Incidental Mutation 'R8026:Krt19'
ID 617727
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 067465-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8026 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 100031636-100036752 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100032209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 285 (V285A)
Ref Sequence ENSEMBL: ENSMUSP00000007317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007317]
AlphaFold P19001
Predicted Effect probably damaging
Transcript: ENSMUST00000007317
AA Change: V285A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000007317
Gene: ENSMUSG00000020911
AA Change: V285A

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
Meta Mutation Damage Score 0.5111 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (66/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,611,723 (GRCm39) V513A probably damaging Het
Acsf2 C T 11: 94,453,714 (GRCm39) V416M probably damaging Het
Adrm1 G A 2: 179,817,002 (GRCm39) A225T unknown Het
Aldh9a1 T C 1: 167,180,236 (GRCm39) probably null Het
Apbb2 T C 5: 66,608,987 (GRCm39) D220G probably benign Het
Bace2 T C 16: 97,238,052 (GRCm39) V501A probably benign Het
Camsap1 T C 2: 25,828,214 (GRCm39) N1170S probably benign Het
Casr A G 16: 36,315,979 (GRCm39) V697A probably damaging Het
Clcn1 T C 6: 42,284,595 (GRCm39) probably null Het
Cobl T C 11: 12,203,459 (GRCm39) K1081R probably benign Het
Ctr9 T A 7: 110,633,099 (GRCm39) L116I probably damaging Het
Dennd4a T C 9: 64,780,312 (GRCm39) F616S probably damaging Het
Dynlt1a C T 17: 6,362,089 (GRCm39) G30S possibly damaging Het
Eif1 T C 11: 100,211,274 (GRCm39) S23P possibly damaging Het
Eml6 A C 11: 29,699,973 (GRCm39) L1721R possibly damaging Het
Fscb A G 12: 64,521,049 (GRCm39) I139T probably benign Het
Fstl4 A G 11: 52,959,496 (GRCm39) E179G probably damaging Het
Fuom T C 7: 139,680,067 (GRCm39) T95A Het
Gigyf1 C T 5: 137,523,740 (GRCm39) H1001Y probably damaging Het
Gm21886 T A 18: 80,132,961 (GRCm39) S66C probably damaging Het
Helz2 G A 2: 180,881,998 (GRCm39) T265I probably benign Het
Hs6st3 G T 14: 120,106,968 (GRCm39) V459F probably damaging Het
Ido2 A G 8: 25,025,156 (GRCm39) probably null Het
Idua A G 5: 108,818,115 (GRCm39) I96V probably benign Het
Iftap A T 2: 101,400,989 (GRCm39) probably benign Het
Inpp5j A G 11: 3,445,171 (GRCm39) S494P Het
Krt71 T G 15: 101,646,817 (GRCm39) D297A possibly damaging Het
L3hypdh G A 12: 72,131,723 (GRCm39) R70C probably damaging Het
Masp1 T C 16: 23,303,156 (GRCm39) Y324C probably damaging Het
Mfap2 A G 4: 140,741,114 (GRCm39) D25G possibly damaging Het
Mmp17 G A 5: 129,672,148 (GRCm39) probably null Het
Mroh7 G A 4: 106,578,634 (GRCm39) P15S probably benign Het
Muc5b T A 7: 141,417,373 (GRCm39) C3440S probably benign Het
Naip5 C A 13: 100,382,406 (GRCm39) S101I probably damaging Het
Neb A T 2: 52,113,060 (GRCm39) Y1066N Het
Nop56 T A 2: 130,119,188 (GRCm39) C38S probably benign Het
Nup214 T A 2: 31,923,362 (GRCm39) L1297Q possibly damaging Het
Oasl2 C A 5: 115,040,329 (GRCm39) probably benign Het
Or4a70 A G 2: 89,324,132 (GRCm39) F175L probably damaging Het
Or4c58 T C 2: 89,675,273 (GRCm39) N15D probably benign Het
Or51b4 A G 7: 103,530,904 (GRCm39) V182A possibly damaging Het
Or52a5 T A 7: 103,427,547 (GRCm39) I2F probably benign Het
Or5h24 T C 16: 58,918,731 (GRCm39) H208R unknown Het
Or8g4 T C 9: 39,662,092 (GRCm39) S137P possibly damaging Het
Pacrg C T 17: 10,795,496 (GRCm39) V155I probably benign Het
Patz1 A T 11: 3,257,658 (GRCm39) M96L probably benign Het
Pcca A G 14: 122,875,794 (GRCm39) D141G probably benign Het
Ptprr A G 10: 115,884,075 (GRCm39) Y44C probably damaging Het
Rad51ap1 A G 6: 126,911,675 (GRCm39) probably null Het
Raet1e A C 10: 22,057,198 (GRCm39) D174A probably damaging Het
Rhobtb2 T G 14: 70,034,214 (GRCm39) D337A probably benign Het
Sbf2 T C 7: 109,934,594 (GRCm39) K1377E probably damaging Het
Sh3pxd2b A G 11: 32,361,567 (GRCm39) K260E probably damaging Het
Slc4a8 A T 15: 100,685,170 (GRCm39) I234F possibly damaging Het
Srgap3 C T 6: 112,716,325 (GRCm39) R625H probably benign Het
Tbxas1 C T 6: 39,004,830 (GRCm39) T359I probably benign Het
Trim9 T A 12: 70,337,161 (GRCm39) S309C probably benign Het
Ttn G A 2: 76,659,483 (GRCm39) P12191S unknown Het
Unc80 A G 1: 66,522,463 (GRCm39) R222G possibly damaging Het
Vmn1r202 A T 13: 22,686,314 (GRCm39) H34Q possibly damaging Het
Vmn2r61 T A 7: 41,916,141 (GRCm39) N251K probably benign Het
Vmn2r67 A T 7: 84,785,924 (GRCm39) Y694N probably damaging Het
Vwde A G 6: 13,205,782 (GRCm39) F255S probably benign Het
Zfp532 T G 18: 65,758,227 (GRCm39) I720R possibly damaging Het
Zfp819 A G 7: 43,267,319 (GRCm39) T601A probably benign Het
Zfp853 G T 5: 143,274,280 (GRCm39) Q462K unknown 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
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'- TTCCAGGGCAGCTTTCTGAG -3'
(R):5'- AAGGATGCTGAAGCCACCTAC -3'

Sequencing Primer
(F):5'- CAGAGGCAGGTTCCTGAACAC -3'
(R):5'- CTACCTTGCTCGGGTATGCAGAG -3'
Posted On 2020-01-23