Incidental Mutation 'IGL01521:Artn'
ID 90530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Artn
Ensembl Gene ENSMUSG00000028539
Gene Name artemin
Synonyms neublastin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # IGL01521
Quality Score
Status
Chromosome 4
Chromosomal Location 117783359-117786960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117784484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 25 (P25S)
Ref Sequence ENSEMBL: ENSMUSP00000095526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030263] [ENSMUST00000070816] [ENSMUST00000097912] [ENSMUST00000097913] [ENSMUST00000106410]
AlphaFold Q9Z0L2
Predicted Effect probably benign
Transcript: ENSMUST00000030263
SMART Domains Protein: ENSMUSP00000030263
Gene: ENSMUSG00000028538

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 37 47 N/A INTRINSIC
Pfam:Glyco_transf_29 102 373 5.7e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000070816
AA Change: P25S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064521
Gene: ENSMUSG00000028539
AA Change: P25S

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
low complexity region 81 126 N/A INTRINSIC
TGFB 127 223 3.71e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097912
SMART Domains Protein: ENSMUSP00000095525
Gene: ENSMUSG00000028538

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:Glyco_transf_29 86 357 5.4e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097913
AA Change: P25S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095526
Gene: ENSMUSG00000028539
AA Change: P25S

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
low complexity region 81 126 N/A INTRINSIC
TGFB 127 223 3.71e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106410
SMART Domains Protein: ENSMUSP00000102018
Gene: ENSMUSG00000028538

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 37 47 N/A INTRINSIC
Pfam:Glyco_transf_29 106 372 4.7e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150612
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. Mice lacking a functional copy of this gene exhibit ptosis and impaired development of the sympathetic nervous system. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruption of this gene display ptosis and poor development of the sympathetic chain ganglia and associated nerves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,770,419 (GRCm39) I406F possibly damaging Het
Adgrb2 A G 4: 129,886,085 (GRCm39) E75G probably damaging Het
Angptl2 T C 2: 33,136,215 (GRCm39) Y467H probably damaging Het
Arap1 G T 7: 101,049,812 (GRCm39) probably null Het
Arfgap1 G A 2: 180,613,371 (GRCm39) C22Y probably damaging Het
Bicra G T 7: 15,723,113 (GRCm39) Q135K probably benign Het
Clpx T C 9: 65,226,026 (GRCm39) V367A probably damaging Het
Clstn3 C T 6: 124,434,990 (GRCm39) W308* probably null Het
Cpb2 T A 14: 75,495,071 (GRCm39) V67D probably damaging Het
Cyp2c38 A G 19: 39,449,114 (GRCm39) Y80H probably damaging Het
Dbt A G 3: 116,327,032 (GRCm39) D127G probably benign Het
Elp1 T A 4: 56,771,059 (GRCm39) E961D probably benign Het
Fhod1 G A 8: 106,057,055 (GRCm39) A973V probably benign Het
Flacc1 T G 1: 58,709,553 (GRCm39) K201Q probably damaging Het
Focad A T 4: 88,328,927 (GRCm39) *1713C probably null Het
Gemin5 A T 11: 58,025,744 (GRCm39) probably benign Het
Gpr22 C T 12: 31,758,709 (GRCm39) probably benign Het
Kif23 T A 9: 61,827,182 (GRCm39) T890S probably damaging Het
Kmt5b T A 19: 3,836,618 (GRCm39) S52T possibly damaging Het
Lipo3 A T 19: 33,763,083 (GRCm39) D53E probably damaging Het
Lrrc14b G A 13: 74,511,691 (GRCm39) R130C probably damaging Het
Myt1 T A 2: 181,467,704 (GRCm39) I1046K probably damaging Het
Napsa A T 7: 44,236,061 (GRCm39) I367F probably damaging Het
Or5aq1b C T 2: 86,902,077 (GRCm39) V134I probably benign Het
Or8b56 A T 9: 38,739,185 (GRCm39) Y66F probably damaging Het
Rgcc T G 14: 79,538,185 (GRCm39) S69R probably damaging Het
Rin3 T A 12: 102,335,307 (GRCm39) I326N probably benign Het
Sipa1 C A 19: 5,711,006 (GRCm39) M1I probably null Het
Sirpb1a T A 3: 15,475,561 (GRCm39) M325L probably benign Het
Sult1a1 C A 7: 126,274,451 (GRCm39) V71F possibly damaging Het
Tgds G T 14: 118,350,506 (GRCm39) P349Q probably damaging Het
Tmem63c T A 12: 87,115,918 (GRCm39) H186Q probably damaging Het
Trappc9 A G 15: 72,924,016 (GRCm39) L242S probably damaging Het
Trip12 T A 1: 84,743,919 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,412 (GRCm39) probably null Het
Other mutations in Artn
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0378:Artn UTSW 4 117,784,815 (GRCm39) unclassified probably benign
R1506:Artn UTSW 4 117,784,058 (GRCm39) missense probably damaging 1.00
R5062:Artn UTSW 4 117,784,873 (GRCm39) missense probably damaging 0.99
R8807:Artn UTSW 4 117,783,915 (GRCm39) missense possibly damaging 0.81
Posted On 2013-12-09