Incidental Mutation 'IGL03225:Krt20'
ID 413774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt20
Ensembl Gene ENSMUSG00000035775
Gene Name keratin 20
Synonyms CK20, 9030623C06Rik, cytokeratin 20
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL03225
Quality Score
Status
Chromosome 11
Chromosomal Location 99319229-99328976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99322756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 293 (V293A)
Ref Sequence ENSEMBL: ENSMUSP00000017743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017743]
AlphaFold Q9D312
Predicted Effect probably damaging
Transcript: ENSMUST00000017743
AA Change: V293A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775
AA Change: V293A

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
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A G 7: 50,249,668 (GRCm39) K234R probably benign Het
Adam21 T C 12: 81,606,043 (GRCm39) E573G probably benign Het
Aox4 A T 1: 58,286,386 (GRCm39) I673F possibly damaging Het
Arfgef1 A T 1: 10,224,543 (GRCm39) I1431N probably damaging Het
Cask A G X: 13,531,760 (GRCm39) M103V possibly damaging Het
Clba1 T C 12: 112,779,211 (GRCm39) Y283H probably damaging Het
Fam83h T C 15: 75,875,150 (GRCm39) E729G probably damaging Het
Gnb4 T C 3: 32,641,881 (GRCm39) T249A probably damaging Het
Gpr12 A G 5: 146,520,761 (GRCm39) S54P probably damaging Het
Lonrf1 A G 8: 36,689,855 (GRCm39) V706A probably damaging Het
Lrrc58 T G 16: 37,701,632 (GRCm39) C303W probably damaging Het
Mbnl2 A G 14: 120,622,875 (GRCm39) T138A probably benign Het
Mss51 G A 14: 20,537,205 (GRCm39) R88* probably null Het
Nup214 T A 2: 31,924,423 (GRCm39) S146T probably damaging Het
Otop2 G A 11: 115,220,633 (GRCm39) R491H probably damaging Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Prkcz A T 4: 155,352,652 (GRCm39) F492I probably damaging Het
Sgtb T C 13: 104,268,453 (GRCm39) L163P probably damaging Het
Spsb3 T C 17: 25,110,045 (GRCm39) I365T possibly damaging Het
Tmem273 A G 14: 32,527,133 (GRCm39) I33M probably damaging Het
Trio T C 15: 27,902,781 (GRCm39) I227V probably benign Het
Vdac1 G A 11: 52,267,482 (GRCm39) R93H probably benign Het
Wasf2 A G 4: 132,903,857 (GRCm39) T22A probably benign 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
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
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
Posted On 2016-08-02