Incidental Mutation 'R3114:Krt24'
ID 263938
Institutional Source Beutler Lab
Gene Symbol Krt24
Ensembl Gene ENSMUSG00000020913
Gene Name keratin 24
Synonyms 2310058N18Rik, 2310075C18Rik
MMRRC Submission 040587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R3114 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 99170785-99176088 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99173262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 298 (T298S)
Ref Sequence ENSEMBL: ENSMUSP00000017255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017255]
AlphaFold A1L317
Predicted Effect possibly damaging
Transcript: ENSMUST00000017255
AA Change: T298S

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000017255
Gene: ENSMUSG00000020913
AA Change: T298S

DomainStartEndE-ValueType
Filament 140 456 5.23e-157 SMART
Meta Mutation Damage Score 0.1090 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 C T 15: 102,442,858 (GRCm39) S417N probably benign Het
Cdt1 C T 8: 123,297,221 (GRCm39) Q305* probably null Het
Cfap65 T A 1: 74,966,291 (GRCm39) K345N probably damaging Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Col11a2 T G 17: 34,265,442 (GRCm39) V276G possibly damaging Het
Dnah8 A G 17: 31,052,542 (GRCm39) S4346G probably benign Het
Dnhd1 T C 7: 105,345,772 (GRCm39) probably null Het
Espl1 T A 15: 102,231,639 (GRCm39) F1945Y possibly damaging Het
Fzd5 A G 1: 64,774,739 (GRCm39) F341L probably benign Het
Gm1587 T G 14: 78,036,272 (GRCm39) E11D unknown Het
H3c3 C A 13: 23,929,290 (GRCm39) R64L probably benign Het
Ighv5-1 A G 12: 113,537,844 (GRCm39) probably benign Het
Klhl3 A G 13: 58,198,841 (GRCm39) probably null Het
Klhl33 A T 14: 51,128,972 (GRCm39) D752E possibly damaging Het
Marchf1 A C 8: 66,840,033 (GRCm39) H272P probably benign Het
Meak7 G A 8: 120,495,056 (GRCm39) A234V probably benign Het
Mei1 C T 15: 82,009,160 (GRCm39) A835V probably benign Het
Mier3 T A 13: 111,843,182 (GRCm39) I178N probably damaging Het
Mlxipl A G 5: 135,162,516 (GRCm39) probably benign Het
Mob3a A T 10: 80,527,136 (GRCm39) V63E probably damaging Het
Nos3 C T 5: 24,577,629 (GRCm39) probably benign Het
Or4a2 T A 2: 89,248,757 (GRCm39) probably null Het
Pcdha11 T A 18: 37,144,860 (GRCm39) I317K probably damaging Het
Pcdha4 T C 18: 37,086,603 (GRCm39) V262A probably benign Het
Pde4d T A 13: 110,084,792 (GRCm39) M519K probably damaging Het
Pds5a A G 5: 65,776,328 (GRCm39) S89P probably damaging Het
Ptar1 T A 19: 23,695,459 (GRCm39) C309S probably benign Het
Rint1 A G 5: 24,024,418 (GRCm39) N682S probably benign Het
Rnmt A G 18: 68,447,079 (GRCm39) E321G probably benign Het
Serpinb8 A G 1: 107,535,023 (GRCm39) I365V probably benign Het
Sik1 T C 17: 32,067,106 (GRCm39) T505A probably benign Het
Slfn10-ps T A 11: 82,919,955 (GRCm39) noncoding transcript Het
Spmip8 T C 8: 96,039,809 (GRCm39) probably null Het
Sspn A T 6: 145,880,095 (GRCm39) I66F possibly damaging Het
Tsc22d1 T C 14: 76,654,777 (GRCm39) S337P probably damaging Het
Wdfy4 A G 14: 32,811,860 (GRCm39) S1715P probably damaging Het
Other mutations in Krt24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01907:Krt24 APN 11 99,176,030 (GRCm39) missense unknown
R0128:Krt24 UTSW 11 99,171,093 (GRCm39) missense probably damaging 0.98
R0561:Krt24 UTSW 11 99,175,439 (GRCm39) missense probably damaging 1.00
R1668:Krt24 UTSW 11 99,175,444 (GRCm39) missense probably benign 0.16
R2018:Krt24 UTSW 11 99,173,277 (GRCm39) missense probably damaging 1.00
R2307:Krt24 UTSW 11 99,175,456 (GRCm39) missense possibly damaging 0.48
R3115:Krt24 UTSW 11 99,173,262 (GRCm39) missense possibly damaging 0.85
R3116:Krt24 UTSW 11 99,173,262 (GRCm39) missense possibly damaging 0.85
R3979:Krt24 UTSW 11 99,173,596 (GRCm39) missense probably benign 0.23
R4805:Krt24 UTSW 11 99,174,452 (GRCm39) missense possibly damaging 0.53
R5347:Krt24 UTSW 11 99,173,556 (GRCm39) missense probably damaging 1.00
R5858:Krt24 UTSW 11 99,175,591 (GRCm39) missense probably damaging 1.00
R8369:Krt24 UTSW 11 99,173,534 (GRCm39) nonsense probably null
R9587:Krt24 UTSW 11 99,174,453 (GRCm39) missense probably damaging 1.00
X0028:Krt24 UTSW 11 99,171,859 (GRCm39) nonsense probably null
Z1176:Krt24 UTSW 11 99,175,712 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGCAGGGATGCACTCTAAATG -3'
(R):5'- AGGCATTTTCCACCACATCC -3'

Sequencing Primer
(F):5'- ATAGAGCACAGTTAGTTGTCCTAGGC -3'
(R):5'- CAATGGTAACCAGTTCTCCTCCAGG -3'
Posted On 2015-02-05