Incidental Mutation 'IGL02465:Mup20'
ID294565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mup20
Ensembl Gene ENSMUSG00000078672
Gene Namemajor urinary protein 20
Synonymsdarcin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.033) question?
Stock #IGL02465
Quality Score
Status
Chromosome4
Chromosomal Location62050234-62054158 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62052000 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 107 (N107D)
Ref Sequence ENSEMBL: ENSMUSP00000073667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074018]
PDB Structure
Structural insights into the specificity of darcin, an atypical major urinary protein. [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074018
AA Change: N107D

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073667
Gene: ENSMUSG00000078672
AA Change: N107D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Lipocalin 35 174 2.5e-36 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A G 12: 4,200,906 D555G probably benign Het
Anks1b T A 10: 90,163,265 C411* probably null Het
Atp5j A T 16: 84,828,470 Y82N probably damaging Het
Cd19 A T 7: 126,413,558 V221D possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyp4f13 A T 17: 32,929,136 probably null Het
Ddrgk1 T C 2: 130,654,709 D245G probably damaging Het
Eya2 A G 2: 165,715,952 D156G possibly damaging Het
Gm42763 T C 9: 110,545,297 probably benign Het
Gtdc1 T C 2: 44,570,423 Y417C probably damaging Het
Map1b T C 13: 99,433,406 T936A unknown Het
Med23 G A 10: 24,903,743 R906K probably damaging Het
Mill2 G A 7: 18,858,243 W263* probably null Het
Neb A G 2: 52,193,165 probably benign Het
Ntrk2 A G 13: 59,060,380 N680S probably damaging Het
Olfr102 A C 17: 37,313,911 S158A probably damaging Het
Olfr459 C T 6: 41,771,556 V248I probably damaging Het
Pde3a A G 6: 141,249,675 H29R possibly damaging Het
Pik3c3 T C 18: 30,344,060 I878T probably damaging Het
Plxnd1 A G 6: 115,955,742 *1926R probably null Het
Prl8a9 T A 13: 27,559,449 L124F probably damaging Het
Proser3 A T 7: 30,543,533 N206K possibly damaging Het
Rasef G T 4: 73,734,488 T439N probably damaging Het
Slc6a18 T C 13: 73,677,785 T49A probably benign Het
Spag17 A C 3: 100,075,871 T1496P probably damaging Het
Vmn1r63 A C 7: 5,803,039 V198G probably damaging Het
Vmn2r112 T C 17: 22,614,994 S548P probably damaging Het
Vps13a T C 19: 16,710,941 D834G probably benign Het
Vps8 A T 16: 21,521,903 N799I probably damaging Het
Zfhx4 A G 3: 5,399,603 H1632R possibly damaging Het
Zp1 T A 19: 10,920,487 E30V probably benign Het
Other mutations in Mup20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02604:Mup20 APN 4 62051904 missense probably damaging 0.98
R5207:Mup20 UTSW 4 62051586 splice site probably null
R6173:Mup20 UTSW 4 62054030 missense unknown
R8194:Mup20 UTSW 4 62053484 missense probably benign 0.01
R8364:Mup20 UTSW 4 62051531 missense probably damaging 0.96
Posted On2015-04-16