Nwd2 A G 5: 63,805,301 K743E probably damaging Het
Nyap2 C T 1: 81,087,430 T53I probably damaging Het
Olfr1124 T C 2: 87,435,324 V279A probably benign Het
Olfr617 T C 7: 103,584,892 V290A possibly damaging Het
Peli2 A G 14: 48,168,298 H60R probably damaging Het
Pias2 T A 18: 77,145,148 probably benign Het
Pik3c2b A G 1: 133,094,791 D1157G probably damaging Het
Pip4k2a C T 2: 18,866,111 probably null Het
Raf1 A T 6: 115,644,548 D23E probably benign Het
Rhox10 G A X: 38,066,856 R87H probably benign Het
Rpgrip1 A G 14: 52,138,888 T449A possibly damaging Het
Serpina3a T A 12: 104,118,660 S105T probably benign Het
Slc12a9 T G 5: 137,321,429 Q608P probably damaging Het
Spata7 C T 12: 98,634,260 T44I probably damaging Het
Spink12 C T 18: 44,106,508 probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stag2 C T X: 42,250,597 T754I probably benign Het
Supt6 C T 11: 78,225,369 V723M possibly damaging Het
Ttc25 A T 11: 100,566,983 N471Y possibly damaging Het
Ubr3 A G 2: 69,948,488 D614G possibly damaging Het
Vps39 T A 2: 120,323,608 K624N probably benign Het
Vwa5b1 A T 4: 138,612,859 L29Q probably damaging Het
Wtap G A 17: 12,969,449 A188V probably benign Het
Zc3hc1 A G 6: 30,390,975 F5L probably benign Het
Zfp655 C T 5: 145,243,955 P208S probably benign Het
Zswim3 A T 2: 164,820,682 probably null Het
Other mutations in Smg6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Smg6 APN 11 74929148 missense probably benign
IGL01146:Smg6 APN 11 74930428 nonsense probably null
IGL01505:Smg6 APN 11 75156291 missense probably damaging 1.00
IGL01541:Smg6 APN 11 74925944 missense probably benign 0.43
IGL01636:Smg6 APN 11 74935103 critical splice donor site probably null
IGL02794:Smg6 APN 11 75053934 missense probably damaging 0.99
IGL02964:Smg6 APN 11 74930750 critical splice donor site probably null
IGL03057:Smg6 APN 11 74935434 nonsense probably null
1mM(1):Smg6 UTSW 11 74934989 splice site probably benign
IGL03097:Smg6 UTSW 11 74932426 missense probably damaging 1.00
PIT4802001:Smg6 UTSW 11 75156165 missense probably damaging 0.96
R0269:Smg6 UTSW 11 75162931 missense probably benign
R0344:Smg6 UTSW 11 74929821 missense probably damaging 1.00
R0437:Smg6 UTSW 11 74929701 missense probably damaging 1.00
R0452:Smg6 UTSW 11 74930213 missense probably benign
R0511:Smg6 UTSW 11 74929058 missense probably damaging 1.00
R0617:Smg6 UTSW 11 75162931 missense probably benign
R0737:Smg6 UTSW 11 75159836 missense probably damaging 1.00
R1715:Smg6 UTSW 11 74929430 missense probably benign
R1780:Smg6 UTSW 11 74946116 missense probably damaging 1.00
R1927:Smg6 UTSW 11 75142848 missense probably damaging 1.00
R2073:Smg6 UTSW 11 74930294 missense probably damaging 1.00
R2171:Smg6 UTSW 11 75038646 missense probably damaging 1.00
R2513:Smg6 UTSW 11 74929676 missense probably damaging 1.00
R3943:Smg6 UTSW 11 74929541 missense probably damaging 1.00
R3944:Smg6 UTSW 11 74929541 missense probably damaging 1.00
R4275:Smg6 UTSW 11 74993874 intron probably benign
R4369:Smg6 UTSW 11 74932443 nonsense probably null
R4452:Smg6 UTSW 11 74990141 missense probably benign 0.14
R4864:Smg6 UTSW 11 74930162 missense possibly damaging 0.89
R4885:Smg6 UTSW 11 75041918 missense probably damaging 1.00
R5043:Smg6 UTSW 11 74929895 missense possibly damaging 0.86
R5189:Smg6 UTSW 11 75041996 missense probably damaging 1.00
R5378:Smg6 UTSW 11 75041994 missense possibly damaging 0.61
R5518:Smg6 UTSW 11 75053898 missense probably damaging 0.99
R5725:Smg6 UTSW 11 74930613 missense probably benign 0.45
R5746:Smg6 UTSW 11 75139287 missense probably damaging 1.00
R6151:Smg6 UTSW 11 75156207 missense probably damaging 0.96
R6319:Smg6 UTSW 11 75156222 missense probably damaging 1.00
R6349:Smg6 UTSW 11 75053774 missense possibly damaging 0.94
R6500:Smg6 UTSW 11 74930505 missense possibly damaging 0.74
R6619:Smg6 UTSW 11 74932453 critical splice donor site probably null
R6820:Smg6 UTSW 11 75041964 missense probably damaging 0.99
R6923:Smg6 UTSW 11 74929343 missense possibly damaging 0.50
R7361:Smg6 UTSW 11 74930153 missense probably benign 0.00
R7494:Smg6 UTSW 11 74929623 missense probably benign
R7498:Smg6 UTSW 11 74929106 missense probably benign 0.01
R7681:Smg6 UTSW 11 74931705 missense probably damaging 1.00
R7710:Smg6 UTSW 11 74930619 missense probably benign 0.26
R7770:Smg6 UTSW 11 74993861 missense unknown
R8159:Smg6 UTSW 11 75038639 missense probably damaging 1.00
R8381:Smg6 UTSW 11 74931740 missense probably damaging 1.00
R8509:Smg6 UTSW 11 75041876 missense probably benign 0.04
X0018:Smg6 UTSW 11 74929986 missense possibly damaging 0.76
Posted On2015-04-16