Mutagenetix > Incidental Mutation

Incidental Mutation 'R5689:Smg8'

443588

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

043322-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.469) question?

Stock #

R5689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87077732-87086774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87085123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 544 (F544S)

Ref Sequence

ENSEMBL: ENSMUSP00000020801 (fasta)

Gene Model

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

AlphaFold

Q8VE18

Predicted Effect

probably damaging
Transcript: ENSMUST00000020801
AA Change: F544S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: F544S

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 damaging
Transcript: ENSMUST00000143280
AA Change: F87S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495
AA Change: F87S

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

Meta Mutation Damage Score

0.7060

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	T	8: 88,324,784	C844F	probably benign	Het
Afdn	T	C	17: 13,855,359	V945A	probably damaging	Het
Aimp2	T	C	5: 143,906,571	D67G	possibly damaging	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Atp11b	G	T	3: 35,834,352	V924F	possibly damaging	Het
Atp8b1	C	T	18: 64,564,537	R412H	probably damaging	Het
Cfb	T	A	17: 34,861,794	T76S	probably benign	Het
Cmpk2	A	T	12: 26,469,767	H139L	probably benign	Het
Cypt4	T	C	9: 24,625,246	S11P	possibly damaging	Het
Dbx1	A	G	7: 49,632,771	F229L	probably damaging	Het
Dnah6	T	A	6: 73,021,227	M4071L	probably benign	Het
Dnah7a	A	G	1: 53,405,698	V3949A	possibly damaging	Het
Dnajc25	A	G	4: 59,017,716	E6G	probably damaging	Het
Dync2h1	C	A	9: 7,169,689	V263F	probably damaging	Het
Eno4	T	A	19: 58,970,656	D403E	probably benign	Het
Evi5l	C	T	8: 4,205,460	Q542*	probably null	Het
Fam135a	A	G	1: 24,029,053	S12P	probably benign	Het
Fam198a	T	C	9: 121,965,688	F303L	probably damaging	Het
Flnc	G	A	6: 29,441,592	A458T	probably benign	Het
Fnip1	T	C	11: 54,502,289	V517A	probably damaging	Het
Galc	G	T	12: 98,212,986	H361N	possibly damaging	Het
Gcnt1	T	A	19: 17,329,404	D319V	probably damaging	Het
Gm26996	T	C	6: 130,578,295		noncoding transcript	Het
Gm5321	A	T	7: 6,019,269		noncoding transcript	Het
Grin3b	T	C	10: 79,974,631	L657P	probably damaging	Het
Gstm5	T	C	3: 107,896,665	F54S	probably damaging	Het
Ilk	C	A	7: 105,741,650	L267I	probably benign	Het
Lifr	A	G	15: 7,184,804	Y713C	probably damaging	Het
Lnx2	A	T	5: 147,029,151	V386E	probably damaging	Het
Lrch1	T	C	14: 74,786,324	E587G	probably damaging	Het
Olfr1512	C	T	14: 52,372,757	V99M	possibly damaging	Het
Osgin1	A	G	8: 119,444,989	*173W	probably null	Het
Pcdhga7	C	A	18: 37,716,683	P581H	probably damaging	Het
Pde4dip	A	T	3: 97,692,367	L2384*	probably null	Het
Phf12	T	A	11: 78,023,725	N115K	probably damaging	Het
Pmel	A	G	10: 128,716,301	T335A	probably damaging	Het
Polr3e	C	A	7: 120,940,689	T579K	possibly damaging	Het
Ptprc	A	G	1: 138,117,777	V164A	probably benign	Het
Rapsn	T	C	2: 91,035,924	F43S	probably damaging	Het
Rarb	T	A	14: 16,434,177	I334F	probably damaging	Het
Rev3l	T	C	10: 39,794,958	Y167H	probably damaging	Het
Rnf146	T	C	10: 29,347,804	T29A	probably benign	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,579,934		probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Slc5a10	C	T	11: 61,707,884	M223I	probably benign	Het
Slc7a11	C	G	3: 50,372,331	V494L	probably benign	Het
Slitrk6	C	T	14: 110,752,126	E50K	probably benign	Het
Tnpo3	T	C	6: 29,571,064	M444V	possibly damaging	Het
Trav7d-4	G	A	14: 52,770,194	R48H	probably damaging	Het
Trim50	A	T	5: 135,353,662	T123S	probably damaging	Het
Trpc4ap	C	G	2: 155,671,035		probably null	Het
Ttn	T	A	2: 76,788,276	R14475S	probably damaging	Het
Uts2	A	T	4: 150,999,108	T59S	possibly damaging	Het
Vmn1r52	T	C	6: 90,179,250	S179P	possibly damaging	Het
Vmn2r116	A	G	17: 23,397,719	H537R	probably benign	Het
Vps16	C	T	2: 130,439,091	Q226*	probably null	Het
Zfhx2	T	C	14: 55,073,903	T445A	possibly damaging	Het
Zfp638	T	C	6: 83,929,072	V73A	probably damaging	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
R0522:Smg8	UTSW	11	87086462	missense	probably benign
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
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'- AAAGCACAGCTCCAGTTTTCAG -3'
(R):5'- CACTGGGGAGCTAACATCTAAG -3'

Sequencing Primer
(F):5'- ACAGCTCCAGTTTTCAGTTCAAAC -3'
(R):5'- GGGAGCTAACATCTAAGATTTTAAGC -3'

Posted On

2016-11-09