Incidental Mutation 'R0079:Eif4enif1'
| ID |
19616 |
| 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 |
038366-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.519)
|
| Stock # |
R0079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3152392-3194588 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 3192676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 835
(Q835*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020734]
[ENSMUST00000110048]
[ENSMUST00000110049]
[ENSMUST00000120721]
[ENSMUST00000135223]
[ENSMUST00000179770]
|
| AlphaFold |
Q9EST3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020734
AA Change: Q811*
|
| SMART Domains |
Protein: ENSMUSP00000020734
Gene: ENSMUSG00000020454
AA Change: Q811*
| 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 null
Transcript: ENSMUST00000110048
AA Change: Q811*
|
| SMART Domains |
Protein: ENSMUSP00000105675
Gene: ENSMUSG00000020454
AA Change: Q811*
| 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 null
Transcript: ENSMUST00000110049
AA Change: Q835*
|
| SMART Domains |
Protein: ENSMUSP00000105676
Gene: ENSMUSG00000020454
AA Change: Q835*
| 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 null
Transcript: ENSMUST00000120721
AA Change: Q660*
|
| SMART Domains |
Protein: ENSMUSP00000112550
Gene: ENSMUSG00000020454
AA Change: Q660*
| 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 null
Transcript: ENSMUST00000179770
AA Change: Q835*
|
| SMART Domains |
Protein: ENSMUSP00000136768
Gene: ENSMUSG00000020454
AA Change: Q835*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.4%
- 20x: 90.7%
|
| Validation Efficiency |
78% (155/199) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
A |
12: 17,057,183 (GRCm39) |
T105S |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,243,493 (GRCm39) |
M1785I |
probably benign |
Het |
| Adamts3 |
G |
C |
5: 89,840,912 (GRCm39) |
P804A |
probably benign |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
G |
T |
3: 126,728,264 (GRCm39) |
D776E |
probably benign |
Het |
| Cep152 |
T |
A |
2: 125,460,373 (GRCm39) |
K193M |
possibly damaging |
Het |
| Cep55 |
C |
T |
19: 38,048,769 (GRCm39) |
L142F |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,470,206 (GRCm39) |
Y1884C |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,471,034 (GRCm39) |
L890P |
probably damaging |
Het |
| Cul9 |
C |
A |
17: 46,848,589 (GRCm39) |
E716* |
probably null |
Het |
| Cytip |
T |
A |
2: 58,050,006 (GRCm39) |
D21V |
probably benign |
Het |
| Denr |
T |
G |
5: 124,062,908 (GRCm39) |
F137C |
probably damaging |
Het |
| Dhrs3 |
A |
T |
4: 144,646,618 (GRCm39) |
S197C |
probably damaging |
Het |
| Egr4 |
A |
T |
6: 85,489,751 (GRCm39) |
M103K |
probably damaging |
Het |
| Gckr |
A |
G |
5: 31,463,883 (GRCm39) |
I268V |
probably benign |
Het |
| Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
| Hpd |
T |
C |
5: 123,319,544 (GRCm39) |
Y8C |
probably damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,338,889 (GRCm39) |
F16I |
probably benign |
Het |
| Ildr2 |
A |
T |
1: 166,135,289 (GRCm39) |
Y347F |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,976,729 (GRCm39) |
D186G |
probably damaging |
Het |
| Khdrbs2 |
A |
G |
1: 32,558,996 (GRCm39) |
|
probably null |
Het |
| L1cam |
G |
T |
X: 72,913,364 (GRCm39) |
P16H |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,746,768 (GRCm39) |
H161R |
probably damaging |
Het |
| Mctp2 |
T |
A |
7: 71,863,864 (GRCm39) |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mitf |
A |
C |
6: 97,973,401 (GRCm39) |
M220L |
probably benign |
Het |
| Mrpl21 |
T |
C |
19: 3,334,807 (GRCm39) |
Y50H |
possibly damaging |
Het |
| Myh1 |
T |
A |
11: 67,104,237 (GRCm39) |
L968Q |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,925,502 (GRCm39) |
K18E |
possibly damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
A |
7: 5,330,729 (GRCm39) |
T556S |
possibly damaging |
Het |
| Nsmf |
T |
C |
2: 24,949,096 (GRCm39) |
|
probably benign |
Het |
| Nsun7 |
C |
T |
5: 66,452,856 (GRCm39) |
P558S |
probably benign |
Het |
| Or10h5 |
G |
A |
17: 33,435,079 (GRCm39) |
R80C |
probably benign |
Het |
| Or1e34 |
T |
G |
11: 73,778,563 (GRCm39) |
I212L |
probably benign |
Het |
| Or56a3 |
T |
C |
7: 104,735,135 (GRCm39) |
S71P |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,698 (GRCm39) |
Y159F |
possibly damaging |
Het |
| Phf19 |
T |
C |
2: 34,785,966 (GRCm39) |
N501S |
probably benign |
Het |
| Ranbp17 |
A |
C |
11: 33,450,682 (GRCm39) |
I85S |
probably damaging |
Het |
| Robo1 |
A |
G |
16: 72,730,230 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
A |
G |
1: 8,749,286 (GRCm39) |
|
probably benign |
Het |
| Snx15 |
A |
G |
19: 6,173,943 (GRCm39) |
L58P |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,110,831 (GRCm39) |
C134F |
probably damaging |
Het |
| Strip2 |
T |
C |
6: 29,920,532 (GRCm39) |
|
probably null |
Het |
| Taf1d |
C |
T |
9: 15,221,240 (GRCm39) |
A182V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,796,380 (GRCm39) |
V475A |
possibly damaging |
Het |
| Tent4b |
T |
A |
8: 88,926,631 (GRCm39) |
Y14N |
possibly damaging |
Het |
| Tgds |
A |
T |
14: 118,353,647 (GRCm39) |
H223Q |
possibly damaging |
Het |
| Thoc2 |
G |
T |
X: 40,952,985 (GRCm39) |
S230Y |
probably benign |
Het |
| Tm9sf4 |
T |
A |
2: 153,033,065 (GRCm39) |
V290E |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,965,883 (GRCm39) |
L97Q |
probably damaging |
Het |
| Trnau1ap |
A |
G |
4: 132,041,656 (GRCm39) |
Y145H |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,970,048 (GRCm39) |
D780E |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,305,735 (GRCm39) |
S46T |
possibly damaging |
Het |
| Vmn1r20 |
A |
T |
6: 57,408,777 (GRCm39) |
R34S |
possibly damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,622,668 (GRCm39) |
M805T |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,198,213 (GRCm39) |
R1225C |
probably damaging |
Het |
| Zfp341 |
T |
A |
2: 154,466,914 (GRCm39) |
Y94* |
probably null |
Het |
| Zfp641 |
T |
C |
15: 98,186,970 (GRCm39) |
N218D |
probably benign |
Het |
| Zscan22 |
T |
C |
7: 12,638,014 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CAGGAAGGAAAACACCTACCTTGGC -3'
(R):5'- TGTCTATCCCAGGAGGAAGCACAC -3'
Sequencing Primer
(F):5'- ACCTTGGCATCCCCAGTC -3'
(R):5'- ccacctgcctctgcttc -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation