Incidental Mutation 'R5486:Smg7'
| ID |
430350 |
| 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 |
043047-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.923)
|
| Stock # |
R5486 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
152712746-152778397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152721927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 595
(S595P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043560]
[ENSMUST00000073441]
[ENSMUST00000111836]
|
| AlphaFold |
Q5RJH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043560
AA Change: S603P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772
AA Change: S603P
| 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 damaging
Transcript: ENSMUST00000073441
AA Change: S641P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772
AA Change: S641P
| 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: S595P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772
AA Change: S595P
| 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 |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.4%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,910,791 (GRCm39) |
M1K |
probably null |
Het |
| Adam12 |
C |
A |
7: 133,509,401 (GRCm39) |
R786S |
possibly damaging |
Het |
| Add3 |
G |
A |
19: 53,232,818 (GRCm39) |
V604I |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,427,425 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
C |
2: 110,576,215 (GRCm39) |
D102G |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,964,524 (GRCm39) |
D2693E |
possibly damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,711,884 (GRCm39) |
N284D |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,326,740 (GRCm39) |
|
probably null |
Het |
| Cln5 |
T |
C |
14: 103,313,630 (GRCm39) |
I294T |
probably damaging |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,779 (GRCm39) |
W43R |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
A |
T |
11: 30,885,047 (GRCm39) |
H413Q |
probably damaging |
Het |
| Fam168a |
T |
A |
7: 100,483,376 (GRCm39) |
M203K |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,144,507 (GRCm39) |
S4122R |
probably benign |
Het |
| Fgd4 |
A |
T |
16: 16,292,901 (GRCm39) |
L272Q |
probably damaging |
Het |
| Hpcal4 |
A |
G |
4: 123,084,557 (GRCm39) |
K162R |
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,863,049 (GRCm39) |
|
probably null |
Het |
| Lbr |
A |
G |
1: 181,646,403 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,267,809 (GRCm39) |
I4259V |
probably benign |
Het |
| Mcm3 |
C |
T |
1: 20,885,118 (GRCm39) |
G189S |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,206,860 (GRCm38) |
V137A |
possibly damaging |
Het |
| Or52d1 |
C |
A |
7: 103,755,705 (GRCm39) |
T73N |
probably damaging |
Het |
| Or52n3 |
T |
A |
7: 104,530,168 (GRCm39) |
C85S |
probably benign |
Het |
| Or7g33 |
A |
G |
9: 19,448,590 (GRCm39) |
V212A |
probably benign |
Het |
| Pim3 |
T |
C |
15: 88,747,425 (GRCm39) |
V97A |
possibly damaging |
Het |
| Piwil2 |
T |
C |
14: 70,638,880 (GRCm39) |
N479S |
probably benign |
Het |
| Pld3 |
C |
A |
7: 27,233,156 (GRCm39) |
W365L |
probably damaging |
Het |
| Plk3 |
C |
A |
4: 116,987,600 (GRCm39) |
E412* |
probably null |
Het |
| Psmd1 |
A |
G |
1: 86,064,772 (GRCm39) |
I935V |
possibly damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,260,944 (GRCm39) |
S91P |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,946,395 (GRCm39) |
N39S |
unknown |
Het |
| Slc22a22 |
A |
G |
15: 57,126,847 (GRCm39) |
V55A |
probably damaging |
Het |
| Snrnp200 |
C |
T |
2: 127,074,986 (GRCm39) |
P1520S |
possibly damaging |
Het |
| Taar7a |
T |
A |
10: 23,868,356 (GRCm39) |
T342S |
probably benign |
Het |
| Tecpr2 |
A |
T |
12: 110,899,449 (GRCm39) |
I606F |
probably benign |
Het |
| Tex19.2 |
A |
T |
11: 121,008,304 (GRCm39) |
M48K |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,992,204 (GRCm39) |
T511A |
probably benign |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
C |
A |
15: 38,008,983 (GRCm39) |
A1077S |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,519,795 (GRCm39) |
R571* |
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 |
|
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'- ACCATTAGGGAGGCTTTATAGTTCAG -3'
(R):5'- TGCCTGTGGGTATGAGCTAC -3'
Sequencing Primer
(F):5'- TAGTTCAGCTTAGGAACACTGCC -3'
(R):5'- GAGCTACCTCACTTGTAAACAAATG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation