Incidental Mutation 'R4038:Creb3l3'
| ID |
313803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creb3l3
|
| Ensembl Gene |
ENSMUSG00000035041 |
| Gene Name |
cAMP responsive element binding protein 3-like 3 |
| Synonyms |
CREB-H, D10Bur1e |
| MMRRC Submission |
040965-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4038 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80920163-80934706 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80925172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 224
(V224A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117422]
|
| AlphaFold |
Q91XE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117422
AA Change: V224A
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000112836
Gene: ENSMUSG00000035041
AA Change: V224A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
| Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,772,073 (GRCm39) |
I82V |
possibly damaging |
Het |
| Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc28a2 |
C |
A |
2: 122,284,996 (GRCm39) |
A328E |
probably benign |
Het |
| Ssc4d |
C |
A |
5: 135,999,170 (GRCm39) |
W11L |
possibly damaging |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Tfap2c |
A |
T |
2: 172,398,110 (GRCm39) |
S413C |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
Het |
|
| Other mutations in Creb3l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01387:Creb3l3
|
APN |
10 |
80,927,110 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTATCCCCAGGCACGTAC -3'
(R):5'- TCTGTCAATCAAGCGATCCTC -3'
Sequencing Primer
(F):5'- AGGCACGTACTCCAGGCAC -3'
(R):5'- CTAAATTTCCTAGGTGGGTCTTGAAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation