Incidental Mutation 'IGL01550:Mup4'
ID90564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mup4
Ensembl Gene ENSMUSG00000041333
Gene Namemajor urinary protein 4
SynonymsMup-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL01550
Quality Score
Status
Chromosome4
Chromosomal Location59956804-59960710 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59960120 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 48 (I48K)
Ref Sequence ENSEMBL: ENSMUSP00000075356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075973] [ENSMUST00000107521]
PDB Structure
Major mouse urinary protein IV complexed with 2-sec-butyl-4,5-dihydrothiazole [X-RAY DIFFRACTION]
Major mouse urinary protein IV complexed with 2-heptanone [X-RAY DIFFRACTION]
Major mouse urinary protein IV complexed with 2-ethylhexanol [X-RAY DIFFRACTION]
Major mouse urinary protein IV complexed with 2,5-dimethylpyrazine [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000075973
AA Change: I48K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075356
Gene: ENSMUSG00000041333
AA Change: I48K

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Lipocalin 32 171 8.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107521
SMART Domains Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T G 11: 3,937,974 R137S unknown Het
Epha8 G T 4: 136,931,740 Q868K possibly damaging Het
Erc1 T A 6: 119,783,394 M386L probably damaging Het
Gfpt2 T A 11: 49,824,323 probably null Het
Gm14124 T A 2: 150,266,443 probably benign Het
Gpr142 T A 11: 114,804,326 L39Q probably damaging Het
Hmcn1 A T 1: 150,598,397 W4765R probably damaging Het
Hmcn2 A T 2: 31,424,252 E3603V possibly damaging Het
Hsp90b1 C T 10: 86,704,370 D26N probably benign Het
Kmt2c T C 5: 25,281,276 T4760A probably damaging Het
Lmo7 C A 14: 101,926,140 probably benign Het
Mylk3 T A 8: 85,365,089 D29V probably damaging Het
Myo1b A G 1: 51,784,531 F405S probably damaging Het
Nbea T C 3: 55,805,248 D2136G possibly damaging Het
Olfr243 T G 7: 103,716,997 H134Q probably damaging Het
Olfr364-ps1 A T 2: 37,146,974 Y254F probably damaging Het
Olfr869 A T 9: 20,137,454 T113S probably damaging Het
Olfr996 T A 2: 85,579,531 C97* probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rpp40 T C 13: 35,906,200 probably null Het
Samd7 T A 3: 30,765,250 S383T probably damaging Het
Tbc1d10c T C 19: 4,184,824 T413A probably damaging Het
Tlr12 A G 4: 128,615,742 L905P probably damaging Het
Tnr A G 1: 159,874,258 K643R probably benign Het
Vmn2r124 T C 17: 18,063,355 probably null Het
Vwf A T 6: 125,679,289 I2606F probably benign Het
Wbp4 T C 14: 79,466,334 T258A probably benign Het
Zfp758 T C 17: 22,375,040 L137S probably damaging Het
Other mutations in Mup4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02956:Mup4 APN 4 59959263 missense probably benign 0.08
IGL03017:Mup4 APN 4 59957890 missense probably damaging 0.99
IGL03139:Mup4 APN 4 59958482 splice site probably benign
IGL03282:Mup4 APN 4 59958547 missense possibly damaging 0.56
marine UTSW 4 59960622 unclassified probably benign
R1440:Mup4 UTSW 4 59958076 missense probably damaging 1.00
R1462:Mup4 UTSW 4 59960084 missense possibly damaging 0.91
R1462:Mup4 UTSW 4 59960084 missense possibly damaging 0.91
R1721:Mup4 UTSW 4 59960598 start codon destroyed probably null
R2067:Mup4 UTSW 4 59960622 unclassified probably benign
R2302:Mup4 UTSW 4 59960702 unclassified probably null
R2403:Mup4 UTSW 4 59958145 missense probably damaging 0.98
R3431:Mup4 UTSW 4 59959192 splice site probably null
R4487:Mup4 UTSW 4 59960547 missense probably damaging 0.98
R5028:Mup4 UTSW 4 59958124 missense possibly damaging 0.69
R5208:Mup4 UTSW 4 59958119 missense probably damaging 1.00
R5430:Mup4 UTSW 4 59960044 missense probably damaging 0.98
R6255:Mup4 UTSW 4 59957890 missense probably damaging 0.99
R6304:Mup4 UTSW 4 59960084 missense possibly damaging 0.91
R6745:Mup4 UTSW 4 59960091 missense possibly damaging 0.50
R7326:Mup4 UTSW 4 59960046 missense possibly damaging 0.95
R7606:Mup4 UTSW 4 59958568 missense probably damaging 1.00
X0026:Mup4 UTSW 4 59960559 missense possibly damaging 0.46
Posted On2013-12-09