Mutagenetix > Incidental Mutation

Incidental Mutation 'R8751:Smg7'

663818

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

068594-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R8751 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

152712746-152778397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152719129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 874 (D874G)

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: D874G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772
AA Change: D874G

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

probably benign
Transcript: ENSMUST00000073441

SMART Domains

Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772

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

possibly damaging
Transcript: ENSMUST00000111836
AA Change: D866G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772
AA Change: D866G

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	A	15: 11,215,813 (GRCm39)	I278N	probably damaging	Het
Adcy9	A	G	16: 4,129,492 (GRCm39)	W702R	probably damaging	Het
Adgrf5	G	A	17: 43,748,574 (GRCm39)	V468I	possibly damaging	Het
Ahnak	A	C	19: 8,987,509 (GRCm39)	K2931T	probably damaging	Het
Ank3	C	T	10: 69,761,849 (GRCm39)		probably benign	Het
Birc6	G	A	17: 74,955,135 (GRCm39)	V3480I	probably damaging	Het
Bpifa5	A	T	2: 154,007,432 (GRCm39)	I125L	probably benign	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccm2l	A	T	2: 152,909,695 (GRCm39)	I16F	probably benign	Het
Cep72	G	A	13: 74,198,303 (GRCm39)	S359F	possibly damaging	Het
Col1a1	A	G	11: 94,838,100 (GRCm39)	N844S	unknown	Het
Col7a1	C	T	9: 108,796,730 (GRCm39)	P1623S	possibly damaging	Het
Crybg1	T	C	10: 43,880,838 (GRCm39)	K117E	probably benign	Het
Csmd3	A	G	15: 47,845,402 (GRCm39)	C54R		Het
Dlg1	A	G	16: 31,600,648 (GRCm39)	T211A	probably benign	Het
Emc1	C	A	4: 139,097,279 (GRCm39)	H724N	possibly damaging	Het
Epg5	A	C	18: 78,008,223 (GRCm39)	N784H	probably benign	Het
Epg5	T	A	18: 78,008,225 (GRCm39)	N784K	probably benign	Het
Epg5	A	T	18: 78,008,224 (GRCm39)	N784I	possibly damaging	Het
Erc2	A	G	14: 27,802,145 (GRCm39)	E771G	possibly damaging	Het
Exo1	T	C	1: 175,719,678 (GRCm39)	V241A	probably benign	Het
Fat4	A	G	3: 38,946,002 (GRCm39)	T1632A	probably benign	Het
Fbxo21	T	A	5: 118,140,127 (GRCm39)	M529K	probably damaging	Het
Fhad1	T	C	4: 141,646,134 (GRCm39)	E276G	probably benign	Het
Frem1	G	A	4: 82,889,015 (GRCm39)	T1069I	probably damaging	Het
Gapvd1	A	C	2: 34,568,078 (GRCm39)	F1429V	probably damaging	Het
Gbp9	T	C	5: 105,229,117 (GRCm39)	E510G	possibly damaging	Het
Gm17087	A	T	17: 8,785,510 (GRCm39)	H64Q	probably damaging	Het
Gm19965	A	T	1: 116,749,867 (GRCm39)	Y516F	unknown	Het
Hdac5	A	T	11: 102,109,280 (GRCm39)	I38N	probably benign	Het
Hectd4	T	A	5: 121,501,838 (GRCm39)	C4190*	probably null	Het
Helb	A	T	10: 119,925,412 (GRCm39)	D988E	probably benign	Het
Herc6	C	T	6: 57,639,359 (GRCm39)	S909L	probably damaging	Het
Ice1	A	T	13: 70,751,010 (GRCm39)	V1692E	probably damaging	Het
Ino80	A	G	2: 119,237,389 (GRCm39)	Y1107H	probably benign	Het
Kif9	A	T	9: 110,330,724 (GRCm39)	Y350F	probably benign	Het
Lct	T	A	1: 128,221,534 (GRCm39)	T1570S	probably benign	Het
Lias	T	A	5: 65,557,193 (GRCm39)	N203K	probably benign	Het
Lrrtm4	A	G	6: 79,999,092 (GRCm39)	N168S	probably damaging	Het
Ltf	A	T	9: 110,860,192 (GRCm39)	K538*	probably null	Het
Lysmd4	A	G	7: 66,875,787 (GRCm39)	D150G	probably benign	Het
Magi2	A	G	5: 20,739,462 (GRCm39)	D572G	probably benign	Het
Meiob	T	C	17: 25,047,008 (GRCm39)		probably null	Het
Ncor2	T	C	5: 125,115,964 (GRCm39)	Y130C		Het
Ntmt2	T	A	1: 163,544,738 (GRCm39)	T82S	probably benign	Het
Ofcc1	A	G	13: 40,409,072 (GRCm39)	S118P	probably benign	Het
Or10g3	A	G	14: 52,610,420 (GRCm39)	F30S	probably benign	Het
Or2t45	A	G	11: 58,669,213 (GRCm39)	T87A	probably benign	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Parp14	A	T	16: 35,677,181 (GRCm39)	M929K	probably benign	Het
Pcdh8	T	C	14: 80,006,229 (GRCm39)	E778G	probably benign	Het
Pgls	T	C	8: 72,047,838 (GRCm39)	V211A	probably benign	Het
Pkd2	T	A	5: 104,637,151 (GRCm39)	M588K	probably damaging	Het
Pms1	T	C	1: 53,231,269 (GRCm39)	N860S	probably benign	Het
Psg19	C	T	7: 18,530,888 (GRCm39)	V89M	probably benign	Het
Reln	T	C	5: 22,147,672 (GRCm39)	H2426R	probably benign	Het
Ripor2	T	A	13: 24,885,050 (GRCm39)	N428K	possibly damaging	Het
Slc12a4	C	T	8: 106,676,285 (GRCm39)		probably null	Het
Slc25a3	T	C	10: 90,952,960 (GRCm39)	I314V	probably benign	Het
Slc29a1	C	A	17: 45,900,688 (GRCm39)	V125F	probably benign	Het
Slc9a5	T	A	8: 106,085,981 (GRCm39)	C583S	probably damaging	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Spef2	T	A	15: 9,729,723 (GRCm39)	K132*	probably null	Het
Tap1	A	G	17: 34,412,133 (GRCm39)	K446R	probably benign	Het
Tcam1	A	T	11: 106,176,443 (GRCm39)	T390S	possibly damaging	Het
Tnik	A	G	3: 28,666,057 (GRCm39)	N687D	probably damaging	Het
Trim42	T	C	9: 97,251,852 (GRCm39)	R16G	possibly damaging	Het
Vcp	A	C	4: 42,984,658 (GRCm39)	L411W	probably damaging	Het
Vma21-ps	C	A	4: 52,496,973 (GRCm39)	G91V	probably damaging	Het
Vmn1r23	T	C	6: 57,903,452 (GRCm39)	T109A	probably benign	Het
Vmn2r67	C	T	7: 84,801,450 (GRCm39)	C162Y	probably benign	Het
Vmn2r-ps117	A	G	17: 19,044,021 (GRCm39)	T366A	probably benign	Het
Zfp804a	A	G	2: 82,066,190 (GRCm39)	K54E	probably damaging	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
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
R9732:Smg7	UTSW	1	152,736,212 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGTGTGGTTAGAGCAAG -3'
(R):5'- ACTAGCTGCATTCACGCCTG -3'

Sequencing Primer
(F):5'- GCAAGAAGCAGAATTATGTCAAATAC -3'
(R):5'- GCATTCACGCCTGTGTCCTG -3'

Posted On

2021-03-08