Incidental Mutation 'R8209:Smg5'
| ID |
636052 |
| 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 |
067632-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8209 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88243567-88269645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88258838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 603
(A603V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001451]
|
| AlphaFold |
Q6ZPY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001451
AA Change: A603V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000001451
Gene: ENSMUSG00000001415
AA Change: A603V
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,094,195 (GRCm39) |
N27S |
probably damaging |
Het |
| Akr1b1 |
G |
C |
6: 34,288,867 (GRCm39) |
T114R |
probably damaging |
Het |
| Alx4 |
T |
C |
2: 93,505,696 (GRCm39) |
M266T |
possibly damaging |
Het |
| Arhgap21 |
C |
T |
2: 20,876,556 (GRCm39) |
D820N |
probably damaging |
Het |
| Clec4a1 |
A |
G |
6: 122,907,773 (GRCm39) |
S154G |
probably damaging |
Het |
| Col11a2 |
T |
C |
17: 34,266,253 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,866 (GRCm39) |
V65E |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,623,110 (GRCm39) |
E3996G |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,541,947 (GRCm39) |
Y818C |
probably benign |
Het |
| Dzip3 |
C |
T |
16: 48,798,307 (GRCm39) |
G133S |
probably damaging |
Het |
| Efcab6 |
T |
C |
15: 83,788,456 (GRCm39) |
Y946C |
probably benign |
Het |
| Eprs1 |
A |
G |
1: 185,139,812 (GRCm39) |
E967G |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
| Fchsd2 |
C |
T |
7: 100,931,679 (GRCm39) |
P745L |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,425,041 (GRCm39) |
I661V |
possibly damaging |
Het |
| Gm14295 |
T |
A |
2: 176,502,970 (GRCm39) |
I820K |
unknown |
Het |
| Grb10 |
G |
T |
11: 11,901,533 (GRCm39) |
L214M |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,616,764 (GRCm39) |
V396A |
probably benign |
Het |
| Il17rc |
C |
A |
6: 113,449,771 (GRCm39) |
Q126K |
probably benign |
Het |
| Ipo8 |
A |
G |
6: 148,698,176 (GRCm39) |
I615T |
possibly damaging |
Het |
| Irak4 |
T |
A |
15: 94,456,244 (GRCm39) |
L277Q |
probably damaging |
Het |
| Islr |
T |
C |
9: 58,065,340 (GRCm39) |
S56G |
probably damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,480 (GRCm39) |
M777K |
possibly damaging |
Het |
| Lrch4 |
A |
G |
5: 137,637,997 (GRCm39) |
H93R |
|
Het |
| Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,316,336 (GRCm39) |
K1846N |
probably damaging |
Het |
| Nedd1 |
T |
A |
10: 92,527,797 (GRCm39) |
M466L |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,593,836 (GRCm39) |
K786E |
probably benign |
Het |
| Or51f23b |
T |
C |
7: 102,402,950 (GRCm39) |
Y62C |
probably benign |
Het |
| Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
| Or5m12 |
T |
C |
2: 85,734,547 (GRCm39) |
I284V |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,603,299 (GRCm39) |
L143P |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,437,803 (GRCm39) |
N3533D |
possibly damaging |
Het |
| Plpp1 |
A |
T |
13: 113,003,465 (GRCm39) |
T230S |
probably benign |
Het |
| Prokr2 |
C |
A |
2: 132,215,961 (GRCm39) |
A167S |
probably damaging |
Het |
| Qser1 |
C |
T |
2: 104,619,070 (GRCm39) |
A491T |
probably benign |
Het |
| Rc3h2 |
T |
A |
2: 37,267,001 (GRCm39) |
Y1040F |
possibly damaging |
Het |
| Rgl2 |
C |
T |
17: 34,151,501 (GRCm39) |
L182F |
possibly damaging |
Het |
| Rnf130 |
T |
C |
11: 49,962,097 (GRCm39) |
V181A |
probably benign |
Het |
| Scn7a |
T |
G |
2: 66,531,204 (GRCm39) |
I558L |
possibly damaging |
Het |
| Shtn1 |
T |
C |
19: 58,992,328 (GRCm39) |
I417V |
possibly damaging |
Het |
| Slco1a5 |
T |
G |
6: 142,208,408 (GRCm39) |
N128H |
probably damaging |
Het |
| Svs3b |
T |
A |
2: 164,098,140 (GRCm39) |
E60D |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Timm44 |
A |
T |
8: 4,316,844 (GRCm39) |
M263K |
probably benign |
Het |
| Tmem150b |
A |
G |
7: 4,723,691 (GRCm39) |
L162P |
probably damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,687,566 (GRCm39) |
V114A |
probably damaging |
Het |
| Trak1 |
C |
T |
9: 121,280,793 (GRCm39) |
T394I |
probably benign |
Het |
| Tram2 |
A |
C |
1: 21,075,801 (GRCm39) |
Y206D |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,403,133 (GRCm39) |
V497M |
probably damaging |
Het |
| Trpc2 |
A |
G |
7: 101,737,482 (GRCm39) |
M425V |
possibly damaging |
Het |
| Tuba1b |
C |
T |
15: 98,829,591 (GRCm39) |
G410S |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,199 (GRCm39) |
D285G |
possibly damaging |
Het |
| Zfp536 |
A |
T |
7: 37,268,080 (GRCm39) |
S445R |
probably benign |
Het |
| Zfp606 |
A |
T |
7: 12,227,234 (GRCm39) |
T452S |
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 |
|
R7796:Smg5
|
UTSW |
3 |
88,256,739 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- CCGGTCAGACCTGGAAGATATG -3'
(R):5'- AGCAAACGTTCTGGAGGCTG -3'
Sequencing Primer
(F):5'- CCTCAGGCCAGATCAGAGGTTC -3'
(R):5'- TTCTGGAGGCTGGAAATGAGTAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation