Incidental Mutation 'R9196:Krt23'
ID 697955
Institutional Source Beutler Lab
Gene Symbol Krt23
Ensembl Gene ENSMUSG00000006777
Gene Name keratin 23
Synonyms K23, Krt1-23, CK23
MMRRC Submission 068955-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R9196 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 99368799-99383946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99371855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 332 (I332N)
Ref Sequence ENSEMBL: ENSMUSP00000006969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006969]
AlphaFold Q99PS0
Predicted Effect probably benign
Transcript: ENSMUST00000006969
AA Change: I332N

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000006969
Gene: ENSMUSG00000006777
AA Change: I332N

DomainStartEndE-ValueType
Filament 71 381 9.77e-116 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 92% (35/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,605,644 (GRCm39) L176P probably benign Het
Abtb2 A T 2: 103,513,647 (GRCm39) H352L possibly damaging Het
Adgrf5 T C 17: 43,755,995 (GRCm39) V651A possibly damaging Het
Cc2d1b T A 4: 108,485,134 (GRCm39) L519Q probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cenpn G A 8: 117,658,344 (GRCm39) D97N probably damaging Het
Cfap54 A G 10: 92,873,753 (GRCm39) C576R probably benign Het
Col8a1 A T 16: 57,447,730 (GRCm39) D593E unknown Het
Dsel C T 1: 111,787,863 (GRCm39) E891K probably benign Het
Duox1 T C 2: 122,150,689 (GRCm39) Y255H probably benign Het
Fzd6 C A 15: 38,895,102 (GRCm39) L423M probably damaging Het
Fzd6 T G 15: 38,895,103 (GRCm39) L423R probably damaging Het
Galntl6 G T 8: 58,415,461 (GRCm39) L231I probably damaging Het
Grm5 T C 7: 87,723,518 (GRCm39) Y603H probably damaging Het
Hepacam A T 9: 37,279,052 (GRCm39) Q27L probably benign Het
Hibadh C T 6: 52,525,865 (GRCm39) V262I probably damaging Het
Hs3st1 T A 5: 39,771,962 (GRCm39) D227V probably damaging Het
Inpp1 A G 1: 52,833,778 (GRCm39) L106P probably damaging Het
Itprid1 A T 6: 55,952,613 (GRCm39) Q852L probably damaging Het
Jmy T A 13: 93,601,209 (GRCm39) D399V probably damaging Het
Lrrc23 T C 6: 124,755,189 (GRCm39) K116R possibly damaging Het
Myo10 T A 15: 25,805,716 (GRCm39) I1699N probably damaging Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Neto1 A T 18: 86,413,965 (GRCm39) probably benign Het
Nlrp9a T A 7: 26,258,158 (GRCm39) L592Q probably damaging Het
Nol10 A G 12: 17,455,316 (GRCm39) Q439R probably benign Het
Pcbp3 A G 10: 76,621,003 (GRCm39) S216P probably damaging Het
Pcdhb20 T A 18: 37,638,024 (GRCm39) H183Q probably benign Het
Reln A C 5: 22,357,471 (GRCm39) S198R probably damaging Het
Rtn4 T C 11: 29,658,471 (GRCm39) V875A probably benign Het
Skic2 T C 17: 35,068,877 (GRCm39) S41G probably benign Het
Sorbs2 A G 8: 46,258,864 (GRCm39) R1134G probably benign Het
Trpc4 A G 3: 54,129,872 (GRCm39) S213G probably damaging Het
Unc79 A G 12: 103,078,613 (GRCm39) I1593V probably benign Het
Uspl1 T C 5: 149,151,349 (GRCm39) S850P probably benign Het
Xrra1 T C 7: 99,563,699 (GRCm39) probably null Het
Ythdc2 T A 18: 44,988,464 (GRCm39) F717L probably damaging Het
Zfp606 T A 7: 12,227,935 (GRCm39) C685* probably null Het
Zfp764l1 T C 7: 126,990,761 (GRCm39) T409A probably benign Het
Other mutations in Krt23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Krt23 APN 11 99,383,610 (GRCm39) missense probably damaging 1.00
IGL01674:Krt23 APN 11 99,377,593 (GRCm39) missense probably benign
IGL01946:Krt23 APN 11 99,383,665 (GRCm39) missense possibly damaging 0.78
IGL02097:Krt23 APN 11 99,383,836 (GRCm39) missense probably benign 0.00
IGL02158:Krt23 APN 11 99,383,490 (GRCm39) splice site probably benign
IGL03077:Krt23 APN 11 99,374,700 (GRCm39) splice site probably benign
R0302:Krt23 UTSW 11 99,369,027 (GRCm39) missense probably benign 0.09
R0355:Krt23 UTSW 11 99,376,613 (GRCm39) missense probably benign 0.00
R0450:Krt23 UTSW 11 99,377,608 (GRCm39) missense probably damaging 1.00
R0456:Krt23 UTSW 11 99,377,604 (GRCm39) missense probably benign
R0469:Krt23 UTSW 11 99,377,608 (GRCm39) missense probably damaging 1.00
R0480:Krt23 UTSW 11 99,377,524 (GRCm39) critical splice donor site probably null
R0510:Krt23 UTSW 11 99,377,608 (GRCm39) missense probably damaging 1.00
R1052:Krt23 UTSW 11 99,369,045 (GRCm39) missense probably benign 0.02
R1729:Krt23 UTSW 11 99,383,790 (GRCm39) missense probably damaging 1.00
R1784:Krt23 UTSW 11 99,383,790 (GRCm39) missense probably damaging 1.00
R2901:Krt23 UTSW 11 99,374,797 (GRCm39) missense probably damaging 0.98
R2902:Krt23 UTSW 11 99,374,797 (GRCm39) missense probably damaging 0.98
R4059:Krt23 UTSW 11 99,376,614 (GRCm39) missense probably benign 0.16
R4544:Krt23 UTSW 11 99,369,102 (GRCm39) missense probably benign
R5272:Krt23 UTSW 11 99,369,099 (GRCm39) missense probably damaging 1.00
R6160:Krt23 UTSW 11 99,376,544 (GRCm39) missense probably damaging 0.99
R6190:Krt23 UTSW 11 99,376,584 (GRCm39) missense probably damaging 0.98
R6968:Krt23 UTSW 11 99,371,900 (GRCm39) missense probably damaging 1.00
R7293:Krt23 UTSW 11 99,374,682 (GRCm39) missense probably benign
R7568:Krt23 UTSW 11 99,383,626 (GRCm39) nonsense probably null
R8367:Krt23 UTSW 11 99,383,715 (GRCm39) nonsense probably null
R8868:Krt23 UTSW 11 99,374,567 (GRCm39) splice site probably benign
R9124:Krt23 UTSW 11 99,383,755 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACATTCACCATGGCTGAGACC -3'
(R):5'- GCATCACCCACAATGCCTTG -3'

Sequencing Primer
(F):5'- ACAGGAGTGTCACGTCCAG -3'
(R):5'- ACAATGCCTTGCGGAGAGGTC -3'
Posted On 2022-02-07