Incidental Mutation 'R5595:Eif4e1b'
| ID |
437793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif4e1b
|
| Ensembl Gene |
ENSMUSG00000074895 |
| Gene Name |
eukaryotic translation initiation factor 4E family member 1B |
| Synonyms |
Eif4eloo |
| MMRRC Submission |
043147-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5595 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54931811-54936272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54934529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 131
(V131I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026993]
[ENSMUST00000099503]
[ENSMUST00000110003]
[ENSMUST00000126525]
[ENSMUST00000126785]
[ENSMUST00000131692]
[ENSMUST00000152204]
[ENSMUST00000132005]
[ENSMUST00000132415]
[ENSMUST00000132728]
[ENSMUST00000141398]
[ENSMUST00000142158]
[ENSMUST00000163796]
[ENSMUST00000139184]
[ENSMUST00000163915]
|
| AlphaFold |
Q3UTA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026993
|
| SMART Domains |
Protein: ENSMUSP00000026993
Gene: ENSMUSG00000025875
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
16 |
263 |
6.9e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099503
|
| SMART Domains |
Protein: ENSMUSP00000097102
Gene: ENSMUSG00000025875
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
16 |
266 |
1.3e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110003
AA Change: R156H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000105630
Gene: ENSMUSG00000074895
AA Change: R156H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:IF4E
|
66 |
227 |
2e-56 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124055
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126525
AA Change: V131I
PolyPhen 2
Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121625
Gene: ENSMUSG00000074895
AA Change: V131I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF4E
|
63 |
111 |
3.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126785
AA Change: R162H
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000118697
Gene: ENSMUSG00000074895
AA Change: R162H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
|
Pfam:IF4E
|
72 |
234 |
1.7e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131692
|
| SMART Domains |
Protein: ENSMUSP00000115287
Gene: ENSMUSG00000025875
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
15 |
263 |
8.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152204
AA Change: R156H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000120619
Gene: ENSMUSG00000074895
AA Change: R156H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:IF4E
|
66 |
170 |
9.1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132005
AA Change: R161H
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116681
Gene: ENSMUSG00000074895
AA Change: R161H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
29 |
N/A |
INTRINSIC |
|
Pfam:IF4E
|
71 |
175 |
3e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132415
AA Change: R152H
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000120733
Gene: ENSMUSG00000074895
AA Change: R152H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF4E
|
63 |
162 |
1.3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132728
AA Change: R156H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000123294
Gene: ENSMUSG00000074895
AA Change: R156H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:IF4E
|
66 |
228 |
4.9e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141398
AA Change: R28H
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114217
Gene: ENSMUSG00000074895
AA Change: R28H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF4E
|
1 |
90 |
6.6e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142158
AA Change: R161H
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117092
Gene: ENSMUSG00000074895
AA Change: R161H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
29 |
N/A |
INTRINSIC |
|
Pfam:IF4E
|
71 |
233 |
4.8e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163796
|
| SMART Domains |
Protein: ENSMUSP00000131671
Gene: ENSMUSG00000025875
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
13 |
193 |
4.3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171859
|
| SMART Domains |
Protein: ENSMUSP00000128568
Gene: ENSMUSG00000025875
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
1 |
79 |
3.6e-17 |
PFAM |
|
Pfam:Tetraspannin
|
78 |
144 |
1.5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139184
|
| SMART Domains |
Protein: ENSMUSP00000119305
Gene: ENSMUSG00000074895
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:IF4E
|
66 |
134 |
4.4e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163915
|
| SMART Domains |
Protein: ENSMUSP00000130765
Gene: ENSMUSG00000025875
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tetraspannin
|
13 |
143 |
5e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,682,143 (GRCm39) |
F991S |
probably benign |
Het |
| 4931406B18Rik |
A |
G |
7: 43,147,296 (GRCm39) |
I218T |
possibly damaging |
Het |
| 9930111J21Rik2 |
C |
T |
11: 48,910,538 (GRCm39) |
A632T |
possibly damaging |
Het |
| Akt1 |
A |
T |
12: 112,625,050 (GRCm39) |
L166Q |
probably null |
Het |
| Alpk2 |
A |
T |
18: 65,399,319 (GRCm39) |
D2086E |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,621,043 (GRCm39) |
C915* |
probably null |
Het |
| Ankrd44 |
T |
C |
1: 54,801,506 (GRCm39) |
T274A |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,774,209 (GRCm39) |
I398K |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,550,283 (GRCm39) |
T663A |
probably benign |
Het |
| Btbd16 |
G |
A |
7: 130,425,033 (GRCm39) |
M471I |
possibly damaging |
Het |
| Btbd16 |
C |
A |
7: 130,425,034 (GRCm39) |
Q472K |
probably damaging |
Het |
| Cdc37 |
G |
A |
9: 21,054,509 (GRCm39) |
R39C |
probably damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,453,596 (GRCm39) |
N537S |
possibly damaging |
Het |
| Cop1 |
T |
A |
1: 159,077,643 (GRCm39) |
D159E |
probably benign |
Het |
| Crtac1 |
C |
T |
19: 42,402,390 (GRCm39) |
V73I |
probably benign |
Het |
| Cryz |
T |
A |
3: 154,312,155 (GRCm39) |
V84E |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,669,689 (GRCm39) |
L433F |
probably benign |
Het |
| Ctsq |
C |
A |
13: 61,184,874 (GRCm39) |
D271Y |
probably benign |
Het |
| Cyp3a25 |
A |
C |
5: 145,931,673 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
G |
C |
7: 130,655,797 (GRCm39) |
W412C |
probably benign |
Het |
| Epha1 |
A |
G |
6: 42,341,568 (GRCm39) |
V494A |
possibly damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,433,641 (GRCm39) |
S593P |
probably damaging |
Het |
| Fbxo41 |
G |
A |
6: 85,456,883 (GRCm39) |
P429S |
probably benign |
Het |
| Fem1al |
T |
C |
11: 29,774,288 (GRCm39) |
N390D |
probably benign |
Het |
| Fgfr3 |
G |
A |
5: 33,887,347 (GRCm39) |
C204Y |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,272,861 (GRCm39) |
V1665A |
possibly damaging |
Het |
| Htt |
T |
A |
5: 35,062,741 (GRCm39) |
V2825E |
probably damaging |
Het |
| Irs1 |
A |
T |
1: 82,267,646 (GRCm39) |
V190E |
probably damaging |
Het |
| Kics2 |
T |
C |
10: 121,576,052 (GRCm39) |
|
probably benign |
Het |
| Klk1 |
T |
C |
7: 43,878,161 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,747,905 (GRCm39) |
|
probably benign |
Het |
| Meox1 |
T |
C |
11: 101,770,169 (GRCm39) |
E186G |
probably damaging |
Het |
| Micu2 |
G |
A |
14: 58,209,201 (GRCm39) |
R86W |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,432 (GRCm39) |
I160K |
probably damaging |
Het |
| Nckap1l |
T |
A |
15: 103,384,085 (GRCm39) |
M561K |
possibly damaging |
Het |
| Or4c104 |
A |
T |
2: 88,586,749 (GRCm39) |
I90N |
probably damaging |
Het |
| Or52s6 |
A |
T |
7: 103,091,635 (GRCm39) |
S232T |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,213 (GRCm39) |
M1L |
probably benign |
Het |
| Otoa |
T |
A |
7: 120,721,200 (GRCm39) |
L405H |
probably damaging |
Het |
| Phyhip |
A |
T |
14: 70,704,314 (GRCm39) |
M178L |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,382,152 (GRCm39) |
N1630I |
probably damaging |
Het |
| Plek2 |
T |
A |
12: 78,940,883 (GRCm39) |
T247S |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,228,409 (GRCm39) |
V293A |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,992,810 (GRCm39) |
F193Y |
probably damaging |
Het |
| Scn3a |
C |
T |
2: 65,291,057 (GRCm39) |
M1896I |
probably benign |
Het |
| Snrnp200 |
T |
C |
2: 127,067,933 (GRCm39) |
V810A |
probably damaging |
Het |
| Taar4 |
G |
A |
10: 23,836,639 (GRCm39) |
S83N |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tec |
T |
A |
5: 72,926,087 (GRCm39) |
I322F |
possibly damaging |
Het |
| Teddm2 |
T |
C |
1: 153,726,146 (GRCm39) |
I190V |
probably benign |
Het |
| Tmem117 |
A |
G |
15: 94,992,765 (GRCm39) |
E475G |
probably damaging |
Het |
| Trip10 |
T |
A |
17: 57,569,460 (GRCm39) |
Y495N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,638,695 (GRCm39) |
V4035A |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,558,062 (GRCm39) |
V1466M |
possibly damaging |
Het |
| Vasp |
A |
G |
7: 18,991,816 (GRCm39) |
|
probably benign |
Het |
| Vmn1r89 |
A |
T |
7: 12,953,857 (GRCm39) |
M130L |
possibly damaging |
Het |
| Vmn2r2 |
A |
T |
3: 64,034,036 (GRCm39) |
D495E |
possibly damaging |
Het |
| Zfp213 |
A |
G |
17: 23,780,160 (GRCm39) |
V120A |
possibly damaging |
Het |
|
| Other mutations in Eif4e1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01614:Eif4e1b
|
APN |
13 |
54,934,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Eif4e1b
|
UTSW |
13 |
54,934,704 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1858:Eif4e1b
|
UTSW |
13 |
54,935,091 (GRCm39) |
splice site |
probably null |
|
|
R4130:Eif4e1b
|
UTSW |
13 |
54,935,130 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4426:Eif4e1b
|
UTSW |
13 |
54,932,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4702:Eif4e1b
|
UTSW |
13 |
54,935,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5367:Eif4e1b
|
UTSW |
13 |
54,934,757 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5976:Eif4e1b
|
UTSW |
13 |
54,932,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Eif4e1b
|
UTSW |
13 |
54,932,018 (GRCm39) |
missense |
probably null |
0.13 |
|
R6574:Eif4e1b
|
UTSW |
13 |
54,932,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:Eif4e1b
|
UTSW |
13 |
54,932,128 (GRCm39) |
intron |
probably benign |
|
|
R6980:Eif4e1b
|
UTSW |
13 |
54,931,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7131:Eif4e1b
|
UTSW |
13 |
54,931,913 (GRCm39) |
missense |
probably null |
0.97 |
|
R7349:Eif4e1b
|
UTSW |
13 |
54,932,006 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9311:Eif4e1b
|
UTSW |
13 |
54,932,332 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9540:Eif4e1b
|
UTSW |
13 |
54,933,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAGGAAGCTTGGTGTCTAC -3'
(R):5'- GCTGTATTCCTCAAAACAATTCCC -3'
Sequencing Primer
(F):5'- GGCTATTCAGAGAAACCCTGTCTTG -3'
(R):5'- TATTCCTCAAAACAATTCCCAACCAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation