Incidental Mutation 'R2298:Creb3l1'
| ID |
245218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Creb3l1
|
| Ensembl Gene |
ENSMUSG00000027230 |
| Gene Name |
cAMP responsive element binding protein 3-like 1 |
| Synonyms |
BBF-2 (drosophila) homolog, Oasis |
| MMRRC Submission |
040297-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2298 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91812673-91854515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91822321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 222
(P222S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028663]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028663
AA Change: P222S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028663
Gene: ENSMUSG00000027230
AA Change: P222S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
233 |
N/A |
INTRINSIC |
|
BRLZ
|
288 |
352 |
8.06e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal growth retardation, fragile skeleton, and decreased bone density, cortical and trabecular thickness, and osteoblast maturation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,247 (GRCm39) |
D459G |
probably benign |
Het |
| Abhd12 |
C |
A |
2: 150,743,414 (GRCm39) |
|
probably benign |
Het |
| Atcay |
A |
T |
10: 81,046,397 (GRCm39) |
I309N |
probably damaging |
Het |
| Capn8 |
T |
C |
1: 182,440,985 (GRCm39) |
V473A |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,216,454 (GRCm39) |
I220V |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,752,770 (GRCm39) |
A1374V |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,218 (GRCm39) |
L630S |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Erbb4 |
C |
T |
1: 68,081,690 (GRCm39) |
D1115N |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,704,642 (GRCm39) |
L1314F |
possibly damaging |
Het |
| Galm |
T |
A |
17: 80,489,126 (GRCm39) |
C84* |
probably null |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Klf13 |
T |
C |
7: 63,541,504 (GRCm39) |
K208E |
probably damaging |
Het |
| Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
| Lgmn |
A |
G |
12: 102,361,937 (GRCm39) |
F388S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 88,015,930 (GRCm39) |
Y521N |
probably damaging |
Het |
| Myo5b |
G |
T |
18: 74,758,676 (GRCm39) |
R219L |
probably damaging |
Het |
| Myzap |
A |
T |
9: 71,456,039 (GRCm39) |
M327K |
probably damaging |
Het |
| Ngfr |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 95,478,316 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,752 (GRCm39) |
E350G |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,517,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,300,762 (GRCm39) |
I332V |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,937,604 (GRCm39) |
T1690A |
possibly damaging |
Het |
| Traf4 |
T |
A |
11: 78,051,677 (GRCm39) |
D241V |
probably benign |
Het |
| Trpv6 |
A |
G |
6: 41,613,010 (GRCm39) |
I52T |
possibly damaging |
Het |
| Zfp768 |
T |
A |
7: 126,943,361 (GRCm39) |
M256L |
probably benign |
Het |
|
| Other mutations in Creb3l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01765:Creb3l1
|
APN |
2 |
91,854,446 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01963:Creb3l1
|
APN |
2 |
91,823,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02618:Creb3l1
|
APN |
2 |
91,813,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03088:Creb3l1
|
APN |
2 |
91,825,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
carver
|
UTSW |
2 |
91,854,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0609:Creb3l1
|
UTSW |
2 |
91,817,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1891:Creb3l1
|
UTSW |
2 |
91,817,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2912:Creb3l1
|
UTSW |
2 |
91,817,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3084:Creb3l1
|
UTSW |
2 |
91,825,789 (GRCm39) |
splice site |
probably null |
|
|
R3085:Creb3l1
|
UTSW |
2 |
91,825,789 (GRCm39) |
splice site |
probably null |
|
|
R3151:Creb3l1
|
UTSW |
2 |
91,832,378 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3945:Creb3l1
|
UTSW |
2 |
91,821,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4175:Creb3l1
|
UTSW |
2 |
91,813,520 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4302:Creb3l1
|
UTSW |
2 |
91,823,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Creb3l1
|
UTSW |
2 |
91,813,571 (GRCm39) |
missense |
probably benign |
|
|
R5035:Creb3l1
|
UTSW |
2 |
91,817,431 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5684:Creb3l1
|
UTSW |
2 |
91,821,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Creb3l1
|
UTSW |
2 |
91,816,608 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5860:Creb3l1
|
UTSW |
2 |
91,854,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6144:Creb3l1
|
UTSW |
2 |
91,822,350 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6171:Creb3l1
|
UTSW |
2 |
91,821,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6239:Creb3l1
|
UTSW |
2 |
91,825,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8353:Creb3l1
|
UTSW |
2 |
91,821,274 (GRCm39) |
nonsense |
probably null |
|
|
R8453:Creb3l1
|
UTSW |
2 |
91,821,274 (GRCm39) |
nonsense |
probably null |
|
|
R9348:Creb3l1
|
UTSW |
2 |
91,822,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9350:Creb3l1
|
UTSW |
2 |
91,822,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9409:Creb3l1
|
UTSW |
2 |
91,822,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9410:Creb3l1
|
UTSW |
2 |
91,822,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9413:Creb3l1
|
UTSW |
2 |
91,822,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9465:Creb3l1
|
UTSW |
2 |
91,822,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9466:Creb3l1
|
UTSW |
2 |
91,822,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9479:Creb3l1
|
UTSW |
2 |
91,822,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9493:Creb3l1
|
UTSW |
2 |
91,822,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9579:Creb3l1
|
UTSW |
2 |
91,822,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGTGTCAGACTTGGGGCTC -3'
(R):5'- TAGGGGCATCTGATACCCAG -3'
Sequencing Primer
(F):5'- AGACTTGGGGCTCCCTGAC -3'
(R):5'- CATCTGATACCCAGCTCGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation