Mutagenetix > Incidental Mutation

Incidental Mutation 'R1755:Smg1'

194778

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

039787-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118131308-118243670 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 118203064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 270 (C270*)

Ref Sequence

ENSEMBL: ENSMUSP00000137172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032891] [ENSMUST00000179047]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000032891
AA Change: C294*

SMART Domains

Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655
AA Change: C294*

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 null
Transcript: ENSMUST00000179047
AA Change: C270*

SMART Domains

Protein: ENSMUSP00000137172
Gene: ENSMUSG00000030655
AA Change: C270*

Domain	Start	End	E-Value	Type
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

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: ENSMUST00000179847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208209

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	T	G	6: 40,926,162	Y92S	probably damaging	Het
4933402J07Rik	G	A	8: 87,588,957	R225H	possibly damaging	Het
9330159F19Rik	A	T	10: 29,222,294	H199L	possibly damaging	Het
Acaca	AC	A	11: 84,276,564		probably null	Het
Adam23	G	A	1: 63,543,170	V326M	probably damaging	Het
Aldh1a2	T	A	9: 71,261,741	Y168*	probably null	Het
Ano6	A	G	15: 95,972,570	K869E	possibly damaging	Het
Aplp2	G	A	9: 31,177,104	A106V	probably damaging	Het
Arhgdib	T	A	6: 136,929,614	K30*	probably null	Het
Arl11	A	G	14: 61,310,944	T68A	probably benign	Het
Atg7	A	G	6: 114,673,677	T83A	possibly damaging	Het
Card9	T	C	2: 26,359,534	E5G	probably damaging	Het
Cars	A	G	7: 143,569,457	V474A	probably damaging	Het
Cd300ld2	A	G	11: 115,013,775	F89L	probably benign	Het
Celf2	T	A	2: 6,884,958	M1L	probably benign	Het
Cnot1	T	C	8: 95,724,577	D2174G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cox6b2	A	G	7: 4,751,938	F74S	probably damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Ddx3y	A	G	Y: 1,279,543	I107T	probably benign	Het
Dnah5	A	T	15: 28,326,636	Y1997F	probably damaging	Het
Epha4	A	T	1: 77,387,823	I683N	probably damaging	Het
Fam120a	G	T	13: 48,885,743	A979E	possibly damaging	Het
Gm13103	T	C	4: 143,850,810	F3S	probably damaging	Het
Gmip	A	G	8: 69,814,124	I296M	probably damaging	Het
Gpr37l1	A	G	1: 135,166,901	S202P	probably damaging	Het
Ifi208	C	A	1: 173,677,910	D75E	possibly damaging	Het
Il24	T	C	1: 130,883,943	N132S	possibly damaging	Het
Katnal2	A	G	18: 77,012,067	C124R	probably benign	Het
Kcnq3	A	T	15: 65,995,421	L791Q	probably damaging	Het
Kcns3	T	A	12: 11,091,444	D418V	probably benign	Het
Kif13a	A	G	13: 46,752,613	V618A	possibly damaging	Het
Kif13a	A	T	13: 46,773,678	V1179E	possibly damaging	Het
Lpp	A	G	16: 24,845,124	I259V	probably benign	Het
Mapkapk2	A	G	1: 131,058,350		probably null	Het
March7	T	C	2: 60,234,921	S514P	probably benign	Het
Mgea5	A	T	19: 45,758,406	M735K	possibly damaging	Het
Nr4a2	T	A	2: 57,109,092	L381F	probably damaging	Het
Nt5dc3	A	G	10: 86,824,251	D328G	probably damaging	Het
Obox6	T	C	7: 15,834,520	K144E	probably damaging	Het
Olfml2b	G	A	1: 170,681,777	V565M	probably damaging	Het
Olfr412	T	C	11: 74,364,993	V108A	probably damaging	Het
Orc3	G	A	4: 34,575,114	A590V	possibly damaging	Het
Picalm	T	C	7: 90,160,549	S78P	possibly damaging	Het
Por	T	A	5: 135,729,485	Y105*	probably null	Het
Ppara	A	G	15: 85,797,979	K292R	probably benign	Het
Ralgds	T	A	2: 28,550,546	I844N	probably damaging	Het
Rttn	T	C	18: 89,009,317	Y519H	probably damaging	Het
Scn9a	A	G	2: 66,501,716	V1261A	probably benign	Het
Slc2a2	T	A	3: 28,713,662		probably null	Het
Slc5a7	T	C	17: 54,292,978	M136V	probably benign	Het
Smc4	C	A	3: 69,034,108	A1232E	probably damaging	Het
Sparcl1	C	T	5: 104,092,824	E245K	probably benign	Het
Taf2	T	C	15: 55,016,454	H1162R	probably damaging	Het
Tlr3	T	C	8: 45,397,973	D105G	probably benign	Het
Tmem62	T	C	2: 120,984,477		probably null	Het
Triobp	G	A	15: 78,966,479	A278T	probably benign	Het
Ufd1	T	G	16: 18,823,253	C151W	probably damaging	Het
Upk1b	T	G	16: 38,780,040	M193L	probably benign	Het
Usp15	A	G	10: 123,133,044	M334T	probably damaging	Het
Utp20	A	G	10: 88,809,769	S541P	probably benign	Het
Vmn1r61	A	T	7: 5,611,303	L4*	probably null	Het
Vmn2r96	G	A	17: 18,582,653	G83D	possibly damaging	Het
Wdr60	A	G	12: 116,226,029	L620P	probably damaging	Het
Zbtb8a	T	C	4: 129,354,317	D387G	possibly damaging	Het
Zfp106	A	T	2: 120,535,175	N250K	probably damaging	Het
Zfp292	A	G	4: 34,811,043	V667A	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
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
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'- TCACCACTGTTAGGAGAGCAGACC -3'
(R):5'- ACTGTCAAGAGTTCATGTGCCACC -3'

Sequencing Primer
(F):5'- GAGCAGACCAATCAACTCCTTTG -3'
(R):5'- agagttcatgtgccACCATGTC -3'

Posted On

2014-05-23