Incidental Mutation 'IGL00946:Chrdl1'
ID 29588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chrdl1
Ensembl Gene ENSMUSG00000031283
Gene Name chordin-like 1
Synonyms verntroptin-beta, CHL1, ventroptin-alpha, Nrln1, VOPT
Accession Numbers
Essential gene? Not available question?
Stock # IGL00946
Quality Score
Status
Chromosome X
Chromosomal Location 142068670-142177258 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 142077164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063029] [ENSMUST00000074660] [ENSMUST00000112878] [ENSMUST00000166406]
AlphaFold Q920C1
Predicted Effect probably benign
Transcript: ENSMUST00000063029
SMART Domains Protein: ENSMUSP00000056193
Gene: ENSMUSG00000031283

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VWC 32 94 3.99e-4 SMART
VWC 110 173 7.68e-6 SMART
VWC 255 317 7.16e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074660
SMART Domains Protein: ENSMUSP00000074230
Gene: ENSMUSG00000031283

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VWC 32 94 3.99e-4 SMART
VWC 110 173 7.68e-6 SMART
VWC 255 317 7.16e-6 SMART
low complexity region 318 331 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112878
SMART Domains Protein: ENSMUSP00000108499
Gene: ENSMUSG00000031283

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VWC 32 94 3.99e-4 SMART
VWC 110 173 7.68e-6 SMART
VWC 255 317 7.16e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166406
SMART Domains Protein: ENSMUSP00000130284
Gene: ENSMUSG00000031283

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
VWC 32 94 3.99e-4 SMART
VWC 110 173 7.68e-6 SMART
VWC 255 317 7.16e-6 SMART
low complexity region 318 331 N/A INTRINSIC
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 an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T C 4: 132,790,373 (GRCm39) I538T probably benign Het
Bmp10 A T 6: 87,411,344 (GRCm39) Q379L probably damaging Het
Cacna2d4 G A 6: 119,248,876 (GRCm39) A446T possibly damaging Het
Crtc2 A G 3: 90,168,112 (GRCm39) H370R probably damaging Het
Cubn T C 2: 13,461,434 (GRCm39) T698A probably damaging Het
Deup1 T C 9: 15,472,534 (GRCm39) T593A possibly damaging Het
Dus1l T C 11: 120,684,701 (GRCm39) T157A probably damaging Het
Efcab6 T C 15: 83,902,897 (GRCm39) N151S probably benign Het
Eif2b5 T A 16: 20,324,002 (GRCm39) H448Q probably benign Het
Epha8 T C 4: 136,673,121 (GRCm39) D221G probably damaging Het
Eprs1 G A 1: 185,139,898 (GRCm39) G996S probably benign Het
Fn1 G A 1: 71,684,699 (GRCm39) probably benign Het
Gfpt1 A G 6: 87,027,924 (GRCm39) Y10C probably damaging Het
Ghitm C T 14: 36,847,203 (GRCm39) M290I probably benign Het
Gpd2 T C 2: 57,158,096 (GRCm39) probably null Het
Htr2a T A 14: 74,943,582 (GRCm39) Y387* probably null Het
Lrrc7 T A 3: 157,866,993 (GRCm39) Q916L probably benign Het
Mfsd9 A C 1: 40,812,940 (GRCm39) D458E probably benign Het
Nmb T C 7: 80,552,208 (GRCm39) I123M probably benign Het
Nrap A T 19: 56,329,058 (GRCm39) probably null Het
Or10j7 A T 1: 173,011,190 (GRCm39) D270E probably benign Het
Or4d5 A G 9: 40,012,450 (GRCm39) I112T probably benign Het
Or4k49 T A 2: 111,495,489 (GRCm39) M306K probably benign Het
Pola1 T C X: 92,524,145 (GRCm39) I1165M probably benign Het
Sdk1 G T 5: 142,070,368 (GRCm39) probably null Het
Selenon T A 4: 134,267,037 (GRCm39) probably benign Het
Stk39 T A 2: 68,144,908 (GRCm39) T389S possibly damaging Het
Tmx3 A G 18: 90,558,178 (GRCm39) E410G possibly damaging Het
Utp20 A T 10: 88,584,177 (GRCm39) V2660E possibly damaging Het
Vps52 T C 17: 34,175,932 (GRCm39) L40P possibly damaging Het
Wdr25 C T 12: 108,990,953 (GRCm39) S380F possibly damaging Het
Xpo7 T C 14: 70,909,098 (GRCm39) T808A probably benign Het
Zc3h14 T C 12: 98,726,142 (GRCm39) probably benign Het
Other mutations in Chrdl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02089:Chrdl1 APN X 142,086,510 (GRCm39) missense possibly damaging 0.72
R2072:Chrdl1 UTSW X 142,086,414 (GRCm39) missense probably benign 0.06
Posted On 2013-04-17