Incidental Mutation 'R4525:Cer1'
| ID |
334402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cer1
|
| Ensembl Gene |
ENSMUSG00000038192 |
| Gene Name |
cerberus 1, DAN family BMP antagonist |
| Synonyms |
Cerl, cer-1, Cerberus-like, Cerl1, Cerr1 |
| MMRRC Submission |
041767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4525 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
82799988-82803385 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82802906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 139
(F139L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048430]
|
| AlphaFold |
O55233 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048430
AA Change: F139L
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048607
Gene: ENSMUSG00000038192
AA Change: F139L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
CT
|
164 |
246 |
1.73e-28 |
SMART |
|
| Meta Mutation Damage Score |
0.0784 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for most disruptions in this gene appear normal although one allele displays behavioral abnormalities and a mild increase in body weight with age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
A |
G |
2: 32,464,388 (GRCm39) |
|
probably benign |
Het |
| Ampd1 |
T |
C |
3: 103,002,049 (GRCm39) |
V510A |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,609 (GRCm39) |
Y495C |
probably damaging |
Het |
| Asap2 |
G |
A |
12: 21,279,293 (GRCm39) |
|
probably null |
Het |
| Cd47 |
T |
C |
16: 49,688,155 (GRCm39) |
V25A |
probably benign |
Het |
| Cpne3 |
G |
T |
4: 19,523,206 (GRCm39) |
P527H |
probably damaging |
Het |
| Erbin |
T |
C |
13: 103,993,600 (GRCm39) |
I347V |
probably benign |
Het |
| Gm17542 |
T |
C |
10: 58,549,435 (GRCm39) |
D31G |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,309,289 (GRCm39) |
C510S |
probably benign |
Het |
| Hnrnpk |
A |
G |
13: 58,541,696 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
T |
A |
9: 106,447,827 (GRCm39) |
Q27H |
possibly damaging |
Het |
| Kcna4 |
C |
A |
2: 107,125,410 (GRCm39) |
T48K |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,444,608 (GRCm39) |
C336S |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,796,387 (GRCm39) |
T306A |
probably benign |
Het |
| Oplah |
G |
T |
15: 76,189,709 (GRCm39) |
L176M |
probably damaging |
Het |
| Pon1 |
T |
C |
6: 5,177,412 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,966 (GRCm39) |
I3932T |
probably damaging |
Het |
| Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
| Sipa1 |
T |
A |
19: 5,701,985 (GRCm39) |
Q947L |
probably benign |
Het |
| Slit2 |
G |
T |
5: 48,407,215 (GRCm39) |
C882F |
probably damaging |
Het |
| Speer4a1 |
A |
T |
5: 26,244,341 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,034,676 (GRCm39) |
D1035G |
probably null |
Het |
| Tas2r140 |
T |
C |
6: 133,032,207 (GRCm39) |
T184A |
possibly damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Tmem161b |
T |
C |
13: 84,405,921 (GRCm39) |
I50T |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,561,397 (GRCm39) |
N628D |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,779,005 (GRCm39) |
T102A |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
Het |
|
| Other mutations in Cer1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Cer1
|
APN |
4 |
82,801,068 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01586:Cer1
|
APN |
4 |
82,803,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03344:Cer1
|
APN |
4 |
82,803,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2017:Cer1
|
UTSW |
4 |
82,801,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4527:Cer1
|
UTSW |
4 |
82,802,906 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5816:Cer1
|
UTSW |
4 |
82,801,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6807:Cer1
|
UTSW |
4 |
82,801,052 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7536:Cer1
|
UTSW |
4 |
82,803,205 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAAGGACTGAATCTGGAACTAG -3'
(R):5'- GAAGATGCTGTCCAGGCTTG -3'
Sequencing Primer
(F):5'- TCTGGAACTAGACAAGGCCCG -3'
(R):5'- CTTGGAAGATTCTGGAAGAAACCTG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation