Mutagenetix > Incidental Mutation

Incidental Mutation 'R8781:Smg8'

670264

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

068605-MU

Accession Numbers

Essential gene?

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

Stock #

R8781 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86968558-86977600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86971147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 875 (P875S)

Ref Sequence

ENSEMBL: ENSMUSP00000020801 (fasta)

Gene Model

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

AlphaFold

Q8VE18

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020801
AA Change: P875S

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: P875S

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: ENSMUST00000143280

SMART Domains

Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	G	19: 3,767,538 (GRCm39)	D375G	possibly damaging	Het
Abi3bp	C	T	16: 56,426,512 (GRCm39)	T509I	probably damaging	Het
Atp13a2	T	A	4: 140,723,691 (GRCm39)	C257S	probably benign	Het
Ccdc183	T	A	2: 25,502,208 (GRCm39)		probably benign	Het
Cd109	C	T	9: 78,543,929 (GRCm39)	P158S	probably damaging	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cog5	T	A	12: 31,883,249 (GRCm39)	W393R	probably damaging	Het
Cyth1	C	T	11: 118,073,069 (GRCm39)	R277Q	probably damaging	Het
Ddx54	G	T	5: 120,751,217 (GRCm39)	R6L	probably benign	Het
Dnah8	T	A	17: 30,944,078 (GRCm39)	I1765N	probably damaging	Het
Erp27	G	A	6: 136,886,458 (GRCm39)	Q192*	probably null	Het
Fam81a	T	A	9: 70,032,381 (GRCm39)	H37L	probably damaging	Het
Fbn2	A	G	18: 58,194,719 (GRCm39)	S1481P	possibly damaging	Het
Fbp1	T	G	13: 63,016,831 (GRCm39)	I224L	probably benign	Het
Fhit	A	G	14: 10,421,503 (GRCm38)	V32A	probably damaging	Het
Gapvd1	T	A	2: 34,610,698 (GRCm39)	H495L	probably benign	Het
Gas2l3	T	C	10: 89,266,841 (GRCm39)	D33G	probably damaging	Het
Heatr5b	A	T	17: 79,102,738 (GRCm39)	D1213E	probably benign	Het
Hsf2bp	C	G	17: 32,252,241 (GRCm39)	E65Q	possibly damaging	Het
Kif28	G	T	1: 179,525,481 (GRCm39)	T937K	probably benign	Het
Klf6	T	A	13: 5,915,071 (GRCm39)	V170D	probably benign	Het
Kri1	A	T	9: 21,191,748 (GRCm39)	S283T		Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lct	A	G	1: 128,215,261 (GRCm39)	Y1772H	probably damaging	Het
Lrrc37	T	A	11: 103,508,958 (GRCm39)	E1003D	unknown	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Or2b2b	A	G	13: 21,859,013 (GRCm39)	S34P	probably damaging	Het
Or52j3	T	A	7: 102,836,082 (GRCm39)	D91E	probably benign	Het
Or8c14-ps1	T	G	9: 38,101,385 (GRCm39)	D121E	probably damaging	Het
Parg	T	A	14: 31,936,400 (GRCm39)	D518E	probably benign	Het
Pcx	G	A	19: 4,670,980 (GRCm39)	A1095T	probably damaging	Het
Pde1b	G	A	15: 103,433,727 (GRCm39)	V342M	probably damaging	Het
Pik3r2	C	T	8: 71,222,046 (GRCm39)	G579D	possibly damaging	Het
Pknox1	G	A	17: 31,821,837 (GRCm39)		probably benign	Het
Pla2g3	C	A	11: 3,438,530 (GRCm39)	T60K	probably benign	Het
Ppfia3	C	T	7: 44,997,953 (GRCm39)	E725K	possibly damaging	Het
Ppl	C	T	16: 4,915,800 (GRCm39)	V588I	possibly damaging	Het
Sardh	T	A	2: 27,086,715 (GRCm39)	E815V	possibly damaging	Het
Scn7a	T	C	2: 66,567,775 (GRCm39)	E273G	probably benign	Het
Slc7a8	A	T	14: 54,996,996 (GRCm39)		probably benign	Het
Sncaip	T	C	18: 53,039,614 (GRCm39)	S603P	probably benign	Het
Speg	G	A	1: 75,383,665 (GRCm39)	G1218S	probably damaging	Het
Stk31	A	T	6: 49,383,709 (GRCm39)	D92V	probably damaging	Het
Suco	A	G	1: 161,645,951 (GRCm39)	V1250A	probably damaging	Het
Tas2r138	A	G	6: 40,589,850 (GRCm39)	V132A	probably benign	Het
Tcp1	T	C	17: 13,143,263 (GRCm39)	I524T	probably damaging	Het
Tenm3	CTGCTGTGAAATG	C	8: 48,795,484 (GRCm39)		probably null	Het
Tln2	C	A	9: 67,163,233 (GRCm39)	V1105L	probably damaging	Het
Tmem19	T	C	10: 115,195,563 (GRCm39)		probably benign	Het
Tmprss4	T	C	9: 45,087,740 (GRCm39)	Y283C	possibly damaging	Het
Trim29	T	A	9: 43,222,615 (GRCm39)	V148D	probably benign	Het
Trip10	C	T	17: 57,562,313 (GRCm39)	A277V	probably benign	Het
Usp12	C	A	5: 146,700,172 (GRCm39)	R61L	probably benign	Het
Vmn1r58	T	G	7: 5,413,482 (GRCm39)	L249F	probably benign	Het
Vmn2r31	C	T	7: 7,387,400 (GRCm39)	V724I	possibly damaging	Het
Vmn2r66	C	T	7: 84,644,355 (GRCm39)	W685*	probably null	Het
Vmn2r8	A	G	5: 108,945,597 (GRCm39)	I670T	possibly damaging	Het
Vmn2r91	T	A	17: 18,305,323 (GRCm39)	M2K	possibly damaging	Het
Wdr12	A	G	1: 60,126,300 (GRCm39)	W172R	probably damaging	Het
Yipf5	A	T	18: 40,340,752 (GRCm39)	V200E	possibly damaging	Het
Zfp608	T	C	18: 55,031,801 (GRCm39)	K713R	probably damaging	Het
Zfp768	A	G	7: 126,942,476 (GRCm39)	S554P	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
R8154:Smg8	UTSW	11	86,976,063 (GRCm39)	missense	possibly damaging	0.93
R8362:Smg8	UTSW	11	86,968,881 (GRCm39)	nonsense	probably null
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'- AAGGGAAGGGTTGCATTTCC -3'
(R):5'- GTCATCAGGACTAGAGCTGAAGATG -3'

Sequencing Primer
(F):5'- AAGGGTTGCATTTCCTACCTGAG -3'
(R):5'- TTAGACACGAACTCCTGGCCTG -3'

Posted On

2021-04-30