Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01371:Smg5'

76163

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smg5

Ensembl Gene

ENSMUSG00000001415

Gene Name

Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01371

Quality Score

Status

Chromosome

Chromosomal Location

88336260-88362338 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 88359644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001451] [ENSMUST00000147948] [ENSMUST00000147991]

AlphaFold

Q6ZPY2

Predicted Effect

probably benign
Transcript: ENSMUST00000001451

SMART Domains

Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
Pfam:EST1	77	189	1.1e-26	PFAM
Pfam:EST1_DNA_bind	197	427	4.6e-53	PFAM
low complexity region	447	468	N/A	INTRINSIC
low complexity region	481	501	N/A	INTRINSIC
Pfam:EST1_DNA_bind	611	745	3.7e-9	PFAM
coiled coil region	801	842	N/A	INTRINSIC
PINc	856	979	3.23e-15	SMART
low complexity region	990	999	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123200

Predicted Effect

probably benign
Transcript: ENSMUST00000147948

SMART Domains

Protein: ENSMUSP00000119656
Gene: ENSMUSG00000041423

Domain	Start	End	E-Value	Type
Pfam:HlyIII	59	161	6.8e-18	PFAM
transmembrane domain	180	202	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147991

SMART Domains

Protein: ENSMUSP00000114166
Gene: ENSMUSG00000041423

Domain	Start	End	E-Value	Type
Pfam:HlyIII	43	271	5.5e-51	PFAM
transmembrane domain	292	314	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194359

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,254,776	E504G	possibly damaging	Het
Abcc9	C	T	6: 142,656,614	R691Q	probably benign	Het
AI314180	A	G	4: 58,809,718	L1583P	probably damaging	Het
Ambra1	G	T	2: 91,825,286	G700W	probably damaging	Het
Atp6v1c1	A	G	15: 38,682,960	I198V	probably benign	Het
Bptf	T	C	11: 107,055,907	N2353S	probably benign	Het
Cd84	A	T	1: 171,886,370	T312S	probably benign	Het
Chl1	G	T	6: 103,715,364	C1064F	probably damaging	Het
Clca4a	T	C	3: 144,960,672	D473G	probably damaging	Het
Dsp	A	G	13: 38,193,617	R1793G	probably benign	Het
Dync1h1	A	G	12: 110,638,851	N2374S	probably benign	Het
Gm43191	A	T	3: 116,645,463	I130N	probably damaging	Het
Gm5134	T	G	10: 76,004,747	L475R	probably damaging	Het
Grm1	A	G	10: 10,720,039	V615A	probably benign	Het
Loxl1	T	A	9: 58,294,422	Q462L	possibly damaging	Het
Nwd1	T	C	8: 72,675,115	W755R	probably damaging	Het
Olfr1102	A	T	2: 87,002,923	K318M	probably benign	Het
Olfr1408	A	G	1: 173,130,531	S229P	possibly damaging	Het
Olfr1459	G	A	19: 13,145,828	T277I	possibly damaging	Het
Otud4	T	C	8: 79,673,761	F1034L	probably damaging	Het
Pakap	C	A	4: 57,856,325	D551E	probably benign	Het
Panx3	T	G	9: 37,661,475	T260P	probably benign	Het
Ppfia4	A	T	1: 134,328,086	S194T	probably benign	Het
Rnf135	T	A	11: 80,189,255	I124N	probably benign	Het
Rpf1	T	C	3: 146,507,547	N283S	probably damaging	Het
Stard9	A	G	2: 120,701,368	E2702G	probably benign	Het
Tbk1	A	T	10: 121,559,871	M439K	probably benign	Het
Tmem235	T	C	11: 117,862,306	L85P	possibly damaging	Het
Trhde	A	T	10: 114,588,500	V460E	possibly damaging	Het
Ttn	T	C	2: 76,790,264		probably benign	Het
Vmn1r83	A	G	7: 12,321,233	F299S	probably benign	Het

Other mutations in Smg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Smg5	APN	3	88351428	nonsense	probably null
IGL00902:Smg5	APN	3	88353085	missense	probably benign	0.00
IGL00990:Smg5	APN	3	88343038	critical splice donor site	probably null
IGL01536:Smg5	APN	3	88349245	missense	possibly damaging	0.58
IGL02215:Smg5	APN	3	88352998	missense	possibly damaging	0.47
IGL03366:Smg5	APN	3	88346452	nonsense	probably null
R0013:Smg5	UTSW	3	88349233	missense	probably benign	0.00
R0017:Smg5	UTSW	3	88351105	missense	probably damaging	1.00
R0017:Smg5	UTSW	3	88351105	missense	probably damaging	1.00
R0129:Smg5	UTSW	3	88349233	missense	probably benign	0.00
R0153:Smg5	UTSW	3	88353872	unclassified	probably benign
R1386:Smg5	UTSW	3	88355671	missense	probably damaging	1.00
R1941:Smg5	UTSW	3	88345380	missense	possibly damaging	0.71
R2185:Smg5	UTSW	3	88351561	missense	probably benign
R2282:Smg5	UTSW	3	88345398	missense	probably benign	0.02
R3615:Smg5	UTSW	3	88336451	missense	possibly damaging	0.94
R3616:Smg5	UTSW	3	88336451	missense	possibly damaging	0.94
R4008:Smg5	UTSW	3	88349158	missense	probably benign	0.01
R4687:Smg5	UTSW	3	88342469	missense	possibly damaging	0.83
R4726:Smg5	UTSW	3	88336451	missense	possibly damaging	0.94
R4801:Smg5	UTSW	3	88355692	nonsense	probably null
R4802:Smg5	UTSW	3	88355692	nonsense	probably null
R4977:Smg5	UTSW	3	88355725	nonsense	probably null
R5384:Smg5	UTSW	3	88351293	missense	probably damaging	1.00
R5443:Smg5	UTSW	3	88354589	missense	probably damaging	0.99
R5779:Smg5	UTSW	3	88351618	unclassified	probably benign
R5860:Smg5	UTSW	3	88342907	missense	probably damaging	0.97
R6080:Smg5	UTSW	3	88351509	missense	probably benign
R6263:Smg5	UTSW	3	88341901	missense	possibly damaging	0.90
R6431:Smg5	UTSW	3	88351220	missense	probably benign	0.00
R6722:Smg5	UTSW	3	88353025	missense	probably damaging	0.99
R6847:Smg5	UTSW	3	88342552	missense	probably damaging	1.00
R6950:Smg5	UTSW	3	88349269	critical splice donor site	probably null
R7091:Smg5	UTSW	3	88351347	missense	probably benign	0.00
R7395:Smg5	UTSW	3	88361071	missense	probably damaging	0.99
R7678:Smg5	UTSW	3	88353895	missense	possibly damaging	0.93
R7796:Smg5	UTSW	3	88349432	missense	probably damaging	0.96
R8209:Smg5	UTSW	3	88351531	missense	probably benign	0.00
R8327:Smg5	UTSW	3	88345407	missense	probably damaging	1.00
R8987:Smg5	UTSW	3	88360407	critical splice donor site	probably null
R9345:Smg5	UTSW	3	88354541	missense	probably damaging	1.00
R9534:Smg5	UTSW	3	88345452	missense	probably benign	0.13
Z1177:Smg5	UTSW	3	88351134	missense	probably damaging	1.00
Z1177:Smg5	UTSW	3	88352990	missense	probably benign	0.33

Posted On

2013-10-07