Incidental Mutation 'R6716:Krt20'
ID 529406
Institutional Source Beutler Lab
Gene Symbol Krt20
Ensembl Gene ENSMUSG00000035775
Gene Name keratin 20
Synonyms CK20, 9030623C06Rik, cytokeratin 20
MMRRC Submission 044834-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6716 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 99319229-99328976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99322754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 294 (T294A)
Ref Sequence ENSEMBL: ENSMUSP00000017743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017743]
AlphaFold Q9D312
Predicted Effect possibly damaging
Transcript: ENSMUST00000017743
AA Change: T294A

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775
AA Change: T294A

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.4%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp7 C T 2: 172,714,682 (GRCm39) A376T probably damaging Het
Bnip2 T C 9: 69,910,943 (GRCm39) I296T probably damaging Het
Chrm2 T A 6: 36,501,370 (GRCm39) I409N probably damaging Het
Fat3 T A 9: 15,830,565 (GRCm39) T4310S probably benign Het
Kdm2a A G 19: 4,379,130 (GRCm39) S122P probably damaging Het
Macf1 C T 4: 123,402,231 (GRCm39) S635N probably damaging Het
Nphs2 A G 1: 156,148,637 (GRCm39) S242G probably benign Het
Prss23 A C 7: 89,159,055 (GRCm39) I338S probably damaging Het
Rab11fip3 G T 17: 26,210,031 (GRCm39) S1028R probably damaging Het
Rlig1 T G 10: 100,409,478 (GRCm39) I312L probably benign Het
Sec23a C T 12: 59,015,609 (GRCm39) G711D probably benign Het
Slc50a1 T C 3: 89,177,214 (GRCm39) T68A probably damaging Het
Sphkap C T 1: 83,339,949 (GRCm39) probably null Het
Tas2r122 A T 6: 132,688,860 (GRCm39) I11N probably damaging Het
Tpr C T 1: 150,290,516 (GRCm39) R782C probably damaging Het
Vps13c T C 9: 67,858,749 (GRCm39) L2733P probably benign Het
Vtn C T 11: 78,391,052 (GRCm39) R211C probably damaging Het
Xrcc1 T C 7: 24,266,571 (GRCm39) probably null Het
Zc2hc1b T C 10: 13,047,027 (GRCm39) D28G probably damaging 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
R7006:Krt20 UTSW 11 99,328,587 (GRCm39) missense probably benign 0.34
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
(F):5'- TGTTGGCTCTGCAAGGGAAG -3'
(R):5'- AGACAGGTAATTCTAGTCTGGGG -3'

Sequencing Primer
(F):5'- TGCAAGGGAAGAGGTTATTTATTACG -3'
(R):5'- CCACGGAGAGAGATGATGTTTTCTC -3'
Posted On 2018-08-01