Incidental Mutation 'R8952:Krt19'
ID 681718
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
MMRRC Submission 068714-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8952 (G1)
Quality Score 212.009
Status Validated
Chromosome 11
Chromosomal Location 100031636-100036752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100031768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 395 (N395Y)
Ref Sequence ENSEMBL: ENSMUSP00000007317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007317]
AlphaFold P19001
Predicted Effect possibly damaging
Transcript: ENSMUST00000007317
AA Change: N395Y

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000007317
Gene: ENSMUSG00000020911
AA Change: N395Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (45/45)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap T A 7: 26,900,025 (GRCm39) S134T probably damaging Het
Adamts12 A G 15: 11,286,065 (GRCm39) N758S probably damaging Het
Asb3 C A 11: 31,008,959 (GRCm39) Q287K probably damaging Het
Bach1 T A 16: 87,512,353 (GRCm39) N25K probably damaging Het
Carmil2 T A 8: 106,417,398 (GRCm39) V552E possibly damaging Het
Cyth4 A G 15: 78,486,937 (GRCm39) I22V probably benign Het
Dock3 A G 9: 106,850,958 (GRCm39) F848S probably benign Het
Dytn G A 1: 63,698,111 (GRCm39) R299C Het
Fbxl18 C T 5: 142,871,502 (GRCm39) A578T probably damaging Het
Galr1 C T 18: 82,411,909 (GRCm39) C319Y probably damaging Het
Gstm7 T C 3: 107,838,757 (GRCm39) probably benign Het
Hspa1l G T 17: 35,196,946 (GRCm39) M328I probably benign Het
Itgad A T 7: 127,789,324 (GRCm39) Y596F probably damaging Het
Lrit1 G A 14: 36,783,664 (GRCm39) A331T probably damaging Het
Mmp1b C T 9: 7,386,346 (GRCm39) V192I possibly damaging Het
Mrc1 C T 2: 14,253,735 (GRCm39) A252V probably damaging Het
Mucl2 C T 15: 103,929,445 (GRCm39) probably null Het
Nbeal1 A G 1: 60,299,459 (GRCm39) D1265G probably benign Het
Ndc1 T C 4: 107,247,623 (GRCm39) I477T probably benign Het
Neo1 A G 9: 58,897,545 (GRCm39) F137S probably benign Het
Nos2 A G 11: 78,836,089 (GRCm39) N384S probably benign Het
Nup133 T C 8: 124,634,500 (GRCm39) I1031V probably damaging Het
Nup98 A G 7: 101,835,859 (GRCm39) Y195H probably damaging Het
Obscn C T 11: 59,026,960 (GRCm39) C81Y probably damaging Het
Or1j10 A G 2: 36,267,402 (GRCm39) I205V probably benign Het
Pfn2 T C 3: 57,752,756 (GRCm39) D55G probably damaging Het
Pif1 A G 9: 65,499,499 (GRCm39) K485R probably damaging Het
Polr1e A G 4: 45,018,727 (GRCm39) E19G probably damaging Het
Prkdc T A 16: 15,491,624 (GRCm39) probably benign Het
Proca1 A C 11: 78,095,773 (GRCm39) H135P probably benign Het
Psd T C 19: 46,310,900 (GRCm39) K383R probably damaging Het
Ptcd1 A G 5: 145,091,944 (GRCm39) L385P probably damaging Het
Ptpra T G 2: 130,386,969 (GRCm39) I620S probably damaging Het
Rad54l2 T A 9: 106,566,050 (GRCm39) probably benign Het
Sgsm1 A T 5: 113,432,861 (GRCm39) N262K probably damaging Het
Stat1 G T 1: 52,187,042 (GRCm39) V450F probably benign Het
Thada G A 17: 84,736,524 (GRCm39) T919I probably benign Het
Thsd7a A T 6: 12,468,992 (GRCm39) L529I probably damaging Het
Ttn A G 2: 76,748,863 (GRCm39) V4062A probably benign Het
Usp9y A C Y: 1,332,662 (GRCm39) probably benign Het
Vmn2r98 A G 17: 19,285,531 (GRCm39) Y117C possibly damaging Het
Wdr33 A T 18: 31,960,393 (GRCm39) H19L possibly damaging Het
Wdr76 C A 2: 121,372,899 (GRCm39) H575Q probably benign Het
Xab2 A G 8: 3,663,875 (GRCm39) V348A probably damaging Het
Zfhx2 A T 14: 55,310,207 (GRCm39) Y780N possibly damaging Het
Zmynd12 T C 4: 119,302,081 (GRCm39) probably null 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
R2416:Krt19 UTSW 11 100,036,433 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TGCCATAGCTCTAGCAATATGC -3'
(R):5'- TCACAGATCCAGAGCGTGATC -3'

Sequencing Primer
(F):5'- GGGGCTAAGACATGACCCATC -3'
(R):5'- ATCAGCGGTTTTGAAGCCCAG -3'
Posted On 2021-08-31