Incidental Mutation 'R5040:Eif5'
| ID |
393183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif5
|
| Ensembl Gene |
ENSMUSG00000021282 |
| Gene Name |
eukaryotic translation initiation factor 5 |
| Synonyms |
2810011H21Rik, D12Ertd549e |
| MMRRC Submission |
042630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R5040 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111504535-111513187 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111506284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 41
(D41G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050993]
[ENSMUST00000166123]
[ENSMUST00000220803]
[ENSMUST00000222757]
[ENSMUST00000222234]
[ENSMUST00000222441]
[ENSMUST00000222375]
[ENSMUST00000222388]
[ENSMUST00000221292]
|
| AlphaFold |
P59325 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050993
AA Change: D41G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061616
Gene: ENSMUSG00000021282
AA Change: D41G
| Domain | Start | End | E-Value | Type |
|---|
|
eIF2B_5
|
13 |
128 |
7.62e-67 |
SMART |
|
low complexity region
|
154 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
208 |
N/A |
INTRINSIC |
|
eIF5C
|
296 |
386 |
7.85e-40 |
SMART |
|
low complexity region
|
421 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082559
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166123
AA Change: D41G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126825
Gene: ENSMUSG00000021282
AA Change: D41G
| Domain | Start | End | E-Value | Type |
|---|
|
eIF2B_5
|
13 |
128 |
7.62e-67 |
SMART |
|
low complexity region
|
154 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
208 |
N/A |
INTRINSIC |
|
eIF5C
|
296 |
386 |
7.85e-40 |
SMART |
|
low complexity region
|
421 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220918
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221101
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221243
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222757
AA Change: D41G
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222234
AA Change: D41G
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222441
AA Change: D41G
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222375
AA Change: D41G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222388
AA Change: D41G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221872
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221363
|
| Meta Mutation Damage Score |
0.8909 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,669,578 (GRCm39) |
Q159R |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,555,228 (GRCm39) |
I446V |
possibly damaging |
Het |
| Areg |
A |
T |
5: 91,292,198 (GRCm39) |
H166L |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 43,734,825 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
T |
C |
7: 100,526,032 (GRCm39) |
D874G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,872,932 (GRCm39) |
T452A |
probably damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,566 (GRCm39) |
T208S |
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,026,780 (GRCm39) |
L69Q |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,793 (GRCm39) |
R142K |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,785,059 (GRCm39) |
I303F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,992,625 (GRCm39) |
Y3979H |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,774,316 (GRCm39) |
C162S |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,824,200 (GRCm39) |
M239I |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,382,317 (GRCm39) |
D284V |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,476,417 (GRCm39) |
A1821V |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,312,319 (GRCm39) |
A745T |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,765,771 (GRCm39) |
L491P |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,326 (GRCm39) |
L396P |
probably damaging |
Het |
| Gyg1 |
A |
G |
3: 20,176,823 (GRCm39) |
|
probably benign |
Het |
| Hhip |
C |
A |
8: 80,724,235 (GRCm39) |
V336L |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,707,816 (GRCm39) |
P660S |
possibly damaging |
Het |
| Hnrnpul1 |
G |
A |
7: 25,442,414 (GRCm39) |
T276I |
possibly damaging |
Het |
| Ifnl2 |
G |
T |
7: 28,208,511 (GRCm39) |
R147S |
possibly damaging |
Het |
| Ilvbl |
A |
G |
10: 78,419,152 (GRCm39) |
D467G |
probably damaging |
Het |
| Kcnh1 |
A |
T |
1: 192,187,783 (GRCm39) |
H748L |
probably benign |
Het |
| Lyg1 |
A |
C |
1: 37,989,892 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
G |
13: 41,183,574 (GRCm39) |
Y544H |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,046,230 (GRCm39) |
|
probably benign |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Myom3 |
T |
C |
4: 135,516,970 (GRCm39) |
S847P |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,419,599 (GRCm39) |
C9G |
probably null |
Het |
| Or5b125-ps1 |
T |
A |
19: 13,056,307 (GRCm39) |
|
noncoding transcript |
Het |
| Pcmtd1 |
T |
C |
1: 7,190,599 (GRCm39) |
Y23H |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,790,234 (GRCm39) |
H972Q |
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,358,452 (GRCm39) |
I929T |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,709 (GRCm39) |
T60A |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,653,156 (GRCm39) |
I398N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,029,350 (GRCm39) |
E206G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,859,915 (GRCm39) |
|
probably null |
Het |
| Sh3bp4 |
C |
T |
1: 89,071,962 (GRCm39) |
S270L |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,343,993 (GRCm39) |
I297T |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,927,914 (GRCm39) |
T566I |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,282,844 (GRCm39) |
V139E |
possibly damaging |
Het |
| Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
| Tamalin |
G |
A |
15: 101,126,923 (GRCm39) |
V134I |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,588,453 (GRCm39) |
M344K |
possibly damaging |
Het |
| Tcstv7a |
C |
T |
13: 120,290,025 (GRCm39) |
W57* |
probably null |
Het |
| Tmc1 |
A |
G |
19: 20,801,394 (GRCm39) |
V502A |
possibly damaging |
Het |
| Tmco4 |
G |
T |
4: 138,747,477 (GRCm39) |
G242V |
probably damaging |
Het |
| Trp53bp2 |
G |
A |
1: 182,272,271 (GRCm39) |
R460H |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,528,746 (GRCm39) |
C1328S |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,364,875 (GRCm39) |
D12G |
probably damaging |
Het |
| Zfp457 |
C |
T |
13: 67,440,899 (GRCm39) |
A463T |
probably benign |
Het |
|
| Other mutations in Eif5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00907:Eif5
|
APN |
12 |
111,506,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03399:Eif5
|
APN |
12 |
111,511,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Builder
|
UTSW |
12 |
111,510,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Karenina
|
UTSW |
12 |
111,509,227 (GRCm39) |
missense |
probably benign |
0.16 |
|
Tolstoy
|
UTSW |
12 |
111,509,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0561:Eif5
|
UTSW |
12 |
111,506,950 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1633:Eif5
|
UTSW |
12 |
111,506,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1717:Eif5
|
UTSW |
12 |
111,508,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2939:Eif5
|
UTSW |
12 |
111,506,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3820:Eif5
|
UTSW |
12 |
111,506,618 (GRCm39) |
nonsense |
probably null |
|
|
R4402:Eif5
|
UTSW |
12 |
111,508,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4532:Eif5
|
UTSW |
12 |
111,506,318 (GRCm39) |
nonsense |
probably null |
|
|
R5379:Eif5
|
UTSW |
12 |
111,509,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5575:Eif5
|
UTSW |
12 |
111,508,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6278:Eif5
|
UTSW |
12 |
111,509,227 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6629:Eif5
|
UTSW |
12 |
111,510,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:Eif5
|
UTSW |
12 |
111,511,030 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7347:Eif5
|
UTSW |
12 |
111,506,724 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7409:Eif5
|
UTSW |
12 |
111,506,697 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7513:Eif5
|
UTSW |
12 |
111,506,686 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7964:Eif5
|
UTSW |
12 |
111,506,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8384:Eif5
|
UTSW |
12 |
111,506,239 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0013:Eif5
|
UTSW |
12 |
111,511,028 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATGCCCCGTTTGATTGC -3'
(R):5'- CTCACCGTGTTAAAATTACAGGGAAAC -3'
Sequencing Primer
(F):5'- CCCCGTTTGATTGCTAAGGTAATGC -3'
(R):5'- CTGAAATACAGCCAGGGTGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation