Incidental Mutation 'IGL02215:Smg5'
| ID |
284818 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Smg5
|
| Ensembl Gene |
ENSMUSG00000001415 |
| Gene Name |
SMG5 nonsense mediated mRNA decay factor |
| Synonyms |
Smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02215
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88243567-88269645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88260305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 632
(S632P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
|
| AlphaFold |
Q6ZPY2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001451
AA Change: S632P
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: S632P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
Pfam:EST1
|
77 |
189 |
1.1e-26 |
PFAM |
|
Pfam:EST1_DNA_bind
|
197 |
427 |
4.6e-53 |
PFAM |
|
low complexity region
|
447 |
468 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
501 |
N/A |
INTRINSIC |
|
Pfam:EST1_DNA_bind
|
611 |
745 |
3.7e-9 |
PFAM |
|
coiled coil region
|
801 |
842 |
N/A |
INTRINSIC |
|
PINc
|
856 |
979 |
3.23e-15 |
SMART |
|
low complexity region
|
990 |
999 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193097
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921511C20Rik |
T |
A |
X: 126,303,196 (GRCm39) |
S378R |
probably benign |
Het |
| Abca14 |
T |
A |
7: 119,852,612 (GRCm39) |
M859K |
probably benign |
Het |
| Adamts13 |
C |
T |
2: 26,875,495 (GRCm39) |
P462S |
probably damaging |
Het |
| Apol7a |
G |
T |
15: 77,277,690 (GRCm39) |
D19E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,366,031 (GRCm39) |
N628D |
possibly damaging |
Het |
| Astn2 |
T |
A |
4: 66,184,471 (GRCm39) |
I209F |
unknown |
Het |
| Atp10b |
T |
C |
11: 43,085,492 (GRCm39) |
|
probably null |
Het |
| C4b |
C |
T |
17: 34,953,465 (GRCm39) |
C1006Y |
probably damaging |
Het |
| Capn13 |
A |
G |
17: 73,637,993 (GRCm39) |
L470P |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,431,530 (GRCm39) |
R1585G |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,449,084 (GRCm39) |
V3637M |
probably damaging |
Het |
| Dgki |
C |
T |
6: 36,993,610 (GRCm39) |
D584N |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,655,498 (GRCm39) |
S366P |
probably damaging |
Het |
| Dmtf1 |
A |
C |
5: 9,186,070 (GRCm39) |
L172R |
probably damaging |
Het |
| Efhc2 |
A |
G |
X: 17,096,817 (GRCm39) |
F177L |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,063,926 (GRCm39) |
|
probably benign |
Het |
| Enpp6 |
A |
T |
8: 47,518,967 (GRCm39) |
D245V |
probably damaging |
Het |
| Fam199x |
T |
A |
X: 135,963,399 (GRCm39) |
|
probably benign |
Het |
| Fkbp4 |
A |
T |
6: 128,411,433 (GRCm39) |
|
probably benign |
Het |
| Gas7 |
A |
G |
11: 67,534,158 (GRCm39) |
H86R |
probably benign |
Het |
| Gcc2 |
A |
G |
10: 58,107,458 (GRCm39) |
N862S |
probably benign |
Het |
| Gstm7 |
T |
C |
3: 107,837,594 (GRCm39) |
D115G |
possibly damaging |
Het |
| Gtse1 |
C |
A |
15: 85,746,799 (GRCm39) |
P205Q |
possibly damaging |
Het |
| H2bc1 |
A |
T |
13: 24,118,093 (GRCm39) |
F16Y |
probably benign |
Het |
| Herc4 |
G |
A |
10: 63,109,345 (GRCm39) |
M193I |
probably benign |
Het |
| Igfl3 |
T |
A |
7: 17,913,763 (GRCm39) |
C38S |
possibly damaging |
Het |
| Il18rap |
G |
A |
1: 40,587,082 (GRCm39) |
D455N |
probably damaging |
Het |
| Ints8 |
A |
G |
4: 11,209,244 (GRCm39) |
I932T |
probably damaging |
Het |
| Itgbl1 |
A |
C |
14: 124,209,553 (GRCm39) |
I311L |
probably benign |
Het |
| Jmjd1c |
A |
T |
10: 67,056,101 (GRCm39) |
H794L |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,948,271 (GRCm39) |
S1542P |
probably benign |
Het |
| Klc3 |
T |
A |
7: 19,129,750 (GRCm39) |
N373I |
probably damaging |
Het |
| Lcn2 |
T |
C |
2: 32,274,877 (GRCm39) |
*201W |
probably null |
Het |
| Ldhb |
A |
T |
6: 142,441,292 (GRCm39) |
|
probably null |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Npat |
T |
A |
9: 53,470,417 (GRCm39) |
S348T |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,906,999 (GRCm39) |
D5001V |
unknown |
Het |
| Peg3 |
C |
A |
7: 6,712,010 (GRCm39) |
A1071S |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,628,822 (GRCm39) |
D731E |
possibly damaging |
Het |
| Prss41 |
T |
A |
17: 24,062,830 (GRCm39) |
D35V |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 22,965,181 (GRCm39) |
D159E |
possibly damaging |
Het |
| Rabep1 |
C |
T |
11: 70,814,023 (GRCm39) |
Q571* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,927,453 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,576 (GRCm39) |
T1234I |
possibly damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,564,738 (GRCm39) |
M414L |
probably benign |
Het |
| Smim15 |
A |
G |
13: 108,184,048 (GRCm39) |
D18G |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,929,478 (GRCm39) |
I1132F |
probably damaging |
Het |
| Spatc1 |
T |
C |
15: 76,167,739 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
A |
T |
7: 90,030,422 (GRCm39) |
|
probably benign |
Het |
| Tesc |
A |
G |
5: 118,199,683 (GRCm39) |
D195G |
probably damaging |
Het |
| Tmem39b |
T |
A |
4: 129,586,311 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
A |
G |
7: 9,905,029 (GRCm39) |
V270A |
probably damaging |
Het |
| Wdr3 |
C |
A |
3: 100,054,016 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Smg5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Smg5
|
APN |
3 |
88,258,735 (GRCm39) |
nonsense |
probably null |
|
|
IGL00902:Smg5
|
APN |
3 |
88,260,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00990:Smg5
|
APN |
3 |
88,250,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01371:Smg5
|
APN |
3 |
88,266,951 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01536:Smg5
|
APN |
3 |
88,256,552 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03366:Smg5
|
APN |
3 |
88,253,759 (GRCm39) |
nonsense |
probably null |
|
|
R0013:Smg5
|
UTSW |
3 |
88,256,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0017:Smg5
|
UTSW |
3 |
88,258,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0017:Smg5
|
UTSW |
3 |
88,258,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0129:Smg5
|
UTSW |
3 |
88,256,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0153:Smg5
|
UTSW |
3 |
88,261,179 (GRCm39) |
unclassified |
probably benign |
|
|
R1386:Smg5
|
UTSW |
3 |
88,262,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1941:Smg5
|
UTSW |
3 |
88,252,687 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2185:Smg5
|
UTSW |
3 |
88,258,868 (GRCm39) |
missense |
probably benign |
|
|
R2282:Smg5
|
UTSW |
3 |
88,252,705 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3615:Smg5
|
UTSW |
3 |
88,243,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3616:Smg5
|
UTSW |
3 |
88,243,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4008:Smg5
|
UTSW |
3 |
88,256,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4687:Smg5
|
UTSW |
3 |
88,249,776 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4726:Smg5
|
UTSW |
3 |
88,243,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4801:Smg5
|
UTSW |
3 |
88,262,999 (GRCm39) |
nonsense |
probably null |
|
|
R4802:Smg5
|
UTSW |
3 |
88,262,999 (GRCm39) |
nonsense |
probably null |
|
|
R4977:Smg5
|
UTSW |
3 |
88,263,032 (GRCm39) |
nonsense |
probably null |
|
|
R5384:Smg5
|
UTSW |
3 |
88,258,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Smg5
|
UTSW |
3 |
88,261,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5779:Smg5
|
UTSW |
3 |
88,258,925 (GRCm39) |
unclassified |
probably benign |
|
|
R5860:Smg5
|
UTSW |
3 |
88,250,214 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6080:Smg5
|
UTSW |
3 |
88,258,816 (GRCm39) |
missense |
probably benign |
|
|
R6263:Smg5
|
UTSW |
3 |
88,249,208 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6431:Smg5
|
UTSW |
3 |
88,258,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6722:Smg5
|
UTSW |
3 |
88,260,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6847:Smg5
|
UTSW |
3 |
88,249,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Smg5
|
UTSW |
3 |
88,256,576 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7091:Smg5
|
UTSW |
3 |
88,258,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7395:Smg5
|
UTSW |
3 |
88,268,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7678:Smg5
|
UTSW |
3 |
88,261,202 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7796:Smg5
|
UTSW |
3 |
88,256,739 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8209:Smg5
|
UTSW |
3 |
88,258,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8327:Smg5
|
UTSW |
3 |
88,252,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Smg5
|
UTSW |
3 |
88,267,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9345:Smg5
|
UTSW |
3 |
88,261,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9534:Smg5
|
UTSW |
3 |
88,252,759 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9602:Smg5
|
UTSW |
3 |
88,250,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Smg5
|
UTSW |
3 |
88,260,297 (GRCm39) |
missense |
probably benign |
0.33 |
|
Z1177:Smg5
|
UTSW |
3 |
88,258,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation