Mutagenetix > Incidental Mutation

Incidental Mutation 'R9732:Smg7'

731440

Institutional Source

Beutler Lab

Gene Symbol

Smg7

Ensembl Gene

ENSMUSG00000042772

Gene Name

SMG7 nonsense mediated mRNA decay factor

Synonyms

9430023P16Rik, Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R9732 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152712746-152778397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152736212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 190 (V190D)

Ref Sequence

ENSEMBL: ENSMUSP00000041241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043560] [ENSMUST00000073441] [ENSMUST00000111836]

AlphaFold

Q5RJH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000043560
AA Change: V190D

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

SMART Domains

Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772
AA Change: V190D

Domain	Start	End	E-Value	Type
Pfam:EST1	63	177	3.4e-30	PFAM
Pfam:EST1_DNA_bind	179	438	3.3e-64	PFAM
low complexity region	457	465	N/A	INTRINSIC
low complexity region	615	633	N/A	INTRINSIC
low complexity region	682	710	N/A	INTRINSIC
low complexity region	711	729	N/A	INTRINSIC
low complexity region	874	898	N/A	INTRINSIC
low complexity region	906	922	N/A	INTRINSIC
low complexity region	931	947	N/A	INTRINSIC
low complexity region	1008	1034	N/A	INTRINSIC
low complexity region	1126	1140	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073441
AA Change: V182D

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772
AA Change: V182D

Domain	Start	End	E-Value	Type
Pfam:EST1	52	172	2.3e-26	PFAM
Pfam:EST1_DNA_bind	171	430	3.6e-66	PFAM
low complexity region	449	457	N/A	INTRINSIC
low complexity region	653	671	N/A	INTRINSIC
low complexity region	720	748	N/A	INTRINSIC
low complexity region	749	767	N/A	INTRINSIC
low complexity region	919	935	N/A	INTRINSIC
low complexity region	996	1022	N/A	INTRINSIC
low complexity region	1114	1128	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111836
AA Change: V182D

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

SMART Domains

Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772
AA Change: V182D

Domain	Start	End	E-Value	Type
Pfam:EST1	52	172	2.3e-26	PFAM
Pfam:EST1_DNA_bind	171	430	3.7e-66	PFAM
low complexity region	449	457	N/A	INTRINSIC
low complexity region	607	625	N/A	INTRINSIC
low complexity region	674	702	N/A	INTRINSIC
low complexity region	703	721	N/A	INTRINSIC
low complexity region	866	890	N/A	INTRINSIC
low complexity region	898	914	N/A	INTRINSIC
low complexity region	923	939	N/A	INTRINSIC
low complexity region	1000	1026	N/A	INTRINSIC
low complexity region	1118	1132	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	T	4: 156,258,446 (GRCm39)	S1007T	probably benign	Het
Akap10	A	T	11: 61,787,545 (GRCm39)	C466S	probably damaging	Het
Apol9b	C	T	15: 77,619,566 (GRCm39)	P121S	possibly damaging	Het
Atr	T	A	9: 95,743,438 (GRCm39)	Y26N	probably damaging	Het
Cadm2	G	A	16: 66,528,297 (GRCm39)	T346I	probably benign	Het
Capn7	T	C	14: 31,090,031 (GRCm39)	I628T	probably damaging	Het
Cfap43	A	G	19: 47,775,446 (GRCm39)	S609P	probably damaging	Het
Chst2	C	T	9: 95,287,951 (GRCm39)	G132S	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Coq10a	A	G	10: 128,199,516 (GRCm39)	F253L	probably benign	Het
Cyp2t4	C	T	7: 26,854,657 (GRCm39)	P46S	probably damaging	Het
Ddx54	T	C	5: 120,763,911 (GRCm39)		probably null	Het
Dip2a	T	A	10: 76,110,077 (GRCm39)	I1180L	probably benign	Het
Dpp8	G	T	9: 64,970,862 (GRCm39)		probably null	Het
Efr3a	T	A	15: 65,720,139 (GRCm39)	N378K	probably benign	Het
Etl4	C	T	2: 20,748,373 (GRCm39)	T237I	probably damaging	Het
Exo1	T	A	1: 175,727,065 (GRCm39)	S459T	probably benign	Het
Fam81b	G	A	13: 76,399,985 (GRCm39)	T91I	probably benign	Het
Fry	A	G	5: 150,328,758 (GRCm39)	E1297G	probably benign	Het
Gm11110	G	A	17: 57,410,382 (GRCm39)	L39F	unknown	Het
Gm3233	G	T	10: 77,595,147 (GRCm39)	Q124K	unknown	Het
Gm7145	C	G	1: 117,913,839 (GRCm39)	H240Q	probably benign	Het
Gnrh1	G	T	14: 67,985,316 (GRCm39)	R67L	possibly damaging	Het
Grip2	T	A	6: 91,761,686 (GRCm39)	E236V	probably damaging	Het
H3c10	A	T	13: 21,902,186 (GRCm39)	I120F	probably benign	Het
Hectd4	G	T	5: 121,392,254 (GRCm39)	E173*	probably null	Het
Hgf	T	A	5: 16,820,748 (GRCm39)	L632I	probably damaging	Het
Igsf11	T	C	16: 38,843,652 (GRCm39)	V255A	probably benign	Het
Jmjd4	G	T	11: 59,341,339 (GRCm39)		probably null	Het
Khdrbs3	C	A	15: 68,885,212 (GRCm39)	N71K	probably damaging	Het
Kif20b	A	G	19: 34,930,353 (GRCm39)	D1286G	probably benign	Het
Lpin3	T	A	2: 160,734,196 (GRCm39)	L27Q	probably damaging	Het
Macroh2a1	G	C	13: 56,243,976 (GRCm39)	F183L	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	T	A	14: 61,033,637 (GRCm39)	F184I	probably damaging	Het
Mst1	A	T	9: 107,959,425 (GRCm39)	D237V	possibly damaging	Het
Mycbp2	T	C	14: 103,448,749 (GRCm39)	D1803G	probably damaging	Het
Ncoa6	T	G	2: 155,244,636 (GRCm39)	K1978T	probably damaging	Het
Nkain4	G	A	2: 180,585,901 (GRCm39)	T54I	probably damaging	Het
Olig3	G	A	10: 19,233,151 (GRCm39)	A259T	probably benign	Het
Or5w14	T	C	2: 87,541,489 (GRCm39)	T254A	possibly damaging	Het
Pacs1	A	G	19: 5,184,997 (GRCm39)	W943R	probably damaging	Het
Pkp4	T	A	2: 59,138,797 (GRCm39)	L349Q	possibly damaging	Het
Polh	A	T	17: 46,498,997 (GRCm39)	H239Q	probably benign	Het
Ptprq	G	C	10: 107,412,767 (GRCm39)	C1777W	probably damaging	Het
Rhod	A	T	19: 4,476,740 (GRCm39)	V127E	probably damaging	Het
Rnf6	A	G	5: 146,152,931 (GRCm39)	S84P	probably benign	Het
Rundc3b	T	C	5: 8,562,406 (GRCm39)	T321A	probably damaging	Het
Rxfp2	G	A	5: 149,993,767 (GRCm39)	A620T	probably damaging	Het
Sacm1l	A	G	9: 123,381,863 (GRCm39)	E155G	probably benign	Het
Saxo5	C	T	8: 3,526,167 (GRCm39)	H107Y	possibly damaging	Het
Sdad1	A	T	5: 92,438,942 (GRCm39)	D471E	probably benign	Het
Sema6a	T	A	18: 47,381,925 (GRCm39)	N874I	probably damaging	Het
Serinc4	C	A	2: 121,283,631 (GRCm39)	W283L	possibly damaging	Het
Simc1	GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	13: 54,673,177 (GRCm39)		probably benign	Het
Slc24a3	A	T	2: 145,458,591 (GRCm39)	S524C	probably damaging	Het
Slc4a10	T	G	2: 62,135,086 (GRCm39)	S1042R	probably damaging	Het
Sub1	T	A	15: 11,986,650 (GRCm39)	I66F	possibly damaging	Het
Svop	G	A	5: 114,201,142 (GRCm39)	P109S	probably damaging	Het
Synj1	G	A	16: 90,761,414 (GRCm39)	P684L	probably damaging	Het
Synm	A	G	7: 67,385,652 (GRCm39)	V670A	probably damaging	Het
Tep1	T	C	14: 51,088,162 (GRCm39)	I792V	probably benign	Het
Tex22	A	G	12: 113,052,196 (GRCm39)	T85A	possibly damaging	Het
Tmem151a	C	T	19: 5,131,937 (GRCm39)	S423N	probably damaging	Het
Tnks1bp1	T	A	2: 84,889,727 (GRCm39)	W685R	probably damaging	Het
Top3a	A	G	11: 60,640,391 (GRCm39)	F436L	probably benign	Het
Trim55	A	T	3: 19,716,039 (GRCm39)	I200F	probably damaging	Het
Trpv6	T	A	6: 41,603,862 (GRCm39)	R186*	probably null	Het
Ttc6	G	A	12: 57,775,335 (GRCm39)	C1677Y	probably benign	Het
Ttn	C	T	2: 76,769,206 (GRCm39)	V2831I	unknown	Het
Tyrp1	T	A	4: 80,758,930 (GRCm39)	S268T	possibly damaging	Het
Unc5d	C	T	8: 29,381,319 (GRCm39)		probably null	Het
Usb1	G	T	8: 96,065,375 (GRCm39)	V129L	probably damaging	Het
Usp22	G	A	11: 61,051,437 (GRCm39)	T302M	probably damaging	Het
Vmn1r210	C	A	13: 23,011,379 (GRCm39)	L302F	possibly damaging	Het
Zfp689	C	A	7: 127,044,283 (GRCm39)	E116*	probably null	Het

Other mutations in Smg7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01751:Smg7	APN	1	152,719,812 (GRCm39)	missense	possibly damaging	0.68
IGL02320:Smg7	APN	1	152,744,088 (GRCm39)	missense	possibly damaging	0.49
IGL02336:Smg7	APN	1	152,719,030 (GRCm39)	missense	probably benign
IGL02680:Smg7	APN	1	152,721,145 (GRCm39)	missense	probably benign	0.15
IGL03232:Smg7	APN	1	152,715,907 (GRCm39)	missense	probably damaging	1.00
chill	UTSW	1	152,715,887 (GRCm39)	splice site	probably null
R0322:Smg7	UTSW	1	152,725,624 (GRCm39)	critical splice donor site	probably null
R0540:Smg7	UTSW	1	152,731,713 (GRCm39)	missense	probably benign	0.00
R0685:Smg7	UTSW	1	152,742,399 (GRCm39)	missense	probably damaging	1.00
R0707:Smg7	UTSW	1	152,746,508 (GRCm39)	splice site	probably null
R1109:Smg7	UTSW	1	152,721,334 (GRCm39)	missense	probably damaging	1.00
R1118:Smg7	UTSW	1	152,742,326 (GRCm39)	splice site	probably benign
R1119:Smg7	UTSW	1	152,742,326 (GRCm39)	splice site	probably benign
R1458:Smg7	UTSW	1	152,731,594 (GRCm39)	splice site	probably null
R1759:Smg7	UTSW	1	152,724,597 (GRCm39)	missense	probably benign	0.20
R1846:Smg7	UTSW	1	152,724,601 (GRCm39)	missense	probably damaging	1.00
R2015:Smg7	UTSW	1	152,736,259 (GRCm39)	missense	probably damaging	1.00
R2155:Smg7	UTSW	1	152,716,064 (GRCm39)	missense	possibly damaging	0.49
R2199:Smg7	UTSW	1	152,730,079 (GRCm39)	missense	probably damaging	1.00
R2234:Smg7	UTSW	1	152,744,064 (GRCm39)	missense	probably damaging	1.00
R2235:Smg7	UTSW	1	152,744,064 (GRCm39)	missense	probably damaging	1.00
R3861:Smg7	UTSW	1	152,728,349 (GRCm39)	missense	probably null	1.00
R4597:Smg7	UTSW	1	152,716,052 (GRCm39)	critical splice donor site	probably null
R4672:Smg7	UTSW	1	152,721,164 (GRCm39)	missense	probably damaging	1.00
R4851:Smg7	UTSW	1	152,720,020 (GRCm39)	missense	probably benign	0.00
R5486:Smg7	UTSW	1	152,721,927 (GRCm39)	missense	probably damaging	0.97
R5607:Smg7	UTSW	1	152,718,985 (GRCm39)	missense	probably damaging	0.98
R6131:Smg7	UTSW	1	152,720,962 (GRCm39)	critical splice donor site	probably null
R6396:Smg7	UTSW	1	152,724,351 (GRCm39)	missense	probably benign	0.33
R6401:Smg7	UTSW	1	152,715,887 (GRCm39)	splice site	probably null
R6905:Smg7	UTSW	1	152,725,757 (GRCm39)	splice site	probably null
R6961:Smg7	UTSW	1	152,717,334 (GRCm39)	nonsense	probably null
R7051:Smg7	UTSW	1	152,724,601 (GRCm39)	missense	probably damaging	1.00
R7124:Smg7	UTSW	1	152,753,831 (GRCm39)	missense	probably benign	0.01
R7146:Smg7	UTSW	1	152,737,576 (GRCm39)	missense	probably benign	0.34
R7573:Smg7	UTSW	1	152,735,240 (GRCm39)	missense	probably damaging	1.00
R7578:Smg7	UTSW	1	152,721,181 (GRCm39)	missense	probably damaging	1.00
R7621:Smg7	UTSW	1	152,717,295 (GRCm39)	missense	possibly damaging	0.95
R7956:Smg7	UTSW	1	152,719,953 (GRCm39)	missense	probably benign	0.02
R8167:Smg7	UTSW	1	152,720,123 (GRCm39)	missense	possibly damaging	0.90
R8751:Smg7	UTSW	1	152,719,129 (GRCm39)	missense	probably damaging	0.99
R8905:Smg7	UTSW	1	152,715,817 (GRCm39)	missense	probably damaging	1.00
R9082:Smg7	UTSW	1	152,715,928 (GRCm39)	missense	probably damaging	0.96
R9229:Smg7	UTSW	1	152,720,971 (GRCm39)	missense	possibly damaging	0.72
R9260:Smg7	UTSW	1	152,737,549 (GRCm39)	missense	probably damaging	1.00
R9262:Smg7	UTSW	1	152,721,262 (GRCm39)	missense	probably damaging	1.00
R9323:Smg7	UTSW	1	152,731,753 (GRCm39)	missense	probably benign	0.01
R9519:Smg7	UTSW	1	152,735,196 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTATGTAGGCCAATTATGAATGCTAGG -3'
(R):5'- GCCGGACACGTCACATAATC -3'

Sequencing Primer
(F):5'- GGTTTGGAGAAAAACTTTAGACCAC -3'
(R):5'- CGGACACGTCACATAATCCTATAG -3'

Posted On

2022-11-14