Incidental Mutation 'R5474:Nemf'
| ID |
433985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nemf
|
| Ensembl Gene |
ENSMUSG00000020982 |
| Gene Name |
nuclear export mediator factor |
| Synonyms |
Sdccag1, 1500011I12Rik, 4933405E14Rik |
| MMRRC Submission |
043035-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5474 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
69358315-69403975 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 69363109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 923
(R923L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021368]
|
| AlphaFold |
Q8CCP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021368
AA Change: R923L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000021368
Gene: ENSMUSG00000020982
AA Change: R923L
| 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: ENSMUST00000221112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221278
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221794
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 90.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
C |
T |
12: 118,904,425 (GRCm39) |
G122S |
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,812,926 (GRCm39) |
D461G |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,725,634 (GRCm39) |
I2119T |
probably benign |
Het |
| Bud13 |
G |
C |
9: 46,199,251 (GRCm39) |
R204T |
probably damaging |
Het |
| Clec4a4 |
T |
C |
6: 122,989,706 (GRCm39) |
S116P |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,536 (GRCm39) |
Y326C |
probably damaging |
Het |
| Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
| Cspg5 |
A |
T |
9: 110,080,076 (GRCm39) |
I334F |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,313,436 (GRCm39) |
A350T |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,797,009 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
| Drd4 |
T |
C |
7: 140,873,641 (GRCm39) |
W98R |
probably damaging |
Het |
| Duox1 |
A |
T |
2: 122,177,106 (GRCm39) |
Q1511L |
probably benign |
Het |
| Gtdc1 |
A |
T |
2: 44,646,379 (GRCm39) |
L83Q |
probably damaging |
Het |
| H2-T3 |
G |
A |
17: 36,500,999 (GRCm39) |
P6S |
probably damaging |
Het |
| H6pd |
A |
G |
4: 150,080,546 (GRCm39) |
C92R |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,249,583 (GRCm39) |
V923A |
unknown |
Het |
| Kcnc4 |
A |
T |
3: 107,355,207 (GRCm39) |
S414T |
possibly damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,571 (GRCm39) |
M278K |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,783,943 (GRCm39) |
S424T |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,581,635 (GRCm39) |
S2500N |
unknown |
Het |
| Ncs1 |
A |
T |
2: 31,170,796 (GRCm39) |
N70Y |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,963,170 (GRCm39) |
I246M |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,523,401 (GRCm39) |
S275F |
probably damaging |
Het |
| Or6a2 |
T |
A |
7: 106,600,296 (GRCm39) |
Y257F |
probably damaging |
Het |
| Or8g51 |
T |
A |
9: 38,609,609 (GRCm39) |
T18S |
possibly damaging |
Het |
| Polb |
A |
G |
8: 23,120,386 (GRCm39) |
Y296H |
probably benign |
Het |
| Prrc2a |
A |
T |
17: 35,378,189 (GRCm39) |
F440L |
unknown |
Het |
| Prrc2c |
T |
C |
1: 162,537,213 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,409,158 (GRCm39) |
L247* |
probably null |
Het |
| Scfd2 |
C |
T |
5: 74,692,025 (GRCm39) |
V86I |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,996,382 (GRCm39) |
T443A |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,195,221 (GRCm39) |
V138A |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 122,963,950 (GRCm39) |
D524G |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,571,737 (GRCm39) |
T220A |
probably benign |
Het |
| Vmn2r17 |
G |
A |
5: 109,582,150 (GRCm39) |
S513N |
probably damaging |
Het |
| Zfp84 |
C |
T |
7: 29,476,514 (GRCm39) |
S402L |
probably damaging |
Het |
| Zfta |
A |
T |
19: 7,397,524 (GRCm39) |
R24W |
probably damaging |
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 |
|
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 |
|
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'- AAAGCCCTCTCTTTAGAAGTTTCTC -3'
(R):5'- AAGCTGGCTGAGATTCACAAC -3'
Sequencing Primer
(F):5'- GAAGTTTCTCACTCCCCATTTTTATG -3'
(R):5'- TGGCTGAGATTCACAACATAAAGGTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation