Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02215:Smg5'

284818

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 #

IGL02215

Quality Score

Status

Chromosome

Chromosomal Location

88336260-88362338 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88352998 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 632 (S632P)

Ref Sequence

ENSEMBL: ENSMUSP00000001451 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001451
AA Change: S632P

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: S632P

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

probably benign
Transcript: ENSMUST00000192009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193097

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 127,395,573	S378R	probably benign	Het
Abca14	T	A	7: 120,253,389	M859K	probably benign	Het
Adamts13	C	T	2: 26,985,483	P462S	probably damaging	Het
Apol7a	G	T	15: 77,393,490	D19E	possibly damaging	Het
Armc8	T	C	9: 99,483,978	N628D	possibly damaging	Het
Astn2	T	A	4: 66,266,234	I209F	unknown	Het
Atp10b	T	C	11: 43,194,665		probably null	Het
C4b	C	T	17: 34,734,491	C1006Y	probably damaging	Het
Capn13	A	G	17: 73,330,998	L470P	probably damaging	Het
Col4a4	T	C	1: 82,453,809	R1585G	unknown	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Csmd3	C	T	15: 47,585,688	V3637M	probably damaging	Het
Dgki	C	T	6: 37,016,675	D584N	probably damaging	Het
Dmrt2	T	C	19: 25,678,134	S366P	probably damaging	Het
Dmtf1	A	C	5: 9,136,070	L172R	probably damaging	Het
Efhc2	A	G	X: 17,230,578	F177L	probably damaging	Het
Enpep	T	A	3: 129,270,277		probably benign	Het
Enpp6	A	T	8: 47,065,932	D245V	probably damaging	Het
Fam199x	T	A	X: 137,062,650		probably benign	Het
Fkbp4	A	T	6: 128,434,470		probably benign	Het
Gas7	A	G	11: 67,643,332	H86R	probably benign	Het
Gcc2	A	G	10: 58,271,636	N862S	probably benign	Het
Gstm7	T	C	3: 107,930,278	D115G	possibly damaging	Het
Gtse1	C	A	15: 85,862,598	P205Q	possibly damaging	Het
Herc4	G	A	10: 63,273,566	M193I	probably benign	Het
Hist1h2ba	A	T	13: 23,934,110	F16Y	probably benign	Het
Igfl3	T	A	7: 18,179,838	C38S	possibly damaging	Het
Il18rap	G	A	1: 40,547,922	D455N	probably damaging	Het
Ints8	A	G	4: 11,209,244	I932T	probably damaging	Het
Itgbl1	A	C	14: 123,972,141	I311L	probably benign	Het
Jmjd1c	A	T	10: 67,220,322	H794L	probably damaging	Het
Kif1a	A	G	1: 93,020,549	S1542P	probably benign	Het
Klc3	T	A	7: 19,395,825	N373I	probably damaging	Het
Lcn2	T	C	2: 32,384,865	*201W	probably null	Het
Ldhb	A	T	6: 142,495,566		probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Npat	T	A	9: 53,559,117	S348T	probably benign	Het
Pclo	A	T	5: 14,856,985	D5001V	unknown	Het
Peg3	C	A	7: 6,709,011	A1071S	probably benign	Het
Piwil2	A	T	14: 70,391,373	D731E	possibly damaging	Het
Prss41	T	A	17: 23,843,856	D35V	probably benign	Het
Ptprz1	T	A	6: 22,965,182	D159E	possibly damaging	Het
Rabep1	C	T	11: 70,923,197	Q571*	probably null	Het
Scn8a	A	G	15: 101,029,572		probably null	Het
Sipa1l2	G	A	8: 125,447,837	T1234I	possibly damaging	Het
Slc5a10	T	A	11: 61,673,912	M414L	probably benign	Het
Smim15	A	G	13: 108,047,514	D18G	probably benign	Het
Sorl1	T	A	9: 42,018,182	I1132F	probably damaging	Het
Spatc1	T	C	15: 76,283,539		probably benign	Het
Sytl2	A	T	7: 90,381,214		probably benign	Het
Tesc	A	G	5: 118,061,618	D195G	probably damaging	Het
Tmem39b	T	A	4: 129,692,518		probably null	Het
Vmn2r52	A	G	7: 10,171,102	V270A	probably damaging	Het
Wdr3	C	A	3: 100,146,700		probably null	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
IGL01371:Smg5	APN	3	88359644	unclassified	probably benign
IGL01536:Smg5	APN	3	88349245	missense	possibly damaging	0.58
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
Z1177:Smg5	UTSW	3	88351134	missense	probably damaging	1.00
Z1177:Smg5	UTSW	3	88352990	missense	probably benign	0.33

Posted On

2015-04-16