Incidental Mutation 'R3842:Nemf'
| ID |
277213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nemf
|
| Ensembl Gene |
ENSMUSG00000020982 |
| Gene Name |
nuclear export mediator factor |
| Synonyms |
Sdccag1, 1500011I12Rik, 4933405E14Rik |
| MMRRC Submission |
040782-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3842 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
69358315-69403975 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69378723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 533
(S533N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021368]
|
| AlphaFold |
Q8CCP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021368
AA Change: S533N
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982
AA Change: S533N
| 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
|
| Meta Mutation Damage Score |
0.8376 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
C |
T |
14: 8,251,543 (GRCm38) |
R318H |
probably damaging |
Het |
| Adamts16 |
T |
C |
13: 70,887,010 (GRCm39) |
Y958C |
possibly damaging |
Het |
| Apol7e |
A |
G |
15: 77,601,789 (GRCm39) |
E129G |
probably damaging |
Het |
| Bmp2k |
A |
G |
5: 97,235,010 (GRCm39) |
|
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,814,966 (GRCm39) |
H26R |
probably damaging |
Het |
| Cpn2 |
A |
G |
16: 30,079,336 (GRCm39) |
S122P |
probably damaging |
Het |
| Dhcr24 |
G |
T |
4: 106,443,002 (GRCm39) |
G346C |
probably damaging |
Het |
| Egf |
G |
A |
3: 129,491,442 (GRCm39) |
R351* |
probably null |
Het |
| Exosc10 |
T |
A |
4: 148,648,322 (GRCm39) |
Y260* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,165,856 (GRCm39) |
S193G |
probably damaging |
Het |
| Grik3 |
T |
C |
4: 125,587,747 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
A |
T |
10: 40,130,317 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Hmgb2 |
T |
A |
8: 57,966,388 (GRCm39) |
S121T |
probably benign |
Het |
| Hyal2 |
T |
C |
9: 107,449,320 (GRCm39) |
S359P |
probably damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,077,977 (GRCm39) |
T156A |
possibly damaging |
Het |
| Lrrk2 |
C |
A |
15: 91,640,119 (GRCm39) |
Q1555K |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,352,619 (GRCm39) |
V349A |
probably damaging |
Het |
| Naa40 |
A |
T |
19: 7,207,174 (GRCm39) |
|
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,231,698 (GRCm39) |
Y54C |
probably damaging |
Het |
| Nkain1 |
T |
A |
4: 130,537,296 (GRCm38) |
I80F |
probably damaging |
Het |
| Or10ak12 |
A |
G |
4: 118,666,452 (GRCm39) |
V203A |
probably damaging |
Het |
| Or2ag13 |
G |
A |
7: 106,473,302 (GRCm39) |
T50I |
probably benign |
Het |
| Or9k2 |
G |
A |
10: 129,998,770 (GRCm39) |
R142C |
probably benign |
Het |
| Pde3b |
T |
C |
7: 114,126,102 (GRCm39) |
S779P |
probably damaging |
Het |
| Prkar2a |
A |
G |
9: 108,605,467 (GRCm39) |
Y175C |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,967,031 (GRCm39) |
|
probably benign |
Het |
| Smgc |
T |
A |
15: 91,744,460 (GRCm39) |
|
probably benign |
Het |
| Tasp1 |
T |
A |
2: 139,793,421 (GRCm39) |
S252C |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,098,314 (GRCm39) |
Y489N |
probably damaging |
Het |
| Topors |
C |
T |
4: 40,262,123 (GRCm39) |
R387H |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,619,963 (GRCm39) |
S15902P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,680,647 (GRCm39) |
|
probably null |
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 |
|
|
R0909:Nemf
|
UTSW |
12 |
69,388,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TCCACCATGACTGGAAACTATTTTG -3'
(R):5'- AGCTGTGCCATAGAATTGCTG -3'
Sequencing Primer
(F):5'- GGCAATACTACTTTTGATATACCCAC -3'
(R):5'- GCTGTGCCATAGAATTGCTGATATC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation