Mutagenetix > Incidental Mutation

Incidental Mutation 'R7229:Smg1'

562355

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

045301-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118131308-118243670 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118176955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1371 (C1371S)

Ref Sequence

ENSEMBL: ENSMUSP00000032891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032891]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032891
AA Change: C1371S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655
AA Change: C1371S

Domain	Start	End	E-Value	Type
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: ENSMUST00000179331

SMART Domains

Protein: ENSMUSP00000137592
Gene: ENSMUSG00000030655

Domain	Start	End	E-Value	Type
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: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,595,352	E122G	probably benign	Het
Adamts2	T	C	11: 50,791,820	Y880H	probably damaging	Het
Atp13a4	A	G	16: 29,420,905	S830P	probably benign	Het
Atp1a3	T	A	7: 24,987,985	Q696L	probably benign	Het
Brox	G	A	1: 183,291,959	R85*	probably null	Het
C130073F10Rik	T	C	4: 101,890,242	I197V	probably benign	Het
Cand2	G	A	6: 115,791,192	V433M	probably damaging	Het
Cep83	A	G	10: 94,719,665	K74E	probably damaging	Het
Chrng	A	T	1: 87,209,444	T275S	probably benign	Het
Clca2	T	C	3: 145,084,108	D489G	probably damaging	Het
Cmtr1	A	G	17: 29,695,424		probably null	Het
Cnga1	T	C	5: 72,618,249	N43S	probably benign	Het
Cog8	A	T	8: 107,056,352	C102S	probably damaging	Het
Cpsf3	G	A	12: 21,296,737		probably null	Het
Cyp26b1	G	A	6: 84,577,150	Q162*	probably null	Het
Elmod3	A	G	6: 72,594,753	F14S	probably benign	Het
Eps8	A	G	6: 137,539,356	S9P	probably benign	Het
Fam105a	G	A	15: 27,658,187	T199M	probably benign	Het
Fam184b	T	C	5: 45,584,175	Q238R	probably damaging	Het
Fbxw7	T	C	3: 84,977,369	L654S	unknown	Het
Foxp1	A	T	6: 98,935,412	L580Q	unknown	Het
Galr1	A	G	18: 82,405,664	S163P	probably damaging	Het
Ganc	T	C	2: 120,427,775	F201L	possibly damaging	Het
Gin1	T	C	1: 97,785,151	F310L	probably benign	Het
Grik2	A	T	10: 49,101,416		probably null	Het
Haus1	A	T	18: 77,764,134	F94I	probably benign	Het
Hcn4	A	G	9: 58,853,399	Y409C	unknown	Het
Hspa1l	A	G	17: 34,977,255	K90R	probably benign	Het
Icam5	T	C	9: 21,037,001	S702P	possibly damaging	Het
Ifnar1	A	G	16: 91,499,556	H315R	probably benign	Het
Klra9	T	C	6: 130,191,261	H14R	probably damaging	Het
Krt78	A	G	15: 101,947,394	Y661H	probably benign	Het
Krtap11-1	T	C	16: 89,570,925	T69A	possibly damaging	Het
L3mbtl3	C	A	10: 26,292,662	S598I	unknown	Het
Lama1	A	T	17: 67,752,446	D608V		Het
Lrrc55	G	A	2: 85,196,440	T80I	probably damaging	Het
Lyst	A	T	13: 13,643,509	T1255S	probably benign	Het
Magi2	T	C	5: 20,465,588	V310A	probably damaging	Het
Med23	C	A	10: 24,902,004	A750D	probably benign	Het
Mmp2	G	A	8: 92,831,786	R161Q	probably damaging	Het
Myo15	A	T	11: 60,496,495	I733F	probably benign	Het
Ncan	A	T	8: 70,100,311	F1090L	possibly damaging	Het
Olfr701	T	G	7: 106,818,995	V304G	probably damaging	Het
Pafah1b1	A	G	11: 74,682,278	I320T	probably damaging	Het
Pcdhb1	T	A	18: 37,266,687	Y564N	probably damaging	Het
Pear1	A	G	3: 87,750,289	S988P	probably benign	Het
Pgam2	A	C	11: 5,803,013	V194G	probably damaging	Het
Plvap	A	T	8: 71,511,577	I47N	probably damaging	Het
Prdx6	A	T	1: 161,247,297	L71H	probably damaging	Het
Psmb11	G	A	14: 54,625,951	V209M	probably damaging	Het
Ptprn2	G	A	12: 117,227,225		probably null	Het
Rcn2	T	A	9: 56,057,479	N240K	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Slc12a4	T	G	8: 105,946,737	Q734P	probably benign	Het
Smarcc2	T	A	10: 128,488,048	M1085K	unknown	Het
Spg11	A	T	2: 122,108,104	F456L	probably damaging	Het
Srsf10	C	T	4: 135,856,217		probably benign	Het
Stxbp5	T	C	10: 9,798,187	Y4C	probably damaging	Het
Tdrd12	T	A	7: 35,480,280	D881V	unknown	Het
Tmem171	T	C	13: 98,692,625	T6A	probably benign	Het
Tmem220	T	C	11: 67,026,163	L55P	unknown	Het
Ttn	G	T	2: 76,846,781	P11037Q	unknown	Het
Tulp4	C	T	17: 6,231,780	H695Y	probably damaging	Het
Usp47	T	C	7: 112,092,877	S849P	probably benign	Het
Vcan	G	A	13: 89,705,270	P524S	possibly damaging	Het
Vmn1r18	A	G	6: 57,390,098	M157T	probably benign	Het
Vmn2r109	A	T	17: 20,540,963	C711S	possibly damaging	Het
Wasf3	C	T	5: 146,455,653	R178C	probably damaging	Het
Wdr76	G	A	2: 121,528,920	V231I	probably damaging	Het
Xirp2	A	T	2: 67,525,551	N3552I	probably damaging	Het
Zfp804a	A	G	2: 82,258,625	T933A	probably benign	Het
Zmynd8	A	G	2: 165,858,053		probably null	Het
Zranb3	A	T	1: 128,040,893	I95K	probably benign	Het

Other mutations in Smg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Smg1	APN	7	118198271	utr 3 prime	probably benign
IGL00481:Smg1	APN	7	118210794	missense	possibly damaging	0.67
IGL00503:Smg1	APN	7	118185483	utr 3 prime	probably benign
IGL00927:Smg1	APN	7	118140632	missense	probably damaging	1.00
IGL01333:Smg1	APN	7	118163378	splice site	probably benign
IGL01344:Smg1	APN	7	118190836	utr 3 prime	probably benign
IGL01397:Smg1	APN	7	118163221	utr 3 prime	probably benign
IGL01403:Smg1	APN	7	118158132	utr 3 prime	probably benign
IGL01573:Smg1	APN	7	118167962	utr 3 prime	probably benign
IGL01872:Smg1	APN	7	118148944	utr 3 prime	probably benign
IGL02010:Smg1	APN	7	118186146	utr 3 prime	probably benign
IGL02158:Smg1	APN	7	118212946	missense	possibly damaging	0.77
IGL02268:Smg1	APN	7	118182541	missense	probably benign	0.19
IGL02314:Smg1	APN	7	118154709	utr 3 prime	probably benign
IGL02552:Smg1	APN	7	118195894	utr 3 prime	probably benign
IGL02577:Smg1	APN	7	118203122	missense	probably damaging	0.99
IGL02859:Smg1	APN	7	118148933	utr 3 prime	probably benign
IGL02890:Smg1	APN	7	118185501	utr 3 prime	probably benign
IGL02892:Smg1	APN	7	118167955	utr 3 prime	probably benign
IGL03119:Smg1	APN	7	118195113	utr 3 prime	probably benign
IGL03123:Smg1	APN	7	118157181	utr 3 prime	probably benign
IGL03128:Smg1	APN	7	118203059	missense	probably benign	0.03
IGL03184:Smg1	APN	7	118180380	missense	possibly damaging	0.86
PIT4508001:Smg1	UTSW	7	118185541	missense	unknown
R0010:Smg1	UTSW	7	118171859	utr 3 prime	probably benign
R0010:Smg1	UTSW	7	118171859	utr 3 prime	probably benign
R0025:Smg1	UTSW	7	118212443	missense	possibly damaging	0.92
R0025:Smg1	UTSW	7	118212443	missense	possibly damaging	0.92
R0098:Smg1	UTSW	7	118145467	missense	probably benign	0.02
R0139:Smg1	UTSW	7	118152675	critical splice donor site	probably null
R0371:Smg1	UTSW	7	118168300	utr 3 prime	probably benign
R0415:Smg1	UTSW	7	118182468	missense	probably benign	0.34
R0416:Smg1	UTSW	7	118184461	splice site	probably benign
R0423:Smg1	UTSW	7	118176880	missense	possibly damaging	0.53
R0600:Smg1	UTSW	7	118160383	utr 3 prime	probably benign
R0626:Smg1	UTSW	7	118182383	missense	possibly damaging	0.82
R0627:Smg1	UTSW	7	118167861	utr 3 prime	probably benign
R0727:Smg1	UTSW	7	118166422	utr 3 prime	probably benign
R0729:Smg1	UTSW	7	118146289	utr 3 prime	probably benign
R0841:Smg1	UTSW	7	118143301	missense	possibly damaging	0.96
R1114:Smg1	UTSW	7	118159790	utr 3 prime	probably benign
R1256:Smg1	UTSW	7	118203087	missense	probably damaging	1.00
R1298:Smg1	UTSW	7	118168211	utr 3 prime	probably benign
R1370:Smg1	UTSW	7	118159752	utr 3 prime	probably benign
R1591:Smg1	UTSW	7	118156919	utr 3 prime	probably benign
R1736:Smg1	UTSW	7	118165967	splice site	probably null
R1755:Smg1	UTSW	7	118203064	nonsense	probably null
R1765:Smg1	UTSW	7	118139715	missense	probably benign	0.03
R1789:Smg1	UTSW	7	118145798	missense	possibly damaging	0.73
R1845:Smg1	UTSW	7	118154622	utr 3 prime	probably benign
R1908:Smg1	UTSW	7	118154199	utr 3 prime	probably benign
R1909:Smg1	UTSW	7	118154199	utr 3 prime	probably benign
