Incidental Mutation 'R2416:Krt19'
ID 249012
Institutional Source Beutler Lab
Gene Symbol Krt19
Ensembl Gene ENSMUSG00000020911
Gene Name keratin 19
Synonyms cytokeratin 19, cytokeratin19, Krt-1.19, EndoC, K19, cytokeratin-19, Krt1-19
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2416 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100031636-100036752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100036433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 85 (I85V)
Ref Sequence ENSEMBL: ENSMUSP00000007317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007317]
AlphaFold P19001
Predicted Effect probably benign
Transcript: ENSMUST00000007317
AA Change: I85V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007317
Gene: ENSMUSG00000020911
AA Change: I85V

DomainStartEndE-ValueType
low complexity region 10 29 N/A INTRINSIC
low complexity region 38 70 N/A INTRINSIC
Filament 82 393 4.4e-173 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126460
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-in allele are viable. Mice homozygous for a reporter allele show partial and strain-dependent preweaning lethality but no anatomical or behavioral defects. Mice that are either homozygous or heterozygous for a targeted insertion into intron 6 exhibit sperm tail defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,385,791 (GRCm39) D58G probably benign Het
Atp8a2 T C 14: 60,162,457 (GRCm39) R755G probably damaging Het
Bard1 G T 1: 71,113,811 (GRCm39) T390N probably benign Het
Birc6 T C 17: 74,915,214 (GRCm39) S1635P possibly damaging Het
Cep152 A T 2: 125,406,092 (GRCm39) L1480* probably null Het
Cryba1 T A 11: 77,611,726 (GRCm39) I116F probably damaging Het
Cttnbp2 A G 6: 18,448,285 (GRCm39) S125P probably damaging Het
Cyp2b13 A G 7: 25,795,246 (GRCm39) *492W probably null Het
Eif3m G T 2: 104,844,178 (GRCm39) P76T probably benign Het
Eya1 A G 1: 14,340,927 (GRCm39) probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fat1 T C 8: 45,479,420 (GRCm39) I2822T probably damaging Het
Glyat T A 19: 12,628,618 (GRCm39) S138T possibly damaging Het
Gpr160 A G 3: 30,950,158 (GRCm39) T77A probably benign Het
Hdac1-ps G T 17: 78,799,945 (GRCm39) W312L probably damaging Het
Mbtps1 A G 8: 120,265,656 (GRCm39) I297T probably damaging Het
Park7 A G 4: 150,992,858 (GRCm39) S3P probably benign Het
Rtel1 C T 2: 180,982,324 (GRCm39) T358I possibly damaging Het
Slc11a1 T C 1: 74,422,803 (GRCm39) L311P probably damaging Het
Ulk2 C T 11: 61,672,865 (GRCm39) G910R probably damaging Het
Zdhhc14 G A 17: 5,803,283 (GRCm39) R462H probably benign Het
Zfp382 A G 7: 29,833,828 (GRCm39) Y493C probably damaging Het
Other mutations in Krt19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02999:Krt19 APN 11 100,032,235 (GRCm39) splice site probably benign
R0755:Krt19 UTSW 11 100,032,965 (GRCm39) missense possibly damaging 0.87
R2226:Krt19 UTSW 11 100,032,401 (GRCm39) missense probably damaging 1.00
R4811:Krt19 UTSW 11 100,032,174 (GRCm39) missense possibly damaging 0.85
R7764:Krt19 UTSW 11 100,032,218 (GRCm39) missense probably benign 0.07
R8026:Krt19 UTSW 11 100,032,209 (GRCm39) missense probably damaging 0.99
R8669:Krt19 UTSW 11 100,031,993 (GRCm39) missense probably damaging 1.00
R8919:Krt19 UTSW 11 100,031,980 (GRCm39) missense probably damaging 1.00
R8952:Krt19 UTSW 11 100,031,768 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GGCTGAGTTTCCACAACCTC -3'
(R):5'- TCAGTACGCATTGGGTCAG -3'

Sequencing Primer
(F):5'- AACAGGTGCACCTCCCAGG -3'
(R):5'- CAGGGGGTGTTTTCCGC -3'
Posted On 2014-11-12