Mutagenetix > Incidental Mutation

Incidental Mutation 'R5404:Smg1'

428629

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

042975-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5404 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118131308-118243670 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118206908 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 213 (K213E)

Ref Sequence

ENSEMBL: ENSMUSP00000137172 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000032891
AA Change: K237E

SMART Domains

Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655
AA Change: K237E

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 damaging
Transcript: ENSMUST00000179047
AA Change: K213E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137172
Gene: ENSMUSG00000030655
AA Change: K213E

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,696 (GRCm38)	H297R	probably benign	Het
Ccnk	A	T	12: 108,195,623 (GRCm38)	K262N	possibly damaging	Het
Clec4b2	A	T	6: 123,181,349 (GRCm38)	Y58F	probably benign	Het
Cp	A	C	3: 19,989,128 (GRCm38)	T1027P	possibly damaging	Het
Cpox	G	A	16: 58,675,286 (GRCm38)	G322D	probably damaging	Het
Cry1	T	C	10: 85,184,419 (GRCm38)	N18S	probably damaging	Het
Dnah8	G	A	17: 30,748,568 (GRCm38)	D2585N	probably benign	Het
Dock10	A	G	1: 80,503,913 (GRCm38)		probably benign	Het
Fance	A	T	17: 28,318,060 (GRCm38)	R58W	probably null	Het
Fermt1	T	C	2: 132,934,869 (GRCm38)	D233G	possibly damaging	Het
Gabpa	T	A	16: 84,860,463 (GRCm38)	Y409N	probably damaging	Het
Gpr162	A	G	6: 124,861,643 (GRCm38)	S15P	possibly damaging	Het
Grid2	T	A	6: 63,930,910 (GRCm38)	I178N	probably damaging	Het
Il17re	T	C	6: 113,469,102 (GRCm38)	V233A	probably benign	Het
Lemd3	G	A	10: 120,931,958 (GRCm38)	Q672*	probably null	Het
Myh15	A	G	16: 49,159,978 (GRCm38)	T1488A	probably benign	Het
Narf	T	A	11: 121,242,626 (GRCm38)	H84Q	probably benign	Het
Nedd1	C	T	10: 92,716,192 (GRCm38)	V69I	probably benign	Het
Nfil3	G	A	13: 52,968,055 (GRCm38)	S271F	probably damaging	Het
Npc1	A	G	18: 12,213,299 (GRCm38)	L280P	possibly damaging	Het
Or2n1e	T	A	17: 38,275,626 (GRCm38)	L285*	probably null	Het
Or4p20	C	T	2: 88,423,801 (GRCm38)	V75M	probably damaging	Het
Or51a25	T	A	7: 102,723,600 (GRCm38)	I297F	possibly damaging	Het
Poli	A	G	18: 70,509,432 (GRCm38)	S503P	probably benign	Het
Rbm5	T	C	9: 107,765,553 (GRCm38)	E94G	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490 (GRCm38)		probably null	Het
Rps6ka5	T	C	12: 100,616,093 (GRCm38)	I173M	probably damaging	Het
Slc40a1	A	G	1: 45,912,328 (GRCm38)	L223P	probably damaging	Het
Spem1	T	A	11: 69,820,937 (GRCm38)	K300N	probably damaging	Het
Tchh	A	G	3: 93,447,675 (GRCm38)	E1474G	unknown	Het
Tenm4	A	T	7: 96,894,680 (GRCm38)	R1968W	probably damaging	Het
Tshz2	A	T	2: 169,884,320 (GRCm38)	M279L	probably benign	Het
Tuba3a	G	T	6: 125,281,592 (GRCm38)	T145K	possibly damaging	Het

Other mutations in Smg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Smg1	APN	7	118,198,271 (GRCm38)	utr 3 prime	probably benign
IGL00481:Smg1	APN	7	118,210,794 (GRCm38)	missense	possibly damaging	0.67
IGL00503:Smg1	APN	7	118,185,483 (GRCm38)	utr 3 prime	probably benign
IGL00927:Smg1	APN	7	118,140,632 (GRCm38)	missense	probably damaging	1.00
IGL01333:Smg1	APN	7	118,163,378 (GRCm38)	splice site	probably benign
IGL01344:Smg1	APN	7	118,190,836 (GRCm38)	utr 3 prime	probably benign
IGL01397:Smg1	APN	7	118,163,221 (GRCm38)	utr 3 prime	probably benign
IGL01403:Smg1	APN	7	118,158,132 (GRCm38)	utr 3 prime	probably benign
IGL01573:Smg1	APN	7	118,167,962 (GRCm38)	utr 3 prime	probably benign
IGL01872:Smg1	APN	7	118,148,944 (GRCm38)	utr 3 prime	probably benign
IGL02010:Smg1	APN	7	118,186,146 (GRCm38)	utr 3 prime	probably benign
IGL02158:Smg1	APN	7	118,212,946 (GRCm38)	missense	possibly damaging	0.77
IGL02268:Smg1	APN	7	118,182,541 (GRCm38)	missense	probably benign	0.19
IGL02314:Smg1	APN	7	118,154,709 (GRCm38)	utr 3 prime	probably benign
IGL02552:Smg1	APN	7	118,195,894 (GRCm38)	utr 3 prime	probably benign
IGL02577:Smg1	APN	7	118,203,122 (GRCm38)	missense	probably damaging	0.99
IGL02859:Smg1	APN	7	118,148,933 (GRCm38)	utr 3 prime	probably benign
IGL02890:Smg1	APN	7	118,185,501 (GRCm38)	utr 3 prime	probably benign
IGL02892:Smg1	APN	7	118,167,955 (GRCm38)	utr 3 prime	probably benign
IGL03119:Smg1	APN	7	118,195,113 (GRCm38)	utr 3 prime	probably benign
IGL03123:Smg1	APN	7	118,157,181 (GRCm38)	utr 3 prime	probably benign
IGL03128:Smg1	APN	7	118,203,059 (GRCm38)	missense	probably benign	0.03
IGL03184:Smg1	APN	7	118,180,380 (GRCm38)	missense	possibly damaging	0.86
PIT4508001:Smg1	UTSW	7	118,185,541 (GRCm38)	missense	unknown
R0010:Smg1	UTSW	7	118,171,859 (GRCm38)	utr 3 prime	probably benign
R0010:Smg1	UTSW	7	118,171,859 (GRCm38)	utr 3 prime	probably benign
R0025:Smg1	UTSW	7	118,212,443 (GRCm38)	missense	possibly damaging	0.92
R0025:Smg1	UTSW	7	118,212,443 (GRCm38)	missense	possibly damaging	0.92
R0098:Smg1	UTSW	7	118,145,467 (GRCm38)	missense	probably benign	0.02
R0139:Smg1	UTSW	7	118,152,675 (GRCm38)	critical splice donor site	probably null
R0371:Smg1	UTSW	7	118,168,300 (GRCm38)	utr 3 prime	probably benign
R0415:Smg1	UTSW	7	118,182,468 (GRCm38)	missense	probably benign	0.34
R0416:Smg1	UTSW	7	118,184,461 (GRCm38)	splice site	probably benign
R0423:Smg1	UTSW	7	118,176,880 (GRCm38)	missense	possibly damaging	0.53
R0600:Smg1	UTSW	7	118,160,383 (GRCm38)	utr 3 prime	probably benign
R0626:Smg1	UTSW	7	118,182,383 (GRCm38)	missense	possibly damaging	0.82
R0627:Smg1	UTSW	7	118,167,861 (GRCm38)	utr 3 prime	probably benign
R0727:Smg1	UTSW	7	118,166,422 (GRCm38)	utr 3 prime	probably benign
R0729:Smg1	UTSW	7	118,146,289 (GRCm38)	utr 3 prime	probably benign
R0841:Smg1	UTSW	7	118,143,301 (GRCm38)	missense	possibly damaging	0.96
R1114:Smg1	UTSW	7	118,159,790 (GRCm38)	utr 3 prime	probably benign
R1256:Smg1	UTSW	7	118,203,087 (GRCm38)	missense	probably damaging	1.00
R1298:Smg1	UTSW	7	118,168,211 (GRCm38)	utr 3 prime	probably benign
R1370:Smg1	UTSW	7	118,159,752 (GRCm38)	utr 3 prime	probably benign
R1591:Smg1	UTSW	7	118,156,919 (GRCm38)	utr 3 prime	probably benign
R1736:Smg1	UTSW	7	118,165,967 (GRCm38)	splice site	probably null
R1755:Smg1	UTSW	7	118,203,064 (GRCm38)	nonsense	probably null
R1765:Smg1	UTSW	7	118,139,715 (GRCm38)	missense	probably benign	0.03
R1789:Smg1	UTSW	7	118,145,798 (GRCm38)	missense	possibly damaging	0.73
R1845:Smg1	UTSW	7	118,154,622 (GRCm38)	utr 3 prime	probably benign
R1908:Smg1	UTSW	7	118,154,199 (GRCm38)	utr 3 prime	probably benign
R1909:Smg1	UTSW	7	118,154,199 (GRCm38)	utr 3 prime	probably benign
R1942:Smg1	UTSW	7	118,158,103 (GRCm38)	utr 3 prime	probably benign
R2064:Smg1	UTSW	7	118,156,867 (GRCm38)	utr 3 prime	probably benign
R2072:Smg1	UTSW	7	118,163,166 (GRCm38)	utr 3 prime	probably benign
R2154:Smg1	UTSW	7	118,158,076 (GRCm38)	utr 3 prime	probably benign
R2895:Smg1	UTSW	7	118,189,143 (GRCm38)	utr 3 prime	probably benign
R2915:Smg1	UTSW	7	118,210,879 (GRCm38)	splice site	probably benign
R3416:Smg1	UTSW	7	118,148,853 (GRCm38)	utr 3 prime	probably benign
R3417:Smg1	UTSW	7	118,148,853 (GRCm38)	utr 3 prime	probably benign
R3873:Smg1	UTSW	7	118,154,662 (GRCm38)	utr 3 prime	probably benign
R4082:Smg1	UTSW	7	118,160,246 (GRCm38)	utr 3 prime	probably benign
R4230:Smg1	UTSW	7	118,148,733 (GRCm38)	critical splice donor site	probably null
R4304:Smg1	UTSW	7	118,139,518 (GRCm38)	missense	probably benign	0.03
R4549:Smg1	UTSW	7	118,159,683 (GRCm38)	utr 3 prime	probably benign
R4571:Smg1	UTSW	7	118,139,465 (GRCm38)	missense	possibly damaging	0.72
R4638:Smg1	UTSW	7	118,195,926 (GRCm38)	utr 3 prime	probably benign
R4642:Smg1	UTSW	7	118,154,264 (GRCm38)	utr 3 prime	probably benign
R4656:Smg1	UTSW	7	118,212,951 (GRCm38)	missense	probably benign	0.00
R4754:Smg1	UTSW	7	118,156,731 (GRCm38)	utr 3 prime	probably benign
R4798:Smg1	UTSW	7	118,180,474 (GRCm38)	missense	probably benign	0.32
R4906:Smg1	UTSW	7	118,152,408 (GRCm38)	utr 3 prime	probably benign
R4978:Smg1	UTSW	7	118,154,247 (GRCm38)	utr 3 prime	probably benign
R4989:Smg1	UTSW	7	118,208,051 (GRCm38)	missense	probably benign
R4989:Smg1	UTSW	7	118,158,100 (GRCm38)	utr 3 prime	probably benign
R5026:Smg1	UTSW	7	118,193,545 (GRCm38)	utr 3 prime	probably benign
R5124:Smg1	UTSW	7	118,213,012 (GRCm38)	missense	probably benign	0.00
R5318:Smg1	UTSW	7	118,160,204 (GRCm38)	utr 3 prime	probably benign
R5356:Smg1	UTSW	7	118,195,133 (GRCm38)	utr 3 prime	probably benign
R5423:Smg1	UTSW	7	118,146,071 (GRCm38)	missense	possibly damaging	0.70
R5441:Smg1	UTSW	7	118,195,081 (GRCm38)	utr 3 prime	probably benign
R5490:Smg1	UTSW	7	118,139,436 (GRCm38)	missense	possibly damaging	0.86
R5541:Smg1	UTSW	7	118,157,163 (GRCm38)	utr 3 prime	probably benign
R5564:Smg1	UTSW	7	118,189,819 (GRCm38)	utr 3 prime	probably benign
R5580:Smg1	UTSW	7	118,148,902 (GRCm38)	utr 3 prime	probably benign
R5600:Smg1	UTSW	7	118,167,884 (GRCm38)	utr 3 prime	probably benign
R5628:Smg1	UTSW	7	118,154,701 (GRCm38)	utr 3 prime	probably benign
R5646:Smg1	UTSW	7	118,212,559 (GRCm38)	missense	probably benign	0.42
R5656:Smg1	UTSW	7	118,154,664 (GRCm38)	utr 3 prime	probably benign
R5660:Smg1	UTSW	7	118,143,347 (GRCm38)	missense	probably benign	0.33
R5706:Smg1	UTSW	7	118,145,590 (GRCm38)	missense	possibly damaging	0.86
R5786:Smg1	UTSW	7	118,212,897 (GRCm38)	missense	probably benign	0.12
R5890:Smg1	UTSW	7	118,190,586 (GRCm38)	utr 3 prime	probably benign
R5912:Smg1	UTSW	7	118,154,586 (GRCm38)	utr 3 prime	probably benign
R5977:Smg1	UTSW	7	118,141,357 (GRCm38)	utr 3 prime	probably benign
R5993:Smg1	UTSW	7	118,140,509 (GRCm38)	missense	probably benign	0.33
R6161:Smg1	UTSW	7	118,163,330 (GRCm38)	utr 3 prime	probably benign
R6187:Smg1	UTSW	7	118,189,163 (GRCm38)	utr 3 prime	probably benign
R6264:Smg1	UTSW	7	118,166,087 (GRCm38)	utr 3 prime	probably benign
R6331:Smg1	UTSW	7	118,154,277 (GRCm38)	utr 3 prime	probably benign
R6561:Smg1	UTSW	7	118,166,077 (GRCm38)	utr 3 prime	probably benign
R6571:Smg1	UTSW	7	118,184,514 (GRCm38)	utr 3 prime	probably benign
R6736:Smg1	UTSW	7	118,157,166 (GRCm38)	utr 3 prime	probably benign
R6752:Smg1	UTSW	7	118,163,316 (GRCm38)	utr 3 prime	probably benign
R6777:Smg1	UTSW	7	118,189,117 (GRCm38)	utr 3 prime	probably benign
R6788:Smg1	UTSW	7	118,184,571 (GRCm38)	utr 3 prime	probably benign
R6883:Smg1	UTSW	7	118,168,180 (GRCm38)	utr 3 prime	probably benign
R6991:Smg1	UTSW	7	118,167,868 (GRCm38)	utr 3 prime	probably benign
R7056:Smg1	UTSW	7	118,146,400 (GRCm38)	splice site	probably benign
R7058:Smg1	UTSW	7	118,198,279 (GRCm38)	utr 3 prime	probably benign
R7100:Smg1	UTSW	7	118,184,520 (GRCm38)	missense	unknown
R7133:Smg1	UTSW	7	118,152,908 (GRCm38)	missense	unknown
R7221:Smg1	UTSW	7	118,182,797 (GRCm38)	missense	possibly damaging	0.86
R7229:Smg1	UTSW	7	118,176,955 (GRCm38)	missense	probably benign	0.03
R7293:Smg1	UTSW	7	118,166,099 (GRCm38)	missense	unknown
R7361:Smg1	UTSW	7	118,184,977 (GRCm38)	missense	unknown
R7438:Smg1	UTSW	7	118,195,893 (GRCm38)	missense	unknown
R7686:Smg1	UTSW	7	118,167,858 (GRCm38)	missense	unknown
R7798:Smg1	UTSW	7	118,171,939 (GRCm38)	missense	possibly damaging	0.73
R7908:Smg1	UTSW	7	118,186,134 (GRCm38)	missense	unknown
R7923:Smg1	UTSW	7	118,143,322 (GRCm38)	missense	possibly damaging	0.96
R7978:Smg1	UTSW	7	118,193,655 (GRCm38)	missense	unknown
R7997:Smg1	UTSW	7	118,173,142 (GRCm38)	missense	unknown
R7997:Smg1	UTSW	7	118,173,141 (GRCm38)	missense	unknown
R8025:Smg1	UTSW	7	118,206,989 (GRCm38)	nonsense	probably null
R8056:Smg1	UTSW	7	118,160,366 (GRCm38)	missense	unknown
R8061:Smg1	UTSW	7	118,152,387 (GRCm38)	missense	unknown
R8095:Smg1	UTSW	7	118,173,062 (GRCm38)	missense	unknown
R8198:Smg1	UTSW	7	118,145,606 (GRCm38)	missense	probably benign	0.03
R8399:Smg1	UTSW	7	118,190,571 (GRCm38)	missense	unknown
R8445:Smg1	UTSW	7	118,136,977 (GRCm38)	missense	possibly damaging	0.72
R8519:Smg1	UTSW	7	118,171,759 (GRCm38)	utr 3 prime	probably benign
R8817:Smg1	UTSW	7	118,159,664 (GRCm38)	missense	unknown
R8832:Smg1	UTSW	7	118,139,783 (GRCm38)	missense	probably benign	0.33
R8855:Smg1	UTSW	7	118,206,899 (GRCm38)	missense	unknown
R8866:Smg1	UTSW	7	118,206,899 (GRCm38)	missense	unknown
R8946:Smg1	UTSW	7	118,152,677 (GRCm38)	missense	probably null
R8954:Smg1	UTSW	7	118,206,992 (GRCm38)	missense	probably damaging	1.00
R8967:Smg1	UTSW	7	118,166,516 (GRCm38)	missense	unknown
R9072:Smg1	UTSW	7	118,183,809 (GRCm38)	missense	unknown
R9090:Smg1	UTSW	7	118,212,563 (GRCm38)	missense	unknown
R9156:Smg1	UTSW	7	118,154,661 (GRCm38)	missense	unknown
R9198:Smg1	UTSW	7	118,195,956 (GRCm38)	missense	unknown
R9240:Smg1	UTSW	7	118,139,808 (GRCm38)	missense	probably benign	0.18
R9271:Smg1	UTSW	7	118,212,563 (GRCm38)	missense	unknown
R9289:Smg1	UTSW	7	118,145,416 (GRCm38)	missense	possibly damaging	0.53
R9378:Smg1	UTSW	7	118,178,775 (GRCm38)	nonsense	probably null
R9396:Smg1	UTSW	7	118,208,080 (GRCm38)	missense	unknown
R9469:Smg1	UTSW	7	118,140,551 (GRCm38)	missense	possibly damaging	0.72
R9539:Smg1	UTSW	7	118,145,753 (GRCm38)	missense	probably benign	0.03
R9549:Smg1	UTSW	7	118,196,031 (GRCm38)	missense	unknown
R9563:Smg1	UTSW	7	118,212,985 (GRCm38)	missense	unknown
R9564:Smg1	UTSW	7	118,212,985 (GRCm38)	missense	unknown
R9597:Smg1	UTSW	7	118,213,047 (GRCm38)	missense	unknown
R9643:Smg1	UTSW	7	118,156,710 (GRCm38)	missense	unknown
R9703:Smg1	UTSW	7	118,140,521 (GRCm38)	missense	possibly damaging	0.73
R9730:Smg1	UTSW	7	118,183,781 (GRCm38)	missense	unknown
Z1088:Smg1	UTSW	7	118,178,399 (GRCm38)	missense	possibly damaging	0.96
Z1088:Smg1	UTSW	7	118,168,661 (GRCm38)	nonsense	probably null
Z1088:Smg1	UTSW	7	118,154,635 (GRCm38)	utr 3 prime	probably benign
Z1176:Smg1	UTSW	7	118,206,907 (GRCm38)	missense	unknown
Z1176:Smg1	UTSW	7	118,206,887 (GRCm38)	missense	unknown
Z1177:Smg1	UTSW	7	118,213,033 (GRCm38)	missense	unknown
Z1177:Smg1	UTSW	7	118,168,608 (GRCm38)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATTCATTTTCACAGTGCTGC -3'
(R):5'- CATGGGAGACAGTCTTTTGTAAG -3'

Sequencing Primer
(F):5'- AGTGCTGCCCTCAACAGGAG -3'
(R):5'- GGAGACAGTCTTTTGTAAGATGTATC -3'

Posted On

2016-09-06