Incidental Mutation 'R6961:Smg7'
ID |
541739 |
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 |
045071-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.923)
|
Stock # |
R6961 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
152712746-152778397 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 152717334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 919
(L919*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027754]
[ENSMUST00000043560]
[ENSMUST00000073441]
[ENSMUST00000111836]
[ENSMUST00000186568]
|
AlphaFold |
Q5RJH6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027754
|
SMART Domains |
Protein: ENSMUSP00000027754 Gene: ENSMUSG00000026480
Domain | Start | End | E-Value | Type |
TPR
|
37 |
70 |
1.42e0 |
SMART |
TPR
|
71 |
104 |
3.58e-6 |
SMART |
TPR
|
121 |
154 |
1.05e1 |
SMART |
SH3
|
243 |
298 |
1.02e-13 |
SMART |
low complexity region
|
312 |
326 |
N/A |
INTRINSIC |
PB1
|
350 |
428 |
2.6e-10 |
SMART |
SH3
|
459 |
514 |
8.36e-19 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000043560
AA Change: L927*
|
SMART Domains |
Protein: ENSMUSP00000041241 Gene: ENSMUSG00000042772 AA Change: L927*
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 null
Transcript: ENSMUST00000073441
AA Change: L915*
|
SMART Domains |
Protein: ENSMUSP00000073144 Gene: ENSMUSG00000042772 AA Change: L915*
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 null
Transcript: ENSMUST00000111836
AA Change: L919*
|
SMART Domains |
Protein: ENSMUSP00000107467 Gene: ENSMUSG00000042772 AA Change: L919*
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186568
|
SMART Domains |
Protein: ENSMUSP00000140404 Gene: ENSMUSG00000026480
Domain | Start | End | E-Value | Type |
TPR
|
37 |
70 |
1.42e0 |
SMART |
TPR
|
71 |
104 |
3.58e-6 |
SMART |
TPR
|
121 |
154 |
1.05e1 |
SMART |
SH3
|
243 |
298 |
1.02e-13 |
SMART |
low complexity region
|
312 |
326 |
N/A |
INTRINSIC |
PB1
|
350 |
428 |
2.6e-10 |
SMART |
SH3
|
459 |
514 |
8.36e-19 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
G |
5: 77,024,148 (GRCm39) |
L168P |
probably damaging |
Het |
Atp6v0d1 |
A |
G |
8: 106,255,849 (GRCm39) |
L173P |
probably damaging |
Het |
Baiap2l2 |
A |
G |
15: 79,168,835 (GRCm39) |
F23L |
probably damaging |
Het |
Cd200l1 |
T |
A |
16: 45,264,366 (GRCm39) |
Y64F |
probably benign |
Het |
Cdh23 |
G |
C |
10: 60,485,893 (GRCm39) |
L41V |
probably benign |
Het |
Cep120 |
C |
A |
18: 53,836,277 (GRCm39) |
E803* |
probably null |
Het |
Clcn7 |
C |
T |
17: 25,376,188 (GRCm39) |
P560S |
probably damaging |
Het |
Cldn12 |
A |
T |
5: 5,557,707 (GRCm39) |
V240D |
probably damaging |
Het |
Clec1a |
C |
T |
6: 129,406,946 (GRCm39) |
E190K |
probably benign |
Het |
Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
Crispld1 |
T |
A |
1: 17,832,365 (GRCm39) |
H450Q |
probably damaging |
Het |
Dsc2 |
A |
T |
18: 20,171,279 (GRCm39) |
N573K |
probably damaging |
Het |
Fam186a |
T |
A |
15: 99,838,082 (GRCm39) |
I2721F |
probably benign |
Het |
Fbxl13 |
A |
G |
5: 21,748,740 (GRCm39) |
F393S |
probably damaging |
Het |
Fut1 |
A |
T |
7: 45,268,963 (GRCm39) |
I306F |
probably damaging |
Het |
Gas2l3 |
T |
C |
10: 89,249,153 (GRCm39) |
D655G |
probably benign |
Het |
Gm29106 |
A |
T |
1: 118,128,128 (GRCm39) |
K607* |
probably null |
Het |
Gm57858 |
T |
A |
3: 36,104,766 (GRCm39) |
I32F |
possibly damaging |
Het |
Hmg20a |
T |
C |
9: 56,396,012 (GRCm39) |
V268A |
probably benign |
Het |
Il2rb |
T |
A |
15: 78,370,024 (GRCm39) |
Y205F |
probably damaging |
Het |
Ints4 |
A |
G |
7: 97,190,397 (GRCm39) |
*965W |
probably null |
Het |
Itsn2 |
T |
A |
12: 4,723,420 (GRCm39) |
C1118* |
probably null |
Het |
Jakmip1 |
T |
C |
5: 37,330,697 (GRCm39) |
L459P |
probably damaging |
Het |
Klhl8 |
T |
C |
5: 104,018,435 (GRCm39) |
T323A |
possibly damaging |
Het |
Mindy3 |
C |
A |
2: 12,400,989 (GRCm39) |
|
probably null |
Het |
Myo3a |
A |
G |
2: 22,250,369 (GRCm39) |
T79A |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Napa |
C |
T |
7: 15,843,034 (GRCm39) |
R53* |
probably null |
Het |
Nudt21 |
A |
C |
8: 94,755,508 (GRCm39) |
D133E |
probably benign |
Het |
Or2y3 |
T |
A |
17: 38,393,096 (GRCm39) |
I258F |
probably damaging |
Het |
Or4c115 |
T |
A |
2: 88,928,149 (GRCm39) |
M41L |
probably benign |
Het |
Or52b1 |
A |
T |
7: 104,978,913 (GRCm39) |
I162K |
probably damaging |
Het |
Or52s19 |
A |
G |
7: 103,007,789 (GRCm39) |
V204A |
possibly damaging |
Het |
Or56a41 |
A |
T |
7: 104,741,978 (GRCm39) |
M16K |
probably benign |
Het |
Or6c7 |
T |
C |
10: 129,323,331 (GRCm39) |
F151L |
probably damaging |
Het |
Pate13 |
G |
A |
9: 35,819,740 (GRCm39) |
M1I |
probably null |
Het |
Pira13 |
T |
C |
7: 3,828,124 (GRCm39) |
Y61C |
probably damaging |
Het |
Pla2g4e |
G |
T |
2: 120,004,851 (GRCm39) |
|
probably null |
Het |
Ptbp1 |
T |
C |
10: 79,695,111 (GRCm39) |
|
probably null |
Het |
Scfd2 |
A |
C |
5: 74,680,202 (GRCm39) |
V317G |
possibly damaging |
Het |
Slc45a1 |
T |
C |
4: 150,714,110 (GRCm39) |
M712V |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,440,811 (GRCm39) |
S1758T |
probably benign |
Het |
Tgfb2 |
A |
T |
1: 186,382,032 (GRCm39) |
M165K |
possibly damaging |
Het |
Tie1 |
C |
T |
4: 118,343,402 (GRCm39) |
V154M |
probably damaging |
Het |
Timm17a |
A |
G |
1: 135,238,816 (GRCm39) |
|
probably benign |
Het |
Tlr5 |
C |
T |
1: 182,801,076 (GRCm39) |
R127* |
probably null |
Het |
Ttc29 |
A |
C |
8: 79,003,545 (GRCm39) |
I254L |
possibly damaging |
Het |
Unc79 |
T |
C |
12: 103,079,174 (GRCm39) |
S1780P |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,488,646 (GRCm39) |
Y584* |
probably null |
Het |
Zbtb24 |
A |
G |
10: 41,331,171 (GRCm39) |
E366G |
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 |
|
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 |
R9732:Smg7
|
UTSW |
1 |
152,736,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGCTCTAAGAAATTGAGTATCG -3'
(R):5'- AAGAAGGTCTGATTCACCTGTG -3'
Sequencing Primer
(F):5'- GCTCTAAGAAATTGAGTATCGATGAG -3'
(R):5'- ATTCACCTGTGACAAGTGGC -3'
|
Posted On |
2018-11-28 |