Incidental Mutation 'R2093:Eef1d'
| ID |
231940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef1d
|
| Ensembl Gene |
ENSMUSG00000055762 |
| Gene Name |
eukaryotic translation elongation factor 1 delta |
| Synonyms |
1700026P12Rik, 5730529A16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R2093 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
75766643-75781425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75774550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 370
(S370P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023235]
[ENSMUST00000089680]
[ENSMUST00000089681]
[ENSMUST00000109972]
[ENSMUST00000109975]
[ENSMUST00000116440]
[ENSMUST00000137426]
[ENSMUST00000141475]
[ENSMUST00000127550]
[ENSMUST00000141268]
[ENSMUST00000151066]
[ENSMUST00000144614]
[ENSMUST00000154584]
[ENSMUST00000145764]
[ENSMUST00000123712]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023235
|
| SMART Domains |
Protein: ENSMUSP00000023235
Gene: ENSMUSG00000055762
| 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 |
noncoding transcript
Transcript: ENSMUST00000055220
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089680
|
| SMART Domains |
Protein: ENSMUSP00000087109
Gene: ENSMUSG00000055762
| 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 benign
Transcript: ENSMUST00000089681
AA Change: S370P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000087110
Gene: ENSMUSG00000055762
AA Change: S370P
| 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 benign
Transcript: ENSMUST00000109972
|
| SMART Domains |
Protein: ENSMUSP00000105599
Gene: ENSMUSG00000055762
| 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 benign
Transcript: ENSMUST00000109975
AA Change: S370P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000105602
Gene: ENSMUSG00000055762
AA Change: S370P
| 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 benign
Transcript: ENSMUST00000116440
|
| SMART Domains |
Protein: ENSMUSP00000112141
Gene: ENSMUSG00000055762
| 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 benign
Transcript: ENSMUST00000137426
AA Change: S286P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114753
Gene: ENSMUSG00000055762
AA Change: S286P
| 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 |
noncoding transcript
Transcript: ENSMUST00000129800
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141475
|
| SMART Domains |
Protein: ENSMUSP00000123388
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
122 |
136 |
7.17e-5 |
PROSPERO |
|
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
174 |
188 |
7.17e-5 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127550
|
| SMART Domains |
Protein: ENSMUSP00000120735
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141268
|
| SMART Domains |
Protein: ENSMUSP00000115553
Gene: ENSMUSG00000055762
| 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 benign
Transcript: ENSMUST00000151066
|
| SMART Domains |
Protein: ENSMUSP00000118889
Gene: ENSMUSG00000055762
| 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 benign
Transcript: ENSMUST00000144614
|
| SMART Domains |
Protein: ENSMUSP00000123005
Gene: ENSMUSG00000055762
| 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 |
probably benign
Transcript: ENSMUST00000154584
|
| SMART Domains |
Protein: ENSMUSP00000116360
Gene: ENSMUSG00000055762
| 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 benign
Transcript: ENSMUST00000145764
|
| SMART Domains |
Protein: ENSMUSP00000117782
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,671,041 (GRCm39) |
D421G |
probably benign |
Het |
| Adamts1 |
T |
G |
16: 85,599,333 (GRCm39) |
Q89P |
probably benign |
Het |
| Arhgef10l |
T |
G |
4: 140,297,601 (GRCm39) |
N277T |
possibly damaging |
Het |
| Atp2c1 |
G |
A |
9: 105,295,320 (GRCm39) |
R669* |
probably null |
Het |
| Brip1 |
T |
C |
11: 86,029,971 (GRCm39) |
T558A |
possibly damaging |
Het |
| Cbr2 |
G |
A |
11: 120,621,255 (GRCm39) |
T148I |
probably benign |
Het |
| Ccdc110 |
C |
A |
8: 46,395,114 (GRCm39) |
T335K |
probably damaging |
Het |
| Cd44 |
T |
G |
2: 102,644,629 (GRCm39) |
D731A |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,501,986 (GRCm39) |
D44G |
probably damaging |
Het |
| Cnrip1 |
T |
C |
11: 17,002,237 (GRCm39) |
V23A |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,505,995 (GRCm39) |
H673L |
probably benign |
Het |
| Col3a1 |
C |
T |
1: 45,372,150 (GRCm39) |
A493V |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,299,256 (GRCm39) |
V19E |
probably damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,518,858 (GRCm39) |
D418G |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,579,742 (GRCm39) |
H234L |
probably benign |
Het |
| Drc3 |
C |
T |
11: 60,261,310 (GRCm39) |
R154W |
probably damaging |
Het |
| Drgx |
C |
T |
14: 32,369,112 (GRCm39) |
|
probably benign |
Het |
| Fdx2 |
T |
C |
9: 20,984,720 (GRCm39) |
H28R |
probably benign |
Het |
| Fmo5 |
A |
G |
3: 97,553,194 (GRCm39) |
I381V |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
C |
5: 96,929,062 (GRCm39) |
L3822P |
probably damaging |
Het |
| Gm3604 |
G |
T |
13: 62,517,420 (GRCm39) |
H313N |
possibly damaging |
Het |
| Heatr4 |
T |
C |
12: 84,021,855 (GRCm39) |
E460G |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,257,151 (GRCm39) |
H834L |
possibly damaging |
Het |
| Insr |
A |
T |
8: 3,254,762 (GRCm39) |
C331S |
probably damaging |
Het |
| Itih4 |
C |
T |
14: 30,613,694 (GRCm39) |
L304F |
probably damaging |
Het |
| Klhdc3 |
C |
T |
17: 46,988,879 (GRCm39) |
V104I |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,366,365 (GRCm39) |
D245N |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,566,178 (GRCm39) |
E2181G |
unknown |
Het |
| Map2 |
T |
C |
1: 66,438,599 (GRCm39) |
V41A |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,017,347 (GRCm39) |
H156Q |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Myo5b |
T |
A |
18: 74,892,263 (GRCm39) |
L1669Q |
probably damaging |
Het |
| Nme8 |
G |
A |
13: 19,835,042 (GRCm39) |
S548F |
probably damaging |
Het |
| Npas1 |
A |
T |
7: 16,193,202 (GRCm39) |
N408K |
probably benign |
Het |
| Or1j11 |
A |
T |
2: 36,311,941 (GRCm39) |
Y177F |
probably benign |
Het |
| Or8k30 |
A |
C |
2: 86,339,587 (GRCm39) |
Q261H |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,626,216 (GRCm39) |
Y1141H |
probably damaging |
Het |
| Pmaip1 |
C |
A |
18: 66,594,052 (GRCm39) |
P64Q |
probably damaging |
Het |
| Ranbp3 |
T |
A |
17: 57,017,145 (GRCm39) |
M387K |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,792 (GRCm39) |
Y231H |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,996,760 (GRCm39) |
S105G |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
T |
19: 7,434,215 (GRCm39) |
D573E |
probably damaging |
Het |
| Rxrg |
T |
C |
1: 167,454,893 (GRCm39) |
C159R |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,833,948 (GRCm39) |
Y78C |
probably damaging |
Het |
| Smu1 |
A |
G |
4: 40,738,438 (GRCm39) |
V432A |
probably benign |
Het |
| Spag1 |
T |
C |
15: 36,224,276 (GRCm39) |
L609P |
probably damaging |
Het |
| Spata21 |
T |
G |
4: 140,824,277 (GRCm39) |
V180G |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,721,222 (GRCm39) |
Y1319* |
probably null |
Het |
| Sptlc3 |
A |
T |
2: 139,467,794 (GRCm39) |
I451F |
possibly damaging |
Het |
| Srl |
A |
G |
16: 4,340,896 (GRCm39) |
C8R |
unknown |
Het |
| Tmprss13 |
A |
G |
9: 45,256,340 (GRCm39) |
R485G |
probably damaging |
Het |
| Trpv4 |
C |
T |
5: 114,773,565 (GRCm39) |
A266T |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,538,855 (GRCm39) |
T25A |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,450,702 (GRCm39) |
V196A |
probably benign |
Het |
| Vmn2r82 |
C |
T |
10: 79,231,813 (GRCm39) |
T604I |
probably benign |
Het |
| Zfp268 |
C |
A |
4: 145,349,139 (GRCm39) |
T192N |
probably benign |
Het |
| Zfp354a |
C |
T |
11: 50,960,551 (GRCm39) |
T254I |
probably damaging |
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 |
|
R2119:Eef1d
|
UTSW |
15 |
75,775,062 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2372:Eef1d
|
UTSW |
15 |
75,768,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCAGTTAATGTCTTCTGTGCCC -3'
(R):5'- CCATCGGAGCTGCAATAACG -3'
Sequencing Primer
(F):5'- AGTTAATGTCTTCTGTGCCCTTTGTC -3'
(R):5'- CTGGGTCAAAACGGGCCAAC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation