Incidental Mutation 'R6080:Smg5'
ID 482878
Institutional Source Beutler Lab
Gene Symbol Smg5
Ensembl Gene ENSMUSG00000001415
Gene Name SMG5 nonsense mediated mRNA decay factor
Synonyms Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)
MMRRC Submission 044239-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6080 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 88243567-88269645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88258816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 596 (T596A)
Ref Sequence ENSEMBL: ENSMUSP00000001451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001451]
AlphaFold Q6ZPY2
Predicted Effect probably benign
Transcript: ENSMUST00000001451
AA Change: T596A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: T596A

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
Pfam:EST1 77 189 1.1e-26 PFAM
Pfam:EST1_DNA_bind 197 427 4.6e-53 PFAM
low complexity region 447 468 N/A INTRINSIC
low complexity region 481 501 N/A INTRINSIC
Pfam:EST1_DNA_bind 611 745 3.7e-9 PFAM
coiled coil region 801 842 N/A INTRINSIC
PINc 856 979 3.23e-15 SMART
low complexity region 990 999 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193097
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C T 14: 118,906,462 (GRCm39) M44I possibly damaging Het
Anks1b C A 10: 90,802,211 (GRCm39) S1209* probably null Het
Atp9b A G 18: 80,782,023 (GRCm39) V1039A probably benign Het
Bltp3a T C 17: 28,099,271 (GRCm39) S278P probably benign Het
Cep44 T C 8: 56,992,876 (GRCm39) K246R possibly damaging Het
Cfap54 A T 10: 92,881,197 (GRCm39) D330E possibly damaging Het
Dnah10 A T 5: 124,882,961 (GRCm39) M2940L possibly damaging Het
Gm14326 T A 2: 177,578,339 (GRCm39) T68S probably benign Het
Gm4922 A C 10: 18,660,500 (GRCm39) I74S probably damaging Het
Ints14 G A 9: 64,874,044 (GRCm39) V99I probably benign Het
Lrp4 T C 2: 91,332,345 (GRCm39) S1681P probably benign Het
Lrp5 T C 19: 3,678,316 (GRCm39) E513G probably benign Het
Myh14 T A 7: 44,305,035 (GRCm39) N252I probably damaging Het
Naga A G 15: 82,219,048 (GRCm39) V233A probably benign Het
Npc1 C T 18: 12,352,408 (GRCm39) C97Y probably damaging Het
Or4f15 T G 2: 111,814,050 (GRCm39) Y123S probably damaging Het
Or52n4 T C 7: 104,294,517 (GRCm39) I19V probably benign Het
Or56a3b T C 7: 104,771,116 (GRCm39) F151L probably benign Het
Or9i2 C A 19: 13,816,464 (GRCm39) L24F possibly damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Plag1 T C 4: 3,903,815 (GRCm39) T459A probably benign Het
Rnase9 T C 14: 51,276,727 (GRCm39) T84A probably benign Het
Rps6kb2 T A 19: 4,208,671 (GRCm39) I282F probably benign Het
Ugcg T C 4: 59,218,524 (GRCm39) V256A possibly damaging Het
Vgll4 T C 6: 114,898,299 (GRCm39) I21V probably benign Het
Vipas39 T A 12: 87,288,727 (GRCm39) H426L probably damaging Het
Vmn1r224 A G 17: 20,639,818 (GRCm39) T132A possibly damaging Het
Zc3h18 A G 8: 123,143,283 (GRCm39) probably benign Het
Zfp606 T A 7: 12,228,043 (GRCm39) N663K probably damaging Het
Zfp819 A G 7: 43,266,120 (GRCm39) H201R probably benign Het
Zfp946 T A 17: 22,674,090 (GRCm39) H281Q probably benign Het
Other mutations in Smg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Smg5 APN 3 88,258,735 (GRCm39) nonsense probably null
IGL00902:Smg5 APN 3 88,260,392 (GRCm39) missense probably benign 0.00
IGL00990:Smg5 APN 3 88,250,345 (GRCm39) critical splice donor site probably null
IGL01371:Smg5 APN 3 88,266,951 (GRCm39) unclassified probably benign
IGL01536:Smg5 APN 3 88,256,552 (GRCm39) missense possibly damaging 0.58
IGL02215:Smg5 APN 3 88,260,305 (GRCm39) missense possibly damaging 0.47
IGL03366:Smg5 APN 3 88,253,759 (GRCm39) nonsense probably null
R0013:Smg5 UTSW 3 88,256,540 (GRCm39) missense probably benign 0.00
R0017:Smg5 UTSW 3 88,258,412 (GRCm39) missense probably damaging 1.00
R0017:Smg5 UTSW 3 88,258,412 (GRCm39) missense probably damaging 1.00
R0129:Smg5 UTSW 3 88,256,540 (GRCm39) missense probably benign 0.00
R0153:Smg5 UTSW 3 88,261,179 (GRCm39) unclassified probably benign
R1386:Smg5 UTSW 3 88,262,978 (GRCm39) missense probably damaging 1.00
R1941:Smg5 UTSW 3 88,252,687 (GRCm39) missense possibly damaging 0.71
R2185:Smg5 UTSW 3 88,258,868 (GRCm39) missense probably benign
R2282:Smg5 UTSW 3 88,252,705 (GRCm39) missense probably benign 0.02
R3615:Smg5 UTSW 3 88,243,758 (GRCm39) missense possibly damaging 0.94
R3616:Smg5 UTSW 3 88,243,758 (GRCm39) missense possibly damaging 0.94
R4008:Smg5 UTSW 3 88,256,465 (GRCm39) missense probably benign 0.01
R4687:Smg5 UTSW 3 88,249,776 (GRCm39) missense possibly damaging 0.83
R4726:Smg5 UTSW 3 88,243,758 (GRCm39) missense possibly damaging 0.94
R4801:Smg5 UTSW 3 88,262,999 (GRCm39) nonsense probably null
R4802:Smg5 UTSW 3 88,262,999 (GRCm39) nonsense probably null
R4977:Smg5 UTSW 3 88,263,032 (GRCm39) nonsense probably null
R5384:Smg5 UTSW 3 88,258,600 (GRCm39) missense probably damaging 1.00
R5443:Smg5 UTSW 3 88,261,896 (GRCm39) missense probably damaging 0.99
R5779:Smg5 UTSW 3 88,258,925 (GRCm39) unclassified probably benign
R5860:Smg5 UTSW 3 88,250,214 (GRCm39) missense probably damaging 0.97
R6263:Smg5 UTSW 3 88,249,208 (GRCm39) missense possibly damaging 0.90
R6431:Smg5 UTSW 3 88,258,527 (GRCm39) missense probably benign 0.00
R6722:Smg5 UTSW 3 88,260,332 (GRCm39) missense probably damaging 0.99
R6847:Smg5 UTSW 3 88,249,859 (GRCm39) missense probably damaging 1.00
R6950:Smg5 UTSW 3 88,256,576 (GRCm39) critical splice donor site probably null
R7091:Smg5 UTSW 3 88,258,654 (GRCm39) missense probably benign 0.00
R7395:Smg5 UTSW 3 88,268,378 (GRCm39) missense probably damaging 0.99
R7678:Smg5 UTSW 3 88,261,202 (GRCm39) missense possibly damaging 0.93
R7796:Smg5 UTSW 3 88,256,739 (GRCm39) missense probably damaging 0.96
R8209:Smg5 UTSW 3 88,258,838 (GRCm39) missense probably benign 0.00
R8327:Smg5 UTSW 3 88,252,714 (GRCm39) missense probably damaging 1.00
R8987:Smg5 UTSW 3 88,267,714 (GRCm39) critical splice donor site probably null
R9345:Smg5 UTSW 3 88,261,848 (GRCm39) missense probably damaging 1.00
R9534:Smg5 UTSW 3 88,252,759 (GRCm39) missense probably benign 0.13
R9602:Smg5 UTSW 3 88,250,214 (GRCm39) missense probably damaging 1.00
Z1177:Smg5 UTSW 3 88,260,297 (GRCm39) missense probably benign 0.33
Z1177:Smg5 UTSW 3 88,258,441 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCGGTCAGACCTGGAAGATATG -3'
(R):5'- TCTGGAGGCTGGAAATGAGTAC -3'

Sequencing Primer
(F):5'- GGACAAGATCTCCAGCCCAGG -3'
(R):5'- TACGTGCACAGGACAAGGATTCC -3'
Posted On 2017-07-14