Mutagenetix > Incidental Mutation

Incidental Mutation 'R9345:Smg5'

707721

Institutional Source

Beutler Lab

Gene Symbol

Smg5

Ensembl Gene

ENSMUSG00000001415

Gene Name

SMG5 nonsense mediated mRNA decay factor

Synonyms

Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9345 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88243567-88269645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88261848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 707 (L707Q)

Ref Sequence

ENSEMBL: ENSMUSP00000001451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001451]

AlphaFold

Q6ZPY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000001451
AA Change: L707Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: L707Q

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
Pfam:EST1	77	189	1.1e-26	PFAM
Pfam:EST1_DNA_bind	197	427	4.6e-53	PFAM
low complexity region	447	468	N/A	INTRINSIC
low complexity region	481	501	N/A	INTRINSIC
Pfam:EST1_DNA_bind	611	745	3.7e-9	PFAM
coiled coil region	801	842	N/A	INTRINSIC
PINc	856	979	3.23e-15	SMART
low complexity region	990	999	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192009

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,807,869 (GRCm39)	I837F	probably damaging	Het
Acot3	A	G	12: 84,103,866 (GRCm39)	Y225C	probably benign	Het
Adam17	A	G	12: 21,378,056 (GRCm39)	V710A	probably damaging	Het
Ank3	A	G	10: 69,761,899 (GRCm39)		probably benign	Het
Ankrd60	T	A	2: 173,410,610 (GRCm39)	K303N	possibly damaging	Het
Atp10b	T	A	11: 43,094,024 (GRCm39)	S523T	probably damaging	Het
Bptf	A	G	11: 106,971,588 (GRCm39)	V973A	possibly damaging	Het
Ccdc24	C	T	4: 117,729,691 (GRCm39)	W9*	probably null	Het
Ccdc82	A	G	9: 13,281,891 (GRCm39)	T439A	probably benign	Het
Ccne2	C	A	4: 11,199,420 (GRCm39)	Q274K	probably benign	Het
Clec11a	T	C	7: 43,956,189 (GRCm39)	M1V	probably null	Het
Col12a1	T	A	9: 79,541,017 (GRCm39)	Y2370F	probably benign	Het
Cyp4a32	C	T	4: 115,467,699 (GRCm39)	H228Y	probably benign	Het
Dchs2	G	A	3: 83,036,101 (GRCm39)	G283S	probably benign	Het
Dis3	T	C	14: 99,318,814 (GRCm39)	T659A	probably damaging	Het
Dock5	T	C	14: 68,060,071 (GRCm39)	D456G	possibly damaging	Het
Efr3b	T	A	12: 4,033,409 (GRCm39)	K249*	probably null	Het
Emilin2	C	T	17: 71,581,539 (GRCm39)	V396I	probably benign	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fasn	A	T	11: 120,706,735 (GRCm39)	S947T	probably benign	Het
Fryl	C	T	5: 73,207,754 (GRCm39)	C2472Y	probably benign	Het
Gm3159	A	T	14: 4,398,488 (GRCm38)	I60L	probably benign	Het
Gm3402	A	T	5: 146,451,330 (GRCm39)	N63Y	probably damaging	Het
Gm49355	C	T	14: 12,296,641 (GRCm38)		probably benign	Het
