Incidental Mutation 'R1177:Eif4enif1'
ID |
100073 |
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 |
039249-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.519)
|
Stock # |
R1177 (G1)
|
Quality Score |
189 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
3152392-3194588 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3179902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 274
(V274A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020734]
[ENSMUST00000110048]
[ENSMUST00000110049]
[ENSMUST00000120721]
[ENSMUST00000135223]
[ENSMUST00000179770]
|
AlphaFold |
Q9EST3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020734
AA Change: V437A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020734 Gene: ENSMUSG00000020454 AA Change: V437A
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: V437A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105675 Gene: ENSMUSG00000020454 AA Change: V437A
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: V437A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105676 Gene: ENSMUSG00000020454 AA Change: V437A
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 damaging
Transcript: ENSMUST00000120721
AA Change: V274A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112550 Gene: ENSMUSG00000020454 AA Change: V274A
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 |
noncoding transcript
Transcript: ENSMUST00000132425
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135223
AA Change: V36A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000122912 Gene: ENSMUSG00000020454 AA Change: V36A
Domain | Start | End | E-Value | Type |
Pfam:EIF4E-T
|
1 |
239 |
1.5e-16 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179770
AA Change: V437A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000136768 Gene: ENSMUSG00000020454 AA Change: V437A
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 |
noncoding transcript
Transcript: ENSMUST00000143770
|
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 |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 94.9%
- 20x: 87.7%
|
Validation Efficiency |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bbs7 |
A |
T |
3: 36,664,329 (GRCm39) |
|
probably null |
Het |
Bivm |
G |
A |
1: 44,182,123 (GRCm39) |
V444I |
probably benign |
Het |
Cers4 |
A |
G |
8: 4,566,931 (GRCm39) |
I78V |
probably null |
Het |
Chgb |
A |
G |
2: 132,635,390 (GRCm39) |
Y444C |
possibly damaging |
Het |
Col7a1 |
T |
C |
9: 108,791,509 (GRCm39) |
V1161A |
unknown |
Het |
Dpp6 |
A |
G |
5: 27,868,471 (GRCm39) |
D478G |
possibly damaging |
Het |
Fkrp |
T |
C |
7: 16,544,452 (GRCm39) |
E470G |
probably damaging |
Het |
Lrrc8c |
T |
C |
5: 105,754,702 (GRCm39) |
I159T |
probably benign |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Map3k21 |
A |
T |
8: 126,671,577 (GRCm39) |
Q955L |
probably benign |
Het |
Mast3 |
A |
G |
8: 71,232,968 (GRCm39) |
S1115P |
probably damaging |
Het |
Mga |
T |
C |
2: 119,756,927 (GRCm39) |
F1048S |
probably damaging |
Het |
Mthfd1l |
A |
C |
10: 3,935,661 (GRCm39) |
K212T |
possibly damaging |
Het |
Myo5b |
G |
A |
18: 74,777,143 (GRCm39) |
R401H |
probably damaging |
Het |
Naip1 |
C |
T |
13: 100,563,572 (GRCm39) |
S531N |
possibly damaging |
Het |
Nlrp1a |
A |
G |
11: 70,998,547 (GRCm39) |
V884A |
probably damaging |
Het |
Nop58 |
T |
A |
1: 59,740,091 (GRCm39) |
M161K |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,109,310 (GRCm39) |
T1618A |
probably benign |
Het |
Or10d4 |
A |
G |
9: 39,580,937 (GRCm39) |
R195G |
probably benign |
Het |
Or2b4 |
A |
T |
17: 38,116,843 (GRCm39) |
E269V |
probably benign |
Het |
Or4c105 |
A |
G |
2: 88,647,704 (GRCm39) |
Y63C |
probably benign |
Het |
Ppp4r4 |
G |
A |
12: 103,542,582 (GRCm39) |
A115T |
possibly damaging |
Het |
Rag1 |
T |
C |
2: 101,472,623 (GRCm39) |
R840G |
probably benign |
Het |
Slc44a2 |
A |
T |
9: 21,259,879 (GRCm39) |
Q629L |
probably benign |
Het |
Slc5a6 |
A |
G |
5: 31,196,646 (GRCm39) |
|
probably null |
Het |
Spag1 |
A |
T |
15: 36,234,913 (GRCm39) |
T859S |
probably benign |
Het |
Sv2c |
G |
T |
13: 96,126,271 (GRCm39) |
A327E |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tlr2 |
A |
G |
3: 83,746,041 (GRCm39) |
I14T |
probably benign |
Het |
Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,065,028 (GRCm39) |
V1688A |
possibly damaging |
Het |
Zfhx4 |
ACCTCCTCCTCCTCCTCCTCC |
ACCTCCTCCTCCTCCTCC |
3: 5,465,891 (GRCm39) |
|
probably benign |
Het |
Zfp94 |
T |
C |
7: 24,002,953 (GRCm39) |
Y163C |
probably 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 |
|
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 |
R5310:Eif4enif1
|
UTSW |
11 |
3,192,687 (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 |
|
Posted On |
2014-01-15 |