Incidental Mutation 'IGL01751:Smg7'
ID |
153130 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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) |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.924)
|
Stock # |
IGL01751
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
152712746-152778397 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 152719812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 903
(D903G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073144
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043560]
[ENSMUST00000073441]
[ENSMUST00000111836]
|
AlphaFold |
Q5RJH6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043560
AA Change: D865G
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000041241 Gene: ENSMUSG00000042772 AA Change: D865G
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: D903G
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000073144 Gene: ENSMUSG00000042772 AA Change: D903G
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
AA Change: D857G
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000107467 Gene: ENSMUSG00000042772 AA Change: D857G
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188937
|
Coding Region Coverage |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 144,979,981 (GRCm39) |
|
probably null |
Het |
Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
Aoc1l2 |
A |
T |
6: 48,907,522 (GRCm39) |
H174L |
possibly damaging |
Het |
Auts2 |
G |
T |
5: 131,501,198 (GRCm39) |
Q72K |
probably damaging |
Het |
Ccdc7b |
A |
T |
8: 129,863,049 (GRCm39) |
|
probably benign |
Het |
Frem3 |
A |
G |
8: 81,342,372 (GRCm39) |
E1555G |
probably benign |
Het |
Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
Gm5828 |
A |
G |
1: 16,840,208 (GRCm39) |
|
noncoding transcript |
Het |
Gm6605 |
T |
C |
7: 38,147,630 (GRCm39) |
|
noncoding transcript |
Het |
Gvin3 |
T |
A |
7: 106,201,516 (GRCm39) |
N576I |
possibly damaging |
Het |
Hps3 |
T |
C |
3: 20,065,130 (GRCm39) |
D638G |
probably damaging |
Het |
Igdcc4 |
A |
T |
9: 65,039,014 (GRCm39) |
N887I |
probably damaging |
Het |
Itpkc |
G |
A |
7: 26,912,491 (GRCm39) |
|
probably benign |
Het |
Mfge8 |
A |
G |
7: 78,786,403 (GRCm39) |
|
probably null |
Het |
Mrc2 |
G |
T |
11: 105,216,560 (GRCm39) |
L116F |
probably benign |
Het |
Necab1 |
T |
C |
4: 14,978,171 (GRCm39) |
D226G |
probably damaging |
Het |
Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
Olr1 |
T |
C |
6: 129,465,811 (GRCm39) |
N65S |
possibly damaging |
Het |
Or14c39 |
A |
T |
7: 86,343,997 (GRCm39) |
Q111L |
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Or5d43 |
A |
T |
2: 88,104,977 (GRCm39) |
C139S |
possibly damaging |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
Scn3a |
T |
A |
2: 65,291,596 (GRCm39) |
M1717L |
possibly damaging |
Het |
Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
Ttll9 |
A |
T |
2: 152,825,025 (GRCm39) |
N68I |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,567,943 (GRCm39) |
V25904A |
possibly damaging |
Het |
Uaca |
G |
A |
9: 60,777,139 (GRCm39) |
V507M |
probably damaging |
Het |
Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
|
Other mutations in Smg7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R9732:Smg7
|
UTSW |
1 |
152,736,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |