Incidental Mutation 'R7796:Smg5'
| ID |
600214 |
| Institutional Source |
Beutler Lab
|
| 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) |
| MMRRC Submission |
045852-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88243567-88269645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88256739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 299
(Q299L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
|
| AlphaFold |
Q6ZPY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001451
AA Change: Q299L
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: Q299L
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (54/54) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
T |
A |
16: 97,867,024 (GRCm39) |
I313F |
probably benign |
Het |
| Acot2 |
T |
A |
12: 84,035,257 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
G |
T |
4: 110,518,165 (GRCm39) |
G152V |
unknown |
Het |
| Arap2 |
A |
G |
5: 62,888,105 (GRCm39) |
S414P |
probably damaging |
Het |
| Cep85l |
A |
C |
10: 53,157,497 (GRCm39) |
N735K |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,585,833 (GRCm39) |
S1209G |
possibly damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
| Dpf1 |
C |
G |
7: 29,011,106 (GRCm39) |
N168K |
possibly damaging |
Het |
| Dync1li2 |
T |
A |
8: 105,157,181 (GRCm39) |
Y184F |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,319,727 (GRCm39) |
T187A |
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fndc3b |
G |
A |
3: 27,515,892 (GRCm39) |
T638I |
probably benign |
Het |
| Gm11564 |
A |
G |
11: 99,706,424 (GRCm39) |
V2A |
unknown |
Het |
| Gm3159 |
A |
G |
14: 4,400,560 (GRCm38) |
*206W |
probably null |
Het |
| Gm32742 |
A |
G |
9: 51,071,123 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
G |
A |
1: 166,469,819 (GRCm39) |
H85Y |
probably damaging |
Het |
| Gprc5c |
A |
T |
11: 114,755,358 (GRCm39) |
D345V |
probably damaging |
Het |
| Kalrn |
A |
T |
16: 34,007,854 (GRCm39) |
Y1363* |
probably null |
Het |
| Kdm5a |
T |
C |
6: 120,367,724 (GRCm39) |
V473A |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,032,350 (GRCm39) |
C28R |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,321,965 (GRCm39) |
Y664H |
probably damaging |
Het |
| Krt17 |
A |
G |
11: 100,151,698 (GRCm39) |
S32P |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,383,865 (GRCm39) |
V424A |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,759,634 (GRCm39) |
T201A |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,455,654 (GRCm39) |
|
probably null |
Het |
| Megf10 |
C |
A |
18: 57,410,731 (GRCm39) |
T680N |
possibly damaging |
Het |
| Metap1d |
T |
A |
2: 71,342,506 (GRCm39) |
D178E |
probably damaging |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,299,923 (GRCm39) |
S1704P |
probably damaging |
Het |
| Nr2f2 |
A |
G |
7: 70,007,901 (GRCm39) |
S194P |
probably benign |
Het |
| Nrsn2 |
T |
A |
2: 152,218,471 (GRCm39) |
|
probably benign |
Het |
| Ociad1 |
C |
T |
5: 73,452,290 (GRCm39) |
P27L |
probably damaging |
Het |
| Or13p5 |
T |
A |
4: 118,591,882 (GRCm39) |
I52N |
probably damaging |
Het |
| Or4a39 |
T |
A |
2: 89,237,157 (GRCm39) |
T89S |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,435,220 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,446 (GRCm39) |
I140V |
possibly damaging |
Het |
| Pla2g6 |
T |
C |
15: 79,202,025 (GRCm39) |
N49D |
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,380,727 (GRCm39) |
D432V |
possibly damaging |
Het |
| Pxdc1 |
T |
A |
13: 34,836,354 (GRCm39) |
N22I |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,996,865 (GRCm39) |
Y672H |
probably damaging |
Het |
| Rps23rg1 |
T |
C |
8: 3,634,160 (GRCm39) |
V111A |
probably benign |
Het |
| Safb2 |
T |
C |
17: 56,873,327 (GRCm39) |
R779G |
possibly damaging |
Het |
| Skic2 |
C |
T |
17: 35,063,394 (GRCm39) |
G628S |
probably damaging |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,929,044 (GRCm39) |
L864S |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,119,212 (GRCm39) |
V119A |
probably benign |
Het |
| Tasp1 |
T |
C |
2: 139,850,705 (GRCm39) |
N106S |
probably damaging |
Het |
| Tcf4 |
T |
A |
18: 69,697,140 (GRCm39) |
N156K |
probably benign |
Het |
| Trav14n-3 |
T |
A |
14: 53,607,827 (GRCm39) |
Y52* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,665,222 (GRCm39) |
E11598G |
unknown |
Het |
| Unc80 |
A |
G |
1: 66,542,873 (GRCm39) |
I376V |
probably benign |
Het |
| Ybx3 |
T |
C |
6: 131,345,479 (GRCm39) |
E298G |
probably damaging |
Het |
| Yipf7 |
T |
C |
5: 69,684,596 (GRCm39) |
Y73C |
possibly damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,583 (GRCm39) |
A321T |
possibly damaging |
Het |
| Zfp369 |
A |
G |
13: 65,444,029 (GRCm39) |
R391G |
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,654,982 (GRCm39) |
E492G |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,673,403 (GRCm39) |
T51A |
probably benign |
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 |
|
IGL02215:Smg5
|
APN |
3 |
88,260,305 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAAATGTACCACCAGTTG -3'
(R):5'- AGTGTCTACCGAGTCACTTGG -3'
Sequencing Primer
(F):5'- TGTACCACCAGTTGAAGAAGTCTG -3'
(R):5'- GGTCACTCCTCTAGCATCTAATGAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation