Incidental Mutation 'R6947:Eif2d'
| ID |
540912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif2d
|
| Ensembl Gene |
ENSMUSG00000026427 |
| Gene Name |
eukaryotic translation initiation factor 2D |
| Synonyms |
D1Ertd5e, Lgtn |
| MMRRC Submission |
045060-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6947 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131080918-131115395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 131092404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 354
(V354A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068791]
[ENSMUST00000068805]
[ENSMUST00000112446]
[ENSMUST00000131855]
[ENSMUST00000149119]
[ENSMUST00000151874]
|
| AlphaFold |
Q61211 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068791
|
| SMART Domains |
Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
99 |
173 |
1.07e-5 |
SMART |
|
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068805
AA Change: V354A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427
AA Change: V354A
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
99 |
173 |
1.07e-5 |
SMART |
|
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
|
Pfam:SUI1
|
474 |
554 |
1.1e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112446
AA Change: V354A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427
AA Change: V354A
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
99 |
173 |
1.07e-5 |
SMART |
|
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
|
Pfam:SUI1
|
472 |
551 |
3.5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131855
AA Change: V354A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
AA Change: V354A
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
99 |
173 |
1.07e-5 |
SMART |
|
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
|
Pfam:SUI1
|
472 |
554 |
8.7e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149119
|
| SMART Domains |
Protein: ENSMUSP00000137887
Gene: ENSMUSG00000026427
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
99 |
173 |
1.07e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151874
AA Change: V354A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
AA Change: V354A
| Domain | Start | End | E-Value | Type |
|---|
|
PUA
|
99 |
173 |
1.07e-5 |
SMART |
|
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
|
Pfam:SUI1
|
472 |
556 |
1e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.0%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,073,857 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,015,848 (GRCm39) |
T414A |
possibly damaging |
Het |
| Bop1 |
A |
G |
15: 76,338,188 (GRCm39) |
F561L |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,309,401 (GRCm39) |
V332A |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,365,918 (GRCm39) |
T1042A |
probably damaging |
Het |
| Cnot8 |
G |
T |
11: 58,008,331 (GRCm39) |
V266L |
probably benign |
Het |
| Cxxc4 |
C |
T |
3: 133,946,277 (GRCm39) |
S286F |
possibly damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,248 (GRCm39) |
I386L |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,568,884 (GRCm39) |
I227N |
probably damaging |
Het |
| Fgr |
T |
A |
4: 132,722,380 (GRCm39) |
|
probably null |
Het |
| Idnk |
A |
G |
13: 58,308,055 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
T |
C |
5: 23,702,543 (GRCm39) |
S952P |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,896,124 (GRCm39) |
H343R |
probably benign |
Het |
| Lgals8 |
G |
A |
13: 12,469,682 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
T |
A |
3: 129,582,883 (GRCm39) |
Q368L |
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,273,592 (GRCm39) |
T24S |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,479,456 (GRCm39) |
Q704* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,351,500 (GRCm39) |
I1948V |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,662,053 (GRCm39) |
F306L |
probably benign |
Het |
| Mos |
A |
C |
4: 3,871,585 (GRCm39) |
V77G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,177 (GRCm39) |
R3130C |
possibly damaging |
Het |
| Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or1p4-ps1 |
C |
T |
11: 74,208,370 (GRCm39) |
S173L |
unknown |
Het |
| Or5m10b |
T |
C |
2: 85,699,271 (GRCm39) |
F112L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,577,021 (GRCm39) |
|
probably null |
Het |
| Pde10a |
T |
A |
17: 9,188,424 (GRCm39) |
I908N |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,228,075 (GRCm39) |
K1058R |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,759,383 (GRCm39) |
F548Y |
probably damaging |
Het |
| Rad54b |
T |
G |
4: 11,569,859 (GRCm39) |
S58R |
possibly damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,696 (GRCm39) |
G895D |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,104,036 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,785 (GRCm39) |
S338P |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,074,373 (GRCm39) |
|
probably null |
Het |
| Slc16a12 |
A |
G |
19: 34,650,007 (GRCm39) |
F343L |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,041,875 (GRCm39) |
L444P |
possibly damaging |
Het |
| Slc44a4 |
A |
T |
17: 35,147,044 (GRCm39) |
Q358L |
probably null |
Het |
| Sowaha |
A |
G |
11: 53,369,225 (GRCm39) |
F504L |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,125,789 (GRCm39) |
L6035P |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,910,029 (GRCm39) |
M190K |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,824,950 (GRCm39) |
F227L |
possibly damaging |
Het |
| Trp53 |
A |
G |
11: 69,479,307 (GRCm39) |
K162E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,724,732 (GRCm39) |
K2098* |
probably null |
Het |
| Usp30 |
T |
C |
5: 114,241,821 (GRCm39) |
S88P |
probably benign |
Het |
| Zfp276 |
C |
A |
8: 123,981,643 (GRCm39) |
D63E |
probably benign |
Het |
|
| Other mutations in Eif2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Eif2d
|
APN |
1 |
131,094,089 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00848:Eif2d
|
APN |
1 |
131,092,173 (GRCm39) |
nonsense |
probably null |
|
|
IGL02250:Eif2d
|
APN |
1 |
131,088,166 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02423:Eif2d
|
APN |
1 |
131,081,097 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02877:Eif2d
|
APN |
1 |
131,092,854 (GRCm39) |
splice site |
probably benign |
|
|
R0001:Eif2d
|
UTSW |
1 |
131,095,864 (GRCm39) |
nonsense |
probably null |
|
|
R0593:Eif2d
|
UTSW |
1 |
131,083,465 (GRCm39) |
splice site |
probably benign |
|
|
R0739:Eif2d
|
UTSW |
1 |
131,082,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1842:Eif2d
|
UTSW |
1 |
131,098,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2088:Eif2d
|
UTSW |
1 |
131,092,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4206:Eif2d
|
UTSW |
1 |
131,082,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Eif2d
|
UTSW |
1 |
131,092,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4733:Eif2d
|
UTSW |
1 |
131,092,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4734:Eif2d
|
UTSW |
1 |
131,092,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Eif2d
|
UTSW |
1 |
131,082,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5281:Eif2d
|
UTSW |
1 |
131,101,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Eif2d
|
UTSW |
1 |
131,086,035 (GRCm39) |
makesense |
probably null |
|
|
R5773:Eif2d
|
UTSW |
1 |
131,086,040 (GRCm39) |
splice site |
probably null |
|
|
R6074:Eif2d
|
UTSW |
1 |
131,094,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7396:Eif2d
|
UTSW |
1 |
131,094,111 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7419:Eif2d
|
UTSW |
1 |
131,098,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7630:Eif2d
|
UTSW |
1 |
131,082,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7910:Eif2d
|
UTSW |
1 |
131,082,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Eif2d
|
UTSW |
1 |
131,085,988 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8471:Eif2d
|
UTSW |
1 |
131,092,155 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9217:Eif2d
|
UTSW |
1 |
131,085,972 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9488:Eif2d
|
UTSW |
1 |
131,082,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9722:Eif2d
|
UTSW |
1 |
131,092,948 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Eif2d
|
UTSW |
1 |
131,092,239 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Eif2d
|
UTSW |
1 |
131,092,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCATTGTGGCTGTGGAC -3'
(R):5'- CAACTGCAGATTGAGAGGCC -3'
Sequencing Primer
(F):5'- TGTGGACTGGAGGCACC -3'
(R):5'- CTGCAGATTGAGAGGCCTAATCTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation