Incidental Mutation 'IGL01160:Pbsn'
ID 54104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pbsn
Ensembl Gene ENSMUSG00000000003
Gene Name probasin
Synonyms PB
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01160
Quality Score
Status
Chromosome X
Chromosomal Location 76881504-76897106 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76886177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 147 (N147S)
Ref Sequence ENSEMBL: ENSMUSP00000000003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000003] [ENSMUST00000114041]
AlphaFold O08976
Predicted Effect probably benign
Transcript: ENSMUST00000000003
AA Change: N147S

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000003
Gene: ENSMUSG00000000003
AA Change: N147S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Lipocalin 27 166 1.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114041
AA Change: N110S

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109675
Gene: ENSMUSG00000000003
AA Change: N110S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Lipocalin 27 94 4.2e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11a A G 8: 12,894,609 (GRCm39) T188A probably damaging Het
Bfsp2 A G 9: 103,357,367 (GRCm39) V20A probably benign Het
Btn1a1 G A 13: 23,645,907 (GRCm39) T154M possibly damaging Het
Ccdc117 T C 11: 5,481,532 (GRCm39) S200G probably benign Het
Col24a1 G A 3: 145,213,468 (GRCm39) G1358S probably damaging Het
Crlf2 T C 5: 109,705,436 (GRCm39) T40A possibly damaging Het
Cstf2 T A X: 132,961,478 (GRCm39) probably benign Het
Dcdc2a A G 13: 25,303,312 (GRCm39) D281G probably benign Het
Dmd T C X: 82,968,567 (GRCm39) L1855P probably damaging Het
Dnajc5g T C 5: 31,267,529 (GRCm39) V112A probably benign Het
Dnmt1 G A 9: 20,828,615 (GRCm39) P828S possibly damaging Het
Dock3 A T 9: 106,783,887 (GRCm39) S268R probably damaging Het
Dpep2 C T 8: 106,713,076 (GRCm39) V440M possibly damaging Het
F8 A T X: 74,331,667 (GRCm39) M741K probably damaging Het
Fermt3 C T 19: 6,980,626 (GRCm39) probably null Het
Fosb A G 7: 19,041,039 (GRCm39) probably null Het
Gm3238 C A 10: 77,606,717 (GRCm39) probably benign Het
Hyal5 T A 6: 24,876,480 (GRCm39) S118T possibly damaging Het
Igf2r T C 17: 12,923,662 (GRCm39) D1140G possibly damaging Het
Ighmbp2 G T 19: 3,326,750 (GRCm39) probably benign Het
Irf3 C A 7: 44,648,220 (GRCm39) D28E possibly damaging Het
Ly6i A T 15: 74,851,881 (GRCm39) I96N possibly damaging Het
Macrod2 T C 2: 140,666,962 (GRCm39) probably benign Het
Or2b4 A G 17: 38,116,941 (GRCm39) R302G probably benign Het
Or4c117 A T 2: 88,956,072 (GRCm39) M1K probably null Het
Or4f15 A G 2: 111,814,278 (GRCm39) L47P probably damaging Het
Or52z1 C T 7: 103,436,843 (GRCm39) G214R probably damaging Het
Otof A T 5: 30,538,879 (GRCm39) M1128K probably benign Het
Parp9 A T 16: 35,768,368 (GRCm39) I183F probably damaging Het
Pcf11 A G 7: 92,310,894 (GRCm39) S365P possibly damaging Het
Pcnx4 T G 12: 72,626,151 (GRCm39) V1119G probably damaging Het
Qng1 A G 13: 58,529,790 (GRCm39) V274A probably damaging Het
Rsf1 C T 7: 97,334,791 (GRCm39) T1308M probably damaging Het
Sidt2 A G 9: 45,854,024 (GRCm39) L647P probably damaging Het
Slc28a2b A C 2: 122,355,277 (GRCm39) probably null Het
Slc7a8 A G 14: 54,972,581 (GRCm39) V280A probably benign Het
Spart T A 3: 55,029,177 (GRCm39) F323I probably damaging Het
Supt16 A T 14: 52,420,589 (GRCm39) D70E probably benign Het
Tmc4 T C 7: 3,678,517 (GRCm39) Y38C possibly damaging Het
Tmco5b G T 2: 113,118,143 (GRCm39) probably benign Het
Trav10 G A 14: 53,743,239 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,489,477 (GRCm39) M454K probably damaging Het
Vmn2r85 T C 10: 130,254,690 (GRCm39) T665A probably benign Het
Yipf7 T C 5: 69,676,660 (GRCm39) I160V probably benign Het
Zc3h18 T C 8: 123,134,989 (GRCm39) probably benign Het
Zfp429 G A 13: 67,539,132 (GRCm39) S91L probably damaging Het
Other mutations in Pbsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02401:Pbsn APN X 76,886,129 (GRCm39) missense probably benign 0.08
IGL03116:Pbsn APN X 76,891,624 (GRCm39) missense probably damaging 1.00
R0569:Pbsn UTSW X 76,897,046 (GRCm39) missense possibly damaging 0.62
R2058:Pbsn UTSW X 76,891,582 (GRCm39) missense probably damaging 1.00
R2059:Pbsn UTSW X 76,891,582 (GRCm39) missense probably damaging 1.00
R3935:Pbsn UTSW X 76,891,702 (GRCm39) missense probably damaging 1.00
R3936:Pbsn UTSW X 76,891,702 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-28