Incidental Mutation 'R5978:Eif5b'
| ID |
481232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif5b
|
| Ensembl Gene |
ENSMUSG00000026083 |
| Gene Name |
eukaryotic translation initiation factor 5B |
| Synonyms |
IF2, A030003E17Rik |
| MMRRC Submission |
044160-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5978 (G1)
|
| Quality Score |
125.008 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
38037091-38094660 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 38037361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027252]
[ENSMUST00000162031]
[ENSMUST00000192237]
[ENSMUST00000192960]
[ENSMUST00000193832]
[ENSMUST00000195247]
[ENSMUST00000195032]
|
| AlphaFold |
Q05D44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027252
|
| SMART Domains |
Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
193 |
N/A |
INTRINSIC |
|
coiled coil region
|
227 |
272 |
N/A |
INTRINSIC |
|
coiled coil region
|
301 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
498 |
N/A |
INTRINSIC |
|
coiled coil region
|
523 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
580 |
594 |
N/A |
INTRINSIC |
|
Pfam:GTP_EFTU
|
625 |
840 |
4.7e-35 |
PFAM |
|
Pfam:MMR_HSR1
|
629 |
753 |
5.1e-6 |
PFAM |
|
Pfam:GTP_EFTU_D2
|
866 |
944 |
7.1e-11 |
PFAM |
|
Pfam:IF-2
|
959 |
1066 |
1.4e-20 |
PFAM |
|
Blast:S1
|
1116 |
1172 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162031
|
| SMART Domains |
Protein: ENSMUSP00000125491
Gene: ENSMUSG00000058407
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
5.1e-8 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
172 |
9.2e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192237
|
| SMART Domains |
Protein: ENSMUSP00000141640
Gene: ENSMUSG00000058407
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
75 |
166 |
6.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192548
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192960
|
| SMART Domains |
Protein: ENSMUSP00000141281
Gene: ENSMUSG00000058407
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193832
|
| SMART Domains |
Protein: ENSMUSP00000142188
Gene: ENSMUSG00000058407
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
6.1e-5 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
172 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194747
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195247
|
| SMART Domains |
Protein: ENSMUSP00000141609
Gene: ENSMUSG00000058407
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
5.1e-8 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
172 |
9.2e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195032
|
| SMART Domains |
Protein: ENSMUSP00000141595
Gene: ENSMUSG00000058407
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phosducin
|
15 |
180 |
5.1e-8 |
PFAM |
|
Pfam:Thioredoxin
|
75 |
172 |
9.2e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks6 |
T |
A |
4: 47,049,252 (GRCm39) |
S218C |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,476,614 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
G |
5: 21,521,966 (GRCm39) |
I353L |
probably benign |
Het |
| Cst3 |
A |
T |
2: 148,714,741 (GRCm39) |
M112K |
probably benign |
Het |
| Cst3 |
T |
G |
2: 148,714,742 (GRCm39) |
M112L |
probably benign |
Het |
| Cyp2j11 |
A |
C |
4: 96,207,589 (GRCm39) |
L242R |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,224,209 (GRCm39) |
I1253M |
possibly damaging |
Het |
| Fstl5 |
C |
T |
3: 76,052,392 (GRCm39) |
H41Y |
probably damaging |
Het |
| Gm11011 |
T |
C |
2: 169,426,361 (GRCm39) |
K84R |
unknown |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,113,465 (GRCm39) |
V923F |
probably damaging |
Het |
| Hnrnpll |
G |
A |
17: 80,341,620 (GRCm39) |
T473M |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,876,469 (GRCm39) |
Y845N |
probably damaging |
Het |
| Il34 |
T |
A |
8: 111,469,317 (GRCm39) |
D166V |
probably damaging |
Het |
| Kel |
T |
A |
6: 41,664,979 (GRCm39) |
H595L |
probably benign |
Het |
| Krt77 |
T |
C |
15: 101,771,363 (GRCm39) |
I313M |
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,438,665 (GRCm39) |
E274G |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,739,936 (GRCm39) |
Y818C |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,320,204 (GRCm39) |
Y1046F |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,424,438 (GRCm39) |
D1429V |
probably damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,388,291 (GRCm39) |
M325T |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,431,245 (GRCm39) |
I1902N |
probably damaging |
Het |
| Nkain3 |
A |
T |
4: 20,485,026 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
A |
T |
8: 95,215,221 (GRCm39) |
N940Y |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,256,703 (GRCm39) |
I107K |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,343,437 (GRCm39) |
S328P |
possibly damaging |
Het |
| Or1j17 |
A |
C |
2: 36,578,694 (GRCm39) |
K227Q |
probably benign |
Het |
| Parp8 |
A |
C |
13: 117,032,268 (GRCm39) |
S302A |
probably benign |
Het |
| Ptgr2 |
G |
T |
12: 84,342,032 (GRCm39) |
E27* |
probably null |
Het |
| Rnf115 |
T |
A |
3: 96,695,982 (GRCm39) |
I256N |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,502,614 (GRCm39) |
H3515L |
probably benign |
Het |
| Scel |
A |
G |
14: 103,766,690 (GRCm39) |
|
probably null |
Het |
| Slc4a5 |
T |
A |
6: 83,254,518 (GRCm39) |
S572T |
probably benign |
Het |
| Slc4a9 |
T |
G |
18: 36,668,456 (GRCm39) |
I705S |
probably damaging |
Het |
| Spint4 |
C |
T |
2: 164,542,252 (GRCm39) |
P101L |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,620 (GRCm39) |
D212E |
probably benign |
Het |
| Tmem39a |
