Incidental Mutation 'IGL01387:Creb3l3'
| ID |
79092 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Creb3l3
|
| Ensembl Gene |
ENSMUSG00000035041 |
| Gene Name |
cAMP responsive element binding protein 3-like 3 |
| Synonyms |
CREB-H, D10Bur1e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80920163-80934706 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80927110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 107
(T107A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117422]
|
| AlphaFold |
Q91XE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117422
AA Change: T107A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112836
Gene: ENSMUSG00000035041
AA Change: T107A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
199 |
N/A |
INTRINSIC |
|
BRLZ
|
237 |
301 |
4.36e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125907
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143969
|
| 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 basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and healthy but exhibit reduced expression of acute phase response proteins following treatment with tunicamycin that induces ER stress. Mice homozygous for a different knock-out allele exhibit resistanceto sulpyrine-induced shock. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,835,596 (GRCm39) |
I288T |
possibly damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,247,794 (GRCm39) |
|
probably null |
Het |
| Ano2 |
T |
C |
6: 125,990,240 (GRCm39) |
L787P |
probably damaging |
Het |
| Arf4 |
A |
T |
14: 26,374,300 (GRCm39) |
I73F |
possibly damaging |
Het |
| Atp6v1e1 |
A |
G |
6: 120,772,732 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
A |
C |
7: 16,018,424 (GRCm39) |
M1R |
probably null |
Het |
| Cep162 |
A |
G |
9: 87,093,864 (GRCm39) |
L838S |
probably benign |
Het |
| Cfap251 |
T |
A |
5: 123,421,609 (GRCm39) |
I654N |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,668,562 (GRCm39) |
|
probably benign |
Het |
| Erlin2 |
T |
C |
8: 27,526,576 (GRCm39) |
L312P |
probably benign |
Het |
| Etv1 |
T |
G |
12: 38,911,326 (GRCm39) |
M384R |
probably damaging |
Het |
| Exph5 |
G |
T |
9: 53,285,265 (GRCm39) |
S782I |
possibly damaging |
Het |
| Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,823,326 (GRCm39) |
N6353S |
possibly damaging |
Het |
| Gk5 |
T |
C |
9: 96,059,607 (GRCm39) |
|
probably null |
Het |
| Gm11168 |
T |
G |
9: 3,005,128 (GRCm39) |
S202R |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,341,310 (GRCm39) |
D1016G |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 69,009,590 (GRCm39) |
|
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,096 (GRCm39) |
V387A |
possibly damaging |
Het |
| Or4a76 |
T |
A |
2: 89,460,964 (GRCm39) |
R93* |
probably null |
Het |
| Or5bw2 |
A |
G |
7: 6,573,854 (GRCm39) |
Y288C |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,853,710 (GRCm39) |
M160K |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,617 (GRCm39) |
L115S |
probably damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,594 (GRCm39) |
T153A |
probably benign |
Het |
| Plekhs1 |
A |
G |
19: 56,459,403 (GRCm39) |
Q51R |
probably benign |
Het |
| Rab27b |
T |
A |
18: 70,118,380 (GRCm39) |
D179V |
possibly damaging |
Het |
| Rprd2 |
C |
T |
3: 95,672,631 (GRCm39) |
R924H |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,045,998 (GRCm39) |
I905T |
probably damaging |
Het |
| Trpm8 |
T |
C |
1: 88,271,009 (GRCm39) |
L433P |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,554,649 (GRCm39) |
L1861S |
possibly damaging |
Het |
| Vmn2r124 |
C |
A |
17: 18,283,188 (GRCm39) |
T294K |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,288,656 (GRCm39) |
C37* |
probably null |
Het |
|
| Other mutations in Creb3l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02651:Creb3l3
|
APN |
10 |
80,920,668 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03093:Creb3l3
|
APN |
10 |
80,927,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
Shinsplint
|
UTSW |
10 |
80,925,301 (GRCm39) |
splice site |
probably null |
|
|
PIT4382001:Creb3l3
|
UTSW |
10 |
80,920,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0501:Creb3l3
|
UTSW |
10 |
80,922,416 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2421:Creb3l3
|
UTSW |
10 |
80,927,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2567:Creb3l3
|
UTSW |
10 |
80,921,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4038:Creb3l3
|
UTSW |
10 |
80,925,172 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4748:Creb3l3
|
UTSW |
10 |
80,921,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5596:Creb3l3
|
UTSW |
10 |
80,920,881 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5814:Creb3l3
|
UTSW |
10 |
80,921,496 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5889:Creb3l3
|
UTSW |
10 |
80,928,367 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6135:Creb3l3
|
UTSW |
10 |
80,921,552 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6299:Creb3l3
|
UTSW |
10 |
80,924,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6721:Creb3l3
|
UTSW |
10 |
80,926,977 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7472:Creb3l3
|
UTSW |
10 |
80,925,301 (GRCm39) |
splice site |
probably null |
|
|
R7761:Creb3l3
|
UTSW |
10 |
80,920,833 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9074:Creb3l3
|
UTSW |
10 |
80,924,452 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9607:Creb3l3
|
UTSW |
10 |
80,920,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-11-05 |
Incidental Mutation