Incidental Mutation 'IGL01541:Eif2b1'
ID |
90172 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eif2b1
|
Ensembl Gene |
ENSMUSG00000029388 |
Gene Name |
eukaryotic translation initiation factor 2B, subunit alpha |
Synonyms |
26kDa, EIF2BA, EIF2B, D5Ertd406e |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
IGL01541
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
124708277-124717194 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124714965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 104
(C104R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031333]
[ENSMUST00000031334]
[ENSMUST00000128920]
[ENSMUST00000135163]
[ENSMUST00000135361]
[ENSMUST00000198318]
|
AlphaFold |
Q99LC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031333
|
SMART Domains |
Protein: ENSMUSP00000031333 Gene: ENSMUSG00000029387
Domain | Start | End | E-Value | Type |
Pfam:Tfb4
|
8 |
287 |
2.1e-108 |
PFAM |
low complexity region
|
299 |
306 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031334
AA Change: C89R
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000031334 Gene: ENSMUSG00000029388 AA Change: C89R
Domain | Start | End | E-Value | Type |
Pfam:IF-2B
|
14 |
293 |
2.3e-81 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126466
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128920
AA Change: C104R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118760 Gene: ENSMUSG00000029388 AA Change: C104R
Domain | Start | End | E-Value | Type |
Pfam:IF-2B
|
28 |
133 |
1e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135163
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135361
AA Change: C89R
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122923 Gene: ENSMUSG00000029388 AA Change: C89R
Domain | Start | End | E-Value | Type |
Pfam:IF-2B
|
13 |
172 |
2.4e-31 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000198318
AA Change: M43T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152716
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200670
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes the alpha subunit of the eukaryotic translation initiation factor complex 2B (eIF2B). The eIF2B complex is a heterodecamer comprised of two molecules each of alpha, beta, gamma, delta and epsilon subunits. The eIF2B complex is a critical regulator of protein synthesis acting as the guanine nucleotide exchange factor for eIF2 to enable the formation of ternary complex that is required for the initiation of mRNA translation. [provided by RefSeq, Aug 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
Adamts10 |
A |
G |
17: 33,762,205 (GRCm39) |
S505G |
probably benign |
Het |
Ahnak |
C |
T |
19: 8,985,243 (GRCm39) |
H2176Y |
possibly damaging |
Het |
Ash1l |
G |
T |
3: 88,973,572 (GRCm39) |
D2544Y |
probably damaging |
Het |
Ccdc88a |
T |
A |
11: 29,350,283 (GRCm39) |
F88L |
probably benign |
Het |
Cdc42bpa |
A |
T |
1: 179,978,723 (GRCm39) |
|
probably null |
Het |
Celsr3 |
T |
C |
9: 108,708,907 (GRCm39) |
V1251A |
probably damaging |
Het |
CN725425 |
T |
A |
15: 91,129,955 (GRCm39) |
F273I |
possibly damaging |
Het |
Ercc3 |
A |
T |
18: 32,381,372 (GRCm39) |
D396V |
possibly damaging |
Het |
Fga |
A |
T |
3: 82,940,014 (GRCm39) |
D556V |
probably damaging |
Het |
Frg1 |
C |
T |
8: 41,863,362 (GRCm39) |
|
probably benign |
Het |
Fto |
T |
C |
8: 92,136,376 (GRCm39) |
Y217H |
probably damaging |
Het |
Garin4 |
A |
T |
1: 190,896,606 (GRCm39) |
Y12* |
probably null |
Het |
Grin3a |
A |
T |
4: 49,792,533 (GRCm39) |
V400E |
probably damaging |
Het |
Gtse1 |
T |
A |
15: 85,759,855 (GRCm39) |
L682* |
probably null |
Het |
Igkv6-32 |
A |
G |
6: 70,051,290 (GRCm39) |
I22T |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
Lamp1 |
T |
C |
8: 13,215,905 (GRCm39) |
C35R |
probably damaging |
Het |
Lzts3 |
A |
T |
2: 130,478,126 (GRCm39) |
L324Q |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,236,069 (GRCm39) |
R453* |
probably null |
Het |
Naa35 |
T |
A |
13: 59,748,777 (GRCm39) |
H132Q |
probably damaging |
Het |
Pgm5 |
C |
A |
19: 24,793,777 (GRCm39) |
G296W |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,805,272 (GRCm39) |
C3275S |
probably damaging |
Het |
Podxl2 |
A |
G |
6: 88,826,331 (GRCm39) |
L325P |
probably benign |
Het |
Prom2 |
A |
G |
2: 127,371,050 (GRCm39) |
|
probably null |
Het |
Rab12 |
T |
C |
17: 66,804,404 (GRCm39) |
S185G |
probably damaging |
Het |
Rnf43 |
T |
G |
11: 87,621,046 (GRCm39) |
M313R |
probably null |
Het |
Rusc2 |
T |
C |
4: 43,415,840 (GRCm39) |
V382A |
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,516,618 (GRCm39) |
|
probably benign |
Het |
Smg6 |
T |
C |
11: 74,816,770 (GRCm39) |
I10T |
probably benign |
Het |
Smpd1 |
T |
C |
7: 105,205,033 (GRCm39) |
F304S |
possibly damaging |
Het |
Spta1 |
G |
A |
1: 174,044,725 (GRCm39) |
V1454I |
probably benign |
Het |
Tdrd7 |
A |
T |
4: 46,018,551 (GRCm39) |
I722F |
possibly damaging |
Het |
Topors |
T |
C |
4: 40,262,364 (GRCm39) |
T307A |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,807,502 (GRCm39) |
R77Q |
probably damaging |
Het |
Vmn1r210 |
C |
T |
13: 23,011,778 (GRCm39) |
M169I |
probably benign |
Het |
Zc3h4 |
A |
G |
7: 16,168,257 (GRCm39) |
S789G |
unknown |
Het |
Zfp629 |
G |
T |
7: 127,211,917 (GRCm39) |
|
probably benign |
Het |
Zfp977 |
C |
A |
7: 42,230,156 (GRCm39) |
R123I |
probably benign |
Het |
|
Other mutations in Eif2b1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00551:Eif2b1
|
APN |
5 |
124,714,932 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01757:Eif2b1
|
APN |
5 |
124,711,203 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03034:Eif2b1
|
APN |
5 |
124,709,894 (GRCm39) |
missense |
probably benign |
0.01 |
R0066:Eif2b1
|
UTSW |
5 |
124,711,858 (GRCm39) |
splice site |
probably null |
|
R0094:Eif2b1
|
UTSW |
5 |
124,709,829 (GRCm39) |
missense |
probably benign |
0.05 |
R2655:Eif2b1
|
UTSW |
5 |
124,714,917 (GRCm39) |
missense |
probably damaging |
0.99 |
R4842:Eif2b1
|
UTSW |
5 |
124,714,971 (GRCm39) |
missense |
probably damaging |
0.98 |
R5347:Eif2b1
|
UTSW |
5 |
124,716,862 (GRCm39) |
intron |
probably benign |
|
R5620:Eif2b1
|
UTSW |
5 |
124,717,075 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5801:Eif2b1
|
UTSW |
5 |
124,712,775 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6481:Eif2b1
|
UTSW |
5 |
124,715,174 (GRCm39) |
missense |
probably benign |
0.34 |
R6659:Eif2b1
|
UTSW |
5 |
124,717,171 (GRCm39) |
unclassified |
probably benign |
|
R6850:Eif2b1
|
UTSW |
5 |
124,717,069 (GRCm39) |
missense |
probably benign |
0.15 |
R7075:Eif2b1
|
UTSW |
5 |
124,709,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R7418:Eif2b1
|
UTSW |
5 |
124,714,893 (GRCm39) |
missense |
probably benign |
0.11 |
R8125:Eif2b1
|
UTSW |
5 |
124,717,162 (GRCm39) |
unclassified |
probably benign |
|
R8144:Eif2b1
|
UTSW |
5 |
124,711,208 (GRCm39) |
missense |
probably damaging |
0.99 |
R9473:Eif2b1
|
UTSW |
5 |
124,712,677 (GRCm39) |
nonsense |
probably null |
|
R9526:Eif2b1
|
UTSW |
5 |
124,711,867 (GRCm39) |
missense |
probably benign |
0.03 |
X0066:Eif2b1
|
UTSW |
5 |
124,717,120 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2013-12-03 |