Incidental Mutation 'R5310:Eif4enif1'
ID |
404797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif4enif1
|
Ensembl Gene |
ENSMUSG00000020454 |
Gene Name |
eukaryotic translation initiation factor 4E nuclear import factor 1 |
Synonyms |
D11Ertd166e, 2610509L04Rik, Clast4, A930019J01Rik |
MMRRC Submission |
042893-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.494)
|
Stock # |
R5310 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
3152392-3194588 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3192687 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 838
(H838Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020734]
[ENSMUST00000110048]
[ENSMUST00000110049]
[ENSMUST00000120721]
[ENSMUST00000135223]
[ENSMUST00000179770]
|
AlphaFold |
Q9EST3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020734
AA Change: H814Q
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000020734 Gene: ENSMUSG00000020454 AA Change: H814Q
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
29 |
688 |
1.2e-189 |
PFAM |
low complexity region
|
835 |
851 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110048
AA Change: H814Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105675 Gene: ENSMUSG00000020454 AA Change: H814Q
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
29 |
688 |
1.2e-189 |
PFAM |
low complexity region
|
835 |
851 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110049
AA Change: H838Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105676 Gene: ENSMUSG00000020454 AA Change: H838Q
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
29 |
712 |
2.7e-184 |
PFAM |
low complexity region
|
859 |
875 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120721
AA Change: H663Q
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000112550 Gene: ENSMUSG00000020454 AA Change: H663Q
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
29 |
99 |
3.6e-29 |
PFAM |
Pfam:EIF4E-T
|
98 |
327 |
5.1e-41 |
PFAM |
Pfam:EIF4E-T
|
282 |
537 |
7.7e-30 |
PFAM |
low complexity region
|
684 |
700 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127950
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135223
|
SMART Domains |
Protein: ENSMUSP00000122912 Gene: ENSMUSG00000020454
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
1 |
239 |
1.5e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147534
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179770
AA Change: H838Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000136768 Gene: ENSMUSG00000020454 AA Change: H838Q
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
29 |
710 |
4.3e-160 |
PFAM |
low complexity region
|
859 |
875 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159304
|
SMART Domains |
Protein: ENSMUSP00000125536 Gene: ENSMUSG00000020457
Domain | Start | End | E-Value | Type |
Pfam:TGS
|
13 |
58 |
5.7e-14 |
PFAM |
|
Meta Mutation Damage Score |
0.0603 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
Validation Efficiency |
100% (74/74) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
T |
7: 119,931,839 (GRCm39) |
I31L |
possibly damaging |
Het |
Abca17 |
T |
C |
17: 24,500,204 (GRCm39) |
K1329R |
probably benign |
Het |
Acap2 |
A |
G |
16: 30,952,427 (GRCm39) |
Y197H |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,624,809 (GRCm39) |
V3720A |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,592,350 (GRCm39) |
S870T |
possibly damaging |
Het |
Anapc4 |
A |
G |
5: 53,016,501 (GRCm39) |
E493G |
probably benign |
Het |
Ap2a1 |
A |
G |
7: 44,555,489 (GRCm39) |
|
probably null |
Het |
Arhgef38 |
A |
G |
3: 132,822,227 (GRCm39) |
L179P |
probably damaging |
Het |
Bicral |
T |
C |
17: 47,124,909 (GRCm39) |
D630G |
possibly damaging |
Het |
Ccdc97 |
A |
T |
7: 25,415,201 (GRCm39) |
L154Q |
probably damaging |
Het |
Cd40 |
T |
C |
2: 164,905,483 (GRCm39) |
|
probably null |
Het |
Celsr1 |
T |
A |
15: 85,810,423 (GRCm39) |
N2155I |
possibly damaging |
Het |
Cemip |
A |
T |
7: 83,641,241 (GRCm39) |
L261H |
probably damaging |
Het |
Cep57 |
G |
A |
9: 13,730,164 (GRCm39) |
H98Y |
probably damaging |
Het |
Chrna7 |
A |
T |
7: 62,755,805 (GRCm39) |
L247Q |
probably damaging |
Het |
Cyp2c40 |
T |
A |
19: 39,766,474 (GRCm39) |
M374L |
probably damaging |
Het |
Cyp4f13 |
T |
C |
17: 33,144,795 (GRCm39) |
D372G |
probably damaging |
Het |
Dazl |
C |
A |
17: 50,588,311 (GRCm39) |
S288I |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,311,474 (GRCm39) |
F1818L |
probably damaging |
Het |
Echdc1 |
T |
C |
10: 29,210,204 (GRCm39) |
V143A |
possibly damaging |
Het |
Erich3 |
A |
T |
3: 154,469,217 (GRCm39) |
D1223V |
probably damaging |
Het |
Fbxl2 |
A |
G |
9: 113,815,576 (GRCm39) |
I229T |
possibly damaging |
Het |
Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
Ggnbp2 |
A |
G |
11: 84,760,794 (GRCm39) |
M1T |
probably null |
Het |
Glb1l2 |
C |
T |
9: 26,708,162 (GRCm39) |
|
probably benign |
Het |
Gnl2 |
A |
G |
4: 124,946,633 (GRCm39) |
K618R |
probably benign |
Het |
Greb1 |
A |
T |
12: 16,766,760 (GRCm39) |
I346K |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Gtse1 |
A |
G |
15: 85,757,993 (GRCm39) |
Q533R |
probably benign |
Het |
Hemgn |
A |
G |
4: 46,403,927 (GRCm39) |
S23P |
possibly damaging |
Het |
Htr6 |
G |
T |
4: 138,788,977 (GRCm39) |
H359Q |
probably damaging |
Het |
Ifit1 |
T |
C |
19: 34,626,204 (GRCm39) |
F447L |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,315,684 (GRCm39) |
Y118C |
possibly damaging |
Het |
Khk |
G |
A |
5: 31,084,373 (GRCm39) |
V118M |
probably benign |
Het |
Klra17 |
T |
A |
6: 129,845,671 (GRCm39) |
K181M |
probably damaging |
Het |
Lbh |
T |
C |
17: 73,228,287 (GRCm39) |
|
probably null |
Het |
Lmo2 |
T |
C |
2: 103,806,445 (GRCm39) |
I108T |
probably damaging |
Het |
Maco1 |
T |
C |
4: 134,564,330 (GRCm39) |
|
probably benign |
Het |
Mgat5 |
T |
A |
1: 127,315,251 (GRCm39) |
|
probably null |
Het |
Mink1 |
T |
C |
11: 70,498,169 (GRCm39) |
V525A |
probably benign |
Het |
Myo10 |
C |
A |
15: 25,778,164 (GRCm39) |
|
probably null |
Het |
Nlrp2 |
T |
C |
7: 5,328,007 (GRCm39) |
N682S |
probably benign |
Het |
Nr2e3 |
G |
A |
9: 59,856,617 (GRCm39) |
|
probably benign |
Het |
Or5p5 |
T |
C |
7: 107,414,171 (GRCm39) |
C129R |
probably damaging |
Het |
Or6b2b |
T |
C |
1: 92,418,758 (GRCm39) |
T240A |
probably damaging |
Het |
Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
Pfas |
G |
A |
11: 68,878,847 (GRCm39) |
S1319F |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,842,887 (GRCm39) |
K2024R |
probably damaging |
Het |
Pld4 |
G |
A |
12: 112,735,046 (GRCm39) |
C501Y |
probably damaging |
Het |
Psg16 |
C |
T |
7: 16,824,560 (GRCm39) |
R115W |
probably damaging |
Het |
Rab3gap1 |
G |
A |
1: 127,870,110 (GRCm39) |
|
probably null |
Het |
Rimkla |
C |
A |
4: 119,335,049 (GRCm39) |
K111N |
probably damaging |
Het |
Rrm2b |
T |
C |
15: 37,927,571 (GRCm39) |
E113G |
probably damaging |
Het |
Rspry1 |
C |
T |
8: 95,349,813 (GRCm39) |
T67I |
probably benign |
Het |
Skint6 |
C |
A |
4: 113,041,965 (GRCm39) |
E292* |
probably null |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Slc13a1 |
A |
G |
6: 24,134,373 (GRCm39) |
M170T |
probably benign |
Het |
Slc15a5 |
T |
C |
6: 138,050,034 (GRCm39) |
N127S |
probably benign |
Het |
Slc39a10 |
G |
A |
1: 46,875,285 (GRCm39) |
H6Y |
probably damaging |
Het |
Spata31e2 |
A |
C |
1: 26,724,169 (GRCm39) |
V337G |
probably benign |
Het |
Sugct |
A |
T |
13: 17,427,145 (GRCm39) |
C338* |
probably null |
Het |
Tbk1 |
A |
T |
10: 121,391,956 (GRCm39) |
M486K |
probably benign |
Het |
Terf1 |
A |
T |
1: 15,875,909 (GRCm39) |
E3V |
probably damaging |
Het |
Thoc5 |
T |
A |
11: 4,860,648 (GRCm39) |
Y246N |
probably damaging |
Het |
Tmem167b |
G |
A |
3: 108,469,415 (GRCm39) |
|
probably benign |
Het |
Tmtc1 |
T |
A |
6: 148,256,910 (GRCm39) |
|
probably benign |
Het |
Zfp322a |
A |
T |
13: 23,541,532 (GRCm39) |
M70K |
possibly damaging |
Het |
Zfp979 |
A |
T |
4: 147,698,375 (GRCm39) |
H111Q |
possibly damaging |
Het |
|
Other mutations in Eif4enif1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01139:Eif4enif1
|
APN |
11 |
3,171,143 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02237:Eif4enif1
|
APN |
11 |
3,177,876 (GRCm39) |
nonsense |
probably null |
|
IGL02372:Eif4enif1
|
APN |
11 |
3,179,986 (GRCm39) |
missense |
probably benign |
0.09 |
PIT4283001:Eif4enif1
|
UTSW |
11 |
3,184,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R0079:Eif4enif1
|
UTSW |
11 |
3,192,676 (GRCm39) |
nonsense |
probably null |
|
R1177:Eif4enif1
|
UTSW |
11 |
3,179,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R1220:Eif4enif1
|
UTSW |
11 |
3,189,493 (GRCm39) |
splice site |
probably benign |
|
R1511:Eif4enif1
|
UTSW |
11 |
3,186,278 (GRCm39) |
missense |
probably benign |
0.00 |
R1675:Eif4enif1
|
UTSW |
11 |
3,165,686 (GRCm39) |
missense |
probably benign |
0.02 |
R1908:Eif4enif1
|
UTSW |
11 |
3,177,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R1940:Eif4enif1
|
UTSW |
11 |
3,193,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R2173:Eif4enif1
|
UTSW |
11 |
3,192,367 (GRCm39) |
splice site |
probably null |
|
R2215:Eif4enif1
|
UTSW |
11 |
3,177,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R2517:Eif4enif1
|
UTSW |
11 |
3,171,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2871:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2871:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R2873:Eif4enif1
|
UTSW |
11 |
3,192,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R3147:Eif4enif1
|
UTSW |
11 |
3,194,003 (GRCm39) |
splice site |
probably null |
|
R4195:Eif4enif1
|
UTSW |
11 |
3,193,186 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4196:Eif4enif1
|
UTSW |
11 |
3,193,186 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4708:Eif4enif1
|
UTSW |
11 |
3,170,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R4755:Eif4enif1
|
UTSW |
11 |
3,194,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R5546:Eif4enif1
|
UTSW |
11 |
3,193,989 (GRCm39) |
missense |
probably damaging |
0.99 |
R5816:Eif4enif1
|
UTSW |
11 |
3,192,401 (GRCm39) |
missense |
probably benign |
0.13 |
R6018:Eif4enif1
|
UTSW |
11 |
3,192,481 (GRCm39) |
missense |
probably damaging |
0.97 |
R6036:Eif4enif1
|
UTSW |
11 |
3,189,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6036:Eif4enif1
|
UTSW |
11 |
3,189,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6267:Eif4enif1
|
UTSW |
11 |
3,177,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6514:Eif4enif1
|
UTSW |
11 |
3,190,996 (GRCm39) |
missense |
probably null |
0.01 |
R6638:Eif4enif1
|
UTSW |
11 |
3,192,463 (GRCm39) |
missense |
probably damaging |
0.96 |
R7040:Eif4enif1
|
UTSW |
11 |
3,184,040 (GRCm39) |
missense |
probably benign |
0.33 |
R7232:Eif4enif1
|
UTSW |
11 |
3,165,678 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7385:Eif4enif1
|
UTSW |
11 |
3,170,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R7478:Eif4enif1
|
UTSW |
11 |
3,177,709 (GRCm39) |
nonsense |
probably null |
|
R7749:Eif4enif1
|
UTSW |
11 |
3,192,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R8381:Eif4enif1
|
UTSW |
11 |
3,177,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R9029:Eif4enif1
|
UTSW |
11 |
3,174,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R9622:Eif4enif1
|
UTSW |
11 |
3,165,714 (GRCm39) |
missense |
probably benign |
0.26 |
R9646:Eif4enif1
|
UTSW |
11 |
3,170,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R9694:Eif4enif1
|
UTSW |
11 |
3,170,384 (GRCm39) |
missense |
probably damaging |
0.98 |
R9747:Eif4enif1
|
UTSW |
11 |
3,163,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCGGTCTTCATGTTCCACC -3'
(R):5'- ACTGGATTGGACTCACTACTTAG -3'
Sequencing Primer
(F):5'- TCTCCCAGACCAGCCGTTATAC -3'
(R):5'- GATTGGACTCACTACTTAGGTAGAAG -3'
|
Posted On |
2016-07-22 |