Incidental Mutation 'IGL02442:Mup8'
ID293444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mup8
Ensembl Gene ENSMUSG00000078687
Gene Namemajor urinary protein 8
SynonymsGm12809
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02442
Quality Score
Status
Chromosome4
Chromosomal Location60218621-60222599 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 60219695 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 191 (R191W)
Ref Sequence ENSEMBL: ENSMUSP00000128910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095058] [ENSMUST00000163931]
Predicted Effect probably benign
Transcript: ENSMUST00000095058
AA Change: Q177L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000092668
Gene: ENSMUSG00000078687
AA Change: Q177L

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Lipocalin 34 173 1.1e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163931
AA Change: R191W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128910
Gene: ENSMUSG00000078687
AA Change: R191W

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
Pfam:Lipocalin 34 173 3.1e-33 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik T C 11: 101,990,826 V116A probably benign Het
Adap2 A G 11: 80,177,206 E348G probably damaging Het
Ahnak G A 19: 9,004,016 G888D probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csde1 T C 3: 103,054,819 C649R probably benign Het
Cym A C 3: 107,214,285 D230E probably damaging Het
Dnah1 A T 14: 31,287,878 I1911N probably damaging Het
Fam60a A T 6: 148,928,507 probably null Het
Fat1 A G 8: 44,950,323 H37R probably benign Het
Ggt6 T C 11: 72,436,806 V146A possibly damaging Het
Glud1 T A 14: 34,335,438 L54* probably null Het
Grk6 A G 13: 55,458,937 probably benign Het
Gsta4 G A 9: 78,209,165 V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 V620M probably damaging Het
Hspe1 T C 1: 55,089,042 probably benign Het
Icmt T C 4: 152,298,716 V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 probably benign Het
Lgals12 T C 19: 7,606,654 probably benign Het
Lypla1 T C 1: 4,832,387 probably benign Het
Map1b A T 13: 99,508,198 W66R probably damaging Het
Matn3 T A 12: 8,967,678 C443* probably null Het
Mycbp2 T C 14: 103,314,375 K140R probably benign Het
Ndfip1 C T 18: 38,447,736 S66L probably damaging Het
Neu1 A G 17: 34,934,469 I323V probably benign Het
Nup205 A T 6: 35,190,068 T341S probably benign Het
Olfr1303 G A 2: 111,813,991 T245I probably benign Het
Olfr1466 T A 19: 13,342,120 C121S probably benign Het
Olfr1469 T A 19: 13,410,987 N139K probably benign Het
Ovch2 T A 7: 107,796,548 I88F possibly damaging Het
Pkd1 T A 17: 24,565,226 S249T probably benign Het
Plekhg3 A T 12: 76,578,353 Q1324L probably benign Het
Ppara T A 15: 85,801,143 V431E probably benign Het
Prkaa1 T G 15: 5,176,888 H408Q probably damaging Het
Sap25 T A 5: 137,641,995 N108K probably benign Het
Setd5 A C 6: 113,110,380 I81L possibly damaging Het
Sri T A 5: 8,062,411 M78K probably damaging Het
Tyro3 A G 2: 119,808,868 N352S probably benign Het
Ubr5 T A 15: 38,037,901 E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 V721D probably damaging Het
Vwa5a A G 9: 38,734,784 M483V probably benign Het
Zfp786 T A 6: 47,821,367 Q212H probably benign Het
Other mutations in Mup8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03102:Mup8 APN 4 60219746 missense probably benign 0.29
IGL03291:Mup8 APN 4 60221950 missense probably damaging 0.99
R5159:Mup8 UTSW 4 60221062 missense probably benign 0.34
R5371:Mup8 UTSW 4 60222423 missense probably benign 0.00
R6006:Mup8 UTSW 4 60220403 missense probably benign 0.43
R6407:Mup8 UTSW 4 60220394 missense possibly damaging 0.78
R6931:Mup8 UTSW 4 60220322 missense probably damaging 1.00
R7172:Mup8 UTSW 4 60222425 nonsense probably null
R7607:Mup8 UTSW 4 60222035 missense probably benign 0.01
R7757:Mup8 UTSW 4 60220332 missense probably benign 0.14
R7757:Mup8 UTSW 4 60220333 missense probably benign 0.03
R7874:Mup8 UTSW 4 60222420 missense probably damaging 0.99
R8349:Mup8 UTSW 4 60222382 missense probably benign
R8449:Mup8 UTSW 4 60222382 missense probably benign
Z1176:Mup8 UTSW 4 60222378 missense probably benign 0.01
Z1176:Mup8 UTSW 4 60222542 start gained probably benign
Posted On2015-04-16