Incidental Mutation 'IGL03344:Cer1'
ID 417384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cer1
Ensembl Gene ENSMUSG00000038192
Gene Name cerberus 1, DAN family BMP antagonist
Synonyms Cerl, cer-1, Cerberus-like, Cerl1, Cerr1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL03344
Quality Score
Status
Chromosome 4
Chromosomal Location 82799988-82803385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82803062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 87 (W87R)
Ref Sequence ENSEMBL: ENSMUSP00000048607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048430]
AlphaFold O55233
Predicted Effect probably damaging
Transcript: ENSMUST00000048430
AA Change: W87R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048607
Gene: ENSMUSG00000038192
AA Change: W87R

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CT 164 246 1.73e-28 SMART
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 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,975,005 (GRCm39) I26N probably damaging Het
Atxn7l1 A G 12: 33,376,065 (GRCm39) N47D probably damaging Het
Chrna2 A G 14: 66,388,415 (GRCm39) K477E probably damaging Het
Chtf8 G A 8: 107,612,904 (GRCm39) P12S probably damaging Het
Cplane1 C A 15: 8,216,942 (GRCm39) P720Q possibly damaging Het
Deaf1 A T 7: 140,877,461 (GRCm39) H555Q probably benign Het
Dop1a T G 9: 86,418,197 (GRCm39) I1975M probably damaging Het
Ecpas A C 4: 58,828,538 (GRCm39) V965G probably damaging Het
Fsd2 C A 7: 81,209,657 (GRCm39) V62L probably benign Het
Fxyd6 T G 9: 45,303,548 (GRCm39) L81R probably benign Het
Htt T A 5: 35,064,810 (GRCm39) S3008T probably benign Het
Htt T A 5: 35,037,172 (GRCm39) S2086T probably benign Het
Mybbp1a G T 11: 72,336,028 (GRCm39) R447L probably damaging Het
Nup210 A G 6: 90,998,411 (GRCm39) V792A possibly damaging Het
Odad2 C A 18: 7,129,434 (GRCm39) G915* probably null Het
Odr4 T C 1: 150,239,295 (GRCm39) E386G probably damaging Het
Or1e32 T A 11: 73,705,003 (GRCm39) I302L probably benign Het
Or1j14 T C 2: 36,418,140 (GRCm39) S239P probably damaging Het
Prokr1 T C 6: 87,565,482 (GRCm39) D121G possibly damaging Het
Puf60 A G 15: 75,942,229 (GRCm39) V548A possibly damaging Het
Serpina3c T C 12: 104,113,523 (GRCm39) I408V probably benign Het
Ska2 A G 11: 87,000,139 (GRCm39) probably benign Het
Slc4a9 T A 18: 36,668,654 (GRCm39) Y745N probably damaging Het
Spart T C 3: 55,029,106 (GRCm39) M299T probably benign Het
Speer4f1 A G 5: 17,685,332 (GRCm39) E209G possibly damaging Het
Tmem202 T C 9: 59,426,351 (GRCm39) T272A possibly damaging Het
Vegfc T A 8: 54,610,186 (GRCm39) I114N possibly damaging Het
Vmn1r61 T A 7: 5,613,493 (GRCm39) T274S possibly damaging Het
Zfpm2 A G 15: 40,966,170 (GRCm39) N753S probably benign Het
Zmym6 A G 4: 127,014,314 (GRCm39) T624A probably damaging Het
Other mutations in Cer1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2017:Cer1 UTSW 4 82,801,120 (GRCm39) missense probably damaging 1.00
R4525:Cer1 UTSW 4 82,802,906 (GRCm39) missense possibly damaging 0.85
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
Posted On 2016-08-02