Incidental Mutation 'R1636:Eif2b4'
ID |
173151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif2b4
|
Ensembl Gene |
ENSMUSG00000029145 |
Gene Name |
eukaryotic translation initiation factor 2B, subunit 4 delta |
Synonyms |
Eif2b |
MMRRC Submission |
039672-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1636 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31344902-31350483 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 31349610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144688
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031029]
[ENSMUST00000077693]
[ENSMUST00000114603]
[ENSMUST00000166769]
[ENSMUST00000200730]
[ENSMUST00000201154]
[ENSMUST00000201535]
[ENSMUST00000202124]
[ENSMUST00000201679]
[ENSMUST00000202758]
|
AlphaFold |
Q61749 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031029
|
SMART Domains |
Protein: ENSMUSP00000031029 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
PX
|
1 |
105 |
3.42e-24 |
SMART |
B41
|
113 |
274 |
4.05e-2 |
SMART |
low complexity region
|
324 |
342 |
N/A |
INTRINSIC |
low complexity region
|
428 |
441 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077693
AA Change: Q33L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000076875 Gene: ENSMUSG00000029145 AA Change: Q33L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
coiled coil region
|
29 |
60 |
N/A |
INTRINSIC |
coiled coil region
|
93 |
122 |
N/A |
INTRINSIC |
Pfam:IF-2B
|
219 |
510 |
3.4e-97 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114603
AA Change: Q53L
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110250 Gene: ENSMUSG00000029145 AA Change: Q53L
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
coiled coil region
|
113 |
142 |
N/A |
INTRINSIC |
Pfam:IF-2B
|
239 |
530 |
3.8e-97 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114605
AA Change: Q75L
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110252 Gene: ENSMUSG00000029145 AA Change: Q75L
Domain | Start | End | E-Value | Type |
coiled coil region
|
71 |
102 |
N/A |
INTRINSIC |
coiled coil region
|
135 |
164 |
N/A |
INTRINSIC |
Pfam:IF-2B
|
261 |
552 |
2.3e-97 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166769
AA Change: Q53L
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130880 Gene: ENSMUSG00000029145 AA Change: Q53L
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
coiled coil region
|
113 |
142 |
N/A |
INTRINSIC |
Pfam:IF-2B
|
239 |
530 |
3.8e-97 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200724
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200730
|
SMART Domains |
Protein: ENSMUSP00000144504 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
PX
|
1 |
87 |
2.3e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201154
AA Change: Q53L
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143802 Gene: ENSMUSG00000029145 AA Change: Q53L
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
coiled coil region
|
49 |
80 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202323
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200983
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202032
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202318
|
Predicted Effect |
probably null
Transcript: ENSMUST00000201535
|
SMART Domains |
Protein: ENSMUSP00000144643 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
Blast:PX
|
1 |
23 |
3e-7 |
BLAST |
PDB:3LUI|C
|
1 |
23 |
3e-8 |
PDB |
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
Blast:B41
|
36 |
169 |
5e-92 |
BLAST |
PDB:4GXB|A
|
36 |
169 |
4e-90 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202124
|
SMART Domains |
Protein: ENSMUSP00000144168 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
Blast:PX
|
1 |
31 |
6e-8 |
BLAST |
PDB:3LUI|C
|
1 |
31 |
4e-9 |
PDB |
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200977
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200741
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200929
|
Predicted Effect |
probably null
Transcript: ENSMUST00000201679
|
SMART Domains |
Protein: ENSMUSP00000144688 Gene: ENSMUSG00000029146
Domain | Start | End | E-Value | Type |
Pfam:PX
|
6 |
67 |
2.7e-9 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202758
AA Change: Q75L
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000144361 Gene: ENSMUSG00000029145 AA Change: Q75L
Domain | Start | End | E-Value | Type |
coiled coil region
|
71 |
102 |
N/A |
INTRINSIC |
coiled coil region
|
135 |
164 |
N/A |
INTRINSIC |
Pfam:IF-2B
|
261 |
552 |
2.3e-97 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202616
|
Meta Mutation Damage Score |
0.0828 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.1%
|
Validation Efficiency |
96% (85/89) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
Abca7 |
A |
G |
10: 79,844,832 (GRCm39) |
H1518R |
probably benign |
Het |
Adam4 |
A |
G |
12: 81,466,464 (GRCm39) |
L719S |
probably damaging |
Het |
Adprm |
T |
C |
11: 66,932,549 (GRCm39) |
Y120C |
possibly damaging |
Het |
Arhgap25 |
T |
A |
6: 87,472,923 (GRCm39) |
Y78F |
probably damaging |
Het |
Asap1 |
G |
A |
15: 63,995,761 (GRCm39) |
P665L |
probably damaging |
Het |
Bank1 |
T |
C |
3: 135,788,987 (GRCm39) |
K637R |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,966,898 (GRCm39) |
L502M |
probably damaging |
Het |
Brwd1 |
A |
G |
16: 95,860,841 (GRCm39) |
L315P |
probably damaging |
Het |
Btbd7 |
A |
T |
12: 102,760,110 (GRCm39) |
Y613N |
probably damaging |
Het |
Cdca7l |
G |
A |
12: 117,840,663 (GRCm39) |
R395H |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,226,156 (GRCm39) |
I368K |
probably damaging |
Het |
D6Wsu163e |
T |
C |
6: 126,923,564 (GRCm39) |
V150A |
possibly damaging |
Het |
Ddx52 |
A |
G |
11: 83,846,169 (GRCm39) |
T470A |
probably damaging |
Het |
Def6 |
A |
G |
17: 28,442,892 (GRCm39) |
E316G |
possibly damaging |
Het |
Dip2a |
A |
T |
10: 76,157,412 (GRCm39) |
N64K |
probably benign |
Het |
Dlgap4 |
G |
T |
2: 156,587,997 (GRCm39) |
E631* |
probably null |
Het |
Dner |
T |
C |
1: 84,563,051 (GRCm39) |
K190E |
possibly damaging |
Het |
Eif3a |
A |
T |
19: 60,770,343 (GRCm39) |
D119E |
possibly damaging |
Het |
Ercc2 |
C |
T |
7: 19,121,049 (GRCm39) |
T276M |
possibly damaging |
Het |
Exoc1 |
A |
G |
5: 76,715,965 (GRCm39) |
K830R |
probably benign |
Het |
F2r |
G |
T |
13: 95,740,400 (GRCm39) |
Y378* |
probably null |
Het |
Fam186a |
G |
A |
15: 99,839,539 (GRCm39) |
T2235I |
unknown |
Het |
Fmo3 |
T |
G |
1: 162,781,994 (GRCm39) |
K453T |
probably benign |
Het |
Fzd3 |
A |
T |
14: 65,490,555 (GRCm39) |
D9E |
probably benign |
Het |
Galns |
A |
G |
8: 123,330,955 (GRCm39) |
|
probably benign |
Het |
Gm1818 |
T |
C |
12: 48,602,550 (GRCm39) |
|
noncoding transcript |
Het |
Gm9955 |
C |
A |
18: 24,842,287 (GRCm39) |
|
probably benign |
Het |
Immp2l |
T |
C |
12: 41,750,470 (GRCm39) |
V113A |
probably damaging |
Het |
Iyd |
T |
A |
10: 3,495,588 (GRCm39) |
M82K |
possibly damaging |
Het |
Kif21a |
A |
T |
15: 90,869,008 (GRCm39) |
|
probably benign |
Het |
Lipf |
A |
G |
19: 33,953,935 (GRCm39) |
D342G |
probably damaging |
Het |
Lmbrd1 |
C |
A |
1: 24,786,011 (GRCm39) |
Y435* |
probably null |
Het |
Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
Mtrf1l |
A |
G |
10: 5,763,265 (GRCm39) |
S355P |
probably damaging |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Neo1 |
T |
C |
9: 58,820,560 (GRCm39) |
S788G |
probably damaging |
Het |
Nfx1 |
T |
G |
4: 41,016,072 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
T |
C |
7: 6,069,737 (GRCm39) |
V546A |
possibly damaging |
Het |
Nwd2 |
G |
A |
5: 63,964,900 (GRCm39) |
V1495M |
probably damaging |
Het |
Oaf |
T |
A |
9: 43,150,621 (GRCm39) |
I84F |
probably benign |
Het |
Obscn |
A |
G |
11: 59,013,463 (GRCm39) |
F1153S |
probably damaging |
Het |
Ofcc1 |
A |
T |
13: 40,333,904 (GRCm39) |
C396S |
possibly damaging |
Het |
Omg |
A |
G |
11: 79,393,166 (GRCm39) |
S231P |
probably benign |
Het |
Or51a7 |
T |
G |
7: 102,614,898 (GRCm39) |
I197S |
possibly damaging |
Het |
Or8g35 |
T |
C |
9: 39,381,215 (GRCm39) |
D269G |
probably benign |
Het |
Pdcl3 |
A |
G |
1: 39,034,016 (GRCm39) |
T53A |
possibly damaging |
Het |
Pik3r2 |
A |
T |
8: 71,224,542 (GRCm39) |
H244Q |
probably benign |
Het |
Pinx1 |
A |
T |
14: 64,103,586 (GRCm39) |
H55L |
probably damaging |
Het |
Pwwp2b |
T |
A |
7: 138,834,758 (GRCm39) |
H66Q |
probably benign |
Het |
Rell2 |
A |
G |
18: 38,091,132 (GRCm39) |
D99G |
probably damaging |
Het |
Reln |
G |
A |
5: 22,203,681 (GRCm39) |
A1191V |
probably damaging |
Het |
Rprm |
T |
C |
2: 53,975,316 (GRCm39) |
M1V |
probably null |
Het |
Sav1 |
A |
C |
12: 70,031,269 (GRCm39) |
H84Q |
probably benign |
Het |
Scamp5 |
T |
C |
9: 57,358,692 (GRCm39) |
D28G |
possibly damaging |
Het |
Selenbp2 |
G |
A |
3: 94,604,122 (GRCm39) |
G9D |
probably damaging |
Het |
Sh3tc2 |
T |
C |
18: 62,122,792 (GRCm39) |
W518R |
probably damaging |
Het |
Slc10a6 |
A |
T |
5: 103,777,012 (GRCm39) |
N29K |
probably benign |
Het |
Spindoc |
C |
A |
19: 7,351,922 (GRCm39) |
D142Y |
probably damaging |
Het |
Spink12 |
T |
A |
18: 44,240,795 (GRCm39) |
D60E |
probably benign |
Het |
Sugt1 |
A |
G |
14: 79,825,422 (GRCm39) |
I23V |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,051,506 (GRCm39) |
C4079R |
probably benign |
Het |
Tex15 |
T |
G |
8: 34,066,415 (GRCm39) |
Y1948* |
probably null |
Het |
Thoc2l |
T |
A |
5: 104,668,616 (GRCm39) |
M1046K |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,213,814 (GRCm39) |
E321G |
probably damaging |
Het |
Tmem198b |
A |
G |
10: 128,638,065 (GRCm39) |
L166P |
probably damaging |
Het |
Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,730,566 (GRCm39) |
|
probably benign |
Het |
Unc13a |
G |
A |
8: 72,106,034 (GRCm39) |
T690I |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,198,373 (GRCm39) |
I1479T |
possibly damaging |
Het |
Vcan |
G |
A |
13: 89,851,786 (GRCm39) |
T1058I |
possibly damaging |
Het |
Vmn1r84 |
T |
C |
7: 12,096,522 (GRCm39) |
Q45R |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,790,380 (GRCm39) |
N209D |
probably damaging |
Het |
Wbp1l |
A |
G |
19: 46,632,883 (GRCm39) |
Y40C |
probably damaging |
Het |
Wdr72 |
A |
T |
9: 74,086,907 (GRCm39) |
H625L |
probably benign |
Het |
Zeb2 |
T |
C |
2: 44,892,623 (GRCm39) |
Y195C |
probably damaging |
Het |
Zkscan6 |
C |
T |
11: 65,705,256 (GRCm39) |
|
probably benign |
Het |
Zmym6 |
C |
A |
4: 127,017,560 (GRCm39) |
H1022N |
probably damaging |
Het |
|
Other mutations in Eif2b4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01469:Eif2b4
|
APN |
5 |
31,345,111 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02525:Eif2b4
|
APN |
5 |
31,346,962 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03178:Eif2b4
|
APN |
5 |
31,344,997 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03267:Eif2b4
|
APN |
5 |
31,350,003 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03379:Eif2b4
|
APN |
5 |
31,347,355 (GRCm39) |
splice site |
probably benign |
|
IGL03397:Eif2b4
|
APN |
5 |
31,344,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R0346:Eif2b4
|
UTSW |
5 |
31,345,452 (GRCm39) |
splice site |
probably benign |
|
R1549:Eif2b4
|
UTSW |
5 |
31,350,265 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1753:Eif2b4
|
UTSW |
5 |
31,350,284 (GRCm39) |
missense |
probably benign |
0.00 |
R2263:Eif2b4
|
UTSW |
5 |
31,349,918 (GRCm39) |
splice site |
probably benign |
|
R2317:Eif2b4
|
UTSW |
5 |
31,348,920 (GRCm39) |
splice site |
probably null |
|
R3808:Eif2b4
|
UTSW |
5 |
31,348,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3809:Eif2b4
|
UTSW |
5 |
31,348,512 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4746:Eif2b4
|
UTSW |
5 |
31,344,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R4752:Eif2b4
|
UTSW |
5 |
31,348,575 (GRCm39) |
nonsense |
probably null |
|
R4798:Eif2b4
|
UTSW |
5 |
31,346,864 (GRCm39) |
intron |
probably benign |
|
R4895:Eif2b4
|
UTSW |
5 |
31,350,298 (GRCm39) |
missense |
probably benign |
0.00 |
R4936:Eif2b4
|
UTSW |
5 |
31,350,241 (GRCm39) |
missense |
probably benign |
0.00 |
R5588:Eif2b4
|
UTSW |
5 |
31,349,517 (GRCm39) |
nonsense |
probably null |
|
R5660:Eif2b4
|
UTSW |
5 |
31,348,500 (GRCm39) |
missense |
probably benign |
0.00 |
R6363:Eif2b4
|
UTSW |
5 |
31,348,583 (GRCm39) |
missense |
probably damaging |
0.99 |
R6653:Eif2b4
|
UTSW |
5 |
31,349,551 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6750:Eif2b4
|
UTSW |
5 |
31,347,304 (GRCm39) |
missense |
probably damaging |
0.99 |
R7062:Eif2b4
|
UTSW |
5 |
31,350,175 (GRCm39) |
missense |
probably benign |
|
R7221:Eif2b4
|
UTSW |
5 |
31,345,131 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7360:Eif2b4
|
UTSW |
5 |
31,348,719 (GRCm39) |
missense |
probably benign |
0.08 |
R7779:Eif2b4
|
UTSW |
5 |
31,347,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:Eif2b4
|
UTSW |
5 |
31,345,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R8848:Eif2b4
|
UTSW |
5 |
31,348,210 (GRCm39) |
missense |
probably damaging |
0.99 |
R8990:Eif2b4
|
UTSW |
5 |
31,347,971 (GRCm39) |
missense |
probably benign |
0.00 |
R9170:Eif2b4
|
UTSW |
5 |
31,345,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R9377:Eif2b4
|
UTSW |
5 |
31,348,500 (GRCm39) |
missense |
probably benign |
|
R9458:Eif2b4
|
UTSW |
5 |
31,350,609 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CATCAGGCTCTGCCTTCCAAGTAAC -3'
(R):5'- CTAAGTCGCCTGTCAAGAGCTACAC -3'
Sequencing Primer
(F):5'- AAGTAACCGCTTTTGTACTTGC -3'
(R):5'- CTGGGAGATTTTACAGAGCTTAACG -3'
|
Posted On |
2014-04-24 |