T |
A |
16: 38,411,392 (GRCm39) |
M449K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,639,143 (GRCm39) |
T13877A |
possibly damaging |
Het |
| Ube2v2 |
T |
C |
16: 15,394,991 (GRCm39) |
N20S |
probably benign |
Het |
| Vmn1r14 |
C |
T |
6: 57,210,929 (GRCm39) |
S169F |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,849,181 (GRCm39) |
H2410R |
probably benign |
Het |
| Wdr81 |
G |
A |
11: 75,335,224 (GRCm39) |
L1781F |
probably damaging |
Het |
| Zfp91 |
A |
G |
19: 12,747,515 (GRCm39) |
I536T |
probably benign |
Het |
|
| Other mutations in Eif5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Eif5b
|
APN |
1 |
38,080,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01377:Eif5b
|
APN |
1 |
38,075,179 (GRCm39) |
missense |
probably benign |
|
|
IGL01395:Eif5b
|
APN |
1 |
38,076,339 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01572:Eif5b
|
APN |
1 |
38,061,335 (GRCm39) |
nonsense |
probably null |
|
|
IGL01615:Eif5b
|
APN |
1 |
38,084,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02141:Eif5b
|
APN |
1 |
38,071,403 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02260:Eif5b
|
APN |
1 |
38,084,537 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02308:Eif5b
|
APN |
1 |
38,080,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03180:Eif5b
|
APN |
1 |
38,075,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03327:Eif5b
|
APN |
1 |
38,080,772 (GRCm39) |
splice site |
probably benign |
|
|
R0018:Eif5b
|
UTSW |
1 |
38,057,970 (GRCm39) |
missense |
unknown |
|
|
R0036:Eif5b
|
UTSW |
1 |
38,058,192 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0137:Eif5b
|
UTSW |
1 |
38,058,324 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0349:Eif5b
|
UTSW |
1 |
38,071,447 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0606:Eif5b
|
UTSW |
1 |
38,087,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1056:Eif5b
|
UTSW |
1 |
38,061,248 (GRCm39) |
missense |
unknown |
|
|
R1225:Eif5b
|
UTSW |
1 |
38,076,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2043:Eif5b
|
UTSW |
1 |
38,080,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Eif5b
|
UTSW |
1 |
38,087,875 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2225:Eif5b
|
UTSW |
1 |
38,058,304 (GRCm39) |
missense |
unknown |
|
|
R2432:Eif5b
|
UTSW |
1 |
38,058,423 (GRCm39) |
missense |
unknown |
|
|
R2922:Eif5b
|
UTSW |
1 |
38,057,100 (GRCm39) |
splice site |
probably benign |
|
|
R4357:Eif5b
|
UTSW |
1 |
38,089,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Eif5b
|
UTSW |
1 |
38,080,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4665:Eif5b
|
UTSW |
1 |
38,084,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Eif5b
|
UTSW |
1 |
38,057,958 (GRCm39) |
missense |
unknown |
|
|
R4941:Eif5b
|
UTSW |
1 |
38,090,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Eif5b
|
UTSW |
1 |
38,090,792 (GRCm39) |
makesense |
probably null |
|
|
R5020:Eif5b
|
UTSW |
1 |
38,058,150 (GRCm39) |
nonsense |
probably null |
|
|
R5175:Eif5b
|
UTSW |
1 |
38,084,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5375:Eif5b
|
UTSW |
1 |
38,084,835 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5566:Eif5b
|
UTSW |
1 |
38,090,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Eif5b
|
UTSW |
1 |
38,084,765 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5853:Eif5b
|
UTSW |
1 |
38,076,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6315:Eif5b
|
UTSW |
1 |
38,057,114 (GRCm39) |
missense |
unknown |
|
|
R6376:Eif5b
|
UTSW |
1 |
38,084,760 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6388:Eif5b
|
UTSW |
1 |
38,058,081 (GRCm39) |
missense |
unknown |
|
|
R6444:Eif5b
|
UTSW |
1 |
38,075,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6455:Eif5b
|
UTSW |
1 |
38,058,108 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6810:Eif5b
|
UTSW |
1 |
38,085,741 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6877:Eif5b
|
UTSW |
1 |
38,089,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7130:Eif5b
|
UTSW |
1 |
38,080,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Eif5b
|
UTSW |
1 |
38,088,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7439:Eif5b
|
UTSW |
1 |
38,090,718 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7488:Eif5b
|
UTSW |
1 |
38,089,387 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8140:Eif5b
|
UTSW |
1 |
38,090,357 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8166:Eif5b
|
UTSW |
1 |
38,087,901 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8191:Eif5b
|
UTSW |
1 |
38,075,283 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8304:Eif5b
|
UTSW |
1 |
38,084,774 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8549:Eif5b
|
UTSW |
1 |
38,076,288 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8558:Eif5b
|
UTSW |
1 |
38,083,795 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8893:Eif5b
|
UTSW |
1 |
38,090,300 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9452:Eif5b
|
UTSW |
1 |
38,084,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9487:Eif5b
|
UTSW |
1 |
38,084,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9487:Eif5b
|
UTSW |
1 |
38,058,451 (GRCm39) |
nonsense |
probably null |
|
|
R9542:Eif5b
|
UTSW |
1 |
38,057,131 (GRCm39) |
nonsense |
probably null |
|
|
R9721:Eif5b
|
UTSW |
1 |
38,076,740 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9745:Eif5b
|
UTSW |
1 |
38,084,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Eif5b
|
UTSW |
1 |
38,090,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
RF018:Eif5b
|
UTSW |
1 |
38,060,673 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2017-06-26 |
Incidental Mutation