Incidental Mutation 'R1488:Krt28'
ID 165512
Institutional Source Beutler Lab
Gene Symbol Krt28
Ensembl Gene ENSMUSG00000055937
Gene Name keratin 28
Synonyms 4733401L19Rik
MMRRC Submission 039540-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R1488 (G1)
Quality Score 158
Status Validated
Chromosome 11
Chromosomal Location 99255698-99265729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99255997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 421 (T421A)
Ref Sequence ENSEMBL: ENSMUSP00000006963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006963]
AlphaFold A6BLY7
Predicted Effect probably benign
Transcript: ENSMUST00000006963
AA Change: T421A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: T421A

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
Filament 83 398 4.6e-144 SMART
Meta Mutation Damage Score 0.1140 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.3%
Validation Efficiency 100% (53/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l2 A G 6: 48,910,381 (GRCm39) N691S possibly damaging Het
Arhgap23 A G 11: 97,391,685 (GRCm39) S1401G possibly damaging Het
Art2b A C 7: 101,229,414 (GRCm39) F162V probably damaging Het
Atg4c T A 4: 99,109,479 (GRCm39) W149R probably damaging Het
Atxn1l A G 8: 110,460,049 (GRCm39) I71T probably benign Het
Axdnd1 T A 1: 156,176,530 (GRCm39) L748F probably damaging Het
Bdh2 A G 3: 135,002,602 (GRCm39) Y157C probably damaging Het
C2cd4a G T 9: 67,738,990 (GRCm39) R18S probably benign Het
Catsperb A G 12: 101,560,526 (GRCm39) H839R probably damaging Het
Ccdc24 C A 4: 117,727,765 (GRCm39) S134I possibly damaging Het
Cd55 G T 1: 130,376,115 (GRCm39) T70K probably damaging Het
Cdh10 A T 15: 19,013,349 (GRCm39) I650F probably damaging Het
Clca3a2 T A 3: 144,789,925 (GRCm39) K470N possibly damaging Het
Csn2 G A 5: 87,842,755 (GRCm39) Q91* probably null Het
Ctsh G A 9: 89,953,944 (GRCm39) D218N possibly damaging Het
Cyb5r4 C G 9: 86,911,591 (GRCm39) Y88* probably null Het
Dgkq A G 5: 108,798,743 (GRCm39) F601S probably damaging Het
Eci2 A G 13: 35,161,916 (GRCm39) V352A probably benign Het
Lamp5 T C 2: 135,911,011 (GRCm39) V248A probably benign Het
Lin9 T A 1: 180,515,850 (GRCm39) L483Q possibly damaging Het
Lrp1b C A 2: 41,392,036 (GRCm39) M509I probably benign Het
Lrrfip1 T C 1: 91,042,354 (GRCm39) V253A probably damaging Het
Mpdz C A 4: 81,266,945 (GRCm39) E981* probably null Het
Mpo A C 11: 87,688,256 (GRCm39) N305T probably damaging Het
Or2y1 A G 11: 49,385,945 (GRCm39) E195G probably benign Het
Or51a24 T C 7: 103,733,859 (GRCm39) I143V probably benign Het
Or5p79 A T 7: 108,221,696 (GRCm39) I226F probably damaging Het
Papss2 T C 19: 32,614,490 (GRCm39) S69P probably benign Het
Pcdhb22 A G 18: 37,652,941 (GRCm39) T470A possibly damaging Het
Plce1 A G 19: 38,705,247 (GRCm39) D884G possibly damaging Het
Prex2 T A 1: 11,263,752 (GRCm39) I1239K probably benign Het
Prkd2 T A 7: 16,592,364 (GRCm39) F625I probably damaging Het
Rab20 A T 8: 11,504,268 (GRCm39) V144E probably benign Het
Rnf213 A G 11: 119,371,715 (GRCm39) N4840S probably benign Het
Scaf8 T G 17: 3,247,872 (GRCm39) M1065R probably damaging Het
Slco3a1 A G 7: 73,996,449 (GRCm39) L319P possibly damaging Het
Slit1 A G 19: 41,596,824 (GRCm39) C1092R probably damaging Het
Tlr4 A G 4: 66,757,786 (GRCm39) D193G probably damaging Het
Tmem145 T A 7: 25,006,860 (GRCm39) probably null Het
Tmem184a T A 5: 139,793,395 (GRCm39) K235N probably benign Het
Tnpo1 A T 13: 98,993,415 (GRCm39) D590E probably damaging Het
Trio C A 15: 27,741,053 (GRCm39) G2724V probably damaging Het
Ttc6 A T 12: 57,696,301 (GRCm39) Y34F possibly damaging Het
Tuba4a T C 1: 75,193,045 (GRCm39) T190A probably benign Het
Tubgcp4 T G 2: 121,007,031 (GRCm39) V136G possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn1r74 T C 7: 11,581,510 (GRCm39) I270T probably benign Het
Vmn2r103 A T 17: 20,013,922 (GRCm39) E238V probably damaging Het
Vmn2r60 T A 7: 41,786,137 (GRCm39) F313L probably benign Het
Zfp710 T C 7: 79,731,752 (GRCm39) Y310H probably damaging 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
R2116:Krt28 UTSW 11 99,255,943 (GRCm39) missense probably benign 0.27
R4244:Krt28 UTSW 11 99,265,376 (GRCm39) missense probably damaging 1.00
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'- GCAAACGGAAGTGTGTTGCCATC -3'
(R):5'- CCAGTTCCTGCTCTGTCTCAAAGG -3'

Sequencing Primer
(F):5'- GAAGAAAGCATTTCCATTCTCCCTG -3'
(R):5'- CAATGGCTCTTACACATGGTAGC -3'
Posted On 2014-03-28