Incidental Mutation 'IGL02097:Krt23'
ID 279636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt23
Ensembl Gene ENSMUSG00000006777
Gene Name keratin 23
Synonyms CK23, Krt1-23, K23
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02097
Quality Score
Status
Chromosome 11
Chromosomal Location 99477974-99493137 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99493010 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 19 (G19R)
Ref Sequence ENSEMBL: ENSMUSP00000006969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006969]
AlphaFold Q99PS0
Predicted Effect probably benign
Transcript: ENSMUST00000006969
AA Change: G19R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000006969
Gene: ENSMUSG00000006777
AA Change: G19R

DomainStartEndE-ValueType
Filament 71 381 9.77e-116 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A T 5: 104,961,186 V415D possibly damaging Het
Adcy3 C T 12: 4,212,118 A1056V probably damaging Het
Adcy5 G A 16: 35,272,098 A610T probably damaging Het
Arhgap21 G A 2: 20,880,002 T788I probably benign Het
Asic1 T C 15: 99,694,686 probably benign Het
Cdhr4 T A 9: 107,993,000 M68K probably benign Het
Cdhr5 G T 7: 141,269,981 T637K probably damaging Het
Corin A T 5: 72,372,146 C289S probably damaging Het
Cpne4 T C 9: 104,686,502 V26A probably damaging Het
Csmd1 T C 8: 16,211,759 D908G probably null Het
Cyp2c29 A G 19: 39,307,620 D126G probably damaging Het
Ddx42 G A 11: 106,239,160 S426N probably benign Het
Dnah1 C T 14: 31,305,001 V689M possibly damaging Het
Dtwd1 A G 2: 126,164,795 T246A probably damaging Het
Fbn1 A T 2: 125,363,969 M1036K probably damaging Het
Fbxo10 T C 4: 45,048,527 N536S probably benign Het
Gnal G A 18: 67,217,208 probably benign Het
Gns A G 10: 121,390,693 T416A probably benign Het
Heatr5b G A 17: 78,817,514 T603I probably damaging Het
Hsp90b1 T A 10: 86,691,684 probably benign Het
Lama2 C T 10: 27,138,960 R1584H probably benign Het
Lmbr1l C T 15: 98,917,891 V11M probably damaging Het
Man1a2 T C 3: 100,582,131 K511E possibly damaging Het
Mrgpra3 C A 7: 47,589,456 V241F possibly damaging Het
Myh3 A G 11: 67,082,924 D141G probably benign Het
Mylk2 G A 2: 152,915,136 C277Y probably damaging Het
Myo3b A T 2: 70,238,829 T471S probably damaging Het
Naip1 A G 13: 100,425,588 V1023A probably benign Het
Olfm5 T A 7: 104,154,231 T342S probably benign Het
Olfr1510 A G 14: 52,410,054 F273L probably benign Het
Olfr38 T A 6: 42,762,460 M136K probably damaging Het
Pglyrp4 T C 3: 90,735,603 F263L probably benign Het
Plekhh2 A T 17: 84,599,180 T1148S possibly damaging Het
Prrc2b T C 2: 32,191,501 probably benign Het
Rbm28 G T 6: 29,138,618 D398E possibly damaging Het
Rnf220 A G 4: 117,273,327 F234L probably benign Het
Sele T C 1: 164,053,093 S415P probably benign Het
Shpk T C 11: 73,203,995 L79P probably damaging Het
Slc35f4 C T 14: 49,306,246 A148T probably damaging Het
Slc6a20a G A 9: 123,660,619 P120S possibly damaging Het
Slc8a2 A G 7: 16,157,156 E701G possibly damaging Het
Slco1a1 T A 6: 141,940,039 I87F possibly damaging Het
Srebf1 T G 11: 60,202,824 D739A probably damaging Het
Thg1l A G 11: 45,950,228 Y175H probably benign Het
Traf3ip2 G A 10: 39,654,479 V540M probably damaging Het
Wdr48 A G 9: 119,924,263 D644G probably damaging Het
Zbtb1 A T 12: 76,386,597 K452N probably damaging Het
Zfhx2 C T 14: 55,062,894 G2467R probably damaging Het
Zfp334 A T 2: 165,381,723 Y133* probably null Het
Other mutations in Krt23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Krt23 APN 11 99492784 missense probably damaging 1.00
IGL01674:Krt23 APN 11 99486767 missense probably benign
IGL01946:Krt23 APN 11 99492839 missense possibly damaging 0.78
IGL02158:Krt23 APN 11 99492664 splice site probably benign
IGL03077:Krt23 APN 11 99483874 splice site probably benign
R0302:Krt23 UTSW 11 99478201 missense probably benign 0.09
R0355:Krt23 UTSW 11 99485787 missense probably benign 0.00
R0450:Krt23 UTSW 11 99486782 missense probably damaging 1.00
R0456:Krt23 UTSW 11 99486778 missense probably benign
R0469:Krt23 UTSW 11 99486782 missense probably damaging 1.00
R0480:Krt23 UTSW 11 99486698 critical splice donor site probably null
R0510:Krt23 UTSW 11 99486782 missense probably damaging 1.00
R1052:Krt23 UTSW 11 99478219 missense probably benign 0.02
R1729:Krt23 UTSW 11 99492964 missense probably damaging 1.00
R1784:Krt23 UTSW 11 99492964 missense probably damaging 1.00
R2901:Krt23 UTSW 11 99483971 missense probably damaging 0.98
R2902:Krt23 UTSW 11 99483971 missense probably damaging 0.98
R4059:Krt23 UTSW 11 99485788 missense probably benign 0.16
R4544:Krt23 UTSW 11 99478276 missense probably benign
R5272:Krt23 UTSW 11 99478273 missense probably damaging 1.00
R6160:Krt23 UTSW 11 99485718 missense probably damaging 0.99
R6190:Krt23 UTSW 11 99485758 missense probably damaging 0.98
R6968:Krt23 UTSW 11 99481074 missense probably damaging 1.00
R7293:Krt23 UTSW 11 99483856 missense probably benign
R7568:Krt23 UTSW 11 99492800 nonsense probably null
R8367:Krt23 UTSW 11 99492889 nonsense probably null
R8868:Krt23 UTSW 11 99483741 splice site probably benign
R9124:Krt23 UTSW 11 99492929 missense probably damaging 1.00
R9196:Krt23 UTSW 11 99481029 missense probably benign 0.27
Posted On 2015-04-16