Incidental Mutation 'IGL01289:Nmd3'
| ID |
72860 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nmd3
|
| Ensembl Gene |
ENSMUSG00000027787 |
| Gene Name |
NMD3 ribosome export adaptor |
| Synonyms |
C87860 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL01289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
69629354-69656380 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 69631620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 25
(S25R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029358]
[ENSMUST00000135266]
[ENSMUST00000143041]
[ENSMUST00000143249]
|
| AlphaFold |
Q99L48 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029358
AA Change: S25R
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029358
Gene: ENSMUSG00000027787
AA Change: S25R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NMD3
|
17 |
246 |
6.6e-82 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127211
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135266
AA Change: S25R
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142290
Gene: ENSMUSG00000027787
AA Change: S25R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NMD3
|
17 |
128 |
2e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143041
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143249
AA Change: S25R
PolyPhen 2
Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115736
Gene: ENSMUSG00000027787
AA Change: S25R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NMD3
|
17 |
76 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149680
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194168
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
A |
7: 130,740,350 (GRCm39) |
M289L |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,500,157 (GRCm39) |
M38K |
probably damaging |
Het |
| Atp8a2 |
G |
A |
14: 59,928,910 (GRCm39) |
A1048V |
probably benign |
Het |
| Cables1 |
T |
C |
18: 12,077,621 (GRCm39) |
V583A |
probably damaging |
Het |
| Ccng2 |
A |
G |
5: 93,421,276 (GRCm39) |
K262R |
probably null |
Het |
| Cfap206 |
C |
A |
4: 34,716,469 (GRCm39) |
S332I |
probably null |
Het |
| Dscam |
A |
T |
16: 96,445,082 (GRCm39) |
Y1536* |
probably null |
Het |
| Fam136b-ps |
T |
A |
15: 31,277,010 (GRCm39) |
|
probably benign |
Het |
| Fga |
A |
G |
3: 82,938,552 (GRCm39) |
Y309C |
possibly damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,167 (GRCm39) |
N129K |
probably damaging |
Het |
| Gbp8 |
G |
A |
5: 105,165,735 (GRCm39) |
A306V |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,438,719 (GRCm39) |
Y888C |
probably damaging |
Het |
| Herc6 |
G |
A |
6: 57,575,608 (GRCm39) |
G210R |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,347,890 (GRCm39) |
R754H |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,122,762 (GRCm39) |
I731M |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,014,033 (GRCm39) |
K2588* |
probably null |
Het |
| Itpr3 |
T |
A |
17: 27,318,739 (GRCm39) |
M965K |
probably damaging |
Het |
| Kif22 |
A |
G |
7: 126,632,645 (GRCm39) |
V247A |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,899 (GRCm39) |
F127S |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,542 (GRCm39) |
L190Q |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,050,066 (GRCm39) |
F66I |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Npy5r |
T |
A |
8: 67,134,518 (GRCm39) |
N92Y |
possibly damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,191 (GRCm39) |
M96T |
probably benign |
Het |
| Rnf224 |
G |
T |
2: 25,126,259 (GRCm39) |
D31E |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,570,499 (GRCm39) |
E192G |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,910,187 (GRCm39) |
C777S |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,689,625 (GRCm39) |
L547P |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,662,565 (GRCm39) |
V236F |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,525 (GRCm39) |
N1922I |
probably damaging |
Het |
| Zdhhc24 |
G |
T |
19: 4,928,850 (GRCm39) |
W25L |
probably damaging |
Het |
|
| Other mutations in Nmd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Nmd3
|
APN |
3 |
69,652,573 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01014:Nmd3
|
APN |
3 |
69,633,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02566:Nmd3
|
APN |
3 |
69,647,247 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03259:Nmd3
|
APN |
3 |
69,652,576 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03299:Nmd3
|
APN |
3 |
69,637,762 (GRCm39) |
splice site |
probably null |
|
|
IGL03382:Nmd3
|
APN |
3 |
69,642,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0017:Nmd3
|
UTSW |
3 |
69,643,425 (GRCm39) |
splice site |
probably null |
|
|
R0025:Nmd3
|
UTSW |
3 |
69,655,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0350:Nmd3
|
UTSW |
3 |
69,650,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1136:Nmd3
|
UTSW |
3 |
69,654,049 (GRCm39) |
splice site |
probably benign |
|
|
R1635:Nmd3
|
UTSW |
3 |
69,647,317 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3081:Nmd3
|
UTSW |
3 |
69,631,732 (GRCm39) |
splice site |
probably benign |
|
|
R3686:Nmd3
|
UTSW |
3 |
69,654,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3758:Nmd3
|
UTSW |
3 |
69,631,641 (GRCm39) |
nonsense |
probably null |
|
|
R4384:Nmd3
|
UTSW |
3 |
69,631,731 (GRCm39) |
splice site |
probably benign |
|
|
R4774:Nmd3
|
UTSW |
3 |
69,652,569 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4778:Nmd3
|
UTSW |
3 |
69,638,924 (GRCm39) |
nonsense |
probably null |
|
|
R4953:Nmd3
|
UTSW |
3 |
69,638,970 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5000:Nmd3
|
UTSW |
3 |
69,624,735 (GRCm39) |
unclassified |
probably benign |
|
|
R5182:Nmd3
|
UTSW |
3 |
69,629,801 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6043:Nmd3
|
UTSW |
3 |
69,652,580 (GRCm39) |
missense |
probably benign |
|
|
R6355:Nmd3
|
UTSW |
3 |
69,636,680 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6760:Nmd3
|
UTSW |
3 |
69,654,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7869:Nmd3
|
UTSW |
3 |
69,633,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Nmd3
|
UTSW |
3 |
69,637,298 (GRCm39) |
unclassified |
probably benign |
|
|
R8729:Nmd3
|
UTSW |
3 |
69,655,682 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9018:Nmd3
|
UTSW |
3 |
69,647,328 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9419:Nmd3
|
UTSW |
3 |
69,643,349 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9499:Nmd3
|
UTSW |
3 |
69,647,329 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9551:Nmd3
|
UTSW |
3 |
69,647,329 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2013-10-07 |
Incidental Mutation