Incidental Mutation 'R9549:Smg1'
ID 720302
Institutional Source Beutler Lab
Gene Symbol Smg1
Ensembl Gene ENSMUSG00000030655
Gene Name SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)
Synonyms 2610207I05Rik, 5430435M13Rik, C130002K18Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9549 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 118131308-118243670 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118196031 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 431 (L431P)
Ref Sequence ENSEMBL: ENSMUSP00000032891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032891] [ENSMUST00000179047]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000032891
AA Change: L431P
SMART Domains Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655
AA Change: L431P

DomainStartEndE-ValueType
low complexity region 42 55 N/A INTRINSIC
SCOP:d1gw5a_ 147 621 7e-7 SMART
Pfam:SMG1 629 1240 9.8e-249 PFAM
low complexity region 1540 1551 N/A INTRINSIC
SCOP:d1gw5a_ 1680 1942 8e-3 SMART
low complexity region 2125 2141 N/A INTRINSIC
PI3Kc 2149 2493 7.93e-50 SMART
low complexity region 2759 2770 N/A INTRINSIC
low complexity region 3425 3442 N/A INTRINSIC
FATC 3626 3658 8.66e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179047
SMART Domains Protein: ENSMUSP00000137172
Gene: ENSMUSG00000030655

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
SCOP:d1gw5a_ 123 282 7e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179331
SMART Domains Protein: ENSMUSP00000137592
Gene: ENSMUSG00000030655

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
SCOP:d1gw5a_ 71 545 1e-6 SMART
low complexity region 602 612 N/A INTRINSIC
low complexity region 631 646 N/A INTRINSIC
low complexity region 698 718 N/A INTRINSIC
low complexity region 898 915 N/A INTRINSIC
low complexity region 1135 1147 N/A INTRINSIC
low complexity region 1464 1475 N/A INTRINSIC
low complexity region 2049 2065 N/A INTRINSIC
PI3Kc 2073 2417 7.93e-50 SMART
low complexity region 2683 2694 N/A INTRINSIC
low complexity region 3349 3366 N/A INTRINSIC
FATC 3550 3582 8.66e-12 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit early embryonic lethality. Mice heteroygous for a gene trap allele exhibit abnormal tooth development, chronic inflammation, increased body weight, increased incidence of tumor formation and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930539E08Rik A T 17: 28,905,673 (GRCm38) H9Q Het
Acan A G 7: 79,092,328 (GRCm38) Y491C probably damaging Het
B3gnt6 G T 7: 98,194,449 (GRCm38) D101E possibly damaging Het
Ccnt1 A G 15: 98,543,693 (GRCm38) S565P probably damaging Het
Crebbp T C 16: 4,085,247 (GRCm38) M2043V probably benign Het
Ehbp1 T G 11: 22,062,788 (GRCm38) D941A probably benign Het
Fam171b G T 2: 83,812,855 (GRCm38) R36L probably damaging Het
Fam83c T A 2: 155,834,752 (GRCm38) I33L Het
Fbxo15 T C 18: 84,962,680 (GRCm38) V260A possibly damaging Het
Fez1 G A 9: 36,868,915 (GRCm38) G336E possibly damaging Het
Gm7579 CTGTGTG CTGTG 7: 142,211,999 (GRCm38) probably null Het
Grip1 G A 10: 120,038,664 (GRCm38) E778K possibly damaging Het
Isoc2a A G 7: 4,892,059 (GRCm38) E162G probably damaging Het
Lrig2 A G 3: 104,490,875 (GRCm38) S313P probably damaging Het
Lrrd1 T A 5: 3,851,473 (GRCm38) S593T probably benign Het
Lrrn1 A G 6: 107,569,017 (GRCm38) Y592C probably damaging Het
Map3k9 T C 12: 81,724,481 (GRCm38) T778A probably benign Het
Mapk14 T A 17: 28,715,441 (GRCm38) V102E probably damaging Het
Maz A G 7: 127,026,406 (GRCm38) F5S unknown Het
Meioc C T 11: 102,665,724 (GRCm38) probably benign Het
Mlec A G 5: 115,150,212 (GRCm38) V195A probably benign Het
Mlh3 T C 12: 85,266,475 (GRCm38) D979G probably benign Het
Mto1 G A 9: 78,461,679 (GRCm38) S541N probably benign Het
Mug1 G A 6: 121,881,803 (GRCm38) G1160E probably damaging Het
Nfkb2 T A 19: 46,309,672 (GRCm38) I496N probably damaging Het
Nr1h5 T C 3: 102,941,021 (GRCm38) D456G probably benign Het
Olfr235 T A 19: 12,269,044 (GRCm38) F271L probably benign Het
Paqr5 A T 9: 61,956,261 (GRCm38) C260S possibly damaging Het
Pip5k1b C A 19: 24,379,049 (GRCm38) C175F probably damaging Het
Pkn1 T C 8: 83,692,845 (GRCm38) E43G probably damaging Het
Pld1 G A 3: 28,071,232 (GRCm38) E432K possibly damaging Het
Plekhb2 A G 1: 34,863,471 (GRCm38) D64G probably benign Het
Plekhh3 T A 11: 101,165,189 (GRCm38) probably null Het
Prex2 A T 1: 11,186,691 (GRCm38) H1209L probably damaging Het
Rlf T C 4: 121,148,123 (GRCm38) Y1330C probably damaging Het
Rmdn2 T G 17: 79,627,910 (GRCm38) S151A Het
Sdk1 A C 5: 141,954,902 (GRCm38) D475A possibly damaging Het
Serpina1e A T 12: 103,950,984 (GRCm38) L142Q possibly damaging Het
Setbp1 T A 18: 78,859,414 (GRCm38) D346V probably benign Het
St13 G A 15: 81,374,862 (GRCm38) A207V possibly damaging Het
Thra T C 11: 98,762,946 (GRCm38) I201T probably benign Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,816,257 (GRCm38) probably benign Het
Trpm6 C T 19: 18,876,030 (GRCm38) Q1805* probably null Het
Uxs1 A T 1: 43,771,732 (GRCm38) Y231* probably null Het
Vash1 A T 12: 86,689,096 (GRCm38) D252V probably damaging Het
Vmn1r61 A C 7: 5,611,186 (GRCm38) V43G probably damaging Het
Vmn2r1 A G 3: 64,090,072 (GRCm38) H383R probably benign Het
Vmn2r105 T C 17: 20,227,761 (GRCm38) N267S probably benign Het
Zfp445 T C 9: 122,856,779 (GRCm38) E232G probably damaging Het
Other mutations in Smg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Smg1 APN 7 118,198,271 (GRCm38) utr 3 prime probably benign
IGL00481:Smg1 APN 7 118,210,794 (GRCm38) missense possibly damaging 0.67
IGL00503:Smg1 APN 7 118,185,483 (GRCm38) utr 3 prime probably benign
IGL00927:Smg1 APN 7 118,140,632 (GRCm38) missense probably damaging 1.00
IGL01333:Smg1 APN 7 118,163,378 (GRCm38) splice site probably benign
IGL01344:Smg1 APN 7 118,190,836 (GRCm38) utr 3 prime probably benign
IGL01397:Smg1 APN 7 118,163,221 (GRCm38) utr 3 prime probably benign
IGL01403:Smg1 APN 7 118,158,132 (GRCm38) utr 3 prime probably benign
IGL01573:Smg1 APN 7 118,167,962 (GRCm38) utr 3 prime probably benign
IGL01872:Smg1 APN 7 118,148,944 (GRCm38) utr 3 prime probably benign
IGL02010:Smg1 APN 7 118,186,146 (GRCm38) utr 3 prime probably benign
IGL02158:Smg1 APN 7 118,212,946 (GRCm38) missense possibly damaging 0.77
IGL02268:Smg1 APN 7 118,182,541 (GRCm38) missense probably benign 0.19
IGL02314:Smg1 APN 7 118,154,709 (GRCm38) utr 3 prime probably benign
IGL02552:Smg1 APN 7 118,195,894 (GRCm38) utr 3 prime probably benign
IGL02577:Smg1 APN 7 118,203,122 (GRCm38) missense probably damaging 0.99
IGL02859:Smg1 APN 7 118,148,933 (GRCm38) utr 3 prime probably benign
IGL02890:Smg1 APN 7 118,185,501 (GRCm38) utr 3 prime probably benign
IGL02892:Smg1 APN 7 118,167,955 (GRCm38) utr 3 prime probably benign
IGL03119:Smg1 APN 7 118,195,113 (GRCm38) utr 3 prime probably benign
IGL03123:Smg1 APN 7 118,157,181 (GRCm38) utr 3 prime probably benign
IGL03128:Smg1 APN 7 118,203,059 (GRCm38) missense probably benign 0.03
IGL03184:Smg1 APN 7 118,180,380 (GRCm38) missense possibly damaging 0.86
PIT4508001:Smg1 UTSW 7 118,185,541 (GRCm38) missense unknown
R0010:Smg1 UTSW 7 118,171,859 (GRCm38) utr 3 prime probably benign
R0010:Smg1 UTSW 7 118,171,859 (GRCm38) utr 3 prime probably benign
R0025:Smg1 UTSW 7 118,212,443 (GRCm38) missense possibly damaging 0.92
R0025:Smg1 UTSW 7 118,212,443 (GRCm38) missense possibly damaging 0.92
R0098:Smg1 UTSW 7 118,145,467 (GRCm38) missense probably benign 0.02
R0139:Smg1 UTSW 7 118,152,675 (GRCm38) critical splice donor site probably null
R0371:Smg1 UTSW 7 118,168,300 (GRCm38) utr 3 prime probably benign
R0415:Smg1 UTSW 7 118,182,468 (GRCm38) missense probably benign 0.34
R0416:Smg1 UTSW 7 118,184,461 (GRCm38) splice site probably benign
R0423:Smg1 UTSW 7 118,176,880 (GRCm38) missense possibly damaging 0.53
R0600:Smg1 UTSW 7 118,160,383 (GRCm38) utr 3 prime probably benign
R0626:Smg1 UTSW 7 118,182,383 (GRCm38) missense possibly damaging 0.82
R0627:Smg1 UTSW 7 118,167,861 (GRCm38) utr 3 prime probably benign
R0727:Smg1 UTSW 7 118,166,422 (GRCm38) utr 3 prime probably benign
R0729:Smg1 UTSW 7 118,146,289 (GRCm38) utr 3 prime probably benign
R0841:Smg1 UTSW 7 118,143,301 (GRCm38) missense possibly damaging 0.96
R1114:Smg1 UTSW 7 118,159,790 (GRCm38) utr 3 prime probably benign
R1256:Smg1 UTSW 7 118,203,087 (GRCm38) missense probably damaging 1.00
R1298:Smg1 UTSW 7 118,168,211 (GRCm38) utr 3 prime probably benign
R1370:Smg1 UTSW 7 118,159,752 (GRCm38) utr 3 prime probably benign
R1591:Smg1 UTSW 7 118,156,919 (GRCm38) utr 3 prime probably benign
R1736:Smg1 UTSW 7 118,165,967 (GRCm38) splice site probably null
R1755:Smg1 UTSW 7 118,203,064 (GRCm38) nonsense probably null
R1765:Smg1 UTSW 7 118,139,715 (GRCm38) missense probably benign 0.03
R1789:Smg1 UTSW 7 118,145,798 (GRCm38) missense possibly damaging 0.73
R1845:Smg1 UTSW 7 118,154,622 (GRCm38) utr 3 prime probably benign
R1908:Smg1 UTSW 7 118,154,199 (GRCm38) utr 3 prime probably benign
R1909:Smg1 UTSW 7 118,154,199 (GRCm38) utr 3 prime probably benign
R1942:Smg1 UTSW 7 118,158,103 (GRCm38) utr 3 prime probably benign
R2064:Smg1 UTSW 7 118,156,867 (GRCm38) utr 3 prime probably benign
R2072:Smg1 UTSW 7 118,163,166 (GRCm38) utr 3 prime probably benign
R2154:Smg1 UTSW 7 118,158,076 (GRCm38) utr 3 prime probably benign
R2895:Smg1 UTSW 7 118,189,143 (GRCm38) utr 3 prime probably benign
R2915:Smg1 UTSW 7 118,210,879 (GRCm38) splice site probably benign
R3416:Smg1 UTSW 7 118,148,853 (GRCm38) utr 3 prime probably benign
R3417:Smg1 UTSW 7 118,148,853 (GRCm38) utr 3 prime probably benign
R3873:Smg1 UTSW 7 118,154,662 (GRCm38) utr 3 prime probably benign
R4082:Smg1 UTSW 7 118,160,246 (GRCm38) utr 3 prime probably benign
R4230:Smg1 UTSW 7 118,148,733 (GRCm38) critical splice donor site probably null
R4304:Smg1 UTSW 7 118,139,518 (GRCm38) missense probably benign 0.03
R4549:Smg1 UTSW 7 118,159,683 (GRCm38) utr 3 prime probably benign
R4571:Smg1 UTSW 7 118,139,465 (GRCm38) missense possibly damaging 0.72
R4638:Smg1 UTSW 7 118,195,926 (GRCm38) utr 3 prime probably benign
R4642:Smg1 UTSW 7 118,154,264 (GRCm38) utr 3 prime probably benign
R4656:Smg1 UTSW 7 118,212,951 (GRCm38) missense probably benign 0.00
R4754:Smg1 UTSW 7 118,156,731 (GRCm38) utr 3 prime probably benign
R4798:Smg1 UTSW 7 118,180,474 (GRCm38) missense probably benign 0.32
R4906:Smg1 UTSW 7 118,152,408 (GRCm38) utr 3 prime probably benign
R4978:Smg1 UTSW 7 118,154,247 (GRCm38) utr 3 prime probably benign
R4989:Smg1 UTSW 7 118,208,051 (GRCm38) missense probably benign
R4989:Smg1 UTSW 7 118,158,100 (GRCm38) utr 3 prime probably benign
R5026:Smg1 UTSW 7 118,193,545 (GRCm38) utr 3 prime probably benign
R5124:Smg1 UTSW 7 118,213,012 (GRCm38) missense probably benign 0.00
R5318:Smg1 UTSW 7 118,160,204 (GRCm38) utr 3 prime probably benign
R5356:Smg1 UTSW 7 118,195,133 (GRCm38) utr 3 prime probably benign
R5404:Smg1 UTSW 7 118,206,908 (GRCm38) missense probably damaging 1.00
R5423:Smg1 UTSW 7 118,146,071 (GRCm38) missense possibly damaging 0.70
R5441:Smg1 UTSW 7 118,195,081 (GRCm38) utr 3 prime probably benign
R5490:Smg1 UTSW 7 118,139,436 (GRCm38) missense possibly damaging 0.86
R5541:Smg1 UTSW 7 118,157,163 (GRCm38) utr 3 prime probably benign
R5564:Smg1 UTSW 7 118,189,819 (GRCm38) utr 3 prime probably benign
R5580:Smg1 UTSW 7 118,148,902 (GRCm38) utr 3 prime probably benign
R5600:Smg1 UTSW 7 118,167,884 (GRCm38) utr 3 prime probably benign
R5628:Smg1 UTSW 7 118,154,701 (GRCm38) utr 3 prime probably benign
R5646:Smg1 UTSW 7 118,212,559 (GRCm38) missense probably benign 0.42
R5656:Smg1 UTSW 7 118,154,664 (GRCm38) utr 3 prime probably benign
R5660:Smg1 UTSW 7 118,143,347 (GRCm38) missense probably benign 0.33
R5706:Smg1 UTSW 7 118,145,590 (GRCm38) missense possibly damaging 0.86
R5786:Smg1 UTSW 7 118,212,897 (GRCm38) missense probably benign 0.12
R5890:Smg1 UTSW 7 118,190,586 (GRCm38) utr 3 prime probably benign
R5912:Smg1 UTSW 7 118,154,586 (GRCm38) utr 3 prime probably benign
R5977:Smg1 UTSW 7 118,141,357 (GRCm38) utr 3 prime probably benign
R5993:Smg1 UTSW 7 118,140,509 (GRCm38) missense probably benign 0.33
R6161:Smg1 UTSW 7 118,163,330 (GRCm38) utr 3 prime probably benign
R6187:Smg1 UTSW 7 118,189,163 (GRCm38) utr 3 prime probably benign
R6264:Smg1 UTSW 7 118,166,087 (GRCm38) utr 3 prime probably benign
R6331:Smg1 UTSW 7 118,154,277 (GRCm38) utr 3 prime probably benign
R6561:Smg1 UTSW 7 118,166,077 (GRCm38) utr 3 prime probably benign
R6571:Smg1 UTSW 7 118,184,514 (GRCm38) utr 3 prime probably benign
R6736:Smg1 UTSW 7 118,157,166 (GRCm38) utr 3 prime probably benign
R6752:Smg1 UTSW 7 118,163,316 (GRCm38) utr 3 prime probably benign
R6777:Smg1 UTSW 7 118,189,117 (GRCm38) utr 3 prime probably benign
R6788:Smg1 UTSW 7 118,184,571 (GRCm38) utr 3 prime probably benign
R6883:Smg1 UTSW 7 118,168,180 (GRCm38) utr 3 prime probably benign
R6991:Smg1 UTSW 7 118,167,868 (GRCm38) utr 3 prime probably benign
R7056:Smg1 UTSW 7 118,146,400 (GRCm38) splice site probably benign
R7058:Smg1 UTSW 7 118,198,279 (GRCm38) utr 3 prime probably benign
R7100:Smg1 UTSW 7 118,184,520 (GRCm38) missense unknown
R7133:Smg1 UTSW 7 118,152,908 (GRCm38) missense unknown
R7221:Smg1 UTSW 7 118,182,797 (GRCm38) missense possibly damaging 0.86
R7229:Smg1 UTSW 7 118,176,955 (GRCm38) missense probably benign 0.03
R7293:Smg1 UTSW 7 118,166,099 (GRCm38) missense unknown
R7361:Smg1 UTSW 7 118,184,977 (GRCm38) missense unknown
R7438:Smg1 UTSW 7 118,195,893 (GRCm38) missense unknown
R7686:Smg1 UTSW 7 118,167,858 (GRCm38) missense unknown
R7798:Smg1 UTSW 7 118,171,939 (GRCm38) missense possibly damaging 0.73
R7908:Smg1 UTSW 7 118,186,134 (GRCm38) missense unknown
R7923:Smg1 UTSW 7 118,143,322 (GRCm38) missense possibly damaging 0.96
R7978:Smg1 UTSW 7 118,193,655 (GRCm38) missense unknown
R7997:Smg1 UTSW 7 118,173,142 (GRCm38) missense unknown
R7997:Smg1 UTSW 7 118,173,141 (GRCm38) missense unknown
R8025:Smg1 UTSW 7 118,206,989 (GRCm38) nonsense probably null
R8056:Smg1 UTSW 7 118,160,366 (GRCm38) missense unknown
R8061:Smg1 UTSW 7 118,152,387 (GRCm38) missense unknown
R8095:Smg1 UTSW 7 118,173,062 (GRCm38) missense unknown
R8198:Smg1 UTSW 7 118,145,606 (GRCm38) missense probably benign 0.03
R8399:Smg1 UTSW 7 118,190,571 (GRCm38) missense unknown
R8445:Smg1 UTSW 7 118,136,977 (GRCm38) missense possibly damaging 0.72
R8519:Smg1 UTSW 7 118,171,759 (GRCm38) utr 3 prime probably benign
R8817:Smg1 UTSW 7 118,159,664 (GRCm38) missense unknown
R8832:Smg1 UTSW 7 118,139,783 (GRCm38) missense probably benign 0.33
R8855:Smg1 UTSW 7 118,206,899 (GRCm38) missense unknown
R8866:Smg1 UTSW 7 118,206,899 (GRCm38) missense unknown
R8946:Smg1 UTSW 7 118,152,677 (GRCm38) missense probably null
R8954:Smg1 UTSW 7 118,206,992 (GRCm38) missense probably damaging 1.00
R8967:Smg1 UTSW 7 118,166,516 (GRCm38) missense unknown
R9072:Smg1 UTSW 7 118,183,809 (GRCm38) missense unknown
R9090:Smg1 UTSW 7 118,212,563 (GRCm38) missense unknown
R9156:Smg1 UTSW 7 118,154,661 (GRCm38) missense unknown
R9198:Smg1 UTSW 7 118,195,956 (GRCm38) missense unknown
R9240:Smg1 UTSW 7 118,139,808 (GRCm38) missense probably benign 0.18
R9271:Smg1 UTSW 7 118,212,563 (GRCm38) missense unknown
R9289:Smg1 UTSW 7 118,145,416 (GRCm38) missense possibly damaging 0.53
R9378:Smg1 UTSW 7 118,178,775 (GRCm38) nonsense probably null
R9396:Smg1 UTSW 7 118,208,080 (GRCm38) missense unknown
R9469:Smg1 UTSW 7 118,140,551 (GRCm38) missense possibly damaging 0.72
R9539:Smg1 UTSW 7 118,145,753 (GRCm38) missense probably benign 0.03
R9563:Smg1 UTSW 7 118,212,985 (GRCm38) missense unknown
R9564:Smg1 UTSW 7 118,212,985 (GRCm38) missense unknown
R9597:Smg1 UTSW 7 118,213,047 (GRCm38) missense unknown
R9643:Smg1 UTSW 7 118,156,710 (GRCm38) missense unknown
R9703:Smg1 UTSW 7 118,140,521 (GRCm38) missense possibly damaging 0.73
R9730:Smg1 UTSW 7 118,183,781 (GRCm38) missense unknown
Z1088:Smg1 UTSW 7 118,178,399 (GRCm38) missense possibly damaging 0.96
Z1088:Smg1 UTSW 7 118,168,661 (GRCm38) nonsense probably null
Z1088:Smg1 UTSW 7 118,154,635 (GRCm38) utr 3 prime probably benign
Z1176:Smg1 UTSW 7 118,206,907 (GRCm38) missense unknown
Z1176:Smg1 UTSW 7 118,206,887 (GRCm38) missense unknown
Z1177:Smg1 UTSW 7 118,213,033 (GRCm38) missense unknown
Z1177:Smg1 UTSW 7 118,168,608 (GRCm38) missense probably null
Predicted Primers PCR Primer
(F):5'- GTCTGGCAATTCTCCAGTTGG -3'
(R):5'- GGTGGTGCACATCTGTAAAGAC -3'

Sequencing Primer
(F):5'- GGCAATTCTCCAGTTGGTCTAATC -3'
(R):5'- CTGTAAAGACAGCCTGGATTATG -3'
Posted On 2022-07-18