Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Smg1'

550763

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 #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118131308-118243670 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118184520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 1048 (H1048N)

Ref Sequence

ENSEMBL: ENSMUSP00000032891 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000032891
AA Change: H1048N

SMART Domains

Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655
AA Change: H1048N

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,552,395	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,270,897	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,537,074		probably null	Het
Amph	T	C	13: 19,149,841	*691Q	probably null	Het
Ankrd55	A	G	13: 112,356,110	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,516,815	V838I	possibly damaging	Het
Arl2	C	A	19: 6,134,744	V160F	probably benign	Het
BC067074	T	A	13: 113,318,967	F516I		Het
Catsperb	T	C	12: 101,446,038	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,625,593	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,596,114	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 132,054,815	A573T	probably benign	Het
Daxx	T	C	17: 33,911,442	S144P	probably damaging	Het
Dpp3	T	C	19: 4,918,041	D303G	probably damaging	Het
Fam126b	T	A	1: 58,534,494	T384S	possibly damaging	Het
Fam181a	T	A	12: 103,315,873	N12K	probably damaging	Het
Flg2	A	T	3: 93,203,711	R1015S	unknown	Het
Fstl5	A	G	3: 76,536,293	H315R	probably benign	Het
Fut4	A	G	9: 14,751,393	S202P	probably damaging	Het
Gm5114	T	C	7: 39,408,284	D637G	possibly damaging	Het
Gstcd	G	T	3: 133,084,943	T21K	probably benign	Het
Heca	C	T	10: 17,915,373	V312M	probably benign	Het
Herpud1	A	G	8: 94,390,847	R144G	probably damaging	Het
Hrasls5	T	A	19: 7,639,558	F313I	unknown	Het
Ino80	A	G	2: 119,374,513	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 126,591,733	T365A	probably benign	Het
Klk1	G	A	7: 44,229,424	G214E	probably damaging	Het
Lama3	A	T	18: 12,582,644	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,484,990	I365T	probably damaging	Het
Lrp8	C	A	4: 107,802,450	A13E	possibly damaging	Het
Ly75	A	G	2: 60,306,434	L1483P	probably benign	Het
Mid1	A	G	X: 169,985,077	D407G	probably benign	Het
Mpl	G	T	4: 118,457,410	A21E		Het
Mus81	C	T	19: 5,484,211	G360S	probably damaging	Het
Nmt2	T	A	2: 3,312,913	S250T	probably benign	Het
Nr1d1	C	A	11: 98,771,334	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,050,714	P36S	unknown	Het
Pcnx2	G	A	8: 125,759,114	A1915V	probably benign	Het
Peak1	A	G	9: 56,259,393	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,604,840	N262S	probably benign	Het
Ppp2r5d	A	G	17: 46,685,682	V355A	probably benign	Het
Rasa3	T	C	8: 13,586,897	T395A	probably benign	Het
Rims1	T	A	1: 22,346,473	I432F	probably benign	Het
Rnf123	C	T	9: 108,056,639	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,238,311		probably benign	Het
Shank2	T	A	7: 144,411,164	D836E	possibly damaging	Het
Slc24a5	A	C	2: 125,080,671	S118R	probably damaging	Het
Specc1l	T	G	10: 75,245,495	S242A	probably benign	Het
Tagap1	A	T	17: 6,956,712	L195Q	possibly damaging	Het
Tmem57	T	C	4: 134,806,660	D550G	probably damaging	Het
Trpc3	C	A	3: 36,650,067	E580D	probably benign	Het
Ttn	A	T	2: 76,710,822	V33940E	probably benign	Het
Upp2	G	T	2: 58,791,805	R318L	probably benign	Het
Vezt	T	A	10: 93,996,933	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,866,110	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,581,586	E769*	probably null	Het
Vnn3	T	C	10: 23,865,942	Y382H	probably damaging	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
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'- GTCACCAGTTTTGTAAGATACTGG -3'
(R):5'- GCATCTTCATCATGATTGGAACTAG -3'

Sequencing Primer
(F):5'- ATATCTATATCTATTGGGAGAGGGGG -3'
(R):5'- ACAGACTTGCCAAGACTG -3'

Posted On

2019-05-15