Incidental Mutation 'R0673:Ei24'
| ID |
61524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ei24
|
| Ensembl Gene |
ENSMUSG00000062762 |
| Gene Name |
etoposide induced 2.4 mRNA |
| Synonyms |
PIG8 |
| MMRRC Submission |
038858-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0673 (G1)
|
| Quality Score |
147 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
36690449-36708630 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to G
at 36699551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115086]
[ENSMUST00000163192]
[ENSMUST00000184395]
|
| AlphaFold |
Q61070 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115086
|
| SMART Domains |
Protein: ENSMUSP00000110738
Gene: ENSMUSG00000062762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EI24
|
61 |
290 |
2.5e-48 |
PFAM |
|
low complexity region
|
331 |
339 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163192
|
| SMART Domains |
Protein: ENSMUSP00000132270
Gene: ENSMUSG00000062762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
71 |
N/A |
INTRINSIC |
|
Pfam:EI24
|
77 |
289 |
3.8e-24 |
PFAM |
|
low complexity region
|
331 |
339 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183360
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183430
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184235
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000184395
|
| SMART Domains |
Protein: ENSMUSP00000139150
Gene: ENSMUSG00000062762
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EI24
|
58 |
181 |
4.8e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217339
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a targeted allele do not survive to the neonatal stage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
C |
T |
17: 46,043,999 (GRCm39) |
W86* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,224,642 (GRCm39) |
P894S |
probably damaging |
Het |
| Adgrg7 |
A |
T |
16: 56,593,849 (GRCm39) |
N122K |
possibly damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,323,047 (GRCm39) |
|
probably null |
Het |
| Blm |
A |
T |
7: 80,149,499 (GRCm39) |
|
probably null |
Het |
| Caml |
C |
T |
13: 55,779,641 (GRCm39) |
T238M |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,624,440 (GRCm39) |
V411D |
possibly damaging |
Het |
| Cdc25b |
A |
G |
2: 131,039,182 (GRCm39) |
N516D |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,505 (GRCm39) |
I2861T |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,777,336 (GRCm39) |
L1294P |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,351,984 (GRCm39) |
D287G |
possibly damaging |
Het |
| Dgkq |
T |
C |
5: 108,803,455 (GRCm39) |
H217R |
probably damaging |
Het |
| Disp2 |
A |
T |
2: 118,621,325 (GRCm39) |
I686F |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,100,794 (GRCm39) |
N2003I |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,122,647 (GRCm39) |
R92S |
probably damaging |
Het |
| Fgl1 |
G |
T |
8: 41,644,661 (GRCm39) |
T281K |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,271,015 (GRCm39) |
T140A |
probably benign |
Het |
| Gtpbp3 |
A |
T |
8: 71,945,379 (GRCm39) |
I485F |
probably damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Inmt |
A |
C |
6: 55,148,212 (GRCm39) |
V139G |
probably damaging |
Het |
| Inpp5j |
T |
A |
11: 3,451,147 (GRCm39) |
M501L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,062,588 (GRCm39) |
N1647S |
probably damaging |
Het |
| Lgals9 |
A |
G |
11: 78,856,679 (GRCm39) |
F252L |
probably damaging |
Het |
| Lingo3 |
C |
A |
10: 80,671,618 (GRCm39) |
R104L |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,755,544 (GRCm39) |
V440M |
probably damaging |
Het |
| Mybpc3 |
G |
A |
2: 90,950,772 (GRCm39) |
G36D |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,998,773 (GRCm39) |
N1254K |
probably benign |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nudt12 |
A |
T |
17: 59,314,617 (GRCm39) |
|
probably null |
Het |
| Or2l5 |
A |
G |
16: 19,334,146 (GRCm39) |
M80T |
probably damaging |
Het |
| Or4c3d |
A |
C |
2: 89,882,596 (GRCm39) |
M24R |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Prr14l |
C |
T |
5: 32,986,259 (GRCm39) |
D1079N |
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,808,449 (GRCm39) |
T494A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,447,664 (GRCm39) |
K3237E |
possibly damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,014,280 (GRCm39) |
S415P |
probably benign |
Het |
| Sypl1 |
A |
T |
12: 33,015,420 (GRCm39) |
T40S |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,613,333 (GRCm39) |
|
probably null |
Het |
| Tmed8 |
A |
G |
12: 87,220,878 (GRCm39) |
V236A |
probably damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,588,783 (GRCm39) |
Y257C |
probably damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,058,300 (GRCm39) |
F144S |
probably benign |
Het |
|
| Other mutations in Ei24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00862:Ei24
|
APN |
9 |
36,695,774 (GRCm39) |
nonsense |
probably null |
|
|
IGL00954:Ei24
|
APN |
9 |
36,701,166 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01336:Ei24
|
APN |
9 |
36,697,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01940:Ei24
|
APN |
9 |
36,693,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02112:Ei24
|
APN |
9 |
36,693,638 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02328:Ei24
|
APN |
9 |
36,696,827 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03251:Ei24
|
APN |
9 |
36,691,405 (GRCm39) |
makesense |
probably null |
|
|
PIT4378001:Ei24
|
UTSW |
9 |
36,697,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2047:Ei24
|
UTSW |
9 |
36,691,459 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2280:Ei24
|
UTSW |
9 |
36,693,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4863:Ei24
|
UTSW |
9 |
36,695,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5125:Ei24
|
UTSW |
9 |
36,693,742 (GRCm39) |
unclassified |
probably benign |
|
|
R5999:Ei24
|
UTSW |
9 |
36,704,603 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7515:Ei24
|
UTSW |
9 |
36,701,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8366:Ei24
|
UTSW |
9 |
36,697,800 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8836:Ei24
|
UTSW |
9 |
36,701,498 (GRCm39) |
missense |
|
|
|
R9099:Ei24
|
UTSW |
9 |
36,697,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9156:Ei24
|
UTSW |
9 |
36,697,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9331:Ei24
|
UTSW |
9 |
36,701,217 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9405:Ei24
|
UTSW |
9 |
36,694,137 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAAAGATAAAAGACAATTCACGGAAACA -3'
(R):5'- ACAGAGAGACAGACACACATAACAAAATAACA -3'
Sequencing Primer
(F):5'- ACAATTCACGGAAACAGTTGAG -3'
(R):5'- gtagcaaacacagtaagccatc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation