Incidental Mutation 'R0909:Nemf'
| ID |
83437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nemf
|
| Ensembl Gene |
ENSMUSG00000020982 |
| Gene Name |
nuclear export mediator factor |
| Synonyms |
Sdccag1, 1500011I12Rik, 4933405E14Rik |
| MMRRC Submission |
039067-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
69358315-69403975 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69388384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 329
(D329V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021368]
[ENSMUST00000021368]
|
| AlphaFold |
Q8CCP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021368
AA Change: D329V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982
AA Change: D329V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FbpA
|
6 |
523 |
5.5e-42 |
PFAM |
|
Pfam:DUF814
|
530 |
630 |
9e-27 |
PFAM |
|
low complexity region
|
697 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
918 |
N/A |
INTRINSIC |
|
Pfam:DUF3441
|
956 |
1055 |
9.8e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021368
AA Change: D329V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982
AA Change: D329V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FbpA
|
6 |
523 |
5.5e-42 |
PFAM |
|
Pfam:DUF814
|
530 |
630 |
9e-27 |
PFAM |
|
low complexity region
|
697 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
918 |
N/A |
INTRINSIC |
|
Pfam:DUF3441
|
956 |
1055 |
9.8e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222763
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
A |
19: 3,765,788 (GRCm39) |
M21K |
probably benign |
Het |
| Ap3s2 |
T |
C |
7: 79,530,266 (GRCm39) |
N183S |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,543,755 (GRCm39) |
I100V |
probably benign |
Het |
| Cep170b |
A |
G |
12: 112,698,473 (GRCm39) |
K77R |
probably null |
Het |
| Chmp5 |
C |
A |
4: 40,960,968 (GRCm39) |
N202K |
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 19,122,444 (GRCm39) |
L15I |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,125,480 (GRCm39) |
V542A |
possibly damaging |
Het |
| Exosc9 |
A |
T |
3: 36,608,853 (GRCm39) |
I151F |
probably damaging |
Het |
| Eya2 |
A |
G |
2: 165,596,413 (GRCm39) |
N308S |
probably benign |
Het |
| Fbxw21 |
C |
A |
9: 108,985,476 (GRCm39) |
A101S |
possibly damaging |
Het |
| Frem3 |
A |
C |
8: 81,390,035 (GRCm39) |
N1762T |
probably benign |
Het |
| H2-DMb2 |
C |
A |
17: 34,367,783 (GRCm39) |
T68N |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,183,637 (GRCm39) |
E126G |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
| Mrpl44 |
G |
A |
1: 79,757,370 (GRCm39) |
V272I |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,569,141 (GRCm39) |
L723F |
probably benign |
Het |
| Noxa1 |
A |
T |
2: 24,981,806 (GRCm39) |
L99Q |
probably damaging |
Het |
| Nr6a1 |
A |
T |
2: 38,775,218 (GRCm39) |
D44E |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,965,890 (GRCm39) |
D3131G |
probably damaging |
Het |
| Or10a5 |
T |
C |
7: 106,635,401 (GRCm39) |
I13T |
probably benign |
Het |
| Or10c1 |
T |
G |
17: 37,521,809 (GRCm39) |
I312L |
probably benign |
Het |
| Or52p2 |
A |
T |
7: 102,237,654 (GRCm39) |
C99S |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,402,279 (GRCm39) |
|
probably null |
Het |
| Rbsn |
G |
A |
6: 92,166,791 (GRCm39) |
Q618* |
probably null |
Het |
| Rccd1 |
A |
C |
7: 79,968,799 (GRCm39) |
|
probably null |
Het |
| Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
| Socs5 |
T |
A |
17: 87,441,201 (GRCm39) |
L47Q |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,652,880 (GRCm39) |
T593A |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,851,271 (GRCm39) |
I748V |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,288,105 (GRCm39) |
D435G |
probably benign |
Het |
| Vmn2r69 |
C |
T |
7: 85,055,873 (GRCm39) |
G755D |
probably benign |
Het |
| Vsnl1 |
A |
G |
12: 11,376,372 (GRCm39) |
F171S |
probably damaging |
Het |
| Wbp2nl |
G |
A |
15: 82,198,275 (GRCm39) |
A271T |
probably benign |
Het |
|
| Other mutations in Nemf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01508:Nemf
|
APN |
12 |
69,391,760 (GRCm39) |
splice site |
probably benign |
|
|
IGL02499:Nemf
|
APN |
12 |
69,368,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03352:Nemf
|
APN |
12 |
69,378,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
kaempfer
|
UTSW |
12 |
69,399,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0335:Nemf
|
UTSW |
12 |
69,400,577 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0538:Nemf
|
UTSW |
12 |
69,403,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0581:Nemf
|
UTSW |
12 |
69,369,045 (GRCm39) |
missense |
probably benign |
|
|
R1792:Nemf
|
UTSW |
12 |
69,359,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Nemf
|
UTSW |
12 |
69,393,152 (GRCm39) |
missense |
probably null |
|
|
R2080:Nemf
|
UTSW |
12 |
69,400,560 (GRCm39) |
splice site |
probably benign |
|
|
R3704:Nemf
|
UTSW |
12 |
69,377,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3842:Nemf
|
UTSW |
12 |
69,378,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4471:Nemf
|
UTSW |
12 |
69,361,216 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4666:Nemf
|
UTSW |
12 |
69,359,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Nemf
|
UTSW |
12 |
69,371,062 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5198:Nemf
|
UTSW |
12 |
69,402,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5474:Nemf
|
UTSW |
12 |
69,363,109 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6893:Nemf
|
UTSW |
12 |
69,399,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7008:Nemf
|
UTSW |
12 |
69,400,567 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7008:Nemf
|
UTSW |
12 |
69,388,395 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7098:Nemf
|
UTSW |
12 |
69,359,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Nemf
|
UTSW |
12 |
69,363,515 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7452:Nemf
|
UTSW |
12 |
69,384,733 (GRCm39) |
splice site |
probably null |
|
|
R8130:Nemf
|
UTSW |
12 |
69,402,826 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8340:Nemf
|
UTSW |
12 |
69,400,659 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8914:Nemf
|
UTSW |
12 |
69,363,089 (GRCm39) |
nonsense |
probably null |
|
|
R9089:Nemf
|
UTSW |
12 |
69,400,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Nemf
|
UTSW |
12 |
69,387,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9228:Nemf
|
UTSW |
12 |
69,388,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Nemf
|
UTSW |
12 |
69,359,436 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACGCACTTCGGACTACCTGAAT -3'
(R):5'- GGGAGCGAACTTTGGGGAAACTTT -3'
Sequencing Primer
(F):5'- GGACTACCTGAATGGCTCTGTC -3'
(R):5'- TGGGGAAACTTTTTAAGTTGCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation