Incidental Mutation 'R3704:Nemf'
| ID |
258668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nemf
|
| Ensembl Gene |
ENSMUSG00000020982 |
| Gene Name |
nuclear export mediator factor |
| Synonyms |
Sdccag1, 1500011I12Rik, 4933405E14Rik |
| MMRRC Submission |
040697-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3704 (G1)
|
| Quality Score |
161 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
69358315-69403975 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69377904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 566
(D566Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021368]
|
| AlphaFold |
Q8CCP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021368
AA Change: D566Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982
AA Change: D566Y
| 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 |
0.9020 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 91.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,316,298 (GRCm39) |
C585R |
probably damaging |
Het |
| Akr1b10 |
G |
T |
6: 34,371,689 (GRCm39) |
D285Y |
probably damaging |
Het |
| Akr1b10 |
A |
G |
6: 34,371,690 (GRCm39) |
D257G |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,391,828 (GRCm39) |
N1838K |
possibly damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
| Cd27 |
C |
T |
6: 125,210,361 (GRCm39) |
C222Y |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,583,912 (GRCm39) |
T584K |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,703,608 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,842,156 (GRCm39) |
T443A |
probably damaging |
Het |
| Crisp3 |
A |
G |
17: 40,546,848 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,177,216 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
C |
11: 55,200,476 (GRCm39) |
F866C |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,543,841 (GRCm39) |
G269C |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ifi35 |
G |
A |
11: 101,339,430 (GRCm39) |
M1I |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,055,831 (GRCm39) |
T308A |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,893,588 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,461,706 (GRCm39) |
T819M |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,996,978 (GRCm39) |
T190A |
possibly damaging |
Het |
| Mosmo |
A |
G |
7: 120,329,828 (GRCm39) |
I150V |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,299 (GRCm39) |
F106I |
possibly damaging |
Het |
| Paip2 |
A |
G |
18: 35,743,974 (GRCm39) |
T9A |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,572,668 (GRCm39) |
S318P |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,277 (GRCm39) |
I145V |
possibly damaging |
Het |
| Prl2c2 |
C |
T |
13: 13,176,810 (GRCm39) |
R37H |
probably damaging |
Het |
| Raet1e |
A |
G |
10: 22,056,744 (GRCm39) |
T107A |
probably benign |
Het |
| Reps1 |
T |
G |
10: 17,983,428 (GRCm39) |
F424V |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,993,669 (GRCm39) |
V401D |
possibly damaging |
Het |
| Srgn |
T |
C |
10: 62,333,609 (GRCm39) |
D56G |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,662,124 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,846 (GRCm39) |
F340L |
possibly damaging |
Het |
| Xirp1 |
T |
A |
9: 120,016,907 (GRCm38) |
Q970L |
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
| Zmat4 |
A |
G |
8: 24,287,430 (GRCm39) |
R59G |
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 |
|
|
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 |
|
|
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'- TGCTTCCGGGGAATCAACAC -3'
(R):5'- AGGCTAAGTCTAGAGGACCAC -3'
Sequencing Primer
(F):5'- CGGGGAATCAACACTTTCTTC -3'
(R):5'- CCACAGTTCTAGAGGATCGAGTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation