Incidental Mutation 'R9767:Eif2s2'
| ID |
733322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2s2
|
| Ensembl Gene |
ENSMUSG00000074656 |
| Gene Name |
eukaryotic translation initiation factor 2 subunit 2 beta |
| Synonyms |
D2Ertd303e, EIF2B, 2810026E11Rik, EIF2, 38kDa |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9767 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154713330-154734826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154730125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 57
(D57E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099173]
[ENSMUST00000137333]
[ENSMUST00000161172]
[ENSMUST00000166171]
|
| AlphaFold |
Q99L45 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099173
AA Change: D57E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000096777
Gene: ENSMUSG00000074656
AA Change: D57E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
132 |
N/A |
INTRINSIC |
|
eIF2B_5
|
197 |
306 |
1.93e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137333
|
| SMART Domains |
Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596
| Domain | Start | End | E-Value | Type |
|---|
|
Agouti
|
6 |
70 |
2.53e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161172
AA Change: D52E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000125248
Gene: ENSMUSG00000074656
AA Change: D52E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
82 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166171
AA Change: D57E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000128257
Gene: ENSMUSG00000074656
AA Change: D57E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
132 |
N/A |
INTRINSIC |
|
eIF2B_5
|
197 |
306 |
1.93e-68 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethallity prior to E8.5. Mice heterozygous for a gene trap allele exhibit reduced incidence of testicular germ cell tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
T |
3: 151,207,394 (GRCm39) |
M314L |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,823,799 (GRCm39) |
S41P |
probably damaging |
Het |
| Aox4 |
A |
C |
1: 58,274,357 (GRCm39) |
N381T |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,751,148 (GRCm39) |
|
probably null |
Het |
| Cep350 |
A |
G |
1: 155,739,018 (GRCm39) |
V2275A |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,655,395 (GRCm39) |
G831E |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dchs2 |
A |
G |
3: 83,212,206 (GRCm39) |
I2002V |
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,483,709 (GRCm39) |
R384C |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,342,796 (GRCm39) |
T136A |
possibly damaging |
Het |
| Eml2 |
C |
T |
7: 18,920,083 (GRCm39) |
T129I |
probably benign |
Het |
| Flad1 |
A |
C |
3: 89,310,718 (GRCm39) |
I443S |
probably benign |
Het |
| Glis1 |
A |
T |
4: 107,491,794 (GRCm39) |
T741S |
probably benign |
Het |
| Gpr156 |
A |
G |
16: 37,818,297 (GRCm39) |
Y331C |
probably damaging |
Het |
| Lrwd1 |
C |
T |
5: 136,162,856 (GRCm39) |
V122M |
possibly damaging |
Het |
| Ndufs2 |
G |
T |
1: 171,068,643 (GRCm39) |
P89Q |
probably damaging |
Het |
| Nkx1-2 |
C |
T |
7: 132,199,402 (GRCm39) |
V120I |
probably benign |
Het |
| Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
| Or7a41 |
T |
C |
10: 78,870,765 (GRCm39) |
L45P |
possibly damaging |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,096 (GRCm39) |
I183N |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,484,636 (GRCm39) |
D1973G |
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,718,101 (GRCm39) |
S938P |
probably benign |
Het |
| Prss27 |
G |
T |
17: 24,257,283 (GRCm39) |
M1I |
probably null |
Het |
| Rai14 |
T |
C |
15: 10,610,127 (GRCm39) |
T74A |
probably benign |
Het |
| Rcc2 |
C |
T |
4: 140,435,331 (GRCm39) |
R117W |
probably damaging |
Het |
| Rpl31 |
T |
A |
1: 39,410,189 (GRCm39) |
*130R |
probably null |
Het |
| Rplp0 |
T |
C |
5: 115,699,563 (GRCm39) |
S213P |
probably benign |
Het |
| Sdcbp2 |
T |
C |
2: 151,429,057 (GRCm39) |
I152T |
probably damaging |
Het |
| Senp3 |
T |
C |
11: 69,569,013 (GRCm39) |
T383A |
possibly damaging |
Het |
| Sod2 |
C |
A |
17: 13,227,180 (GRCm39) |
Q45K |
probably benign |
Het |
| Speg |
A |
T |
1: 75,403,825 (GRCm39) |
I2669F |
possibly damaging |
Het |
| Stat4 |
T |
G |
1: 52,141,653 (GRCm39) |
F577V |
probably damaging |
Het |
| Tex9 |
C |
A |
9: 72,368,518 (GRCm39) |
E377* |
probably null |
Het |
| Tmprss15 |
A |
T |
16: 78,875,977 (GRCm39) |
V119D |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,079,234 (GRCm39) |
S1800P |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,212,274 (GRCm39) |
D96G |
probably damaging |
Het |
| Vmn2r51 |
G |
T |
7: 9,839,407 (GRCm39) |
N60K |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,910,403 (GRCm39) |
D3389G |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,879,306 (GRCm39) |
E1506K |
|
Het |
| Zfp1 |
A |
G |
8: 112,396,203 (GRCm39) |
N75D |
probably benign |
Het |
|
| Other mutations in Eif2s2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Eif2s2
|
APN |
2 |
154,729,629 (GRCm39) |
missense |
probably benign |
|
|
R0414:Eif2s2
|
UTSW |
2 |
154,726,381 (GRCm39) |
splice site |
probably benign |
|
|
R0631:Eif2s2
|
UTSW |
2 |
154,726,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4480:Eif2s2
|
UTSW |
2 |
154,730,190 (GRCm39) |
missense |
probably benign |
|
|
R4660:Eif2s2
|
UTSW |
2 |
154,730,189 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4735:Eif2s2
|
UTSW |
2 |
154,720,467 (GRCm39) |
splice site |
probably null |
|
|
R5054:Eif2s2
|
UTSW |
2 |
154,734,590 (GRCm39) |
splice site |
probably null |
|
|
R8062:Eif2s2
|
UTSW |
2 |
154,719,724 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8163:Eif2s2
|
UTSW |
2 |
154,734,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8772:Eif2s2
|
UTSW |
2 |
154,729,659 (GRCm39) |
missense |
probably null |
|
|
R9004:Eif2s2
|
UTSW |
2 |
154,720,404 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9491:Eif2s2
|
UTSW |
2 |
154,734,630 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAATGTCAGAGAGCATTCCCTGAC -3'
(R):5'- GGAATGGGCGCTTCATTAGG -3'
Sequencing Primer
(F):5'- GAGAGCATTCCCTGACACAATCTTAG -3'
(R):5'- GGGCGCTTCATTAGGAATTATCAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation