Incidental Mutation 'IGL01129:Creb3l2'
| ID |
51358 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Creb3l2
|
| Ensembl Gene |
ENSMUSG00000038648 |
| Gene Name |
cAMP responsive element binding protein 3-like 2 |
| Synonyms |
BBF2H7, C530025K05Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.424)
|
| Stock # |
IGL01129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
37307956-37419083 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 37330569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041093]
|
| AlphaFold |
Q8BH52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041093
|
| SMART Domains |
Protein: ENSMUSP00000040208
Gene: ENSMUSG00000038648
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
203 |
220 |
N/A |
INTRINSIC |
|
BRLZ
|
292 |
356 |
1.25e-15 |
SMART |
|
low complexity region
|
436 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
469 |
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.] This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe chondrodysplasia and die shortly after first birth from suffocation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
A |
T |
X: 66,964,210 (GRCm39) |
F216L |
possibly damaging |
Het |
| Bace2 |
T |
G |
16: 97,209,630 (GRCm39) |
N181K |
probably damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ckap2 |
C |
T |
8: 22,659,774 (GRCm39) |
G569D |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,979,522 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Cuedc1 |
T |
A |
11: 88,074,080 (GRCm39) |
S205T |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,333,572 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,035,089 (GRCm39) |
M256V |
probably benign |
Het |
| Gzf1 |
C |
A |
2: 148,532,916 (GRCm39) |
P690Q |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,815,335 (GRCm39) |
D575E |
probably benign |
Het |
| Lypd3 |
A |
G |
7: 24,340,018 (GRCm39) |
M362V |
probably benign |
Het |
| Mppe1 |
C |
A |
18: 67,370,515 (GRCm39) |
G61* |
probably null |
Het |
| Nr2c2 |
T |
A |
6: 92,135,397 (GRCm39) |
D328E |
probably benign |
Het |
| Or6b9 |
T |
C |
7: 106,555,634 (GRCm39) |
N170D |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,505 (GRCm39) |
V114E |
probably damaging |
Het |
| Rab14 |
T |
C |
2: 35,073,398 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
G |
T |
5: 67,499,486 (GRCm39) |
G315C |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,935,681 (GRCm39) |
S303C |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,967,333 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,120,823 (GRCm39) |
V161A |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,297,593 (GRCm39) |
|
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,482 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,165 (GRCm39) |
T259S |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,573,439 (GRCm39) |
D1527N |
probably damaging |
Het |
|
| Other mutations in Creb3l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0611:Creb3l2
|
UTSW |
6 |
37,311,416 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0634:Creb3l2
|
UTSW |
6 |
37,311,283 (GRCm39) |
splice site |
probably benign |
|
|
R3755:Creb3l2
|
UTSW |
6 |
37,340,961 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3808:Creb3l2
|
UTSW |
6 |
37,332,625 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4060:Creb3l2
|
UTSW |
6 |
37,311,484 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4771:Creb3l2
|
UTSW |
6 |
37,311,512 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6031:Creb3l2
|
UTSW |
6 |
37,311,369 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6031:Creb3l2
|
UTSW |
6 |
37,311,369 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7051:Creb3l2
|
UTSW |
6 |
37,313,200 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7381:Creb3l2
|
UTSW |
6 |
37,312,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Creb3l2
|
UTSW |
6 |
37,356,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7868:Creb3l2
|
UTSW |
6 |
37,312,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9091:Creb3l2
|
UTSW |
6 |
37,332,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9240:Creb3l2
|
UTSW |
6 |
37,311,506 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9270:Creb3l2
|
UTSW |
6 |
37,332,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Creb3l2
|
UTSW |
6 |
37,356,751 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9476:Creb3l2
|
UTSW |
6 |
37,311,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Creb3l2
|
UTSW |
6 |
37,311,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Creb3l2
|
UTSW |
6 |
37,356,808 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9663:Creb3l2
|
UTSW |
6 |
37,356,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation