Incidental Mutation 'R2869:Eif4enif1'
ID |
266452 |
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 |
040457-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.494)
|
Stock # |
R2869 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
3152392-3194588 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3192586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 805
(P805S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136768
(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: P781S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020734 Gene: ENSMUSG00000020454 AA Change: P781S
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: P781S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105675 Gene: ENSMUSG00000020454 AA Change: P781S
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: P805S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105676 Gene: ENSMUSG00000020454 AA Change: P805S
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: P630S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112550 Gene: ENSMUSG00000020454 AA Change: P630S
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: P805S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136768 Gene: ENSMUSG00000020454 AA Change: P805S
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 |
0.1682 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2 |
A |
G |
1: 59,250,296 (GRCm39) |
S483P |
probably damaging |
Het |
C030034I22Rik |
T |
A |
17: 69,725,106 (GRCm39) |
|
noncoding transcript |
Het |
Carmil1 |
G |
A |
13: 24,229,051 (GRCm39) |
|
silent |
Het |
Ccl27a |
C |
T |
4: 41,769,640 (GRCm39) |
R73Q |
probably benign |
Het |
Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
Fan1 |
A |
G |
7: 64,012,938 (GRCm39) |
I668T |
probably benign |
Het |
Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Homo |
Gbp11 |
C |
T |
5: 105,478,866 (GRCm39) |
D191N |
probably benign |
Het |
Ggt6 |
A |
T |
11: 72,328,187 (GRCm39) |
N229I |
probably benign |
Het |
Gm26902 |
T |
A |
19: 34,452,210 (GRCm39) |
H106L |
probably benign |
Het |
Gm37340 |
G |
A |
2: 6,955,739 (GRCm39) |
|
probably benign |
Het |
Gm9874 |
A |
T |
17: 30,704,763 (GRCm39) |
|
probably benign |
Het |
Gria2 |
G |
A |
3: 80,609,799 (GRCm39) |
T670I |
probably damaging |
Het |
Gsdme |
A |
T |
6: 50,185,157 (GRCm39) |
C432* |
probably null |
Het |
Habp2 |
T |
A |
19: 56,276,423 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,614,467 (GRCm39) |
V1313D |
possibly damaging |
Het |
Kcnb1 |
A |
G |
2: 166,947,855 (GRCm39) |
L331P |
probably damaging |
Het |
Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Homo |
Krt13 |
A |
G |
11: 100,008,475 (GRCm39) |
S421P |
unknown |
Het |
Lactbl1 |
G |
A |
4: 136,354,097 (GRCm39) |
C37Y |
probably damaging |
Het |
Lzts2 |
C |
A |
19: 45,012,534 (GRCm39) |
S321* |
probably null |
Het |
Marchf8 |
C |
T |
6: 116,378,106 (GRCm39) |
|
probably benign |
Het |
Meikin |
T |
C |
11: 54,264,333 (GRCm39) |
V103A |
possibly damaging |
Het |
Mki67 |
G |
A |
7: 135,309,878 (GRCm39) |
P191L |
probably benign |
Het |
Mlxip |
A |
G |
5: 123,590,730 (GRCm39) |
M878V |
probably benign |
Het |
Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nav1 |
A |
G |
1: 135,388,495 (GRCm39) |
|
silent |
Het |
Nbn |
T |
A |
4: 15,963,810 (GRCm39) |
D70E |
probably damaging |
Het |
Nell1 |
A |
T |
7: 49,899,405 (GRCm39) |
|
probably benign |
Het |
Nomo1 |
C |
A |
7: 45,696,361 (GRCm39) |
T293N |
probably damaging |
Het |
Notum |
A |
G |
11: 120,551,022 (GRCm39) |
V48A |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,957,671 (GRCm39) |
I334L |
probably benign |
Het |
Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
Or4k2 |
T |
C |
14: 50,423,811 (GRCm39) |
T288A |
probably benign |
Het |
Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
Ostc |
T |
C |
3: 130,497,157 (GRCm39) |
N80S |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,387,702 (GRCm39) |
N300K |
possibly damaging |
Het |
Palmd |
T |
C |
3: 116,717,400 (GRCm39) |
R366G |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
Pes1 |
C |
A |
11: 3,926,834 (GRCm39) |
T372K |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,736,309 (GRCm39) |
D550V |
probably benign |
Het |
Ppp1r7 |
T |
A |
1: 93,285,585 (GRCm39) |
|
probably null |
Het |
Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Homo |
Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
Psmd13 |
A |
T |
7: 140,466,968 (GRCm39) |
T116S |
probably damaging |
Het |
Pzp |
A |
T |
6: 128,462,519 (GRCm39) |
|
probably null |
Het |
Serinc2 |
A |
G |
4: 130,159,005 (GRCm39) |
S29P |
probably damaging |
Het |
Slc39a8 |
T |
A |
3: 135,592,554 (GRCm39) |
|
probably null |
Het |
Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
St7 |
C |
T |
6: 17,819,276 (GRCm39) |
P60L |
probably damaging |
Het |
Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
Taf6l |
A |
G |
19: 8,755,992 (GRCm39) |
|
probably benign |
Het |
Tafa2 |
A |
T |
10: 123,540,270 (GRCm39) |
H42L |
possibly damaging |
Het |
Tnni3k |
C |
T |
3: 154,644,387 (GRCm39) |
|
probably null |
Het |
Tprg1 |
T |
C |
16: 25,231,590 (GRCm39) |
W189R |
probably damaging |
Het |
Trim32 |
A |
G |
4: 65,532,694 (GRCm39) |
D417G |
probably damaging |
Het |
Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
Ybx3 |
G |
A |
6: 131,347,376 (GRCm39) |
A253V |
probably damaging |
Het |
Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
Het |
Zzz3 |
T |
A |
3: 152,152,481 (GRCm39) |
|
silent |
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 |
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 |
PCR Primer
(F):5'- AGAACCTGCTGTCATCCAATCC -3'
(R):5'- GTGAGACTGGATTGGACTCAC -3'
Sequencing Primer
(F):5'- CAATACTGATCAAGACTCTTCTACG -3'
(R):5'- GAGACTGGATTGGACTCACTACTTAG -3'
|
Posted On |
2015-02-18 |