Incidental Mutation 'R1846:Smg7'
| ID |
207696 |
| 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 |
039871-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.923)
|
| Stock # |
R1846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
152712746-152778397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152724601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 527
(S527P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043560]
[ENSMUST00000073441]
[ENSMUST00000111836]
|
| AlphaFold |
Q5RJH6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043560
AA Change: S535P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041241
Gene: ENSMUSG00000042772
AA Change: S535P
| 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: S527P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073144
Gene: ENSMUSG00000042772
AA Change: S527P
| 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: S527P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107467
Gene: ENSMUSG00000042772
AA Change: S527P
| 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
|
| Meta Mutation Damage Score |
0.3763 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
99% (75/76) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
A |
7: 12,246,809 (GRCm39) |
R63Q |
probably benign |
Het |
| Adamts20 |
A |
T |
15: 94,243,871 (GRCm39) |
C619S |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 102,861,165 (GRCm39) |
D121G |
possibly damaging |
Het |
| Anks3 |
A |
C |
16: 4,771,748 (GRCm39) |
M215R |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,718,893 (GRCm39) |
|
probably null |
Het |
| Arhgef25 |
A |
G |
10: 127,021,733 (GRCm39) |
V222A |
probably damaging |
Het |
| Bglap2 |
A |
G |
3: 88,285,932 (GRCm39) |
|
probably benign |
Het |
| Cars2 |
A |
G |
8: 11,564,674 (GRCm39) |
V22A |
probably benign |
Het |
| Ccdc198 |
G |
T |
14: 49,473,420 (GRCm39) |
L102I |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,945,606 (GRCm39) |
I1040N |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,583,335 (GRCm39) |
D1015N |
probably damaging |
Het |
| Chia1 |
T |
A |
3: 106,038,181 (GRCm39) |
I359N |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,038,248 (GRCm39) |
V93E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,891,186 (GRCm39) |
I194V |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,783,267 (GRCm39) |
C734S |
probably benign |
Het |
| Eif4e3 |
T |
C |
6: 99,617,662 (GRCm39) |
S70G |
probably benign |
Het |
| Entpd3 |
G |
A |
9: 120,387,441 (GRCm39) |
D213N |
probably benign |
Het |
| Ern2 |
T |
G |
7: 121,775,759 (GRCm39) |
Y445S |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,704,133 (GRCm39) |
S1429P |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,036,532 (GRCm39) |
I3395V |
probably benign |
Het |
| Fbln2 |
C |
A |
6: 91,233,399 (GRCm39) |
Q628K |
possibly damaging |
Het |
| Fbxo28 |
T |
C |
1: 182,153,845 (GRCm39) |
N164D |
probably benign |
Het |
| Fez1 |
T |
C |
9: 36,779,063 (GRCm39) |
S247P |
probably damaging |
Het |
| Gars1 |
A |
G |
6: 55,040,153 (GRCm39) |
D360G |
probably benign |
Het |
| Gcfc2 |
A |
T |
6: 81,933,873 (GRCm39) |
Q710L |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,446,376 (GRCm39) |
|
probably null |
Het |
| Glp1r |
A |
G |
17: 31,148,909 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
T |
C |
2: 3,492,697 (GRCm39) |
D356G |
possibly damaging |
Het |
| Htt |
T |
A |
5: 35,006,288 (GRCm39) |
I1399N |
probably damaging |
Het |
| Kmt2e |
G |
A |
5: 23,704,484 (GRCm39) |
|
probably benign |
Het |
| Krt36 |
C |
A |
11: 99,996,374 (GRCm39) |
G17C |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,088,092 (GRCm39) |
E895G |
probably damaging |
Het |
| Lamb2 |
G |
A |
9: 108,364,586 (GRCm39) |
R1142H |
probably benign |
Het |
| Lhcgr |
C |
T |
17: 89,072,575 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
A |
G |
17: 71,532,064 (GRCm39) |
T140A |
probably benign |
Het |
| Metap1 |
A |
G |
3: 138,186,443 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
T |
C |
19: 12,440,486 (GRCm39) |
V648A |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,369 (GRCm38) |
I749N |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,862 (GRCm39) |
F1304L |
probably damaging |
Het |
| Nup85 |
A |
G |
11: 115,459,239 (GRCm39) |
E114G |
probably benign |
Het |
| Or2a5 |
A |
G |
6: 42,874,254 (GRCm39) |
S290G |
probably damaging |
Het |
| Or4c10 |
A |
G |
2: 89,761,010 (GRCm39) |
T286A |
possibly damaging |
Het |
| Or6b2b |
A |
T |
1: 92,418,822 (GRCm39) |
Y218* |
probably null |
Het |
| Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
| Parp2 |
T |
A |
14: 51,052,843 (GRCm39) |
C145* |
probably null |
Het |
| Plpp6 |
T |
C |
19: 28,941,680 (GRCm39) |
S94P |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,953,172 (GRCm39) |
I1580T |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,574,043 (GRCm39) |
V860E |
probably damaging |
Het |
| Ppp1r17 |
A |
G |
6: 55,999,412 (GRCm39) |
E15G |
possibly damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,786,831 (GRCm39) |
W133R |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,887,416 (GRCm39) |
|
probably null |
Het |
| Rad23b |
C |
T |
4: 55,383,637 (GRCm39) |
Q290* |
probably null |
Het |
| Rorb |
C |
T |
19: 18,932,445 (GRCm39) |
E369K |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,452 (GRCm39) |
D110G |
probably damaging |
Het |
| Ssbp2 |
C |
T |
13: 91,812,268 (GRCm39) |
P105L |
probably damaging |
Het |
| Stt3a |
C |
T |
9: 36,674,681 (GRCm39) |
R34H |
probably damaging |
Het |
| Sufu |
T |
A |
19: 46,439,386 (GRCm39) |
I202N |
possibly damaging |
Het |
| Thsd7b |
G |
A |
1: 129,540,993 (GRCm39) |
R289Q |
probably damaging |
Het |
| Tph1 |
A |
T |
7: 46,309,863 (GRCm39) |
S130T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,776,030 (GRCm39) |
S1671P |
probably damaging |
Het |
| Usp4 |
A |
G |
9: 108,249,935 (GRCm39) |
I441V |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,413 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn2r115 |
A |
C |
17: 23,578,357 (GRCm39) |
K610T |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,438,546 (GRCm39) |
P97S |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,735,150 (GRCm39) |
D297G |
probably benign |
Het |
| Zfp174 |
C |
A |
16: 3,672,599 (GRCm39) |
Q383K |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,724,592 (GRCm39) |
D2198E |
probably benign |
Het |
| Zfp628 |
C |
T |
7: 4,923,866 (GRCm39) |
P696L |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,409,112 (GRCm39) |
N1695K |
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 |
|
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'- TACAGCTTACCTGCACTGC -3'
(R):5'- AGGCTGATTCAGTGTGAAAATG -3'
Sequencing Primer
(F):5'- AAGGTGCATCTCTTGGTCTCAGC -3'
(R):5'- CTGATTCAGTGTGAAAATGAGGTAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation