Mutagenetix > Incidental Mutation

Incidental Mutation 'R5689:Smg8'

443588

Institutional Source

Beutler Lab

Gene Symbol

Smg8

Ensembl Gene

ENSMUSG00000020495

Gene Name

SMG8 nonsense mediated mRNA decay factor

Synonyms

1200011M11Rik, smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)

MMRRC Submission

043322-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.461) question?

Stock #

R5689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86968558-86977600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86975949 bp (GRCm39)

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: 89,051,412 (GRCm39)	C844F	probably benign	Het
Afdn	T	C	17: 14,075,621 (GRCm39)	V945A	probably damaging	Het
Aimp2	T	C	5: 143,843,389 (GRCm39)	D67G	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Atp11b	G	T	3: 35,888,501 (GRCm39)	V924F	possibly damaging	Het
Atp8b1	C	T	18: 64,697,608 (GRCm39)	R412H	probably damaging	Het
Cfb	T	A	17: 35,080,770 (GRCm39)	T76S	probably benign	Het
Cmpk2	A	T	12: 26,519,766 (GRCm39)	H139L	probably benign	Het
Cypt4	T	C	9: 24,536,542 (GRCm39)	S11P	possibly damaging	Het
Dbx1	A	G	7: 49,282,519 (GRCm39)	F229L	probably damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dnah7a	A	G	1: 53,444,857 (GRCm39)	V3949A	possibly damaging	Het
Dnajc25	A	G	4: 59,017,716 (GRCm39)	E6G	probably damaging	Het
Dync2h1	C	A	9: 7,169,689 (GRCm39)	V263F	probably damaging	Het
Eno4	T	A	19: 58,959,088 (GRCm39)	D403E	probably benign	Het
Evi5l	C	T	8: 4,255,460 (GRCm39)	Q542*	probably null	Het
Fam135a	A	G	1: 24,068,134 (GRCm39)	S12P	probably benign	Het
Flnc	G	A	6: 29,441,591 (GRCm39)	A458T	probably benign	Het
Fnip1	T	C	11: 54,393,115 (GRCm39)	V517A	probably damaging	Het
Galc	G	T	12: 98,179,245 (GRCm39)	H361N	possibly damaging	Het
Gask1a	T	C	9: 121,794,754 (GRCm39)	F303L	probably damaging	Het
Gcnt1	T	A	19: 17,306,768 (GRCm39)	D319V	probably damaging	Het
Gm26996	T	C	6: 130,555,258 (GRCm39)		noncoding transcript	Het
Gm5321	A	T	7: 6,022,268 (GRCm39)		noncoding transcript	Het
Grin3b	T	C	10: 79,810,465 (GRCm39)	L657P	probably damaging	Het
Gstm5	T	C	3: 107,803,981 (GRCm39)	F54S	probably damaging	Het
Ilk	C	A	7: 105,390,857 (GRCm39)	L267I	probably benign	Het
Lifr	A	G	15: 7,214,285 (GRCm39)	Y713C	probably damaging	Het
Lnx2	A	T	5: 146,965,961 (GRCm39)	V386E	probably damaging	Het
Lrch1	T	C	14: 75,023,764 (GRCm39)	E587G	probably damaging	Het
Or10g3	C	T	14: 52,610,214 (GRCm39)	V99M	possibly damaging	Het
Osgin1	A	G	8: 120,171,728 (GRCm39)	*173W	probably null	Het
Pcdhga7	C	A	18: 37,849,736 (GRCm39)	P581H	probably damaging	Het
Pde4dip	A	T	3: 97,599,683 (GRCm39)	L2384*	probably null	Het
Phf12	T	A	11: 77,914,551 (GRCm39)	N115K	probably damaging	Het
Pmel	A	G	10: 128,552,170 (GRCm39)	T335A	probably damaging	Het
Polr3e	C	A	7: 120,539,912 (GRCm39)	T579K	possibly damaging	Het
Ptprc	A	G	1: 138,045,515 (GRCm39)	V164A	probably benign	Het
Rapsn	T	C	2: 90,866,269 (GRCm39)	F43S	probably damaging	Het
Rarb	T	A	14: 16,434,177 (GRCm38)	I334F	probably damaging	Het
Rev3l	T	C	10: 39,670,954 (GRCm39)	Y167H	probably damaging	Het
Rnf146	T	C	10: 29,223,800 (GRCm39)	T29A	probably benign	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc5a10	C	T	11: 61,598,710 (GRCm39)	M223I	probably benign	Het
Slc7a11	C	G	3: 50,326,780 (GRCm39)	V494L	probably benign	Het
Slitrk6	C	T	14: 110,989,558 (GRCm39)	E50K	probably benign	Het
Tnpo3	T	C	6: 29,571,063 (GRCm39)	M444V	possibly damaging	Het
Trav7d-4	G	A	14: 53,007,651 (GRCm39)	R48H	probably damaging	Het
Trim50	A	T	5: 135,382,516 (GRCm39)	T123S	probably damaging	Het
Trpc4ap	C	G	2: 155,512,955 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,618,620 (GRCm39)	R14475S	probably damaging	Het
Uts2	A	T	4: 151,083,565 (GRCm39)	T59S	possibly damaging	Het
Vmn1r52	T	C	6: 90,156,232 (GRCm39)	S179P	possibly damaging	Het
Vmn2r116	A	G	17: 23,616,693 (GRCm39)	H537R	probably benign	Het
Vps16	C	T	2: 130,281,011 (GRCm39)	Q226*	probably null	Het
Zfhx2	T	C	14: 55,311,360 (GRCm39)	T445A	possibly damaging	Het
Zfp638	T	C	6: 83,906,054 (GRCm39)	V73A	probably damaging	Het

