Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Smg1'

194290

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

039797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118131308-118243670 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118139715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 3489 (I3489V)

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: I3489V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655
AA Change: I3489V

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: ENSMUST00000178025

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207162

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	C	4: 35,197,098	H322Q	probably damaging	Het
4933412E24Rik	G	T	15: 60,015,345	C415*	probably null	Het
A430105I19Rik	G	A	2: 118,760,647	A135V	probably benign	Het
Adamtsl2	A	C	2: 27,102,830	I652L	probably benign	Het
Adgrl4	T	C	3: 151,543,235	I720T	probably damaging	Het
Agrn	A	T	4: 156,176,827	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,805,585		probably null	Het
B3galt2	C	A	1: 143,646,469	N114K	probably benign	Het
Bud23	A	T	5: 135,056,043	M59K	probably benign	Het
C3	C	T	17: 57,224,401		probably null	Het
Cc2d2a	A	T	5: 43,714,531	D903V	probably damaging	Het
Ccdc105	A	T	10: 78,748,668	M340K	probably benign	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,720,749	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,394,918	N62I	probably benign	Het
Cdc27	G	T	11: 104,534,781	Q70K	probably damaging	Het
Cenpq	A	T	17: 40,924,287		probably null	Het
Cep295	T	C	9: 15,327,904	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,505,531	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,353,868	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,864,594	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,190,303	Q104*	probably null	Het
Dglucy	T	A	12: 100,850,102		probably null	Het
Dnajc9	A	G	14: 20,388,090	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,902,140	D396V	possibly damaging	Het
Dock10	T	A	1: 80,605,823	I221F	probably damaging	Het
Dscam	T	C	16: 96,685,379	N1032S	probably benign	Het
Dsg4	A	C	18: 20,456,831	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,249,415	H417R	probably benign	Het
Dysf	G	A	6: 84,190,902		probably null	Het
Elovl1	A	G	4: 118,430,510	M1V	probably null	Het
Eva1c	A	G	16: 90,904,247	S257G	probably benign	Het
Eya2	A	T	2: 165,724,803	D258V	probably damaging	Het
Fam193a	A	G	5: 34,436,497	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Fstl5	G	T	3: 76,593,476	R404L	possibly damaging	Het
Glud1	T	C	14: 34,325,584		probably benign	Het
Gm10770	A	C	2: 150,179,338	H86Q	probably damaging	Het
Gm13757	A	T	2: 88,446,023	F305Y	probably damaging	Het
Gm5724	T	C	6: 141,754,358		probably benign	Het
Gzme	C	T	14: 56,118,414	G147D	probably damaging	Het
Herc3	T	C	6: 58,888,660	V746A	probably damaging	Het
Hmga1	A	G	17: 27,559,618	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,420,812	K206*	probably null	Het
Kng2	A	G	16: 22,988,243		probably null	Het
Lrrc41	G	A	4: 116,089,051	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 131,058,761	M1K	probably null	Het
Me2	A	G	18: 73,791,858	F263L	probably damaging	Het
Mkks	A	G	2: 136,880,367	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772	I255N	probably damaging	Het
Mogs	A	G	6: 83,116,803	D251G	probably benign	Het
Morf4l1	T	A	9: 90,102,348	Y65F	possibly damaging	Het
Neb	T	C	2: 52,204,664	D5169G	probably damaging	Het
Nin	A	G	12: 70,042,891	L1250P	probably damaging	Het
Nomo1	G	T	7: 46,066,293	G721V	possibly damaging	Het
Notch2	T	G	3: 98,121,926	C1002G	probably damaging	Het
Npat	T	C	9: 53,570,222	Y1077H	probably benign	Het
Olfr1284	G	A	2: 111,379,146	V49I	probably benign	Het
Olfr193	A	G	16: 59,109,755	L285P	probably damaging	Het
Olfr376	T	A	11: 73,375,344	N198K	probably damaging	Het
Olfr894	T	C	9: 38,219,252	I143T	probably benign	Het
Otop2	A	T	11: 115,324,678	I142F	probably benign	Het
Pacsin3	A	G	2: 91,263,115	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,413,447	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,821,860	H729R	probably benign	Het
Plcd1	T	C	9: 119,071,806	D756G	probably damaging	Het
Prune2	A	G	19: 17,125,598	E2707G	probably damaging	Het
Rit2	C	T	18: 31,316,898	G16S	probably damaging	Het
Sec24c	A	G	14: 20,688,854		probably benign	Het
Skint5	G	T	4: 113,577,661	T1037K	unknown	Het
Slc28a2	T	A	2: 122,460,395		probably null	Het
Slc41a2	G	A	10: 83,301,266	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,473,579	I537F	possibly damaging	Het
Smchd1	A	T	17: 71,400,201		probably benign	Het
Sytl3	T	C	17: 6,699,683	L142P	probably damaging	Het
Tfr2	C	T	5: 137,583,445	T598I	probably damaging	Het
Tmc2	A	G	2: 130,260,225	Q770R	probably benign	Het
Tnc	C	T	4: 64,013,994	V728M	probably damaging	Het
Trim68	A	T	7: 102,680,390	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,559,188	D325G	probably benign	Het
Ube3a	C	T	7: 59,286,114	T582I	probably damaging	Het
Usp13	G	A	3: 32,915,770	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,161,269	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,637,496	M86K	probably damaging	Het
Vsig10	A	G	5: 117,318,815		probably benign	Het
Zbtb41	T	A	1: 139,440,394	C607S	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
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
R7229:Smg1	UTSW	7	118176955	missense	probably benign	0.03
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'- GGACTTGAACATTCATTTGCTGCATCG -3'
(R):5'- TCAGTGGGCTACAACAGTCATTTTGG -3'

Sequencing Primer
(F):5'- TGACTAGGGGTGATGCAAAAC -3'
(R):5'- GCTTTTAATCAAGGGGTAACTGTC -3'

Posted On

2014-05-23