Incidental Mutation 'IGL03070:Mup6'
ID417472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mup6
Ensembl Gene ENSMUSG00000078689
Gene Namemajor urinary protein 6
SynonymsGm12544
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL03070
Quality Score
Status
Chromosome4
Chromosomal Location59964294-60007274 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60003999 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 31 (I31F)
Ref Sequence ENSEMBL: ENSMUSP00000103145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107517] [ENSMUST00000107520] [ENSMUST00000107521]
Predicted Effect probably damaging
Transcript: ENSMUST00000107517
AA Change: I39F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103141
Gene: ENSMUSG00000078689
AA Change: I39F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Lipocalin 33 172 1.6e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107520
AA Change: I39F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103144
Gene: ENSMUSG00000078689
AA Change: I39F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Lipocalin 33 172 1.6e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107521
AA Change: I31F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689
AA Change: I31F

DomainStartEndE-ValueType
Pfam:Lipocalin 25 164 1.4e-35 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190007I07Rik A T 10: 82,620,116 probably benign Het
Adam3 T C 8: 24,703,784 E404G probably damaging Het
Arid1a A G 4: 133,694,753 S778P unknown Het
Asah2 A T 19: 32,006,344 Y567N probably damaging Het
Crb1 G T 1: 139,241,258 H841N possibly damaging Het
Ehbp1l1 A G 19: 5,715,953 V1454A probably benign Het
Eif3d A G 15: 77,959,643 L501P probably damaging Het
Fam122a A C 19: 24,476,952 D135E probably damaging Het
Fbxo4 A T 15: 3,977,862 S107T possibly damaging Het
Galnt10 T C 11: 57,725,582 Y108H probably damaging Het
Hspbap1 T A 16: 35,818,726 D263E probably damaging Het
Kpna3 T C 14: 61,370,782 probably benign Het
Miox A G 15: 89,336,084 T160A possibly damaging Het
Mlxipl G A 5: 135,132,453 V409M possibly damaging Het
Mrps21 A T 3: 95,870,585 probably benign Het
Muc6 A G 7: 141,644,567 probably benign Het
Olfr593 A G 7: 103,212,697 H279R probably benign Het
Pgr T A 9: 8,903,664 I562N possibly damaging Het
Prag1 T A 8: 36,103,549 W429R probably benign Het
Prrc2c G T 1: 162,677,409 P2621Q probably damaging Het
Psip1 T G 4: 83,465,081 K232N probably damaging Het
Ryr1 T C 7: 29,070,659 Y2663C probably damaging Het
Trhr2 T A 8: 122,358,603 Q214L probably benign Het
Txndc11 A T 16: 11,075,287 Y860N probably damaging Het
Vmn2r72 C T 7: 85,752,041 probably benign Het
Yif1a T A 19: 5,088,729 H4Q possibly damaging Het
Other mutations in Mup6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Mup6 APN 4 60006001 missense probably damaging 1.00
IGL01333:Mup6 APN 4 60005529 missense probably damaging 1.00
IGL01608:Mup6 APN 4 60006021 missense probably benign 0.34
IGL02471:Mup6 APN 4 60003971 splice site probably benign
IGL02932:Mup6 APN 4 60006009 missense probably damaging 1.00
IGL03108:Mup6 APN 4 60005990 missense possibly damaging 0.55
IGL03158:Mup6 APN 4 60005480 missense possibly damaging 0.83
R0122:Mup6 UTSW 4 60003995 nonsense probably null
R1271:Mup6 UTSW 4 60003579 intron probably benign
R3434:Mup6 UTSW 4 60004116 splice site probably null
R3435:Mup6 UTSW 4 60004116 splice site probably null
R4258:Mup6 UTSW 4 60004812 critical splice acceptor site probably null
R4465:Mup6 UTSW 4 60004000 missense probably damaging 1.00
R4466:Mup6 UTSW 4 60004000 missense probably damaging 1.00
R5021:Mup6 UTSW 4 59964352 missense probably damaging 0.99
R5272:Mup6 UTSW 4 60005922 missense probably damaging 0.99
R6396:Mup6 UTSW 4 60004837 missense possibly damaging 0.84
R6861:Mup6 UTSW 4 60004093 missense probably benign 0.02
R7818:Mup6 UTSW 4 60004884 missense probably benign 0.05
R8238:Mup6 UTSW 4 60003634 missense probably damaging 1.00
Posted On2016-08-02