Mutagenetix > Incidental Mutation

Incidental Mutation 'R0634:Smg8'

58161

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

038823-MU

Accession Numbers

Essential gene?

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

Stock #

R0634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86968558-86977600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86976934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 216 (T216A)

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: T216A

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495
AA Change: T216A

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

Meta Mutation Damage Score

0.1042

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,264,491 (GRCm39)	I2958V	possibly damaging	Het
Adam21	C	A	12: 81,607,126 (GRCm39)	W212L	probably benign	Het
Adcy2	A	C	13: 68,876,064 (GRCm39)	H479Q	possibly damaging	Het
Adcy4	T	C	14: 56,019,054 (GRCm39)	R168G	probably benign	Het
Adrm1b	C	T	3: 92,336,116 (GRCm39)	W125*	probably null	Het
Atp13a2	T	C	4: 140,734,240 (GRCm39)		probably benign	Het
C1ra	G	A	6: 124,494,464 (GRCm39)	E304K	possibly damaging	Het
Cc2d2a	A	C	5: 43,838,723 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,952,588 (GRCm39)	L1426P	probably damaging	Het
Cntn1	A	T	15: 92,212,444 (GRCm39)	R869*	probably null	Het
Creb3l2	A	T	6: 37,311,283 (GRCm39)		probably benign	Het
Crybg2	G	A	4: 133,802,615 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,276,405 (GRCm39)	F800I	probably damaging	Het
Dock6	G	A	9: 21,752,823 (GRCm39)	T330I	probably damaging	Het
Ets2	G	A	16: 95,517,200 (GRCm39)	E311K	possibly damaging	Het
Fbxo22	A	T	9: 55,122,244 (GRCm39)	Q141L	probably benign	Het
Fer	C	T	17: 64,342,503 (GRCm39)	T223M	probably benign	Het
Gtf3c1	A	T	7: 125,256,649 (GRCm39)		probably benign	Het
Gtf3c2	G	A	5: 31,317,150 (GRCm39)	R684*	probably null	Het
Hs6st3	T	A	14: 120,106,474 (GRCm39)	L294*	probably null	Het
Ighg2c	T	G	12: 113,251,584 (GRCm39)	E181A	unknown	Het
Igkv6-15	A	T	6: 70,383,763 (GRCm39)		probably benign	Het
Irag2	A	T	6: 145,120,354 (GRCm39)	H523L	probably damaging	Het
Map2k6	C	T	11: 110,385,169 (GRCm39)	R178*	probably null	Het
Meikin	T	A	11: 54,281,309 (GRCm39)	D126E	probably benign	Het
Mgst1	A	T	6: 138,133,329 (GRCm39)	T37S	probably damaging	Het
Mrc2	G	A	11: 105,238,518 (GRCm39)	V1222M	probably benign	Het
Myom2	C	A	8: 15,169,216 (GRCm39)		probably benign	Het
Negr1	A	G	3: 156,721,903 (GRCm39)	K159R	possibly damaging	Het
Nptx1	T	C	11: 119,434,127 (GRCm39)	T320A	possibly damaging	Het
Or12j3	A	T	7: 139,953,310 (GRCm39)	V71E	possibly damaging	Het
Or4p21	A	T	2: 88,276,961 (GRCm39)	M107K	probably benign	Het
Or5p66	T	C	7: 107,885,503 (GRCm39)	I277V	probably benign	Het
Pes1	C	T	11: 3,927,794 (GRCm39)		probably benign	Het
Pes1	T	G	11: 3,927,795 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,187,698 (GRCm39)	Y3537N	probably damaging	Het
Poteg	G	A	8: 27,963,615 (GRCm39)	G289R	probably benign	Het
Pramel29	A	G	4: 143,935,910 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,172,693 (GRCm39)	R59G	probably damaging	Het
Reln	A	T	5: 22,223,867 (GRCm39)	W961R	probably damaging	Het
Rhot2	G	A	17: 26,061,002 (GRCm39)	H168Y	possibly damaging	Het
Ripk3	G	T	14: 56,025,848 (GRCm39)		probably benign	Het
Samm50	A	G	15: 84,098,372 (GRCm39)		silent	Het
Sap30bp	T	C	11: 115,848,229 (GRCm39)	I117T	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Sipa1l2	A	T	8: 126,149,363 (GRCm39)	L1632*	probably null	Het
Sirt7	T	C	11: 120,512,955 (GRCm39)		probably benign	Het
Sox9	A	G	11: 112,675,768 (GRCm39)	Y319C	probably damaging	Het
Sspn	G	A	6: 145,906,877 (GRCm39)	A27T	possibly damaging	Het
Suco	A	G	1: 161,666,373 (GRCm39)	V509A	possibly damaging	Het
Svep1	C	T	4: 58,070,661 (GRCm39)	C2375Y	possibly damaging	Het
Trbv21	T	A	6: 41,179,984 (GRCm39)		probably benign	Het
Uimc1	C	T	13: 55,208,079 (GRCm39)	E455K	possibly damaging	Het
Upk3b	A	G	5: 136,068,930 (GRCm39)	T100A	possibly damaging	Het
Usp47	A	G	7: 111,707,862 (GRCm39)	N1303D	probably damaging	Het
Vav1	A	T	17: 57,610,862 (GRCm39)	D476V	probably benign	Het
Vmn1r68	A	G	7: 10,261,162 (GRCm39)	V312A	probably benign	Het
Wdr62	A	G	7: 29,969,599 (GRCm39)	V287A	probably damaging	Het
Zcchc4	C	T	5: 52,940,550 (GRCm39)	P40S	probably benign	Het
Zfp326	T	A	5: 106,034,069 (GRCm39)	Y26*	probably null	Het
Zfp592	A	G	7: 80,687,819 (GRCm39)	H915R	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
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
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'- GGTCTTTCACGGTACAATGGCTCC -3'
(R):5'- ACTCACAGCTTCTGCGTGCTTG -3'

Sequencing Primer
(F):5'- TACAATGGCTCCTAAGCTGG -3'
(R):5'- TCTGCGTGCTTGTCGGG -3'

Posted On

2013-07-11