Incidental Mutation 'R2372:Eef1d'
ID |
248181 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eef1d
|
Ensembl Gene |
ENSMUSG00000055762 |
Gene Name |
eukaryotic translation elongation factor 1 delta |
Synonyms |
1700026P12Rik, 5730529A16Rik |
MMRRC Submission |
040352-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R2372 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
75766643-75781425 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 75768166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 199
(R199C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023235]
[ENSMUST00000023237]
[ENSMUST00000089680]
[ENSMUST00000089681]
[ENSMUST00000109972]
[ENSMUST00000109975]
[ENSMUST00000141268]
[ENSMUST00000151066]
[ENSMUST00000137426]
[ENSMUST00000154584]
[ENSMUST00000116440]
[ENSMUST00000144614]
[ENSMUST00000229571]
[ENSMUST00000123712]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023235
AA Change: R180C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023235 Gene: ENSMUSG00000055762 AA Change: R180C
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
159 |
186 |
2.53e-4 |
SMART |
Pfam:EF1_GNE
|
195 |
245 |
3.3e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023237
|
SMART Domains |
Protein: ENSMUSP00000023237 Gene: ENSMUSG00000022574
Domain | Start | End | E-Value | Type |
PDB:4MZY|A
|
16 |
522 |
2e-70 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000055220
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089680
AA Change: R175C
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000087109 Gene: ENSMUSG00000055762 AA Change: R175C
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
coiled coil region
|
77 |
115 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
154 |
181 |
2.53e-4 |
SMART |
EF1_GNE
|
190 |
276 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089681
AA Change: R559C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000087110 Gene: ENSMUSG00000055762 AA Change: R559C
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
internal_repeat_2
|
108 |
136 |
2.92e-5 |
PROSPERO |
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
internal_repeat_2
|
231 |
259 |
2.92e-5 |
PROSPERO |
internal_repeat_1
|
244 |
263 |
2.02e-6 |
PROSPERO |
internal_repeat_1
|
389 |
408 |
2.02e-6 |
PROSPERO |
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
coiled coil region
|
461 |
499 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
538 |
565 |
2.53e-4 |
SMART |
EF1_GNE
|
574 |
660 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109972
AA Change: R156C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105599 Gene: ENSMUSG00000055762 AA Change: R156C
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
135 |
162 |
2.53e-4 |
SMART |
EF1_GNE
|
171 |
257 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109975
AA Change: R559C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105602 Gene: ENSMUSG00000055762 AA Change: R559C
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
internal_repeat_2
|
108 |
136 |
2.92e-5 |
PROSPERO |
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
internal_repeat_2
|
231 |
259 |
2.92e-5 |
PROSPERO |
internal_repeat_1
|
244 |
263 |
2.02e-6 |
PROSPERO |
internal_repeat_1
|
389 |
408 |
2.02e-6 |
PROSPERO |
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
coiled coil region
|
461 |
499 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
538 |
565 |
2.53e-4 |
SMART |
EF1_GNE
|
574 |
660 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141268
AA Change: R199C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115553 Gene: ENSMUSG00000055762 AA Change: R199C
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
coiled coil region
|
101 |
139 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
178 |
205 |
2.53e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151066
AA Change: R89C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118889 Gene: ENSMUSG00000055762 AA Change: R89C
Domain | Start | End | E-Value | Type |
EF-1_beta_acid
|
68 |
95 |
2.53e-4 |
SMART |
EF1_GNE
|
104 |
190 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137426
AA Change: R451C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114753 Gene: ENSMUSG00000055762 AA Change: R451C
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
72 |
N/A |
INTRINSIC |
internal_repeat_1
|
160 |
179 |
9.48e-6 |
PROSPERO |
internal_repeat_1
|
305 |
324 |
9.48e-6 |
PROSPERO |
low complexity region
|
330 |
346 |
N/A |
INTRINSIC |
coiled coil region
|
353 |
391 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
430 |
457 |
2.53e-4 |
SMART |
EF1_GNE
|
466 |
552 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154584
AA Change: R180C
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116360 Gene: ENSMUSG00000055762 AA Change: R180C
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
159 |
186 |
1.2e-8 |
SMART |
EF1_GNE
|
195 |
280 |
4.9e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116440
AA Change: R156C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112141 Gene: ENSMUSG00000055762 AA Change: R156C
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
135 |
162 |
2.53e-4 |
SMART |
EF1_GNE
|
171 |
257 |
4.87e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144614
AA Change: R180C
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123005 Gene: ENSMUSG00000055762 AA Change: R180C
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
EF-1_beta_acid
|
159 |
186 |
2.53e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134222
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129800
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229571
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230739
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230259
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123712
|
SMART Domains |
Protein: ENSMUSP00000122155 Gene: ENSMUSG00000055762
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700008O03Rik |
A |
G |
7: 44,009,704 (GRCm39) |
L135S |
probably damaging |
Het |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Alpi |
G |
T |
1: 87,028,316 (GRCm39) |
T169N |
probably damaging |
Het |
Ccdc15 |
T |
C |
9: 37,226,801 (GRCm39) |
D378G |
possibly damaging |
Het |
Cpb2 |
T |
G |
14: 75,505,490 (GRCm39) |
V162G |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,890,759 (GRCm39) |
E336G |
probably benign |
Het |
Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
Epha8 |
T |
C |
4: 136,660,321 (GRCm39) |
Y714C |
probably damaging |
Het |
Fyb1 |
T |
C |
15: 6,681,388 (GRCm39) |
|
probably benign |
Het |
Gfpt2 |
A |
G |
11: 49,698,542 (GRCm39) |
N46D |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gm11596 |
C |
A |
11: 99,684,082 (GRCm39) |
E13* |
probably null |
Het |
Gsx2 |
T |
C |
5: 75,237,713 (GRCm39) |
F222L |
probably damaging |
Het |
Hpca |
T |
A |
4: 129,012,237 (GRCm39) |
K100* |
probably null |
Het |
Iqsec1 |
A |
G |
6: 90,671,636 (GRCm39) |
S89P |
probably damaging |
Het |
Kif12 |
T |
A |
4: 63,086,796 (GRCm39) |
T347S |
possibly damaging |
Het |
Knop1 |
A |
G |
7: 118,452,440 (GRCm39) |
L93S |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,812,045 (GRCm39) |
T981A |
probably damaging |
Het |
N4bp2l1 |
C |
T |
5: 150,496,246 (GRCm39) |
E123K |
probably damaging |
Het |
Npr2 |
C |
T |
4: 43,650,432 (GRCm39) |
R976W |
probably damaging |
Het |
Rbpj |
T |
C |
5: 53,799,537 (GRCm39) |
|
probably benign |
Het |
Ro60 |
C |
A |
1: 143,646,620 (GRCm39) |
E42* |
probably null |
Het |
Ruvbl1 |
T |
C |
6: 88,462,779 (GRCm39) |
V301A |
possibly damaging |
Het |
Sgip1 |
T |
C |
4: 102,766,988 (GRCm39) |
|
probably null |
Het |
Sh3bp2 |
T |
C |
5: 34,716,840 (GRCm39) |
I361T |
probably benign |
Het |
Skint1 |
T |
A |
4: 111,876,348 (GRCm39) |
Y90N |
probably damaging |
Het |
Slc25a45 |
G |
A |
19: 5,934,580 (GRCm39) |
V183I |
probably benign |
Het |
Slco4c1 |
T |
A |
1: 96,748,925 (GRCm39) |
H664L |
probably benign |
Het |
Sult2a4 |
T |
A |
7: 13,649,225 (GRCm39) |
I194L |
probably benign |
Het |
Tecta |
C |
A |
9: 42,299,570 (GRCm39) |
D173Y |
probably damaging |
Het |
Tnrc18 |
T |
A |
5: 142,745,459 (GRCm39) |
|
probably benign |
Het |
Use1 |
T |
C |
8: 71,821,823 (GRCm39) |
L169P |
possibly damaging |
Het |
Zfp335 |
A |
G |
2: 164,736,959 (GRCm39) |
L918P |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,819,133 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Eef1d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02066:Eef1d
|
APN |
15 |
75,768,704 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02265:Eef1d
|
APN |
15 |
75,775,283 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02609:Eef1d
|
APN |
15 |
75,768,162 (GRCm39) |
missense |
probably null |
1.00 |
IGL02671:Eef1d
|
APN |
15 |
75,767,654 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02728:Eef1d
|
APN |
15 |
75,774,945 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4131001:Eef1d
|
UTSW |
15 |
75,775,581 (GRCm39) |
missense |
probably benign |
0.01 |
R0034:Eef1d
|
UTSW |
15 |
75,774,808 (GRCm39) |
missense |
probably benign |
|
R0523:Eef1d
|
UTSW |
15 |
75,775,005 (GRCm39) |
missense |
probably benign |
|
R0831:Eef1d
|
UTSW |
15 |
75,768,655 (GRCm39) |
unclassified |
probably benign |
|
R1164:Eef1d
|
UTSW |
15 |
75,774,526 (GRCm39) |
critical splice donor site |
probably null |
|
R1467:Eef1d
|
UTSW |
15 |
75,767,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Eef1d
|
UTSW |
15 |
75,767,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R1594:Eef1d
|
UTSW |
15 |
75,768,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Eef1d
|
UTSW |
15 |
75,773,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R2039:Eef1d
|
UTSW |
15 |
75,767,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R2093:Eef1d
|
UTSW |
15 |
75,774,550 (GRCm39) |
missense |
probably benign |
0.00 |
R2119:Eef1d
|
UTSW |
15 |
75,775,062 (GRCm39) |
missense |
probably benign |
0.43 |
R4401:Eef1d
|
UTSW |
15 |
75,774,769 (GRCm39) |
missense |
probably benign |
|
R4403:Eef1d
|
UTSW |
15 |
75,774,769 (GRCm39) |
missense |
probably benign |
|
R4425:Eef1d
|
UTSW |
15 |
75,774,648 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4614:Eef1d
|
UTSW |
15 |
75,775,425 (GRCm39) |
missense |
probably benign |
0.00 |
R4791:Eef1d
|
UTSW |
15 |
75,775,531 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4864:Eef1d
|
UTSW |
15 |
75,775,255 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5376:Eef1d
|
UTSW |
15 |
75,775,038 (GRCm39) |
missense |
probably benign |
0.25 |
R5377:Eef1d
|
UTSW |
15 |
75,775,038 (GRCm39) |
missense |
probably benign |
0.25 |
R5415:Eef1d
|
UTSW |
15 |
75,775,030 (GRCm39) |
missense |
probably benign |
0.00 |
R6966:Eef1d
|
UTSW |
15 |
75,775,558 (GRCm39) |
missense |
probably benign |
0.06 |
R7640:Eef1d
|
UTSW |
15 |
75,774,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R8210:Eef1d
|
UTSW |
15 |
75,768,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R8988:Eef1d
|
UTSW |
15 |
75,768,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R9316:Eef1d
|
UTSW |
15 |
75,781,130 (GRCm39) |
unclassified |
probably benign |
|
Z1177:Eef1d
|
UTSW |
15 |
75,774,727 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTCCCAGGTTTACATGC -3'
(R):5'- GATGAGTCTCAGCCTTCCTC -3'
Sequencing Primer
(F):5'- AGTCCCAGGTTTACATGCCTCAC -3'
(R):5'- CCCTCCCTCTGTGGCAG -3'
|
Posted On |
2014-11-11 |