Grm2	A	G	9: 106,528,287 (GRCm39)	L199P	probably damaging	Het
Hck	T	A	2: 152,992,904 (GRCm39)	H470Q	probably benign	Het
Hsd17b4	T	C	18: 50,299,981 (GRCm39)	Y413H	probably benign	Het
Ice1	A	G	13: 70,740,758 (GRCm39)	F80L		Het
Ifrd1	G	A	12: 40,267,458 (GRCm39)	P38S	possibly damaging	Het
Itgad	A	G	7: 127,788,479 (GRCm39)	T431A	probably benign	Het
Kcnd3	A	T	3: 105,566,003 (GRCm39)	I395F	probably damaging	Het
Kif20a	A	G	18: 34,759,779 (GRCm39)	E58G	probably benign	Het
Kras	A	T	6: 145,192,442 (GRCm39)	D30E	probably benign	Het
Lmbrd1	C	T	1: 24,724,593 (GRCm39)	A59V	probably damaging	Het
Lrrc20	T	C	10: 61,383,890 (GRCm39)	L99P	probably damaging	Het
Mfn2	T	C	4: 147,966,649 (GRCm39)	D514G	probably benign	Het
Myl2	A	G	5: 122,242,902 (GRCm39)	E96G	probably damaging	Het
Nppb	T	G	4: 148,070,518 (GRCm39)	L29R	probably damaging	Het
Or51f1e	C	T	7: 102,747,713 (GRCm39)	A255V	possibly damaging	Het
Or5ak22	A	G	2: 85,230,097 (GRCm39)	V260A	probably benign	Het
Pcdhb14	A	G	18: 37,581,281 (GRCm39)	H129R	probably damaging	Het
Pex11g	T	C	8: 3,509,363 (GRCm39)	N188S	possibly damaging	Het
Pla2g3	A	G	11: 3,442,170 (GRCm39)	D410G	probably benign	Het
Pnma1	C	A	12: 84,194,232 (GRCm39)	W157L	probably benign	Het
Pofut2	A	G	10: 77,103,090 (GRCm39)	Y362C	probably damaging	Het
Ppp1r14c	C	A	10: 3,373,567 (GRCm39)	S126*	probably null	Het
Psg27	T	C	7: 18,299,081 (GRCm39)	H80R	probably benign	Het
Rere	T	A	4: 150,554,770 (GRCm39)	V156D	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Samd8	G	A	14: 21,830,227 (GRCm39)	V281I	probably benign	Het
Scarf1	A	G	11: 75,404,401 (GRCm39)		probably benign	Het
Scgb2b27	A	G	7: 33,712,722 (GRCm39)	L40P	probably benign	Het
Sdk1	A	T	5: 142,147,708 (GRCm39)	H1780L	probably benign	Het
Slc10a6	T	C	5: 103,754,521 (GRCm39)	T337A	probably benign	Het
Slc44a4	A	T	17: 35,140,219 (GRCm39)	D208V	probably benign	Het
Slco1c1	G	T	6: 141,493,553 (GRCm39)	C363F	probably benign	Het
Supt5	A	T	7: 28,016,412 (GRCm39)	D789E	probably benign	Het
Tbcd	A	G	11: 121,464,648 (GRCm39)	Y561C	probably damaging	Het
Tectb	T	C	19: 55,183,097 (GRCm39)	L316P	probably benign	Het
Thrsp	T	C	7: 97,066,326 (GRCm39)	T129A	possibly damaging	Het
Tnpo3	T	C	6: 29,558,851 (GRCm39)	H693R	probably benign	Het
Trim54	T	G	5: 31,294,478 (GRCm39)	D335E	probably benign	Het
Tsr1	A	G	11: 74,790,126 (GRCm39)	D107G	probably benign	Het
Ttc41	A	T	10: 86,595,089 (GRCm39)	E954D	probably damaging	Het
Ttn	A	G	2: 76,538,595 (GRCm39)	L34701P	possibly damaging	Het
Vmn1r119	A	C	7: 20,746,034 (GRCm39)	V116G	probably damaging	Het
Vmn1r219	G	A	13: 23,346,769 (GRCm39)		probably benign	Het
Zc3h12c	T	A	9: 52,028,010 (GRCm39)	M470L	probably benign	Het
Zmynd8	T	C	2: 165,654,668 (GRCm39)	K615E	possibly damaging	Het

Other mutations in Smg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Smg5	APN	3	88,258,735 (GRCm39)	nonsense	probably null
IGL00902:Smg5	APN	3	88,260,392 (GRCm39)	missense	probably benign	0.00
IGL00990:Smg5	APN	3	88,250,345 (GRCm39)	critical splice donor site	probably null
IGL01371:Smg5	APN	3	88,266,951 (GRCm39)	unclassified	probably benign
IGL01536:Smg5	APN	3	88,256,552 (GRCm39)	missense	possibly damaging	0.58
IGL02215:Smg5	APN	3	88,260,305 (GRCm39)	missense	possibly damaging	0.47
IGL03366:Smg5	APN	3	88,253,759 (GRCm39)	nonsense	probably null
R0013:Smg5	UTSW	3	88,256,540 (GRCm39)	missense	probably benign	0.00
R0017:Smg5	UTSW	3	88,258,412 (GRCm39)	missense	probably damaging	1.00
R0017:Smg5	UTSW	3	88,258,412 (GRCm39)	missense	probably damaging	1.00
R0129:Smg5	UTSW	3	88,256,540 (GRCm39)	missense	probably benign	0.00
R0153:Smg5	UTSW	3	88,261,179 (GRCm39)	unclassified	probably benign
R1386:Smg5	UTSW	3	88,262,978 (GRCm39)	missense	probably damaging	1.00
R1941:Smg5	UTSW	3	88,252,687 (GRCm39)	missense	possibly damaging	0.71
R2185:Smg5	UTSW	3	88,258,868 (GRCm39)	missense	probably benign
R2282:Smg5	UTSW	3	88,252,705 (GRCm39)	missense	probably benign	0.02
R3615:Smg5	UTSW	3	88,243,758 (GRCm39)	missense	possibly damaging	0.94
R3616:Smg5	UTSW	3	88,243,758 (GRCm39)	missense	possibly damaging	0.94
R4008:Smg5	UTSW	3	88,256,465 (GRCm39)	missense	probably benign	0.01
R4687:Smg5	UTSW	3	88,249,776 (GRCm39)	missense	possibly damaging	0.83
R4726:Smg5	UTSW	3	88,243,758 (GRCm39)	missense	possibly damaging	0.94
R4801:Smg5	UTSW	3	88,262,999 (GRCm39)	nonsense	probably null
R4802:Smg5	UTSW	3	88,262,999 (GRCm39)	nonsense	probably null
R4977:Smg5	UTSW	3	88,263,032 (GRCm39)	nonsense	probably null
R5384:Smg5	UTSW	3	88,258,600 (GRCm39)	missense	probably damaging	1.00
R5443:Smg5	UTSW	3	88,261,896 (GRCm39)	missense	probably damaging	0.99
R5779:Smg5	UTSW	3	88,258,925 (GRCm39)	unclassified	probably benign
R5860:Smg5	UTSW	3	88,250,214 (GRCm39)	missense	probably damaging	0.97
R6080:Smg5	UTSW	3	88,258,816 (GRCm39)	missense	probably benign
R6263:Smg5	UTSW	3	88,249,208 (GRCm39)	missense	possibly damaging	0.90
R6431:Smg5	UTSW	3	88,258,527 (GRCm39)	missense	probably benign	0.00
R6722:Smg5	UTSW	3	88,260,332 (GRCm39)	missense	probably damaging	0.99
R6847:Smg5	UTSW	3	88,249,859 (GRCm39)	missense	probably damaging	1.00
R6950:Smg5	UTSW	3	88,256,576 (GRCm39)	critical splice donor site	probably null
R7091:Smg5	UTSW	3	88,258,654 (GRCm39)	missense	probably benign	0.00
R7395:Smg5	UTSW	3	88,268,378 (GRCm39)	missense	probably damaging	0.99
R7678:Smg5	UTSW	3	88,261,202 (GRCm39)	missense	possibly damaging	0.93
R7796:Smg5	UTSW	3	88,256,739 (GRCm39)	missense	probably damaging	0.96
R8209:Smg5	UTSW	3	88,258,838 (GRCm39)	missense	probably benign	0.00
R8327:Smg5	UTSW	3	88,252,714 (GRCm39)	missense	probably damaging	1.00
R8987:Smg5	UTSW	3	88,267,714 (GRCm39)	critical splice donor site	probably null
R9534:Smg5	UTSW	3	88,252,759 (GRCm39)	missense	probably benign	0.13
R9602:Smg5	UTSW	3	88,250,214 (GRCm39)	missense	probably damaging	1.00
Z1177:Smg5	UTSW	3	88,260,297 (GRCm39)	missense	probably benign	0.33
Z1177:Smg5	UTSW	3	88,258,441 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGTCATCAAGGGTCCTCC -3'
(R):5'- TGAAGCAAGTCTCTTACCTCC -3'

Sequencing Primer
(F):5'- CAGGCTGGCTGTCCTTG -3'
(R):5'- AGCAAGTCTCTTACCTCCTCTAAAG -3'

Posted On

2022-04-18