Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01403:Smg1'

79722

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01403

Quality Score

Status

Chromosome

Chromosomal Location

117730531-117842893 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 117757355 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: D2267E

SMART Domains

Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655
AA Change: D2267E

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,836,602 (GRCm39)	L1103Q	probably damaging	Het
Adam12	T	A	7: 133,521,339 (GRCm39)	Q605L	probably benign	Het
Adk	A	G	14: 21,284,983 (GRCm39)	K102R	probably damaging	Het
Afdn	C	T	17: 14,124,132 (GRCm39)	P1761S	probably damaging	Het
Ascc1	A	G	10: 59,848,280 (GRCm39)		probably benign	Het
Aspdh	A	G	7: 44,115,983 (GRCm39)		probably null	Het
Bbx	T	C	16: 50,022,876 (GRCm39)	I753V	probably benign	Het
Ccdc33	T	C	9: 58,024,668 (GRCm39)	Y186C	probably damaging	Het
Ccdc78	T	A	17: 26,007,218 (GRCm39)		probably null	Het
Ckmt1	T	C	2: 121,193,447 (GRCm39)		probably benign	Het
Csf1r	A	G	18: 61,247,897 (GRCm39)	T322A	probably benign	Het
Dnah7b	T	C	1: 46,155,460 (GRCm39)		probably benign	Het
Dr1	A	G	5: 108,417,576 (GRCm39)	N41D	possibly damaging	Het
Ehmt1	G	A	2: 24,729,638 (GRCm39)	T633I	possibly damaging	Het
Fgf7	T	A	2: 125,877,860 (GRCm39)	Y76N	probably damaging	Het
Hmcn1	A	T	1: 150,468,848 (GRCm39)	W5038R	probably damaging	Het
Ighv14-1	A	G	12: 113,895,862 (GRCm39)	V21A	probably damaging	Het
Igkv5-37	T	A	6: 69,940,420 (GRCm39)	I75F	probably damaging	Het
Inhbc	T	A	10: 127,205,968 (GRCm39)	I100F	probably damaging	Het
Irs3	A	G	5: 137,643,581 (GRCm39)	F68L	probably damaging	Het
Itpr3	T	A	17: 27,337,569 (GRCm39)	C2460S	probably damaging	Het
Krt34	A	G	11: 99,929,116 (GRCm39)	C365R	possibly damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Ly6g	A	G	15: 75,030,497 (GRCm39)	N82S	probably damaging	Het
Mrpl58	A	T	11: 115,297,404 (GRCm39)	I72F	probably damaging	Het
Myo9a	G	A	9: 59,778,846 (GRCm39)	R1534H	probably damaging	Het
Npat	T	A	9: 53,466,429 (GRCm39)	F239L	probably benign	Het
Nsd2	A	G	5: 34,042,722 (GRCm39)		probably benign	Het
Nuggc	T	C	14: 65,860,635 (GRCm39)	V427A	probably benign	Het
Or52b1	G	A	7: 104,978,605 (GRCm39)	R265C	probably benign	Het
Or5p55	A	G	7: 107,566,828 (GRCm39)	T75A	possibly damaging	Het
Pde4a	A	T	9: 21,116,412 (GRCm39)	I467F	probably damaging	Het
Pkhd1l1	T	A	15: 44,347,229 (GRCm39)	C198*	probably null	Het
Pla2r1	A	G	2: 60,254,632 (GRCm39)	V1312A	probably damaging	Het
Pola2	T	C	19: 6,009,121 (GRCm39)	H79R	probably benign	Het
Potefam1	T	C	2: 111,059,515 (GRCm39)		probably benign	Het
Pramel15	A	T	4: 144,103,703 (GRCm39)	M141K	probably benign	Het
Psen2	A	T	1: 180,062,548 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,334,126 (GRCm39)	K3112E	probably damaging	Het
Slc6a4	G	T	11: 76,922,498 (GRCm39)	V630L	probably benign	Het
Tmc8	A	G	11: 117,681,900 (GRCm39)	T510A	possibly damaging	Het
Usp18	T	A	6: 121,245,627 (GRCm39)	H334Q	possibly damaging	Het
Vmn2r103	T	C	17: 20,013,229 (GRCm39)	Y117H	probably benign	Het
Vps13b	T	A	15: 35,709,625 (GRCm39)	D1857E	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
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
R5600:Smg1	UTSW	7	117,767,107 (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

Posted On

2013-11-05