Incidental Mutation 'IGL01455:Krt20'
ID84755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt20
Ensembl Gene ENSMUSG00000035775
Gene Namekeratin 20
SynonymsCK20, 9030623C06Rik, cytokeratin 20
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL01455
Quality Score
Status
Chromosome11
Chromosomal Location99428403-99438150 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 99431943 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 289 (F289I)
Ref Sequence ENSEMBL: ENSMUSP00000017743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017743]
Predicted Effect probably benign
Transcript: ENSMUST00000017743
AA Change: F289I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775
AA Change: F289I

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,323,305 D87G possibly damaging Het
Adgra3 G A 5: 49,987,557 R565* probably null Het
Akap12 C T 10: 4,356,886 T1232I probably damaging Het
B3gnt2 A T 11: 22,837,042 W49R probably damaging Het
Ccdc112 T A 18: 46,293,444 K137N possibly damaging Het
Ccdc117 G T 11: 5,534,297 T181K possibly damaging Het
Cfh T C 1: 140,105,539 K756E possibly damaging Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cyp2c29 T A 19: 39,329,117 I349K possibly damaging Het
Dcaf15 T C 8: 84,098,590 T434A probably benign Het
Entpd5 T C 12: 84,394,677 I106V probably benign Het
Eps8l1 T A 7: 4,478,923 probably benign Het
Erbin G T 13: 103,859,387 P269Q probably damaging Het
Fam172a A T 13: 77,902,647 probably benign Het
Fbxw22 C T 9: 109,384,994 M251I probably benign Het
Fgd4 T A 16: 16,490,490 T9S probably benign Het
Gm17689 T A 9: 36,581,363 H82L probably benign Het
Haus8 T C 8: 71,253,231 I270V probably benign Het
Herc4 T A 10: 63,286,143 probably null Het
Hspg2 G A 4: 137,553,817 V3367M probably damaging Het
Htr1f A T 16: 64,926,022 F302L probably damaging Het
Inpp5f T C 7: 128,678,049 C458R probably damaging Het
Klhl18 T C 9: 110,432,443 E411G probably damaging Het
Mical1 T C 10: 41,479,069 probably null Het
Nav1 T C 1: 135,469,635 D932G probably benign Het
Nme4 A T 17: 26,092,062 D176E probably benign Het
Nox4 C T 7: 87,376,216 S517L possibly damaging Het
Olfr341 A T 2: 36,479,356 L258H probably damaging Het
Pip5k1a T C 3: 95,068,160 D333G probably benign Het
Polb T C 8: 22,653,072 Y36C probably damaging Het
Spta1 T C 1: 174,203,311 I953T possibly damaging Het
Sptb A T 12: 76,612,912 D1071E probably damaging Het
Stxbp3-ps T C 19: 9,558,007 noncoding transcript Het
Tmcc3 A T 10: 94,586,755 I356F probably damaging Het
Tmem262 G T 19: 6,080,159 R6L probably damaging Het
Tnks C A 8: 34,940,900 V225L probably damaging Het
Other mutations in Krt20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Krt20 APN 11 99437826 missense probably damaging 1.00
IGL02105:Krt20 APN 11 99438001 missense probably benign 0.01
IGL03225:Krt20 APN 11 99431930 missense probably damaging 0.97
IGL03274:Krt20 APN 11 99430029 splice site probably benign
IGL03331:Krt20 APN 11 99435430 splice site probably null
R0091:Krt20 UTSW 11 99437814 missense probably damaging 1.00
R0446:Krt20 UTSW 11 99437776 nonsense probably null
R3955:Krt20 UTSW 11 99432211 nonsense probably null
R4805:Krt20 UTSW 11 99428985 missense unknown
R5156:Krt20 UTSW 11 99430053 missense possibly damaging 0.92
R5620:Krt20 UTSW 11 99435457 missense probably damaging 1.00
R6716:Krt20 UTSW 11 99431928 missense possibly damaging 0.77
R7006:Krt20 UTSW 11 99437761 missense probably benign 0.34
R8041:Krt20 UTSW 11 99437837 missense probably damaging 1.00
Posted On2013-11-11