Mutagenetix > Incidental Mutation

Incidental Mutation 'R5600:Smg1'

438988

Institutional Source

Beutler Lab

Gene Symbol

Smg1

Ensembl Gene

ENSMUSG00000030655

Gene Name

SMG1 nonsense mediated mRNA decay associated PI3K related kinase

Synonyms

5430435M13Rik, SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans), 2610207I05Rik, C130002K18Rik

MMRRC Submission

043152-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5600 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117730531-117842893 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 117767107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000032891
AA Change: V1795A

SMART Domains

Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655
AA Change: V1795A

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: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	A	C	15: 77,519,288 (GRCm39)	M264R	probably damaging	Het
Asprv1	G	T	6: 86,606,044 (GRCm39)	E297*	probably null	Het
Atp6v1c1	T	C	15: 38,687,107 (GRCm39)	V234A	probably benign	Het
Ccp110	G	A	7: 118,328,948 (GRCm39)		probably null	Het
Cfap251	T	C	5: 123,426,761 (GRCm39)	V383A	possibly damaging	Het
Fgfrl1	T	C	5: 108,853,168 (GRCm39)	C173R	probably damaging	Het
Gm5431	G	A	11: 48,785,583 (GRCm39)	T264M	possibly damaging	Het
Golga1	T	C	2: 38,910,111 (GRCm39)	E637G	probably damaging	Het
Gpr158	A	G	2: 21,832,046 (GRCm39)	T1049A	probably benign	Het
Hcn4	T	A	9: 58,766,576 (GRCm39)		probably null	Het
Krt86	G	A	15: 101,374,386 (GRCm39)	V260I	probably benign	Het
Ktn1	A	T	14: 47,927,490 (GRCm39)	Q548L	probably damaging	Het
Lingo4	A	T	3: 94,309,220 (GRCm39)	I53F	probably benign	Het
Lrrk1	A	C	7: 65,956,963 (GRCm39)	I336S	probably benign	Het
Magel2	G	T	7: 62,029,514 (GRCm39)	G806V	unknown	Het
Mrc2	T	A	11: 105,224,492 (GRCm39)	S501T	probably damaging	Het
Mrps18a	T	A	17: 46,436,575 (GRCm39)	L128*	probably null	Het
Mtor	G	T	4: 148,575,927 (GRCm39)	L1360F	probably damaging	Het
Mtpap	A	G	18: 4,379,674 (GRCm39)	E88G	probably damaging	Het
Myo5c	A	G	9: 75,196,436 (GRCm39)	K1294R	probably benign	Het
Or10al2	G	A	17: 37,983,176 (GRCm39)	M87I	possibly damaging	Het
Pik3c3	G	A	18: 30,444,346 (GRCm39)	V520M	probably damaging	Het
Pptc7	T	A	5: 122,458,918 (GRCm39)	V305E	probably damaging	Het
Ptgfrn	T	C	3: 100,963,566 (GRCm39)	D682G	probably damaging	Het
Rfx6	A	T	10: 51,599,157 (GRCm39)	Q538L	probably damaging	Het
Sbk1	G	A	7: 125,891,415 (GRCm39)	R283H	probably damaging	Het
Sfswap	T	C	5: 129,590,222 (GRCm39)	F240L	probably damaging	Het
Siglec1	T	A	2: 130,927,503 (GRCm39)	H101L	probably benign	Het
Spink5	A	G	18: 44,151,778 (GRCm39)	T986A	probably damaging	Het
Stat1	T	A	1: 52,188,101 (GRCm39)	S496T	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tenm2	C	T	11: 36,054,541 (GRCm39)		probably null	Het
Tiam1	G	T	16: 89,662,253 (GRCm39)	R622S	probably damaging	Het
Vmn2r109	C	A	17: 20,761,189 (GRCm39)	D723Y	probably damaging	Het
Vmn2r70	G	T	7: 85,212,935 (GRCm39)	Q491K	probably benign	Het
Wnk1	A	C	6: 119,926,319 (GRCm39)	S1297R	probably damaging	Het
Zan	C	T	5: 137,385,233 (GRCm39)	V5067I	unknown	Het
Zfp108	A	G	7: 23,960,011 (GRCm39)	S201G	probably benign	Het

Other mutations in Smg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Smg1	APN	7	117,797,494 (GRCm39)	utr 3 prime	probably benign
IGL00481:Smg1	APN	7	117,810,017 (GRCm39)	missense	possibly damaging	0.67
IGL00503:Smg1	APN	7	117,784,706 (GRCm39)	utr 3 prime	probably benign
IGL00927:Smg1	APN	7	117,739,855 (GRCm39)	missense	probably damaging	1.00
IGL01333:Smg1	APN	7	117,762,601 (GRCm39)	splice site	probably benign
IGL01344:Smg1	APN	7	117,790,059 (GRCm39)	utr 3 prime	probably benign
IGL01397:Smg1	APN	7	117,762,444 (GRCm39)	utr 3 prime	probably benign
IGL01403:Smg1	APN	7	117,757,355 (GRCm39)	utr 3 prime	probably benign
IGL01573:Smg1	APN	7	117,767,185 (GRCm39)	utr 3 prime	probably benign
IGL01872:Smg1	APN	7	117,748,167 (GRCm39)	utr 3 prime	probably benign
IGL02010:Smg1	APN	7	117,785,369 (GRCm39)	utr 3 prime	probably benign
IGL02158:Smg1	APN	7	117,812,169 (GRCm39)	missense	possibly damaging	0.77
IGL02268:Smg1	APN	7	117,781,764 (GRCm39)	missense	probably benign	0.19
IGL02314:Smg1	APN	7	117,753,932 (GRCm39)	utr 3 prime	probably benign
IGL02552:Smg1	APN	7	117,795,117 (GRCm39)	utr 3 prime	probably benign
IGL02577:Smg1	APN	7	117,802,345 (GRCm39)	missense	probably damaging	0.99
IGL02859:Smg1	APN	7	117,748,156 (GRCm39)	utr 3 prime	probably benign
IGL02890:Smg1	APN	7	117,784,724 (GRCm39)	utr 3 prime	probably benign
IGL02892:Smg1	APN	7	117,767,178 (GRCm39)	utr 3 prime	probably benign
IGL03119:Smg1	APN	7	117,794,336 (GRCm39)	utr 3 prime	probably benign
IGL03123:Smg1	APN	7	117,756,404 (GRCm39)	utr 3 prime	probably benign
IGL03128:Smg1	APN	7	117,802,282 (GRCm39)	missense	probably benign	0.03
IGL03184:Smg1	APN	7	117,779,603 (GRCm39)	missense	possibly damaging	0.86
PIT4508001:Smg1	UTSW	7	117,784,764 (GRCm39)	missense	unknown
R0010:Smg1	UTSW	7	117,771,082 (GRCm39)	utr 3 prime	probably benign
R0010:Smg1	UTSW	7	117,771,082 (GRCm39)	utr 3 prime	probably benign
R0025:Smg1	UTSW	7	117,811,666 (GRCm39)	missense	possibly damaging	0.92
R0025:Smg1	UTSW	7	117,811,666 (GRCm39)	missense	possibly damaging	0.92
R0098:Smg1	UTSW	7	117,744,690 (GRCm39)	missense	probably benign	0.02
R0139:Smg1	UTSW	7	117,751,898 (GRCm39)	critical splice donor site	probably null
R0371:Smg1	UTSW	7	117,767,523 (GRCm39)	utr 3 prime	probably benign
R0415:Smg1	UTSW	7	117,781,691 (GRCm39)	missense	probably benign	0.34
R0416:Smg1	UTSW	7	117,783,684 (GRCm39)	splice site	probably benign
R0423:Smg1	UTSW	7	117,776,103 (GRCm39)	missense	possibly damaging	0.53
R0600:Smg1	UTSW	7	117,759,606 (GRCm39)	utr 3 prime	probably benign
R0626:Smg1	UTSW	7	117,781,606 (GRCm39)	missense	possibly damaging	0.82
R0627:Smg1	UTSW	7	117,767,084 (GRCm39)	utr 3 prime	probably benign
R0727:Smg1	UTSW	7	117,765,645 (GRCm39)	utr 3 prime	probably benign
R0729:Smg1	UTSW	7	117,745,512 (GRCm39)	utr 3 prime	probably benign
R0841:Smg1	UTSW	7	117,742,524 (GRCm39)	missense	possibly damaging	0.96
R1114:Smg1	UTSW	7	117,759,013 (GRCm39)	utr 3 prime	probably benign
R1256:Smg1	UTSW	7	117,802,310 (GRCm39)	missense	probably damaging	1.00
R1298:Smg1	UTSW	7	117,767,434 (GRCm39)	utr 3 prime	probably benign
R1370:Smg1	UTSW	7	117,758,975 (GRCm39)	utr 3 prime	probably benign
R1591:Smg1	UTSW	7	117,756,142 (GRCm39)	utr 3 prime	probably benign
R1736:Smg1	UTSW	7	117,765,190 (GRCm39)	splice site	probably null
R1755:Smg1	UTSW	7	117,802,287 (GRCm39)	nonsense	probably null
R1765:Smg1	UTSW	7	117,738,938 (GRCm39)	missense	probably benign	0.03
R1789:Smg1	UTSW	7	117,745,021 (GRCm39)	missense	possibly damaging	0.73
R1845:Smg1	UTSW	7	117,753,845 (GRCm39)	utr 3 prime	probably benign
R1908:Smg1	UTSW	7	117,753,422 (GRCm39)	utr 3 prime	probably benign
R1909:Smg1	UTSW	7	117,753,422 (GRCm39)	utr 3 prime	probably benign
R1942:Smg1	UTSW	7	117,757,326 (GRCm39)	utr 3 prime	probably benign
R2064:Smg1	UTSW	7	117,756,090 (GRCm39)	utr 3 prime	probably benign
R2072:Smg1	UTSW	7	117,762,389 (GRCm39)	utr 3 prime	probably benign
R2154:Smg1	UTSW	7	117,757,299 (GRCm39)	utr 3 prime	probably benign
R2895:Smg1	UTSW	7	117,788,366 (GRCm39)	utr 3 prime	probably benign
R2915:Smg1	UTSW	7	117,810,102 (GRCm39)	splice site	probably benign
R3416:Smg1	UTSW	7	117,748,076 (GRCm39)	utr 3 prime	probably benign
R3417:Smg1	UTSW	7	117,748,076 (GRCm39)	utr 3 prime	probably benign
R3873:Smg1	UTSW	7	117,753,885 (GRCm39)	utr 3 prime	probably benign
R4082:Smg1	UTSW	7	117,759,469 (GRCm39)	utr 3 prime	probably benign
R4230:Smg1	UTSW	7	117,747,956 (GRCm39)	critical splice donor site	probably null
R4304:Smg1	UTSW	7	117,738,741 (GRCm39)	missense	probably benign	0.03
R4549:Smg1	UTSW	7	117,758,906 (GRCm39)	utr 3 prime	probably benign
R4571:Smg1	UTSW	7	117,738,688 (GRCm39)	missense	possibly damaging	0.72
R4638:Smg1	UTSW	7	117,795,149 (GRCm39)	utr 3 prime	probably benign
R4642:Smg1	UTSW	7	117,753,487 (GRCm39)	utr 3 prime	probably benign
R4656:Smg1	UTSW	7	117,812,174 (GRCm39)	missense	probably benign	0.00
R4754:Smg1	UTSW	7	117,755,954 (GRCm39)	utr 3 prime	probably benign
R4798:Smg1	UTSW	7	117,779,697 (GRCm39)	missense	probably benign	0.32
R4906:Smg1	UTSW	7	117,751,631 (GRCm39)	utr 3 prime	probably benign
R4978:Smg1	UTSW	7	117,753,470 (GRCm39)	utr 3 prime	probably benign
R4989:Smg1	UTSW	7	117,807,274 (GRCm39)	missense	probably benign
R4989:Smg1	UTSW	7	117,757,323 (GRCm39)	utr 3 prime	probably benign
R5026:Smg1	UTSW	7	117,792,768 (GRCm39)	utr 3 prime	probably benign
R5124:Smg1	UTSW	7	117,812,235 (GRCm39)	missense	probably benign	0.00
R5318:Smg1	UTSW	7	117,759,427 (GRCm39)	utr 3 prime	probably benign
R5356:Smg1	UTSW	7	117,794,356 (GRCm39)	utr 3 prime	probably benign
R5404:Smg1	UTSW	7	117,806,131 (GRCm39)	missense	probably damaging	1.00
R5423:Smg1	UTSW	7	117,745,294 (GRCm39)	missense	possibly damaging	0.70
R5441:Smg1	UTSW	7	117,794,304 (GRCm39)	utr 3 prime	probably benign
R5490:Smg1	UTSW	7	117,738,659 (GRCm39)	missense	possibly damaging	0.86
R5541:Smg1	UTSW	7	117,756,386 (GRCm39)	utr 3 prime	probably benign
R5564:Smg1	UTSW	7	117,789,042 (GRCm39)	utr 3 prime	probably benign
R5580:Smg1	UTSW	7	117,748,125 (GRCm39)	utr 3 prime	probably benign
R5628:Smg1	UTSW	7	117,753,924 (GRCm39)	utr 3 prime	probably benign
R5646:Smg1	UTSW	7	117,811,782 (GRCm39)	missense	probably benign	0.42
R5656:Smg1	UTSW	7	117,753,887 (GRCm39)	utr 3 prime	probably benign
R5660:Smg1	UTSW	7	117,742,570 (GRCm39)	missense	probably benign	0.33
R5706:Smg1	UTSW	7	117,744,813 (GRCm39)	missense	possibly damaging	0.86
R5786:Smg1	UTSW	7	117,812,120 (GRCm39)	missense	probably benign	0.12
R5890:Smg1	UTSW	7	117,789,809 (GRCm39)	utr 3 prime	probably benign
R5912:Smg1	UTSW	7	117,753,809 (GRCm39)	utr 3 prime	probably benign
R5977:Smg1	UTSW	7	117,740,580 (GRCm39)	utr 3 prime	probably benign
R5993:Smg1	UTSW	7	117,739,732 (GRCm39)	missense	probably benign	0.33
R6161:Smg1	UTSW	7	117,762,553 (GRCm39)	utr 3 prime	probably benign
R6187:Smg1	UTSW	7	117,788,386 (GRCm39)	utr 3 prime	probably benign
R6264:Smg1	UTSW	7	117,765,310 (GRCm39)	utr 3 prime	probably benign
R6331:Smg1	UTSW	7	117,753,500 (GRCm39)	utr 3 prime	probably benign
R6561:Smg1	UTSW	7	117,765,300 (GRCm39)	utr 3 prime	probably benign
R6571:Smg1	UTSW	7	117,783,737 (GRCm39)	utr 3 prime	probably benign
R6736:Smg1	UTSW	7	117,756,389 (GRCm39)	utr 3 prime	probably benign
R6752:Smg1	UTSW	7	117,762,539 (GRCm39)	utr 3 prime	probably benign
R6777:Smg1	UTSW	7	117,788,340 (GRCm39)	utr 3 prime	probably benign
R6788:Smg1	UTSW	7	117,783,794 (GRCm39)	utr 3 prime	probably benign
R6883:Smg1	UTSW	7	117,767,403 (GRCm39)	utr 3 prime	probably benign
R6991:Smg1	UTSW	7	117,767,091 (GRCm39)	utr 3 prime	probably benign
R7056:Smg1	UTSW	7	117,745,623 (GRCm39)	splice site	probably benign
R7058:Smg1	UTSW	7	117,797,502 (GRCm39)	utr 3 prime	probably benign
R7100:Smg1	UTSW	7	117,783,743 (GRCm39)	missense	unknown
R7133:Smg1	UTSW	7	117,752,131 (GRCm39)	missense	unknown
R7221:Smg1	UTSW	7	117,782,020 (GRCm39)	missense	possibly damaging	0.86
R7229:Smg1	UTSW	7	117,776,178 (GRCm39)	missense	probably benign	0.03
R7293:Smg1	UTSW	7	117,765,322 (GRCm39)	missense	unknown
R7361:Smg1	UTSW	7	117,784,200 (GRCm39)	missense	unknown
R7438:Smg1	UTSW	7	117,795,116 (GRCm39)	missense	unknown
R7686:Smg1	UTSW	7	117,767,081 (GRCm39)	missense	unknown
R7798:Smg1	UTSW	7	117,771,162 (GRCm39)	missense	possibly damaging	0.73
R7908:Smg1	UTSW	7	117,785,357 (GRCm39)	missense	unknown
R7923:Smg1	UTSW	7	117,742,545 (GRCm39)	missense	possibly damaging	0.96
R7978:Smg1	UTSW	7	117,792,878 (GRCm39)	missense	unknown
R7997:Smg1	UTSW	7	117,772,365 (GRCm39)	missense	unknown
R7997:Smg1	UTSW	7	117,772,364 (GRCm39)	missense	unknown
R8025:Smg1	UTSW	7	117,806,212 (GRCm39)	nonsense	probably null
R8056:Smg1	UTSW	7	117,759,589 (GRCm39)	missense	unknown
R8061:Smg1	UTSW	7	117,751,610 (GRCm39)	missense	unknown
R8095:Smg1	UTSW	7	117,772,285 (GRCm39)	missense	unknown
R8198:Smg1	UTSW	7	117,744,829 (GRCm39)	missense	probably benign	0.03
R8399:Smg1	UTSW	7	117,789,794 (GRCm39)	missense	unknown
R8445:Smg1	UTSW	7	117,736,200 (GRCm39)	missense	possibly damaging	0.72
R8519:Smg1	UTSW	7	117,770,982 (GRCm39)	utr 3 prime	probably benign
R8817:Smg1	UTSW	7	117,758,887 (GRCm39)	missense	unknown
R8832:Smg1	UTSW	7	117,739,006 (GRCm39)	missense	probably benign	0.33
R8855:Smg1	UTSW	7	117,806,122 (GRCm39)	missense	unknown
R8866:Smg1	UTSW	7	117,806,122 (GRCm39)	missense	unknown
R8946:Smg1	UTSW	7	117,751,900 (GRCm39)	missense	probably null
R8954:Smg1	UTSW	7	117,806,215 (GRCm39)	missense	probably damaging	1.00
R8967:Smg1	UTSW	7	117,765,739 (GRCm39)	missense	unknown
R9072:Smg1	UTSW	7	117,783,032 (GRCm39)	missense	unknown
R9090:Smg1	UTSW	7	117,811,786 (GRCm39)	missense	unknown
R9156:Smg1	UTSW	7	117,753,884 (GRCm39)	missense	unknown
R9198:Smg1	UTSW	7	117,795,179 (GRCm39)	missense	unknown
R9240:Smg1	UTSW	7	117,739,031 (GRCm39)	missense	probably benign	0.18
R9271:Smg1	UTSW	7	117,811,786 (GRCm39)	missense	unknown
R9289:Smg1	UTSW	7	117,744,639 (GRCm39)	missense	possibly damaging	0.53
R9378:Smg1	UTSW	7	117,777,998 (GRCm39)	nonsense	probably null
R9396:Smg1	UTSW	7	117,807,303 (GRCm39)	missense	unknown
R9469:Smg1	UTSW	7	117,739,774 (GRCm39)	missense	possibly damaging	0.72
R9539:Smg1	UTSW	7	117,744,976 (GRCm39)	missense	probably benign	0.03
R9549:Smg1	UTSW	7	117,795,254 (GRCm39)	missense	unknown
R9563:Smg1	UTSW	7	117,812,208 (GRCm39)	missense	unknown
R9564:Smg1	UTSW	7	117,812,208 (GRCm39)	missense	unknown
R9597:Smg1	UTSW	7	117,812,270 (GRCm39)	missense	unknown
R9643:Smg1	UTSW	7	117,755,933 (GRCm39)	missense	unknown
R9703:Smg1	UTSW	7	117,739,744 (GRCm39)	missense	possibly damaging	0.73
R9730:Smg1	UTSW	7	117,783,004 (GRCm39)	missense	unknown
Z1088:Smg1	UTSW	7	117,777,622 (GRCm39)	missense	possibly damaging	0.96
Z1088:Smg1	UTSW	7	117,767,884 (GRCm39)	nonsense	probably null
Z1088:Smg1	UTSW	7	117,753,858 (GRCm39)	utr 3 prime	probably benign
Z1176:Smg1	UTSW	7	117,806,130 (GRCm39)	missense	unknown
Z1176:Smg1	UTSW	7	117,806,110 (GRCm39)	missense	unknown
Z1177:Smg1	UTSW	7	117,812,256 (GRCm39)	missense	unknown
Z1177:Smg1	UTSW	7	117,767,831 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAAACTGTTCTGGTTGTTCTATG -3'
(R):5'- GCACCGTCTTCTAAGGGAATTC -3'

Sequencing Primer
(F):5'- CTGGTTGTTCTATGAAGTAGCATG -3'
(R):5'- CACCGTCTTCTAAGGGAATTCATTTG -3'

Posted On

2016-10-26