Incidental Mutation 'R4244:Krt28'
ID 320354
Institutional Source Beutler Lab
Gene Symbol Krt28
Ensembl Gene ENSMUSG00000055937
Gene Name keratin 28
Synonyms 4733401L19Rik
MMRRC Submission 041060-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4244 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 99255698-99265729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 99265376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 97 (S97Y)
Ref Sequence ENSEMBL: ENSMUSP00000006963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006963]
AlphaFold A6BLY7
Predicted Effect probably damaging
Transcript: ENSMUST00000006963
AA Change: S97Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: S97Y

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
Filament 83 398 4.6e-144 SMART
Meta Mutation Damage Score 0.2828 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (47/48)
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, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b T C 1: 36,740,911 (GRCm39) Y171C possibly damaging Het
Ap1g1 G A 8: 110,560,122 (GRCm39) S281N probably benign Het
Arfgef3 C A 10: 18,506,168 (GRCm39) G878V probably damaging Het
Ccdc137 T C 11: 120,352,844 (GRCm39) F196S probably damaging Het
Ccdc18 C T 5: 108,296,838 (GRCm39) Q214* probably null Het
Ccrl2 T C 9: 110,884,422 (GRCm39) I359V probably benign Het
Cdh20 C T 1: 104,869,868 (GRCm39) T196I probably damaging Het
Cfap20dc T C 14: 8,482,521 (GRCm38) T551A probably benign Het
Col6a3 G T 1: 90,714,361 (GRCm39) T1683K unknown Het
Copa A G 1: 171,938,285 (GRCm39) I524V probably benign Het
Cyld A T 8: 89,457,383 (GRCm39) R536* probably null Het
Dock10 T A 1: 80,544,472 (GRCm39) E905V probably benign Het
Dock5 A G 14: 68,012,031 (GRCm39) F1348L probably benign Het
Efcab3 A T 11: 105,002,629 (GRCm39) K5664I probably damaging Het
Gm5174 C A 10: 86,492,144 (GRCm39) noncoding transcript Het
Gm9892 A T 8: 52,649,435 (GRCm39) noncoding transcript Het
Grm4 A G 17: 27,721,709 (GRCm39) I144T probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Map3k6 T C 4: 132,979,258 (GRCm39) Y1204H possibly damaging Het
Mfsd2b G T 12: 4,924,356 (GRCm39) probably benign Het
Nav3 T C 10: 109,605,157 (GRCm39) D972G probably damaging Het
Or2ak6 T G 11: 58,593,277 (GRCm39) L250R probably damaging Het
Or2y3 C T 17: 38,393,321 (GRCm39) V183I probably benign Het
Or5d39 T C 2: 87,979,632 (GRCm39) T244A probably benign Het
Prex1 G A 2: 166,412,256 (GRCm39) R392W probably damaging Het
Ptpn5 C T 7: 46,741,296 (GRCm39) W38* probably null Het
Rab3gap1 T C 1: 127,865,304 (GRCm39) probably null Het
Rfx7 A G 9: 72,499,051 (GRCm39) T72A possibly damaging Het
Scn7a T C 2: 66,572,345 (GRCm39) I209V probably benign Het
Sh3d21 C T 4: 126,044,511 (GRCm39) probably benign Het
Slc27a1 A G 8: 72,037,617 (GRCm39) T535A probably benign Het
Slc5a5 A G 8: 71,342,930 (GRCm39) V210A probably benign Het
Snx25 A G 8: 46,558,291 (GRCm39) C239R probably damaging Het
Sp5 T C 2: 70,307,382 (GRCm39) F356L probably damaging Het
Spaca9 T C 2: 28,582,998 (GRCm39) I141V probably benign Het
Tbcd T A 11: 121,485,107 (GRCm39) L763H probably damaging Het
Thnsl1 A G 2: 21,217,059 (GRCm39) E271G probably benign Het
Vmn1r79 T A 7: 11,910,971 (GRCm39) C284* probably null Het
Vwa5a T C 9: 38,649,112 (GRCm39) probably benign Het
Zar1 T C 5: 72,737,736 (GRCm39) E121G possibly damaging Het
Zscan29 C T 2: 120,995,275 (GRCm39) probably null Het
Other mutations in Krt28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Krt28 APN 11 99,262,294 (GRCm39) missense probably benign 0.00
IGL01568:Krt28 APN 11 99,262,243 (GRCm39) missense probably damaging 1.00
IGL01590:Krt28 APN 11 99,265,220 (GRCm39) critical splice donor site probably null
R1250:Krt28 UTSW 11 99,257,648 (GRCm39) critical splice donor site probably null
R1488:Krt28 UTSW 11 99,255,997 (GRCm39) missense probably benign 0.01
R2116:Krt28 UTSW 11 99,255,943 (GRCm39) missense probably benign 0.27
R4862:Krt28 UTSW 11 99,255,936 (GRCm39) missense possibly damaging 0.92
R4928:Krt28 UTSW 11 99,265,458 (GRCm39) missense probably benign 0.00
R5035:Krt28 UTSW 11 99,257,650 (GRCm39) missense probably benign 0.00
R5568:Krt28 UTSW 11 99,262,210 (GRCm39) missense probably damaging 1.00
R5642:Krt28 UTSW 11 99,265,320 (GRCm39) missense probably damaging 1.00
R5873:Krt28 UTSW 11 99,257,716 (GRCm39) missense probably damaging 1.00
R6053:Krt28 UTSW 11 99,262,027 (GRCm39) missense probably benign 0.05
R6548:Krt28 UTSW 11 99,257,839 (GRCm39) missense probably damaging 1.00
R7194:Krt28 UTSW 11 99,265,230 (GRCm39) nonsense probably null
R7863:Krt28 UTSW 11 99,255,999 (GRCm39) missense possibly damaging 0.65
R7986:Krt28 UTSW 11 99,257,651 (GRCm39) missense probably benign 0.00
R8415:Krt28 UTSW 11 99,265,626 (GRCm39) missense probably benign
R9710:Krt28 UTSW 11 99,255,921 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAGTTTCAAGTTTGCGATTTACC -3'
(R):5'- ATACAGTCCGGATCCCTCAG -3'

Sequencing Primer
(F):5'- GCGATTTACCTTGCTTTTCAGG -3'
(R):5'- CAGGCTTTGCTGGGAGC -3'
Posted On 2015-06-12