Other mutations in Smg8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Smg8	APN	11	86,968,867 (GRCm39)	missense	probably damaging	0.96
IGL01591:Smg8	APN	11	86,975,979 (GRCm39)	missense	probably damaging	1.00
IGL01844:Smg8	APN	11	86,971,102 (GRCm39)	missense	probably damaging	1.00
IGL02634:Smg8	APN	11	86,977,498 (GRCm39)	missense	probably benign
IGL03170:Smg8	APN	11	86,977,434 (GRCm39)	missense	probably damaging	1.00
IGL03206:Smg8	APN	11	86,976,814 (GRCm39)	splice site	probably null
R0218:Smg8	UTSW	11	86,976,948 (GRCm39)	missense	probably damaging	1.00
R0378:Smg8	UTSW	11	86,971,249 (GRCm39)	missense	probably damaging	1.00
R0497:Smg8	UTSW	11	86,976,910 (GRCm39)	missense	possibly damaging	0.95
R0522:Smg8	UTSW	11	86,977,288 (GRCm39)	missense	probably benign
R0546:Smg8	UTSW	11	86,974,439 (GRCm39)	missense	possibly damaging	0.69
R0634:Smg8	UTSW	11	86,976,934 (GRCm39)	missense	possibly damaging	0.86
R1245:Smg8	UTSW	11	86,974,436 (GRCm39)	missense	possibly damaging	0.91
R1710:Smg8	UTSW	11	86,977,113 (GRCm39)	missense	probably damaging	0.98
R1726:Smg8	UTSW	11	86,971,439 (GRCm39)	nonsense	probably null
R1747:Smg8	UTSW	11	86,976,129 (GRCm39)	missense	possibly damaging	0.93
R1748:Smg8	UTSW	11	86,976,594 (GRCm39)	missense	probably damaging	1.00
R1909:Smg8	UTSW	11	86,971,439 (GRCm39)	nonsense	probably null
R1981:Smg8	UTSW	11	86,976,157 (GRCm39)	missense	probably benign	0.00
R2356:Smg8	UTSW	11	86,976,554 (GRCm39)	missense	probably benign	0.00
R4459:Smg8	UTSW	11	86,976,396 (GRCm39)	missense	probably benign	0.09
R4724:Smg8	UTSW	11	86,977,047 (GRCm39)	missense	probably benign	0.39
R4914:Smg8	UTSW	11	86,971,536 (GRCm39)	missense	probably damaging	1.00
R5023:Smg8	UTSW	11	86,976,963 (GRCm39)	missense	probably damaging	1.00
R5284:Smg8	UTSW	11	86,971,137 (GRCm39)	missense	possibly damaging	0.94
R5368:Smg8	UTSW	11	86,971,086 (GRCm39)	missense	probably benign	0.21
R5534:Smg8	UTSW	11	86,976,296 (GRCm39)	missense	probably benign	0.06
R6651:Smg8	UTSW	11	86,977,372 (GRCm39)	missense	probably benign	0.30
R6896:Smg8	UTSW	11	86,968,787 (GRCm39)	missense	possibly damaging	0.46
R7030:Smg8	UTSW	11	86,975,919 (GRCm39)	missense	probably damaging	1.00
R7317:Smg8	UTSW	11	86,976,391 (GRCm39)	missense	possibly damaging	0.76
R8154:Smg8	UTSW	11	86,976,063 (GRCm39)	missense	possibly damaging	0.93
R8362:Smg8	UTSW	11	86,968,881 (GRCm39)	nonsense	probably null
R8781:Smg8	UTSW	11	86,971,147 (GRCm39)	missense	possibly damaging	0.52
R9295:Smg8	UTSW	11	86,968,789 (GRCm39)	missense	probably benign	0.00
R9360:Smg8	UTSW	11	86,968,956 (GRCm39)	missense	probably benign
X0028:Smg8	UTSW	11	86,976,948 (GRCm39)	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