Incidental Mutation 'R6893:Nemf'
ID |
538172 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nemf
|
Ensembl Gene |
ENSMUSG00000020982 |
Gene Name |
nuclear export mediator factor |
Synonyms |
Sdccag1, 1500011I12Rik, 4933405E14Rik |
MMRRC Submission |
044987-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6893 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
69358315-69403975 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69399110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 140
(V140A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152476
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021368]
[ENSMUST00000220484]
[ENSMUST00000222065]
|
AlphaFold |
Q8CCP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021368
AA Change: V182A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000021368 Gene: ENSMUSG00000020982 AA Change: V182A
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 benign
Transcript: ENSMUST00000220484
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222065
AA Change: V140A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.7%
- 20x: 95.2%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
T |
A |
8: 25,368,770 (GRCm39) |
D538V |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,011,709 (GRCm39) |
I804T |
probably benign |
Het |
Amy1 |
T |
C |
3: 113,357,281 (GRCm39) |
E186G |
probably benign |
Het |
Best1 |
A |
G |
19: 9,974,446 (GRCm39) |
Y33H |
probably damaging |
Het |
Cacna1s |
C |
A |
1: 136,005,431 (GRCm39) |
N405K |
probably benign |
Het |
Casp7 |
T |
C |
19: 56,421,741 (GRCm39) |
Y60H |
probably damaging |
Het |
Ccdc61 |
T |
C |
7: 18,626,488 (GRCm39) |
N367S |
possibly damaging |
Het |
Cnksr3 |
A |
T |
10: 7,085,129 (GRCm39) |
|
probably null |
Het |
Col14a1 |
A |
C |
15: 55,308,044 (GRCm39) |
|
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,323,784 (GRCm39) |
K424* |
probably null |
Het |
Dnai3 |
T |
C |
3: 145,786,184 (GRCm39) |
E366G |
probably damaging |
Het |
Dpep3 |
T |
C |
8: 106,700,474 (GRCm39) |
K411E |
probably benign |
Het |
Ebf2 |
T |
A |
14: 67,475,008 (GRCm39) |
V81E |
probably benign |
Het |
Ehbp1 |
G |
T |
11: 21,964,945 (GRCm39) |
T1084K |
probably damaging |
Het |
Fastkd2 |
C |
T |
1: 63,770,953 (GRCm39) |
A103V |
possibly damaging |
Het |
Gtf3c2 |
T |
C |
5: 31,323,722 (GRCm39) |
K525E |
probably benign |
Het |
Hdac2 |
A |
G |
10: 36,873,003 (GRCm39) |
E287G |
probably damaging |
Het |
Ifi207 |
T |
A |
1: 173,555,208 (GRCm39) |
T832S |
possibly damaging |
Het |
Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
Lef1 |
A |
G |
3: 130,909,149 (GRCm39) |
D55G |
possibly damaging |
Het |
Lipo2 |
G |
T |
19: 33,698,407 (GRCm39) |
Y323* |
probably null |
Het |
Mettl24 |
C |
T |
10: 40,613,794 (GRCm39) |
R178C |
probably damaging |
Het |
Naa80 |
A |
G |
9: 107,460,225 (GRCm39) |
E40G |
probably damaging |
Het |
Ndrg4 |
C |
A |
8: 96,433,229 (GRCm39) |
C66* |
probably null |
Het |
Nid2 |
T |
A |
14: 19,839,855 (GRCm39) |
F815I |
probably benign |
Het |
Or4c108 |
A |
G |
2: 88,804,143 (GRCm39) |
F31L |
probably benign |
Het |
Or5b106 |
A |
C |
19: 13,123,106 (GRCm39) |
S306A |
probably benign |
Het |
Or8b12c |
A |
C |
9: 37,716,141 (GRCm39) |
*311C |
probably null |
Het |
Or8b3b |
A |
T |
9: 38,584,355 (GRCm39) |
N141K |
possibly damaging |
Het |
Or8k30 |
A |
G |
2: 86,339,136 (GRCm39) |
E111G |
probably damaging |
Het |
Pcdhga3 |
T |
C |
18: 37,809,598 (GRCm39) |
S684P |
probably benign |
Het |
Plch1 |
A |
T |
3: 63,660,562 (GRCm39) |
C352* |
probably null |
Het |
Plscr2 |
G |
A |
9: 92,172,757 (GRCm39) |
V139I |
probably benign |
Het |
Ppa1 |
T |
A |
10: 61,508,182 (GRCm39) |
C270S |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,844,540 (GRCm39) |
M399L |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,356,098 (GRCm39) |
V212A |
possibly damaging |
Het |
Serpina3b |
A |
G |
12: 104,099,285 (GRCm39) |
K267E |
probably benign |
Het |
Shroom3 |
A |
G |
5: 93,090,063 (GRCm39) |
T938A |
probably damaging |
Het |
Specc1 |
A |
C |
11: 62,023,279 (GRCm39) |
S115R |
probably benign |
Het |
Stim2 |
C |
T |
5: 54,210,787 (GRCm39) |
T74I |
probably benign |
Het |
Sult6b2 |
T |
A |
6: 142,750,025 (GRCm39) |
D31V |
possibly damaging |
Het |
Tbc1d24 |
A |
T |
17: 24,401,492 (GRCm39) |
W406R |
probably damaging |
Het |
Tmprss11b |
A |
G |
5: 86,811,245 (GRCm39) |
|
probably null |
Het |
Trappc9 |
A |
G |
15: 72,797,499 (GRCm39) |
Y575H |
possibly damaging |
Het |
Trim63 |
C |
T |
4: 134,050,412 (GRCm39) |
T232M |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,598,180 (GRCm39) |
S19578T |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Xpo4 |
T |
A |
14: 57,819,767 (GRCm39) |
E1139D |
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 |
|
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 |
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'- GTAGCTATGCAGTTCCTTGTTC -3'
(R):5'- AACTTGGATTTAAGACTTGGGTTTC -3'
Sequencing Primer
(F):5'- ATGGAAGTGCTGTCTCAC -3'
(R):5'- AAGTGCTCTTAACCTCAGGGC -3'
|
Posted On |
2018-11-06 |