Incidental Mutation 'IGL00702:Krt39'
ID11694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt39
Ensembl Gene ENSMUSG00000064165
Gene Namekeratin 39
Synonyms4732494G06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL00702
Quality Score
Status
Chromosome11
Chromosomal Location99514114-99521338 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 99519063 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 216 (Q216P)
Ref Sequence ENSEMBL: ENSMUSP00000103069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076948] [ENSMUST00000107445]
AlphaFold Q6IFX4
Predicted Effect probably damaging
Transcript: ENSMUST00000076948
AA Change: Q216P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076216
Gene: ENSMUSG00000064165
AA Change: Q216P

DomainStartEndE-ValueType
Pfam:Filament 90 401 7.9e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107445
AA Change: Q216P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103069
Gene: ENSMUSG00000064165
AA Change: Q216P

DomainStartEndE-ValueType
Filament 90 401 2.63e-130 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm A G 9: 53,511,831 V665A probably benign Het
Fastkd1 C T 2: 69,708,545 V166I probably damaging Het
Hsdl2 A G 4: 59,596,892 K57R probably benign Het
Lifr T C 15: 7,185,739 probably null Het
Ppp3cb A G 14: 20,528,250 V144A probably benign Het
Rmdn1 G A 4: 19,605,421 S255N probably damaging Het
Rsph4a A T 10: 33,913,072 N638Y probably damaging Het
Ugt2b5 A T 5: 87,125,219 N529K probably benign Het
Other mutations in Krt39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02179:Krt39 APN 11 99520841 missense probably damaging 1.00
IGL02478:Krt39 APN 11 99520897 missense probably benign 0.37
IGL02578:Krt39 APN 11 99521206 missense probably benign 0.00
IGL03090:Krt39 APN 11 99519007 splice site probably benign
IGL03094:Krt39 APN 11 99520802 splice site probably benign
R0532:Krt39 UTSW 11 99514791 missense possibly damaging 0.92
R0789:Krt39 UTSW 11 99521062 missense probably benign 0.00
R1856:Krt39 UTSW 11 99519088 nonsense probably null
R1920:Krt39 UTSW 11 99514635 missense probably benign 0.00
R1944:Krt39 UTSW 11 99519823 missense probably damaging 1.00
R4391:Krt39 UTSW 11 99514752 missense probably benign 0.01
R4678:Krt39 UTSW 11 99521000 missense probably benign 0.02
R4921:Krt39 UTSW 11 99514749 missense possibly damaging 0.80
R5800:Krt39 UTSW 11 99521145 missense probably benign 0.09
R6207:Krt39 UTSW 11 99521215 missense probably damaging 1.00
R6904:Krt39 UTSW 11 99519821 missense probably damaging 1.00
R7034:Krt39 UTSW 11 99521236 missense probably benign 0.19
R7036:Krt39 UTSW 11 99521236 missense probably benign 0.19
R7131:Krt39 UTSW 11 99520871 missense probably benign
R7424:Krt39 UTSW 11 99518091 missense probably damaging 1.00
R7449:Krt39 UTSW 11 99518061 missense probably benign 0.02
R7627:Krt39 UTSW 11 99514749 missense possibly damaging 0.80
R7774:Krt39 UTSW 11 99514611 splice site probably null
R7784:Krt39 UTSW 11 99521031 nonsense probably null
R7827:Krt39 UTSW 11 99519075 missense probably damaging 1.00
R8896:Krt39 UTSW 11 99518269 missense probably damaging 0.99
R8961:Krt39 UTSW 11 99519105 missense possibly damaging 0.52
Posted On2012-12-06