Mutagenetix > Incidental Mutation

Incidental Mutation 'R0522:Smg8'

48650

Institutional Source

Beutler Lab

Gene Symbol

Smg8

Ensembl Gene

ENSMUSG00000020495

Gene Name

smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)

Synonyms

1200011M11Rik

MMRRC Submission

038715-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R0522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87077732-87086774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87086462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 98 (S98T)

Ref Sequence

ENSEMBL: ENSMUSP00000020801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020801] [ENSMUST00000051395] [ENSMUST00000143280]

AlphaFold

Q8VE18

Predicted Effect

probably benign
Transcript: ENSMUST00000020801
AA Change: S98T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: S98T

Domain	Start	End	E-Value	Type
low complexity region	19	36	N/A	INTRINSIC
Pfam:DUF2146	41	985	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051395

SMART Domains

Protein: ENSMUSP00000060803
Gene: ENSMUSG00000020493

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
low complexity region	135	152	N/A	INTRINSIC
low complexity region	184	212	N/A	INTRINSIC
low complexity region	350	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143280

SMART Domains

Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495

Domain	Start	End	E-Value	Type
Pfam:DUF2146	1	269	2.9e-89	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130409I23Rik	A	C	1: 181,059,747	D299A	probably damaging	Het
Adgre5	A	G	8: 83,730,176	I192T	probably benign	Het
Adgrl3	T	C	5: 81,726,801	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,528,442		probably benign	Het
Alms1	T	C	6: 85,621,615	V1610A	probably benign	Het
Ankrd24	T	C	10: 81,636,355		probably benign	Het
C2cd3	A	G	7: 100,395,222	N337S	probably benign	Het
Cdc40	T	C	10: 40,857,612	Y114C	probably benign	Het
Cdhr1	A	T	14: 37,094,000		probably null	Het
Cfc1	G	A	1: 34,537,153	C98Y	probably damaging	Het
Cyp11b2	A	T	15: 74,851,684		probably benign	Het
Cyth4	C	A	15: 78,615,785	H255Q	possibly damaging	Het
Dip2a	T	C	10: 76,321,531	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,300,506		probably benign	Het
Edn1	T	A	13: 42,304,954	V81E	probably damaging	Het
F5	T	C	1: 164,211,763	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,280,519	M309L	probably benign	Het
Gm14221	G	A	2: 160,574,677		noncoding transcript	Het
Gnptab	T	A	10: 88,431,466		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,915,205		probably null	Het
Gpr176	A	G	2: 118,284,012	C106R	probably damaging	Het
Hdac7	A	T	15: 97,806,679		probably null	Het
Hlx	T	C	1: 184,731,640	S168G	probably damaging	Het
Hnf1a	G	T	5: 114,950,688		probably benign	Het
Hp1bp3	C	T	4: 138,222,161	L19F	possibly damaging	Het
Hspa14	T	A	2: 3,511,049	T63S	probably damaging	Het
Insrr	C	T	3: 87,800,872	S207F	probably damaging	Het
Jak3	C	A	8: 71,682,274		probably benign	Het
Jmjd7	G	A	2: 120,030,341	A91T	probably damaging	Het
Lgals9	G	T	11: 78,965,812	H265Q	possibly damaging	Het
Lrriq1	T	G	10: 103,161,777	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,461,759	T194A	probably damaging	Het
Nek5	T	A	8: 22,088,797		probably benign	Het
Pcgf2	A	C	11: 97,692,047	I135M	probably benign	Het
Phactr1	G	T	13: 43,059,591	A222S	probably benign	Het
Pla2r1	T	C	2: 60,479,515	S575G	probably benign	Het
Plcg2	T	C	8: 117,614,288		probably null	Het
Pold3	A	G	7: 100,121,383	V14A	probably damaging	Het
Polg	A	G	7: 79,460,151		probably benign	Het
Poteg	T	G	8: 27,449,958	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,981,779	C50S	probably benign	Het
Prx	T	A	7: 27,518,195	V707E	probably damaging	Het
Rrp12	C	T	19: 41,874,705		probably benign	Het
Saxo1	A	T	4: 86,445,103	V381E	probably damaging	Het
Sh2d2a	T	C	3: 87,847,109		probably null	Het
Slc26a5	A	C	5: 21,846,345	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,655,213		probably null	Het
Slc5a4b	T	C	10: 76,090,700	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010	I260V	probably benign	Het
Spg20	T	A	3: 55,128,365	S548R	probably damaging	Het
Sult6b1	C	T	17: 78,905,529	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806	Y77H	probably damaging	Het
Tet2	T	A	3: 133,466,804	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,042,870		probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,251,868	A317S	probably null	Het
Uap1l1	T	C	2: 25,363,277	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,218,249	P473L	probably damaging	Het
Ugt1a9	T	C	1: 88,071,392	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416		probably null	Het
Xrcc6	T	C	15: 82,022,592		probably benign	Het
Zfp719	A	G	7: 43,589,253		probably null	Het
Zfp804b	T	A	5: 6,772,014	T350S	probably benign	Het
Zfp959	G	T	17: 55,896,201	R61M	probably null	Het

Other mutations in Smg8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Smg8	APN	11	87078041	missense	probably damaging	0.96
IGL01591:Smg8	APN	11	87085153	missense	probably damaging	1.00
IGL01844:Smg8	APN	11	87080276	missense	probably damaging	1.00
IGL02634:Smg8	APN	11	87086672	missense	probably benign
IGL03170:Smg8	APN	11	87086608	missense	probably damaging	1.00
IGL03206:Smg8	APN	11	87085988	splice site	probably null
R0218:Smg8	UTSW	11	87086122	missense	probably damaging	1.00
R0378:Smg8	UTSW	11	87080423	missense	probably damaging	1.00
R0497:Smg8	UTSW	11	87086084	missense	possibly damaging	0.95
R0546:Smg8	UTSW	11	87083613	missense	possibly damaging	0.69
R0634:Smg8	UTSW	11	87086108	missense	possibly damaging	0.86
R1245:Smg8	UTSW	11	87083610	missense	possibly damaging	0.91
R1710:Smg8	UTSW	11	87086287	missense	probably damaging	0.98
R1726:Smg8	UTSW	11	87080613	nonsense	probably null
R1747:Smg8	UTSW	11	87085303	missense	possibly damaging	0.93
R1748:Smg8	UTSW	11	87085768	missense	probably damaging	1.00
R1909:Smg8	UTSW	11	87080613	nonsense	probably null
R1981:Smg8	UTSW	11	87085331	missense	probably benign	0.00
R2356:Smg8	UTSW	11	87085728	missense	probably benign	0.00
R4459:Smg8	UTSW	11	87085570	missense	probably benign	0.09
R4724:Smg8	UTSW	11	87086221	missense	probably benign	0.39
R4914:Smg8	UTSW	11	87080710	missense	probably damaging	1.00
R5023:Smg8	UTSW	11	87086137	missense	probably damaging	1.00
R5284:Smg8	UTSW	11	87080311	missense	possibly damaging	0.94
R5368:Smg8	UTSW	11	87080260	missense	probably benign	0.21
R5534:Smg8	UTSW	11	87085470	missense	probably benign	0.06
R5689:Smg8	UTSW	11	87085123	missense	probably damaging	0.98
R6651:Smg8	UTSW	11	87086546	missense	probably benign	0.30
R6896:Smg8	UTSW	11	87077961	missense	possibly damaging	0.46
R7030:Smg8	UTSW	11	87085093	missense	probably damaging	1.00
R7317:Smg8	UTSW	11	87085565	missense	possibly damaging	0.76
R8154:Smg8	UTSW	11	87085237	missense	possibly damaging	0.93
R8362:Smg8	UTSW	11	87078055	nonsense	probably null
R8781:Smg8	UTSW	11	87080321	missense	possibly damaging	0.52
R9295:Smg8	UTSW	11	87077963	missense	probably benign	0.00
R9360:Smg8	UTSW	11	87078130	missense	probably benign
X0028:Smg8	UTSW	11	87086122	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACGCAGAAGCTGTGAGTTGTC -3'
(R):5'- TTCACAATAGGACCGGGTGGGTTG -3'

Sequencing Primer
(F):5'- TGTGAGTTGTCACAGATGGAAG -3'
(R):5'- TCTGAGAGTCCTGGAGGC -3'

Posted On

2013-06-12