Mutagenetix > Incidental Mutations

Incidental Mutation 'R1845:Smg1'

207647

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

039870-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1845 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118131308-118243670 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 118154622 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000032891
AA Change: Q2576R

SMART Domains

Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655
AA Change: Q2576R

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

noncoding transcript
Transcript: ENSMUST00000083940

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: ENSMUST00000208025

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,304,332	I142N	possibly damaging	Het
1110038F14Rik	CGGG	CGGGGGG	15: 76,949,663		probably benign	Het
Abca17	A	T	17: 24,267,716	C1446S	probably damaging	Het
Asb16	C	A	11: 102,276,756	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,376,544	V384I	possibly damaging	Het
BC024139	A	T	15: 76,125,261	L207*	probably null	Het
Bcl3	T	G	7: 19,809,627	S305R	probably damaging	Het
Cachd1	T	C	4: 100,777,358	V77A	probably benign	Het
Cd101	C	T	3: 101,029,448		probably null	Het
Cela1	T	C	15: 100,685,167	N64S	probably benign	Het
Cep128	T	C	12: 91,289,598	D366G	probably benign	Het
Col12a1	A	G	9: 79,697,541	V675A	probably benign	Het
Copg1	A	G	6: 87,893,818	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,487,917	R372G	probably benign	Het
Dcaf1	A	C	9: 106,851,962	I567L	probably benign	Het
Dcn	A	G	10: 97,506,674	D164G	probably benign	Het
Dnase2a	T	A	8: 84,909,322	H113Q	probably benign	Het
Espl1	T	C	15: 102,299,013	V304A	probably benign	Het
Fam193a	A	G	5: 34,443,372	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,531,035		probably null	Het
Foxp4	T	A	17: 47,877,959	T321S	probably null	Het
Fut10	A	G	8: 31,236,300	N361S	probably damaging	Het
Gm13762	A	G	2: 88,973,138	V251A	probably benign	Het
Gyg	A	T	3: 20,151,122	V94D	probably damaging	Het
Has2	T	C	15: 56,668,578	K247R	probably damaging	Het
Helz2	G	T	2: 181,232,085	D2205E	probably benign	Het
Hps6	T	A	19: 46,004,970	S449T	probably benign	Het
Ints10	T	C	8: 68,794,671	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,356,961	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,303,810	V280A	possibly damaging	Het
Klk1b5	A	G	7: 44,220,125	M210V	probably benign	Het
Kmt2c	G	A	5: 25,373,436	A614V	probably benign	Het
Lck	T	A	4: 129,558,086	I45F	probably benign	Het
Lin7a	A	C	10: 107,412,059	E75A	probably damaging	Het
Lrp1	A	T	10: 127,578,673	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 24,914,583	N289K	probably benign	Het
Mbtps1	T	C	8: 119,522,493	D686G	probably benign	Het
Mknk1	T	A	4: 115,873,231	C178*	probably null	Het
Mtmr6	A	G	14: 60,296,735	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,840,157		probably null	Het
Myh6	T	C	14: 54,944,674	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,635,531	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,927,041	F30S	probably damaging	Het
Nop14	G	T	5: 34,650,328	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1212	A	G	2: 88,958,867	I134V	probably damaging	Het
Olfr347	A	T	2: 36,734,842	I174F	probably damaging	Het
Olfr775	A	G	10: 129,250,594	E20G	probably benign	Het
Olfr794	A	T	10: 129,571,348	Q231L	probably damaging	Het
Olfr829	A	T	9: 18,857,486	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 97,059,128	S378R	probably damaging	Het
Otof	A	T	5: 30,371,723	Y1775*	probably null	Het
Parp16	T	C	9: 65,215,594	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pi16	A	T	17: 29,319,387	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,539,452	M190I	probably benign	Het
Plscr4	T	G	9: 92,490,046	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,723,806	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,368,611	L15Q	probably damaging	Het
Ptpn14	C	A	1: 189,839,502	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,954,899	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,497,070	Y342*	probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sltm	A	G	9: 70,543,032	N38S	possibly damaging	Het
Spsb1	A	T	4: 149,906,910	V67E	probably damaging	Het
Suox	A	G	10: 128,670,539	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,911,085	I483N	probably damaging	Het
Tbcb	A	T	7: 30,224,499	D198E	possibly damaging	Het
Tbce	T	C	13: 14,019,709	K122E	probably benign	Het
Tcap	T	A	11: 98,384,379	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,041	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,374,503	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,579,943	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,431,355	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,458,903	W1103R	probably damaging	Het
Ttn	C	T	2: 76,764,033	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,812,738	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,454,554	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,001,995	Y394*	probably null	Het
Zfp212	T	C	6: 47,931,541	S485P	probably benign	Het
Zfp512b	A	T	2: 181,585,735	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,671,741	Y974H	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACACTGGCTGATGAGGTGTG -3'
(R):5'- AAGCTGCAAATGGCCTTTG -3'

Sequencing Primer
(F):5'- CTTGCCCAGCATTCTGTAGAAAGG -3'
(R):5'- CTGCAAATGGCCTTTGACTTTG -3'

Posted On

2014-06-23