Incidental Mutation 'IGL02114:Creb5'
| ID |
280312 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Creb5
|
| Ensembl Gene |
ENSMUSG00000053007 |
| Gene Name |
cAMP responsive element binding protein 5 |
| Synonyms |
D430026C09Rik, Crebpa, 9430076C15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
53264255-53677361 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 53581443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047450]
[ENSMUST00000203487]
[ENSMUST00000203528]
[ENSMUST00000203641]
[ENSMUST00000205120]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047450
|
| SMART Domains |
Protein: ENSMUSP00000038532
Gene: ENSMUSG00000053007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
211 |
N/A |
INTRINSIC |
|
BRLZ
|
222 |
286 |
1.91e-20 |
SMART |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203487
|
| SMART Domains |
Protein: ENSMUSP00000144851
Gene: ENSMUSG00000053007
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
16 |
40 |
7.9e-5 |
SMART |
|
low complexity region
|
268 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
BRLZ
|
373 |
437 |
8e-23 |
SMART |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
495 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203528
|
| SMART Domains |
Protein: ENSMUSP00000144979
Gene: ENSMUSG00000053007
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
9 |
33 |
7.9e-5 |
SMART |
|
low complexity region
|
261 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
BRLZ
|
366 |
430 |
8e-23 |
SMART |
|
low complexity region
|
448 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205120
|
| SMART Domains |
Protein: ENSMUSP00000144719
Gene: ENSMUSG00000053007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
211 |
N/A |
INTRINSIC |
|
BRLZ
|
222 |
286 |
1.91e-20 |
SMART |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
344 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700084J12Rik |
C |
A |
15: 33,405,844 (GRCm39) |
|
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,959 (GRCm39) |
V526A |
probably damaging |
Het |
| Ano6 |
C |
A |
15: 95,841,341 (GRCm39) |
S479R |
probably damaging |
Het |
| Aqp8 |
C |
A |
7: 123,063,419 (GRCm39) |
H90N |
probably damaging |
Het |
| Arih1 |
A |
T |
9: 59,333,452 (GRCm39) |
C229S |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,644,398 (GRCm39) |
|
probably null |
Het |
| Cp |
A |
G |
3: 20,020,511 (GRCm39) |
E168G |
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,617 (GRCm39) |
Y42* |
probably null |
Het |
| Cyp2c66 |
C |
A |
19: 39,159,519 (GRCm39) |
|
probably benign |
Het |
| Dcpp2 |
C |
A |
17: 24,119,609 (GRCm39) |
A141D |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,397,270 (GRCm39) |
D3321G |
probably damaging |
Het |
| Ecsit |
T |
C |
9: 21,989,440 (GRCm39) |
|
probably benign |
Het |
| Gabra1 |
T |
C |
11: 42,026,402 (GRCm39) |
I297V |
probably damaging |
Het |
| Gja8 |
T |
C |
3: 96,827,341 (GRCm39) |
K107R |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,739 (GRCm39) |
L30Q |
probably null |
Het |
| Hbp1 |
T |
C |
12: 31,980,674 (GRCm39) |
|
probably benign |
Het |
| Inhbc |
T |
C |
10: 127,205,971 (GRCm39) |
I99V |
probably benign |
Het |
| Kcne3 |
T |
A |
7: 99,833,697 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,947,881 (GRCm39) |
Y926H |
probably damaging |
Het |
| Lhfpl5 |
G |
T |
17: 28,795,149 (GRCm39) |
A59S |
possibly damaging |
Het |
| Mov10 |
T |
A |
3: 104,702,634 (GRCm39) |
|
probably benign |
Het |
| Myl12b |
A |
T |
17: 71,284,164 (GRCm39) |
N21K |
possibly damaging |
Het |
| Ncoa7 |
A |
T |
10: 30,538,360 (GRCm39) |
V675E |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,425,444 (GRCm39) |
I255T |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,661,083 (GRCm39) |
|
probably benign |
Het |
| Or13c3 |
T |
A |
4: 52,856,144 (GRCm39) |
Y123F |
probably damaging |
Het |
| Otop2 |
A |
T |
11: 115,217,806 (GRCm39) |
D214V |
possibly damaging |
Het |
| Plec |
C |
A |
15: 76,057,748 (GRCm39) |
G3928V |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,356,047 (GRCm39) |
E176G |
probably damaging |
Het |
| Qdpr |
G |
A |
5: 45,592,018 (GRCm39) |
T106I |
possibly damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,319,978 (GRCm39) |
M481R |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Skic2 |
C |
T |
17: 35,060,092 (GRCm39) |
V145M |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,842,120 (GRCm39) |
V15D |
probably damaging |
Het |
| Stat4 |
T |
C |
1: 52,142,024 (GRCm39) |
S624P |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,935,321 (GRCm39) |
L1380Q |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,415,004 (GRCm39) |
I286V |
possibly damaging |
Het |
| Vmn2r30 |
T |
C |
7: 7,340,408 (GRCm39) |
I29V |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,959,843 (GRCm39) |
Q561R |
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,403,150 (GRCm39) |
F535L |
probably benign |
Het |
|
| Other mutations in Creb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02475:Creb5
|
APN |
6 |
53,670,909 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02663:Creb5
|
APN |
6 |
53,657,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0054:Creb5
|
UTSW |
6 |
53,424,642 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0452:Creb5
|
UTSW |
6 |
53,581,527 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4580:Creb5
|
UTSW |
6 |
53,581,519 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4809:Creb5
|
UTSW |
6 |
53,587,411 (GRCm39) |
missense |
probably null |
0.71 |
|
R4957:Creb5
|
UTSW |
6 |
53,670,907 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5375:Creb5
|
UTSW |
6 |
53,658,002 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6552:Creb5
|
UTSW |
6 |
53,662,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6616:Creb5
|
UTSW |
6 |
53,662,295 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6679:Creb5
|
UTSW |
6 |
53,662,454 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6745:Creb5
|
UTSW |
6 |
53,581,517 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7428:Creb5
|
UTSW |
6 |
53,658,143 (GRCm39) |
missense |
unknown |
|
|
R7581:Creb5
|
UTSW |
6 |
53,658,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8301:Creb5
|
UTSW |
6 |
53,658,018 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9574:Creb5
|
UTSW |
6 |
53,658,039 (GRCm39) |
missense |
unknown |
|
|
X0065:Creb5
|
UTSW |
6 |
53,662,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-04-16 |
Incidental Mutation