Incidental Mutation 'R9646:Eif4enif1'
| ID |
726741 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.519)
|
| Stock # |
R9646 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
3152392-3194588 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3170280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 111
(V111A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020734]
[ENSMUST00000110048]
[ENSMUST00000110049]
[ENSMUST00000120721]
[ENSMUST00000125637]
[ENSMUST00000179770]
|
| AlphaFold |
Q9EST3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020734
AA Change: V111A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020734
Gene: ENSMUSG00000020454
AA Change: V111A
| 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: V111A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105675
Gene: ENSMUSG00000020454
AA Change: V111A
| 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: V111A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105676
Gene: ENSMUSG00000020454
AA Change: V111A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112550
Gene: ENSMUSG00000020454
| 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 |
probably damaging
Transcript: ENSMUST00000125637
AA Change: V111A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118527
Gene: ENSMUSG00000020454
AA Change: V111A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EIF4E-T
|
29 |
194 |
1.5e-73 |
PFAM |
|
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179770
AA Change: V111A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136768
Gene: ENSMUSG00000020454
AA Change: V111A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EIF4E-T
|
29 |
710 |
4.3e-160 |
PFAM |
|
low complexity region
|
859 |
875 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,544,926 (GRCm39) |
I723N |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,075,648 (GRCm39) |
R682Q |
unknown |
Het |
| Ankrd42 |
A |
T |
7: 92,273,257 (GRCm39) |
D123E |
possibly damaging |
Het |
| Anxa4 |
A |
T |
6: 86,730,814 (GRCm39) |
I121N |
probably damaging |
Het |
| Asic1 |
T |
C |
15: 99,593,414 (GRCm39) |
F257S |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Cckar |
T |
C |
5: 53,863,608 (GRCm39) |
T118A |
probably benign |
Het |
| Cfap61 |
T |
A |
2: 145,854,152 (GRCm39) |
I388N |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,120,311 (GRCm39) |
I156F |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,257,187 (GRCm39) |
L326Q |
possibly damaging |
Het |
| Dcpp3 |
A |
T |
17: 24,138,156 (GRCm39) |
I105L |
possibly damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,151,832 (GRCm39) |
H494Q |
probably benign |
Het |
| Dph5 |
T |
A |
3: 115,708,692 (GRCm39) |
Y125N |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,802,724 (GRCm39) |
I1010K |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,652,016 (GRCm39) |
W236R |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,813 (GRCm39) |
D3155G |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,827,808 (GRCm39) |
H125R |
probably damaging |
Het |
| Firrm |
A |
G |
1: 163,822,195 (GRCm39) |
V32A |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,120,390 (GRCm39) |
I491T |
probably damaging |
Het |
| Gm10553 |
T |
A |
1: 85,077,901 (GRCm39) |
L6Q |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,431,157 (GRCm39) |
I168N |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,487,167 (GRCm39) |
Q78L |
probably damaging |
Het |
| Hmx1 |
C |
T |
5: 35,549,400 (GRCm39) |
T231M |
probably damaging |
Het |
| Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
| Hsd17b13 |
T |
C |
5: 104,124,973 (GRCm39) |
K70R |
probably null |
Het |
| Hykk |
C |
T |
9: 54,853,521 (GRCm39) |
T281I |
probably benign |
Het |
| Il1r2 |
A |
G |
1: 40,162,362 (GRCm39) |
D335G |
probably damaging |
Het |
| Insig2 |
A |
C |
1: 121,240,040 (GRCm39) |
L87V |
probably damaging |
Het |
| Insrr |
A |
T |
3: 87,721,805 (GRCm39) |
Y1193F |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,845 (GRCm39) |
Y1173C |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,104,573 (GRCm39) |
N190S |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,897,119 (GRCm39) |
F161L |
probably benign |
Het |
| Lilra5 |
T |
C |
7: 4,244,907 (GRCm39) |
L226P |
probably damaging |
Het |
| Muc2 |
C |
T |
7: 141,276,643 (GRCm39) |
A11V |
probably benign |
Het |
| Nrp2 |
T |
C |
1: 62,777,566 (GRCm39) |
F124L |
probably damaging |
Het |
| Or52e4 |
T |
C |
7: 104,706,374 (GRCm39) |
I307T |
probably benign |
Het |
| Or5m11b |
T |
A |
2: 85,806,446 (GRCm39) |
N286K |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,512 (GRCm39) |
D52V |
probably damaging |
Het |
| Or8c19-ps1 |
T |
A |
9: 38,220,114 (GRCm39) |
S8T |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,618,471 (GRCm39) |
N87I |
possibly damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,211,721 (GRCm39) |
|
probably null |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pepd |
A |
T |
7: 34,620,882 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Pigo |
C |
A |
4: 43,017,967 (GRCm39) |
R1083L |
probably damaging |
Het |
| Pitpnm1 |
G |
A |
19: 4,153,269 (GRCm39) |
D142N |
probably damaging |
Het |
| Plod1 |
C |
T |
4: 148,016,112 (GRCm39) |
E93K |
probably benign |
Het |
| Pramel11 |
A |
T |
4: 143,623,634 (GRCm39) |
V180E |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,698,440 (GRCm39) |
I979T |
probably damaging |
Het |
| Scrib |
C |
T |
15: 75,932,492 (GRCm39) |
G743D |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,170,088 (GRCm39) |
S205P |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,867,632 (GRCm39) |
K850E |
probably damaging |
Het |
| Sfxn5 |
T |
A |
6: 85,266,195 (GRCm39) |
T101S |
probably damaging |
Het |
| Slc6a5 |
A |
T |
7: 49,567,496 (GRCm39) |
K317* |
probably null |
Het |
| Sox8 |
A |
T |
17: 25,786,871 (GRCm39) |
D277E |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,795,341 (GRCm39) |
A1600S |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,179,187 (GRCm39) |
V4429A |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,773,266 (GRCm39) |
F1137L |
possibly damaging |
Het |
| Trim43a |
A |
G |
9: 88,466,392 (GRCm39) |
R238G |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,887,934 (GRCm39) |
L1943P |
probably damaging |
Het |
| Vmn1r125 |
T |
C |
7: 21,006,261 (GRCm39) |
V53A |
possibly damaging |
Het |
| Vwa5b1 |
T |
A |
4: 138,319,420 (GRCm39) |
N412I |
probably damaging |
Het |
| Yipf7 |
T |
A |
5: 69,678,424 (GRCm39) |
T122S |
probably benign |
Het |
| Zfp1005 |
C |
T |
2: 150,110,104 (GRCm39) |
H265Y |
probably benign |
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 |
|
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 |
|
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'- GGAACCAAGTTTAAAGTTATCTGTTGT -3'
(R):5'- TGAGACGGTGATCCTTTTCAAA -3'
Sequencing Primer
(F):5'- GCGCTATCTCATTGGTAAAGGCAC -3'
(R):5'- AGGCCCGGGCAGAAATTATCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation