Incidental Mutation 'R4995:Eif5b'
| ID |
385140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif5b
|
| Ensembl Gene |
ENSMUSG00000026083 |
| Gene Name |
eukaryotic translation initiation factor 5B |
| Synonyms |
IF2, A030003E17Rik |
| MMRRC Submission |
042589-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4995 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
38037091-38094660 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to A
at 38090792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Lysine
at position 1217
(*1217K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027251]
[ENSMUST00000027252]
|
| AlphaFold |
Q05D44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027251
|
| SMART Domains |
Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
46 |
121 |
3.99e-13 |
SMART |
|
low complexity region
|
320 |
342 |
N/A |
INTRINSIC |
|
Pfam:IMS
|
420 |
620 |
1.9e-43 |
PFAM |
|
Pfam:IMS_C
|
700 |
831 |
5.8e-20 |
PFAM |
|
low complexity region
|
888 |
901 |
N/A |
INTRINSIC |
|
Pfam:DUF4414
|
938 |
1071 |
9.7e-11 |
PFAM |
|
Pfam:REV1_C
|
1127 |
1248 |
1.2e-43 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000027252
AA Change: *1217K
|
| SMART Domains |
Protein: ENSMUSP00000027252
Gene: ENSMUSG00000026083
AA Change: *1217K
| 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 |
noncoding transcript
Transcript: ENSMUST00000192548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194650
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195664
|
| Meta Mutation Damage Score |
0.9647 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
99% (86/87) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
G |
A |
2: 19,498,995 (GRCm39) |
Q333* |
probably null |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Acvrl1 |
G |
A |
15: 101,033,741 (GRCm39) |
R141H |
probably benign |
Het |
| Adprm |
A |
G |
11: 66,932,436 (GRCm39) |
F158L |
possibly damaging |
Het |
| Aldoart2 |
C |
T |
12: 55,613,038 (GRCm39) |
T321M |
probably benign |
Het |
| Ap3m2 |
A |
G |
8: 23,293,792 (GRCm39) |
V86A |
probably benign |
Het |
| Arhgef19 |
T |
A |
4: 140,974,826 (GRCm39) |
|
probably null |
Het |
| Bcl2l12 |
T |
G |
7: 44,643,615 (GRCm39) |
|
probably null |
Het |
| Bptf |
T |
C |
11: 106,945,391 (GRCm39) |
Q2501R |
probably damaging |
Het |
| C230029F24Rik |
A |
T |
1: 49,377,295 (GRCm39) |
|
noncoding transcript |
Het |
| C7 |
C |
T |
15: 5,079,074 (GRCm39) |
G78D |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,650,538 (GRCm39) |
T135A |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,065,108 (GRCm39) |
M740T |
possibly damaging |
Het |
| Cbx4 |
A |
G |
11: 118,972,037 (GRCm39) |
V446A |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,822,112 (GRCm39) |
R1735L |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,830,236 (GRCm39) |
D135G |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,687,246 (GRCm39) |
T19A |
probably damaging |
Het |
| Chic2 |
A |
T |
5: 75,204,865 (GRCm39) |
V32D |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,120 (GRCm39) |
K780E |
probably benign |
Het |
| Col8a2 |
A |
T |
4: 126,204,581 (GRCm39) |
D197V |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,024,000 (GRCm39) |
V372E |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,418,747 (GRCm39) |
V26M |
probably damaging |
Het |
| Ddx5 |
G |
A |
11: 106,676,062 (GRCm39) |
T237I |
probably damaging |
Het |
| Dmxl2 |
G |
T |
9: 54,408,725 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,135,747 (GRCm39) |
S1188R |
probably benign |
Het |
| Ehbp1 |
T |
A |
11: 22,051,073 (GRCm39) |
H493L |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,142,336 (GRCm39) |
|
probably benign |
Het |
| Etfdh |
T |
C |
3: 79,513,095 (GRCm39) |
D376G |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,842,980 (GRCm39) |
Q1088R |
probably benign |
Het |
| Fbxw16 |
G |
T |
9: 109,270,318 (GRCm39) |
T141N |
probably damaging |
Het |
| Fgf11 |
G |
A |
11: 69,689,585 (GRCm39) |
H138Y |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,418 (GRCm39) |
E154G |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,296,274 (GRCm39) |
V3601D |
probably damaging |
Het |
| Jup |
G |
T |
11: 100,270,367 (GRCm39) |
S380* |
probably null |
Het |
| Klrg1 |
T |
A |
6: 122,255,234 (GRCm39) |
D66V |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,600,550 (GRCm39) |
A633V |
probably benign |
Het |
| Lmln |
T |
A |
16: 32,894,467 (GRCm39) |
Y203* |
probably null |
Het |
| Lrrc58 |
T |
G |
16: 37,697,418 (GRCm39) |
C165G |
probably benign |
Het |
| Lss |
T |
C |
10: 76,383,371 (GRCm39) |
V557A |
probably benign |
Het |
| Mast4 |
T |
C |
13: 103,042,262 (GRCm39) |
|
probably benign |
Het |
| Med13l |
C |
A |
5: 118,869,014 (GRCm39) |
P754Q |
possibly damaging |
Het |
| Mga |
C |
T |
2: 119,763,063 (GRCm39) |
R1240* |
probably null |
Het |
| Mgat5b |
T |
A |
11: 116,865,025 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,610,209 (GRCm39) |
D1572G |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,754,214 (GRCm38) |
S1363T |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,575,332 (GRCm39) |
S1306T |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,908,258 (GRCm39) |
V2005A |
probably damaging |
Het |
| Myo1e |
G |
A |
9: 70,260,554 (GRCm39) |
D571N |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,955,747 (GRCm39) |
|
probably null |
Het |
| Ndufb10 |
T |
C |
17: 24,941,731 (GRCm39) |
|
probably null |
Het |
| Nelfb |
G |
T |
2: 25,096,208 (GRCm39) |
D300E |
probably benign |
Het |
| Nicol1 |
G |
A |
5: 34,142,270 (GRCm39) |
R79H |
probably damaging |
Het |
| Odad2 |
G |
A |
18: 7,223,663 (GRCm39) |
T460M |
probably damaging |
Het |
| Or2y1d |
T |
A |
11: 49,321,482 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or4e5 |
A |
T |
14: 52,727,988 (GRCm39) |
C61* |
probably null |
Het |
| Or52n2c |
T |
A |
7: 104,574,942 (GRCm39) |
T10S |
probably benign |
Het |
| Or52z15 |
T |
A |
7: 103,332,574 (GRCm39) |
D206E |
probably damaging |
Het |
| Pcdha11 |
C |
T |
18: 37,144,080 (GRCm39) |
T57M |
probably benign |
Het |
| Pkp1 |
A |
T |
1: 135,808,593 (GRCm39) |
I458N |
possibly damaging |
Het |
| Prr12 |
T |
A |
7: 44,700,653 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,532,879 (GRCm39) |
|
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,287,259 (GRCm39) |
F397S |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,806,743 (GRCm39) |
|
probably null |
Het |
| Rsl1 |
A |
G |
13: 67,330,313 (GRCm39) |
T254A |
possibly damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,922,646 (GRCm39) |
Q574R |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,685,849 (GRCm39) |
|
probably null |
Het |
| St6galnac4 |
G |
A |
2: 32,484,075 (GRCm39) |
G91D |
probably damaging |
Het |
| Sytl2 |
T |
C |
7: 90,031,465 (GRCm39) |
|
probably benign |
Het |
| Tbpl2 |
T |
A |
2: 23,983,872 (GRCm39) |
K188N |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,682,172 (GRCm39) |
M2486K |
possibly damaging |
Het |
| Tgoln1 |
A |
C |
6: 72,593,123 (GRCm39) |
V119G |
possibly damaging |
Het |
| Tpgs1 |
A |
T |
10: 79,505,325 (GRCm39) |
N28Y |
probably benign |
Het |
| U2surp |
A |
C |
9: 95,344,847 (GRCm39) |
|
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,869 (GRCm39) |
N459S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,693 (GRCm39) |
S624G |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,826,603 (GRCm39) |
T1415A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,336,154 (GRCm39) |
P147S |
probably damaging |
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 |
|
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 |
38,084,765 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5566:Eif5b
|
UTSW |
1 |
38,090,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Eif5b
|
UTSW |
1 |
38,076,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5978:Eif5b
|
UTSW |
1 |
38,037,361 (GRCm39) |
splice site |
probably null |
|
|
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 |
PCR Primer
(F):5'- GGCTTTCTTTCATGGACACAGTTG -3'
(R):5'- GGGCAAACTTTAAAACAGCAGC -3'
Sequencing Primer
(F):5'- CATGGACACAGTTGTTGTACC -3'
(R):5'- TTAAAACAGCAGCCAAGTCTTAAAGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation