Mutagenetix > Incidental Mutation

Incidental Mutation 'R5534:Smg8'

434729

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

043092-MU

Accession Numbers

Essential gene?

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

Stock #

R5534 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86968558-86977600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86976296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 428 (D428E)

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: D428E

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: D428E

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,155,530 (GRCm39)	D163V	probably benign	Het
Ank2	A	T	3: 126,740,947 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,814,442 (GRCm39)	E355G	probably damaging	Het
Ankmy2	A	G	12: 36,232,491 (GRCm39)	N172S	probably damaging	Het
Ankrd50	A	G	3: 38,510,231 (GRCm39)	M712T	probably damaging	Het
Apcdd1	T	C	18: 63,070,105 (GRCm39)	I124T	probably benign	Het
Carmil3	A	G	14: 55,732,347 (GRCm39)	K256R	probably damaging	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Ccdc141	A	G	2: 76,888,241 (GRCm39)	V508A	probably benign	Het
Ccdc33	A	G	9: 58,024,450 (GRCm39)	S226P	possibly damaging	Het
Cep72	T	C	13: 74,210,335 (GRCm39)	E9G	probably benign	Het
Clca4b	A	T	3: 144,621,227 (GRCm39)	Y616N	probably damaging	Het
Cnot4	A	G	6: 35,054,939 (GRCm39)	S117P	possibly damaging	Het
Col11a2	C	T	17: 34,269,998 (GRCm39)	A429V	probably damaging	Het
Col4a4	T	C	1: 82,465,238 (GRCm39)	E979G	unknown	Het
Coq10b	T	C	1: 55,103,359 (GRCm39)	Y46H	possibly damaging	Het
Cplane1	C	A	15: 8,258,319 (GRCm39)	F2188L	probably benign	Het
Dnah17	T	C	11: 117,943,596 (GRCm39)	T3169A	possibly damaging	Het
Dock6	G	A	9: 21,714,372 (GRCm39)	R1824*	probably null	Het
Dsp	A	C	13: 38,379,818 (GRCm39)	I1589L	probably benign	Het
Edil3	A	G	13: 89,347,593 (GRCm39)	T383A	probably benign	Het
Efemp1	T	C	11: 28,817,758 (GRCm39)	V79A	probably damaging	Het
Esyt1	C	T	10: 128,355,329 (GRCm39)	V471I	probably benign	Het
Fbxo30	T	C	10: 11,165,409 (GRCm39)	S44P	possibly damaging	Het
Fdx2	G	T	9: 20,984,562 (GRCm39)	D57E	probably benign	Het
Gbp11	A	T	5: 105,478,904 (GRCm39)	V178D	probably damaging	Het
Gna11	A	T	10: 81,366,967 (GRCm39)	I283N	probably damaging	Het
Grid2	A	T	6: 63,480,345 (GRCm39)	Q53L	probably benign	Het
Jmjd6	A	G	11: 116,731,252 (GRCm39)	S266P	probably damaging	Het
Kirrel1	G	A	3: 86,997,825 (GRCm39)	R233C	probably damaging	Het
Kmt2d	A	G	15: 98,735,238 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,686,267 (GRCm39)	T1171S	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med13	A	T	11: 86,210,191 (GRCm39)	S650R	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mgat1	T	C	11: 49,151,976 (GRCm39)	V153A	probably benign	Het
Mmp16	A	T	4: 18,110,452 (GRCm39)	D416V	probably damaging	Het
Myh3	A	T	11: 66,987,870 (GRCm39)	R1448W	probably damaging	Het
Nedd1	A	T	10: 92,530,894 (GRCm39)	F398L	probably benign	Het
Or2a14	A	G	6: 43,130,567 (GRCm39)	I109M	probably benign	Het
Or4k45	T	C	2: 111,395,349 (GRCm39)	T147A	probably benign	Het
Or5ac17	T	C	16: 59,036,403 (GRCm39)	D191G	probably benign	Het
Or5g9	T	C	2: 85,552,331 (GRCm39)	I194T	probably benign	Het
Otud3	A	G	4: 138,624,894 (GRCm39)	L269P	probably damaging	Het
Otx1	A	G	11: 21,946,296 (GRCm39)		probably benign	Het
Pcdhga7	A	C	18: 37,849,331 (GRCm39)	D446A	probably damaging	Het
Pcnx2	T	G	8: 126,564,754 (GRCm39)	K1046N	possibly damaging	Het
Pfkp	C	A	13: 6,698,619 (GRCm39)	G33W	probably damaging	Het
Poglut2	C	T	1: 44,151,837 (GRCm39)	V351M	probably damaging	Het
Pold1	A	G	7: 44,188,043 (GRCm39)	I585T	probably damaging	Het
Pole4	A	G	6: 82,629,115 (GRCm39)	Y84H	possibly damaging	Het
Pramel26	G	T	4: 143,539,169 (GRCm39)	S108*	probably null	Het
Ptpn23	A	G	9: 110,221,809 (GRCm39)	S126P	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rin3	T	C	12: 102,353,891 (GRCm39)	L766P	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rras2	G	A	7: 113,649,650 (GRCm39)	T138I	possibly damaging	Het
Scrn2	A	G	11: 96,921,751 (GRCm39)	I74V	probably benign	Het
Sema6d	T	C	2: 124,501,735 (GRCm39)	I526T	possibly damaging	Het
Shd	G	T	17: 56,278,577 (GRCm39)	E47*	probably null	Het
Slc22a27	T	C	19: 7,903,996 (GRCm39)	H47R	probably damaging	Het
Slc36a3	C	G	11: 55,033,595 (GRCm39)	W141S	possibly damaging	Het
Slc9c1	T	A	16: 45,376,977 (GRCm39)	V429E	probably benign	Het
Snrpe	A	T	1: 133,534,211 (GRCm39)	F84Y	probably benign	Het
Tbc1d2b	C	T	9: 90,109,559 (GRCm39)	D306N	possibly damaging	Het
Trav9n-4	A	G	14: 53,532,356 (GRCm39)	Y70C	probably damaging	Het
Tut7	A	G	13: 59,936,367 (GRCm39)	F843L	probably damaging	Het
Ush1c	A	G	7: 45,870,847 (GRCm39)	I330T	probably damaging	Het
Wnt11	T	C	7: 98,488,349 (GRCm39)	L12P	probably damaging	Het
Zan	A	G	5: 137,436,713 (GRCm39)	S2047P	unknown	Het
Zfp763	A	C	17: 33,240,768 (GRCm39)	S20R	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
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
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'- ACTATGAGCCATGGGTAAAGC -3'
(R):5'- CCAGAATCGTTGTTGGTGCC -3'

Sequencing Primer
(F):5'- CATGGGTAAAGCTTTTTGGCACC -3'
(R):5'- GTTGTTGGTGCCCGCAC -3'

Posted On

2016-10-24