Incidental Mutation 'IGL01431:Cer1'
ID 84117
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: 0.116) question?
Stock # IGL01431
Quality Score
Status
Chromosome 4
Chromosomal Location 82799988-82803385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82801068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 198 (E198D)
Ref Sequence ENSEMBL: ENSMUSP00000048607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048430]
AlphaFold O55233
Predicted Effect probably benign
Transcript: ENSMUST00000048430
AA Change: E198D

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000048607
Gene: ENSMUSG00000038192
AA Change: E198D

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A G 9: 90,089,838 (GRCm39) I897T possibly damaging Het
Aqp2 G A 15: 99,477,301 (GRCm39) V90M possibly damaging Het
Atf6 T C 1: 170,680,571 (GRCm39) probably benign Het
Cdh3 T C 8: 107,274,301 (GRCm39) Y607H probably damaging Het
Dscam A G 16: 96,453,278 (GRCm39) probably null Het
Ecel1 C T 1: 87,079,226 (GRCm39) R484H probably damaging Het
Entpd7 C A 19: 43,718,278 (GRCm39) H575Q probably benign Het
F11r T C 1: 171,290,477 (GRCm39) V279A probably damaging Het
Gm17093 T A 14: 44,759,122 (GRCm39) probably benign Het
Got1 T A 19: 43,491,488 (GRCm39) K321* probably null Het
Gpn1 T C 5: 31,664,882 (GRCm39) V302A probably benign Het
Hivep1 G T 13: 42,311,493 (GRCm39) K1244N probably damaging Het
Idh3b T C 2: 130,123,817 (GRCm39) T116A possibly damaging Het
Itgb4 C A 11: 115,897,283 (GRCm39) probably benign Het
Mybl1 G T 1: 9,742,872 (GRCm39) L579I probably damaging Het
Myh14 T A 7: 44,263,782 (GRCm39) T1694S probably null Het
Mylk3 T C 8: 86,063,030 (GRCm39) D537G probably damaging Het
Myo1d A C 11: 80,565,665 (GRCm39) F387V probably damaging Het
Nek9 T C 12: 85,361,361 (GRCm39) Y448C probably benign Het
Or8k40 A T 2: 86,584,508 (GRCm39) H191Q probably benign Het
Paxbp1 T C 16: 90,832,804 (GRCm39) probably benign Het
Potefam1 A T 2: 111,055,740 (GRCm39) probably benign Het
Retreg2 T A 1: 75,121,749 (GRCm39) probably null Het
Ripply3 G A 16: 94,129,402 (GRCm39) C16Y possibly damaging Het
Robo3 G A 9: 37,330,407 (GRCm39) probably benign Het
Rrm1 C A 7: 102,106,759 (GRCm39) probably benign Het
Rsad2 T A 12: 26,498,666 (GRCm39) R269S probably benign Het
Sbp A T 17: 24,164,322 (GRCm39) probably benign Het
Schip1 A T 3: 68,525,110 (GRCm39) Q162L probably damaging Het
Senp1 T C 15: 97,980,144 (GRCm39) Y67C probably damaging Het
Slc25a25 C T 2: 32,309,103 (GRCm39) R233K probably damaging Het
Smoc1 C A 12: 81,199,525 (GRCm39) S220* probably null Het
Stab1 C A 14: 30,870,952 (GRCm39) R1299I probably benign Het
Stk17b A G 1: 53,805,074 (GRCm39) probably benign Het
Tmc7 T G 7: 118,151,985 (GRCm39) D312A probably damaging Het
Vmn1r79 T C 7: 11,910,327 (GRCm39) S70P possibly damaging Het
Zfc3h1 C A 10: 115,259,128 (GRCm39) T1591K possibly damaging Het
Other mutations in Cer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-11