Incidental Mutation 'IGL03070:Mup6'
ID 417472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mup6
Ensembl Gene ENSMUSG00000078689
Gene Name major urinary protein 6
Synonyms Gm12544
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL03070
Quality Score
Status
Chromosome 4
Chromosomal Location 60003481-60007274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60003999 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A2AV72
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
Adam3 T C 8: 25,193,800 (GRCm39) E404G probably damaging Het
Arid1a A G 4: 133,422,064 (GRCm39) S778P unknown Het
Asah2 A T 19: 31,983,744 (GRCm39) Y567N probably damaging Het
Crb1 G T 1: 139,168,996 (GRCm39) H841N possibly damaging Het
Ehbp1l1 A G 19: 5,765,981 (GRCm39) V1454A probably benign Het
Eif3d A G 15: 77,843,843 (GRCm39) L501P probably damaging Het
Fbxo4 A T 15: 4,007,344 (GRCm39) S107T possibly damaging Het
Galnt10 T C 11: 57,616,408 (GRCm39) Y108H probably damaging Het
Hspbap1 T A 16: 35,639,096 (GRCm39) D263E probably damaging Het
Kpna3 T C 14: 61,608,231 (GRCm39) probably benign Het
Miox A G 15: 89,220,287 (GRCm39) T160A possibly damaging Het
Mlxipl G A 5: 135,161,307 (GRCm39) V409M possibly damaging Het
Mrps21 A T 3: 95,777,897 (GRCm39) probably benign Het
Muc6 A G 7: 141,230,834 (GRCm39) probably benign Het
Or52s1 A G 7: 102,861,904 (GRCm39) H279R probably benign Het
Pabir1 A C 19: 24,454,316 (GRCm39) D135E probably damaging Het
Pgr T A 9: 8,903,665 (GRCm39) I562N possibly damaging Het
Prag1 T A 8: 36,570,703 (GRCm39) W429R probably benign Het
Prrc2c G T 1: 162,504,978 (GRCm39) P2621Q probably damaging Het
Psip1 T G 4: 83,383,318 (GRCm39) K232N probably damaging Het
Ryr1 T C 7: 28,770,084 (GRCm39) Y2663C probably damaging Het
Trhr2 T A 8: 123,085,342 (GRCm39) Q214L probably benign Het
Txndc11 A T 16: 10,893,151 (GRCm39) Y860N probably damaging Het
Uqcc6 A T 10: 82,455,950 (GRCm39) probably benign Het
Vmn2r72 C T 7: 85,401,249 (GRCm39) probably benign Het
Yif1a T A 19: 5,138,757 (GRCm39) H4Q possibly damaging Het
Other mutations in Mup6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Mup6 APN 4 60,006,001 (GRCm39) missense probably damaging 1.00
IGL01333:Mup6 APN 4 60,005,529 (GRCm39) missense probably damaging 1.00
IGL01608:Mup6 APN 4 60,006,021 (GRCm39) missense probably benign 0.34
IGL02471:Mup6 APN 4 60,003,971 (GRCm39) splice site probably benign
IGL02932:Mup6 APN 4 60,006,009 (GRCm39) missense probably damaging 1.00
IGL03108:Mup6 APN 4 60,005,990 (GRCm39) missense possibly damaging 0.55
IGL03158:Mup6 APN 4 60,005,480 (GRCm39) missense possibly damaging 0.83
R0122:Mup6 UTSW 4 60,003,995 (GRCm39) nonsense probably null
R1271:Mup6 UTSW 4 60,003,579 (GRCm39) intron probably benign
R3434:Mup6 UTSW 4 60,004,116 (GRCm39) splice site probably null
R3435:Mup6 UTSW 4 60,004,116 (GRCm39) splice site probably null
R4258:Mup6 UTSW 4 60,004,812 (GRCm39) critical splice acceptor site probably null
R4465:Mup6 UTSW 4 60,004,000 (GRCm39) missense probably damaging 1.00
R4466:Mup6 UTSW 4 60,004,000 (GRCm39) missense probably damaging 1.00
R5021:Mup6 UTSW 4 59,964,352 (GRCm39) missense probably damaging 0.99
R5272:Mup6 UTSW 4 60,005,922 (GRCm39) missense probably damaging 0.99
R6396:Mup6 UTSW 4 60,004,837 (GRCm39) missense possibly damaging 0.84
R6861:Mup6 UTSW 4 60,004,093 (GRCm39) missense probably benign 0.02
R7818:Mup6 UTSW 4 60,004,884 (GRCm39) missense probably benign 0.05
R8238:Mup6 UTSW 4 60,003,634 (GRCm39) missense probably damaging 1.00
R9294:Mup6 UTSW 4 60,004,838 (GRCm39) missense probably benign 0.16
Posted On 2016-08-02