Incidental Mutation 'IGL00424:Prol1'
ID5595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prol1
Ensembl Gene ENSMUSG00000064156
Gene Nameproline rich, lacrimal 1
SynonymsMuc10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL00424
Quality Score
Status
Chromosome5
Chromosomal Location88317312-88328814 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88327859 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 36 (Y36C)
Ref Sequence ENSEMBL: ENSMUSP00000132678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170832]
Predicted Effect probably benign
Transcript: ENSMUST00000170832
AA Change: Y36C

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: Y36C

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 40 52 N/A INTRINSIC
low complexity region 99 295 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 138,282,499 E108G probably benign Het
Afap1l2 A G 19: 57,002,308 probably benign Het
Als2cl T C 9: 110,886,539 probably null Het
Bpifb1 A G 2: 154,217,167 probably benign Het
Cux2 G A 5: 121,868,538 R890W possibly damaging Het
Fancb A C X: 164,983,338 Q272P probably damaging Het
Fmnl1 G A 11: 103,197,340 W1008* probably null Het
Gfra2 T A 14: 70,968,239 probably benign Het
Gjd2 A G 2: 114,011,777 I73T probably damaging Het
Itgae T C 11: 73,145,635 I1133T probably benign Het
Kcnh1 T A 1: 192,418,882 V594E probably damaging Het
Maml2 T A 9: 13,620,912 V474E probably damaging Het
Mysm1 G A 4: 94,972,909 probably benign Het
Ntrk3 C T 7: 78,250,873 A573T probably benign Het
Pi4kb A G 3: 95,004,263 D348G probably damaging Het
Rfx6 T A 10: 51,681,886 C152S probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Tnxb T G 17: 34,714,692 F2362C probably damaging Het
Tpr T A 1: 150,398,595 probably benign Het
Trf G A 9: 103,226,936 A76V probably damaging Het
Tubgcp3 C T 8: 12,621,809 R811H probably benign Het
Zfp820 A T 17: 21,819,311 H345Q probably damaging Het
Other mutations in Prol1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Prol1 APN 5 88328691 makesense probably null
IGL01943:Prol1 APN 5 88327961 missense probably benign 0.03
IGL03291:Prol1 APN 5 88328520 missense unknown
R2144:Prol1 UTSW 5 88328395 missense unknown
R2888:Prol1 UTSW 5 88328309 missense unknown
R3849:Prol1 UTSW 5 88328617 missense unknown
R4078:Prol1 UTSW 5 88328216 missense unknown
R4079:Prol1 UTSW 5 88328216 missense unknown
R4166:Prol1 UTSW 5 88328671 missense unknown
R5447:Prol1 UTSW 5 88328266 missense unknown
R5709:Prol1 UTSW 5 88327852 nonsense probably null
R6253:Prol1 UTSW 5 88327877 missense probably damaging 0.97
R7804:Prol1 UTSW 5 88328405 missense unknown
Posted On2012-04-20