Incidental Mutation 'R7006:Krt20'
ID 544729
Institutional Source Beutler Lab
Gene Symbol Krt20
Ensembl Gene ENSMUSG00000035775
Gene Name keratin 20
Synonyms CK20, 9030623C06Rik, cytokeratin 20
MMRRC Submission 045011-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R7006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 99319229-99328976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99328587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 113 (Y113N)
Ref Sequence ENSEMBL: ENSMUSP00000017743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017743]
AlphaFold Q9D312
Predicted Effect probably benign
Transcript: ENSMUST00000017743
AA Change: Y113N

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775
AA Change: Y113N

low complexity region 3 26 N/A INTRINSIC
Filament 76 387 7.19e-146 SMART
low complexity region 410 431 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the keratin protein family and is found within a cluster of cytokeratin genes on chromosome 11. Keratins are cytoskeletal proteins that are preferentially expressed in epithelial cells. The encoded protein may help maintain intermediate filament organization in intestinal epithelium. Phosphorylation of this protein may also influence mucin secretion in the small intestine. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,447,853 (GRCm39) V41A probably benign Het
Adcy2 G A 13: 69,036,139 (GRCm39) T174M probably damaging Het
Ankfy1 T A 11: 72,631,290 (GRCm39) I412N probably benign Het
AW146154 T C 7: 41,130,648 (GRCm39) E156G possibly damaging Het
B4galnt1 T C 10: 127,005,700 (GRCm39) L267P probably benign Het
Bod1l T C 5: 41,989,895 (GRCm39) E276G probably damaging Het
Ccdc187 T C 2: 26,171,102 (GRCm39) T459A probably benign Het
Ccdc196 T A 12: 78,255,702 (GRCm39) *177R probably null Het
Cep72 G A 13: 74,198,427 (GRCm39) Q311* probably null Het
Cir1 T C 2: 73,140,834 (GRCm39) Q45R probably damaging Het
Ciz1 T C 2: 32,261,127 (GRCm39) probably null Het
Crtap G T 9: 114,215,391 (GRCm39) A166E probably damaging Het
Dipk1a A G 5: 108,058,027 (GRCm39) V132A probably benign Het
Dmp1 A G 5: 104,360,188 (GRCm39) D288G probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Fmnl2 C A 2: 52,998,266 (GRCm39) Q544K probably benign Het
Gpsm1 T C 2: 26,212,572 (GRCm39) L72P probably damaging Het
Gys1 G A 7: 45,089,437 (GRCm39) A199T probably damaging Het
Kcnq3 A C 15: 65,892,165 (GRCm39) Y403* probably null Het
Kcp A C 6: 29,499,169 (GRCm39) Y298D probably damaging Het
Kif5c T C 2: 49,625,526 (GRCm39) S599P probably damaging Het
Mcm8 T G 2: 132,665,181 (GRCm39) V191G probably damaging Het
Msr1 T A 8: 40,042,423 (GRCm39) D384V probably damaging Het
Mtpap A C 18: 4,380,873 (GRCm39) S184R possibly damaging Het
Npc1l1 G A 11: 6,167,731 (GRCm39) T1020M probably benign Het
Nphp4 A G 4: 152,573,259 (GRCm39) T66A probably benign Het
Or1o3 T A 17: 37,573,625 (GRCm39) *310L probably null Het
Or4f14 C A 2: 111,742,601 (GRCm39) V225L probably benign Het
Or8h10 G A 2: 86,808,303 (GRCm39) T279I probably damaging Het
Or8k18 T A 2: 86,085,572 (GRCm39) Q155L probably benign Het
Phf11d G T 14: 59,590,823 (GRCm39) T178K probably benign Het
Ppm1d A G 11: 85,227,977 (GRCm39) K298E possibly damaging Het
Rab2b A T 14: 52,503,690 (GRCm39) I144K probably benign Het
Stoml1 A G 9: 58,167,523 (GRCm39) D5G probably damaging Het
Styxl2 T C 1: 165,926,663 (GRCm39) N983S probably benign Het
Tanc1 T C 2: 59,626,188 (GRCm39) V515A probably damaging Het
Tas1r3 A G 4: 155,947,361 (GRCm39) V108A possibly damaging Het
Tifab T C 13: 56,324,059 (GRCm39) Y128C probably benign Het
Tmc6 G T 11: 117,665,083 (GRCm39) R397S probably damaging Het
Tnpo3 C T 6: 29,589,162 (GRCm39) A63T probably damaging Het
Trgc4 T A 13: 19,528,995 (GRCm39) probably benign Het
Usp16 G T 16: 87,268,724 (GRCm39) C284F probably damaging Het
Wipf1 T C 2: 73,267,441 (GRCm39) D319G probably damaging Het
Xpnpep3 T A 15: 81,326,649 (GRCm39) W347R probably damaging Het
Zfp180 G T 7: 23,804,537 (GRCm39) E319* probably null Het
Other mutations in Krt20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Krt20 APN 11 99,322,769 (GRCm39) missense probably benign 0.01
IGL01926:Krt20 APN 11 99,328,652 (GRCm39) missense probably damaging 1.00
IGL02105:Krt20 APN 11 99,328,827 (GRCm39) missense probably benign 0.01
IGL03225:Krt20 APN 11 99,322,756 (GRCm39) missense probably damaging 0.97
IGL03274:Krt20 APN 11 99,320,855 (GRCm39) splice site probably benign
IGL03331:Krt20 APN 11 99,326,256 (GRCm39) splice site probably null
R0091:Krt20 UTSW 11 99,328,640 (GRCm39) missense probably damaging 1.00
R0446:Krt20 UTSW 11 99,328,602 (GRCm39) nonsense probably null
R3955:Krt20 UTSW 11 99,323,037 (GRCm39) nonsense probably null
R4805:Krt20 UTSW 11 99,319,811 (GRCm39) missense unknown
R5156:Krt20 UTSW 11 99,320,879 (GRCm39) missense possibly damaging 0.92
R5620:Krt20 UTSW 11 99,326,283 (GRCm39) missense probably damaging 1.00
R6716:Krt20 UTSW 11 99,322,754 (GRCm39) missense possibly damaging 0.77
R8041:Krt20 UTSW 11 99,328,663 (GRCm39) missense probably damaging 1.00
R8296:Krt20 UTSW 11 99,323,063 (GRCm39) missense probably damaging 1.00
R9189:Krt20 UTSW 11 99,323,087 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-13