Incidental Mutation 'R1118:Smg7'
ID |
97491 |
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 |
039191-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.923)
|
Stock # |
R1118 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
152712746-152778397 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 152742326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043560]
[ENSMUST00000073441]
[ENSMUST00000111836]
|
AlphaFold |
Q5RJH6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043560
|
SMART Domains |
Protein: ENSMUSP00000041241 Gene: ENSMUSG00000042772
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 |
probably benign
Transcript: ENSMUST00000111836
|
SMART Domains |
Protein: ENSMUSP00000107467 Gene: ENSMUSG00000042772
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 |
noncoding transcript
Transcript: ENSMUST00000186692
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.3%
|
Validation Efficiency |
98% (60/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apcdd1 |
A |
G |
18: 63,085,095 (GRCm39) |
T431A |
probably benign |
Het |
Bcan |
T |
A |
3: 87,896,534 (GRCm39) |
I721F |
probably damaging |
Het |
Card10 |
T |
C |
15: 78,686,643 (GRCm39) |
D58G |
possibly damaging |
Het |
Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,916,248 (GRCm39) |
D575G |
probably damaging |
Het |
Ces1f |
A |
G |
8: 93,993,870 (GRCm39) |
|
probably benign |
Het |
Cped1 |
A |
T |
6: 22,237,698 (GRCm39) |
H938L |
probably benign |
Het |
Creld1 |
A |
G |
6: 113,468,656 (GRCm39) |
D259G |
probably benign |
Het |
Cubn |
T |
C |
2: 13,341,053 (GRCm39) |
I2223V |
possibly damaging |
Het |
Dop1a |
A |
G |
9: 86,397,459 (GRCm39) |
D921G |
probably damaging |
Het |
Dusp7 |
T |
C |
9: 106,250,849 (GRCm39) |
S325P |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 39,037,091 (GRCm39) |
D3581V |
possibly damaging |
Het |
Fhl3 |
T |
C |
4: 124,599,584 (GRCm39) |
|
probably null |
Het |
Gap43 |
T |
C |
16: 42,112,167 (GRCm39) |
E198G |
probably benign |
Het |
Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
Grina |
T |
C |
15: 76,132,779 (GRCm39) |
F182S |
probably damaging |
Het |
Gsk3b |
T |
C |
16: 38,028,346 (GRCm39) |
|
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Haus6 |
A |
G |
4: 86,503,563 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
Itih4 |
C |
A |
14: 30,618,124 (GRCm39) |
|
probably benign |
Het |
Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
Kif22 |
A |
G |
7: 126,631,916 (GRCm39) |
S384P |
probably benign |
Het |
Lbr |
A |
C |
1: 181,648,233 (GRCm39) |
|
probably benign |
Het |
Mei1 |
G |
A |
15: 82,000,068 (GRCm39) |
|
probably benign |
Het |
Misp |
T |
C |
10: 79,662,969 (GRCm39) |
V462A |
probably benign |
Het |
Mrgpra3 |
A |
C |
7: 47,239,039 (GRCm39) |
L296V |
possibly damaging |
Het |
Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
Or4f14 |
T |
A |
2: 111,743,222 (GRCm39) |
T18S |
probably benign |
Het |
Otud4 |
C |
T |
8: 80,379,980 (GRCm39) |
|
probably benign |
Het |
P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
Pcdhb15 |
T |
A |
18: 37,606,815 (GRCm39) |
F16I |
probably benign |
Het |
Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
Pdxdc1 |
T |
A |
16: 13,697,278 (GRCm39) |
|
probably benign |
Het |
Pgc |
T |
A |
17: 48,039,828 (GRCm39) |
|
probably null |
Het |
Phf11a |
T |
C |
14: 59,521,778 (GRCm39) |
D131G |
probably benign |
Het |
Prdm2 |
G |
A |
4: 142,858,953 (GRCm39) |
H1446Y |
possibly damaging |
Het |
Rad54b |
T |
C |
4: 11,563,352 (GRCm39) |
S4P |
probably damaging |
Het |
Slc52a2 |
T |
C |
15: 76,423,808 (GRCm39) |
|
probably benign |
Het |
Slc9a4 |
G |
A |
1: 40,623,490 (GRCm39) |
|
probably benign |
Het |
Smad4 |
T |
C |
18: 73,773,333 (GRCm39) |
D551G |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,436,352 (GRCm39) |
Y1234C |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,721,582 (GRCm39) |
|
probably null |
Het |
Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
Stmn4 |
T |
G |
14: 66,591,844 (GRCm39) |
|
probably benign |
Het |
Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
Tex14 |
A |
T |
11: 87,413,343 (GRCm39) |
R1031S |
probably benign |
Het |
Tia1 |
G |
A |
6: 86,396,091 (GRCm39) |
V96I |
probably benign |
Het |
Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
G |
2: 126,664,406 (GRCm39) |
M991T |
possibly damaging |
Het |
Ttc3 |
T |
A |
16: 94,217,127 (GRCm39) |
|
probably benign |
Het |
Vcan |
G |
A |
13: 89,853,782 (GRCm39) |
P393S |
probably damaging |
Het |
Vmn2r107 |
G |
A |
17: 20,576,860 (GRCm39) |
R286Q |
probably benign |
Het |
Wdr87-ps |
G |
A |
7: 29,233,669 (GRCm39) |
|
noncoding transcript |
Het |
Wrap73 |
A |
T |
4: 154,236,884 (GRCm39) |
|
probably null |
Het |
Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
possibly 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 |
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 |
R9732:Smg7
|
UTSW |
1 |
152,736,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATGCGGTCTGATCACATGTTTCC -3'
(R):5'- AGTGTCTGCCCAGTGAGTCACTAC -3'
Sequencing Primer
(F):5'- TAAACCTCCATCCTACGCATGTATC -3'
(R):5'- TGCCCAGTGAGTCACTACTATAC -3'
|
Posted On |
2014-01-05 |