Mutagenetix > Incidental Mutation

Incidental Mutation 'R8154:Smg8'

633214

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

067580-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

R8154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86968558-86977600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86976063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 506 (M506K)

Ref Sequence

ENSEMBL: ENSMUSP00000020801 (fasta)

Gene Model

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

AlphaFold

Q8VE18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020801
AA Change: M506K

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: M506K

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

possibly damaging
Transcript: ENSMUST00000143280
AA Change: M49K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495
AA Change: M49K

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

Meta Mutation Damage Score

0.2388

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	T	3: 122,718,142 (GRCm39)	G12C	probably damaging	Het
Adam34l	A	T	8: 44,078,424 (GRCm39)	I600N	probably damaging	Het
Adamts10	C	A	17: 33,756,902 (GRCm39)	P357T	probably damaging	Het
Bmyc	T	A	2: 25,597,346 (GRCm39)	S137T	probably damaging	Het
Bpifa1	T	A	2: 153,987,654 (GRCm39)	M168K	possibly damaging	Het
Card11	T	G	5: 140,886,732 (GRCm39)	K339T	probably damaging	Het
Ccdc149	C	T	5: 52,542,446 (GRCm39)		probably null	Het
Ccr9	T	C	9: 123,608,896 (GRCm39)	S193P	probably benign	Het
Cracd	A	T	5: 76,989,644 (GRCm39)	E62D	unknown	Het
Csf2rb	A	G	15: 78,224,642 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,281,434 (GRCm39)	E576G	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,493 (GRCm39)	N238S	probably benign	Het
Dnaja3	C	A	16: 4,517,740 (GRCm39)	T375K	possibly damaging	Het
Espnl	C	T	1: 91,252,921 (GRCm39)	H217Y	possibly damaging	Het
Exoc4	T	C	6: 33,887,473 (GRCm39)	S754P	probably benign	Het
Fcgbp	A	G	7: 27,784,507 (GRCm39)	D189G	probably benign	Het
Gle1	T	A	2: 29,828,619 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gtf2i	A	T	5: 134,280,721 (GRCm39)	F583L	probably benign	Het
Heatr9	T	A	11: 83,402,703 (GRCm39)	Y532F	possibly damaging	Het
Hic2	C	T	16: 17,076,344 (GRCm39)	S391L	probably benign	Het
Hipk1	A	G	3: 103,656,652 (GRCm39)	V905A	probably damaging	Het
Inpp5f	T	G	7: 128,265,991 (GRCm39)	W211G	possibly damaging	Het
Katnip	T	C	7: 125,412,802 (GRCm39)	L382P	probably damaging	Het
Kcnma1	T	A	14: 23,361,822 (GRCm39)	Y1123F	possibly damaging	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Lmod3	T	A	6: 97,224,941 (GRCm39)	K293N	probably damaging	Het
Luzp1	T	C	4: 136,269,195 (GRCm39)	S473P	possibly damaging	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map4k4	T	G	1: 40,060,302 (GRCm39)	Y1030*	probably null	Het
Miga1	A	G	3: 152,026,337 (GRCm39)		probably benign	Het
Mrpl18	T	C	17: 13,130,608 (GRCm39)	E167G	probably damaging	Het
Myh4	A	G	11: 67,144,200 (GRCm39)	E1190G	probably damaging	Het
Ngef	C	T	1: 87,468,482 (GRCm39)	M92I	probably benign	Het
Nlrc4	T	A	17: 74,752,904 (GRCm39)	Y493F	probably damaging	Het
Or52s19	A	C	7: 103,007,763 (GRCm39)	C213G	probably benign	Het
Otud7a	C	A	7: 63,407,612 (GRCm39)	F638L	probably benign	Het
Padi2	T	A	4: 140,651,620 (GRCm39)		probably null	Het
Pcdhgb1	A	G	18: 37,815,596 (GRCm39)	I696V	probably damaging	Het
Pikfyve	T	C	1: 65,304,948 (GRCm39)	F1745S	probably damaging	Het
Prg2	G	A	2: 84,813,600 (GRCm39)	V199M	probably damaging	Het
Prrc2b	C	T	2: 32,108,689 (GRCm39)	A1637V	probably benign	Het
Rab3il1	A	T	19: 10,004,936 (GRCm39)	M57L	possibly damaging	Het
Rbl2	A	G	8: 91,833,825 (GRCm39)	D885G	probably damaging	Het
Rbm25	A	G	12: 83,691,205 (GRCm39)	M47V	unknown	Het
Rd3l	T	A	12: 111,946,638 (GRCm39)	H46L	probably benign	Het
Scn5a	C	G	9: 119,391,611 (GRCm39)	R27P	possibly damaging	Het
Set	T	A	2: 29,959,100 (GRCm39)	V99D	probably benign	Het
Sh3tc1	T	A	5: 35,875,696 (GRCm39)	I138F	probably damaging	Het
Slf2	T	A	19: 44,923,596 (GRCm39)	S137T	possibly damaging	Het
Stpg2	G	A	3: 139,014,938 (GRCm39)	V368M	probably damaging	Het
Trav16d-dv11	T	C	14: 53,284,999 (GRCm39)	V25A	probably damaging	Het
Ttc6	A	G	12: 57,776,210 (GRCm39)	Y1718C	probably damaging	Het
Vrk1	A	G	12: 106,036,793 (GRCm39)	K360E	probably benign	Het
Xirp2	T	A	2: 67,342,017 (GRCm39)	H1419Q	possibly damaging	Het
Yes1	T	C	5: 32,802,366 (GRCm39)	F94L	probably damaging	Het
Zc2hc1c	T	C	12: 85,336,946 (GRCm39)	L201P	probably benign	Het
Zfp638	C	T	6: 83,954,391 (GRCm39)	R1499W	probably damaging	Het
Znfx1	A	T	2: 166,897,157 (GRCm39)	L589Q	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
R5689:Smg8	UTSW	11	86,975,949 (GRCm39)	missense	probably damaging	0.98
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
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'- TGGTCAGTCAAGCTCCTCTC -3'
(R):5'- TTGAACTGCCCACTTACCAG -3'

Sequencing Primer
(F):5'- TCTTCGCACAGCTGATGG -3'
(R):5'- CAGAAGTGGATCTCTGCAGC -3'

Posted On

2020-06-30