R1942:Smg1	UTSW	7	118158103	utr 3 prime	probably benign
R2064:Smg1	UTSW	7	118156867	utr 3 prime	probably benign
R2072:Smg1	UTSW	7	118163166	utr 3 prime	probably benign
R2154:Smg1	UTSW	7	118158076	utr 3 prime	probably benign
R2895:Smg1	UTSW	7	118189143	utr 3 prime	probably benign
R2915:Smg1	UTSW	7	118210879	splice site	probably benign
R3416:Smg1	UTSW	7	118148853	utr 3 prime	probably benign
R3417:Smg1	UTSW	7	118148853	utr 3 prime	probably benign
R3873:Smg1	UTSW	7	118154662	utr 3 prime	probably benign
R4082:Smg1	UTSW	7	118160246	utr 3 prime	probably benign
R4230:Smg1	UTSW	7	118148733	critical splice donor site	probably null
R4304:Smg1	UTSW	7	118139518	missense	probably benign	0.03
R4549:Smg1	UTSW	7	118159683	utr 3 prime	probably benign
R4571:Smg1	UTSW	7	118139465	missense	possibly damaging	0.72
R4638:Smg1	UTSW	7	118195926	utr 3 prime	probably benign
R4642:Smg1	UTSW	7	118154264	utr 3 prime	probably benign
R4656:Smg1	UTSW	7	118212951	missense	probably benign	0.00
R4754:Smg1	UTSW	7	118156731	utr 3 prime	probably benign
R4798:Smg1	UTSW	7	118180474	missense	probably benign	0.32
R4906:Smg1	UTSW	7	118152408	utr 3 prime	probably benign
R4978:Smg1	UTSW	7	118154247	utr 3 prime	probably benign
R4989:Smg1	UTSW	7	118158100	utr 3 prime	probably benign
R4989:Smg1	UTSW	7	118208051	missense	probably benign
R5026:Smg1	UTSW	7	118193545	utr 3 prime	probably benign
R5124:Smg1	UTSW	7	118213012	missense	probably benign	0.00
R5318:Smg1	UTSW	7	118160204	utr 3 prime	probably benign
R5356:Smg1	UTSW	7	118195133	utr 3 prime	probably benign
R5404:Smg1	UTSW	7	118206908	missense	probably damaging	1.00
R5423:Smg1	UTSW	7	118146071	missense	possibly damaging	0.70
R5441:Smg1	UTSW	7	118195081	utr 3 prime	probably benign
R5490:Smg1	UTSW	7	118139436	missense	possibly damaging	0.86
R5541:Smg1	UTSW	7	118157163	utr 3 prime	probably benign
R5564:Smg1	UTSW	7	118189819	utr 3 prime	probably benign
R5580:Smg1	UTSW	7	118148902	utr 3 prime	probably benign
R5600:Smg1	UTSW	7	118167884	utr 3 prime	probably benign
R5628:Smg1	UTSW	7	118154701	utr 3 prime	probably benign
R5646:Smg1	UTSW	7	118212559	missense	probably benign	0.42
R5656:Smg1	UTSW	7	118154664	utr 3 prime	probably benign
R5660:Smg1	UTSW	7	118143347	missense	probably benign	0.33
R5706:Smg1	UTSW	7	118145590	missense	possibly damaging	0.86
R5786:Smg1	UTSW	7	118212897	missense	probably benign	0.12
R5890:Smg1	UTSW	7	118190586	utr 3 prime	probably benign
R5912:Smg1	UTSW	7	118154586	utr 3 prime	probably benign
R5977:Smg1	UTSW	7	118141357	utr 3 prime	probably benign
R5993:Smg1	UTSW	7	118140509	missense	probably benign	0.33
R6161:Smg1	UTSW	7	118163330	utr 3 prime	probably benign
R6187:Smg1	UTSW	7	118189163	utr 3 prime	probably benign
R6264:Smg1	UTSW	7	118166087	utr 3 prime	probably benign
R6331:Smg1	UTSW	7	118154277	utr 3 prime	probably benign
R6561:Smg1	UTSW	7	118166077	utr 3 prime	probably benign
R6571:Smg1	UTSW	7	118184514	utr 3 prime	probably benign
R6736:Smg1	UTSW	7	118157166	utr 3 prime	probably benign
R6752:Smg1	UTSW	7	118163316	utr 3 prime	probably benign
R6777:Smg1	UTSW	7	118189117	utr 3 prime	probably benign
R6788:Smg1	UTSW	7	118184571	utr 3 prime	probably benign
R6883:Smg1	UTSW	7	118168180	utr 3 prime	probably benign
R6991:Smg1	UTSW	7	118167868	utr 3 prime	probably benign
R7056:Smg1	UTSW	7	118146400	splice site	probably benign
R7058:Smg1	UTSW	7	118198279	utr 3 prime	probably benign
R7100:Smg1	UTSW	7	118184520	missense	unknown
R7133:Smg1	UTSW	7	118152908	missense	unknown
R7221:Smg1	UTSW	7	118182797	missense	possibly damaging	0.86
R7293:Smg1	UTSW	7	118166099	missense	unknown
R7361:Smg1	UTSW	7	118184977	missense	unknown
R7438:Smg1	UTSW	7	118195893	missense	unknown
R7686:Smg1	UTSW	7	118167858	missense	unknown
R7798:Smg1	UTSW	7	118171939	missense	possibly damaging	0.73
R7908:Smg1	UTSW	7	118186134	missense	unknown
R7923:Smg1	UTSW	7	118143322	missense	possibly damaging	0.96
R7978:Smg1	UTSW	7	118193655	missense	unknown
R7997:Smg1	UTSW	7	118173141	missense	unknown
R7997:Smg1	UTSW	7	118173142	missense	unknown
R8025:Smg1	UTSW	7	118206989	nonsense	probably null
R8056:Smg1	UTSW	7	118160366	missense	unknown
R8061:Smg1	UTSW	7	118152387	missense	unknown
R8095:Smg1	UTSW	7	118173062	missense	unknown
R8198:Smg1	UTSW	7	118145606	missense	probably benign	0.03
R8399:Smg1	UTSW	7	118190571	missense	unknown
R8445:Smg1	UTSW	7	118136977	missense	possibly damaging	0.72
R8519:Smg1	UTSW	7	118171759	utr 3 prime	probably benign
R8817:Smg1	UTSW	7	118159664	missense	unknown
R8832:Smg1	UTSW	7	118139783	missense	probably benign	0.33
R8855:Smg1	UTSW	7	118206899	missense	unknown
R8866:Smg1	UTSW	7	118206899	missense	unknown
R8946:Smg1	UTSW	7	118152677	missense	probably null
R8954:Smg1	UTSW	7	118206992	missense	probably damaging	1.00
R8967:Smg1	UTSW	7	118166516	missense	unknown
R9072:Smg1	UTSW	7	118183809	missense	unknown
R9090:Smg1	UTSW	7	118212563	missense	unknown
R9156:Smg1	UTSW	7	118154661	missense	unknown
R9198:Smg1	UTSW	7	118195956	missense	unknown
R9240:Smg1	UTSW	7	118139808	missense	probably benign	0.18
R9271:Smg1	UTSW	7	118212563	missense	unknown
R9289:Smg1	UTSW	7	118145416	missense	possibly damaging	0.53
R9378:Smg1	UTSW	7	118178775	nonsense	probably null
R9396:Smg1	UTSW	7	118208080	missense	unknown
R9469:Smg1	UTSW	7	118140551	missense	possibly damaging	0.72
R9539:Smg1	UTSW	7	118145753	missense	probably benign	0.03
R9549:Smg1	UTSW	7	118196031	missense	unknown
R9563:Smg1	UTSW	7	118212985	missense	unknown
R9564:Smg1	UTSW	7	118212985	missense	unknown
R9597:Smg1	UTSW	7	118213047	missense	unknown
R9643:Smg1	UTSW	7	118156710	missense	unknown
R9703:Smg1	UTSW	7	118140521	missense	possibly damaging	0.73
R9730:Smg1	UTSW	7	118183781	missense	unknown
Z1088:Smg1	UTSW	7	118154635	utr 3 prime	probably benign
Z1088:Smg1	UTSW	7	118168661	nonsense	probably null
Z1088:Smg1	UTSW	7	118178399	missense	possibly damaging	0.96
Z1176:Smg1	UTSW	7	118206887	missense	unknown
Z1176:Smg1	UTSW	7	118206907	missense	unknown
Z1177:Smg1	UTSW	7	118168608	missense	probably null
Z1177:Smg1	UTSW	7	118213033	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGCTGCAAGAGATGAGAATAGG -3'
(R):5'- AAACAAAGGTTTTCTGTTTGGGT -3'

Sequencing Primer
(F):5'- CTGCAAGAGATGAGAATAGGGAGGG -3'
(R):5'- TCTTGATGACAGACTATAGGCATGGC -3'

Posted On

2019-06-26