Incidental Mutation 'R7194:Krt28'
ID 559806
Institutional Source Beutler Lab
Gene Symbol Krt28
Ensembl Gene ENSMUSG00000055937
Gene Name keratin 28
Synonyms 4733401L19Rik
MMRRC Submission 045335-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R7194 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 99255698-99265729 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 99265230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 146 (K146*)
Ref Sequence ENSEMBL: ENSMUSP00000006963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006963]
AlphaFold A6BLY7
Predicted Effect probably null
Transcript: ENSMUST00000006963
AA Change: K146*
SMART Domains Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: K146*

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
Filament 83 398 4.6e-144 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A G 8: 60,979,656 (GRCm39) I173V probably benign Het
Abi3bp C T 16: 56,382,734 (GRCm39) R115C probably damaging Het
Adam18 A G 8: 25,141,868 (GRCm39) S234P possibly damaging Het
Adam20 A G 8: 41,249,449 (GRCm39) R520G probably benign Het
Angel2 C G 1: 190,677,194 (GRCm39) T514R probably damaging Het
Ankar A T 1: 72,698,192 (GRCm39) I954N probably benign Het
Ankrd7 A T 6: 18,879,342 (GRCm39) Y262F probably benign Het
Ano8 C A 8: 71,935,007 (GRCm39) L398F possibly damaging Het
App C T 16: 84,822,319 (GRCm39) V356I probably benign Het
Atp1a2 C A 1: 172,108,194 (GRCm39) E636* probably null Het
Cckbr G A 7: 105,084,552 (GRCm39) E429K possibly damaging Het
Cfi T G 3: 129,648,708 (GRCm39) S197R probably damaging Het
Chn2 A G 6: 54,263,162 (GRCm39) probably null Het
Col3a1 C A 1: 45,370,860 (GRCm39) A405D unknown Het
Colec12 A T 18: 9,848,248 (GRCm39) N142I probably benign Het
Copa T C 1: 171,947,511 (GRCm39) L1109P probably damaging Het
Cpeb3 T A 19: 37,152,152 (GRCm39) M75L probably benign Het
Cyp2d11 T C 15: 82,275,969 (GRCm39) Y204C probably benign Het
Defa17 A G 8: 22,146,613 (GRCm39) T80A probably benign Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dppa5a C T 9: 78,275,002 (GRCm39) probably null Het
Fat4 G T 3: 38,943,033 (GRCm39) S642I probably damaging Het
Fat4 T A 3: 39,038,044 (GRCm39) C3899S probably damaging Het
Fn1 A G 1: 71,641,482 (GRCm39) V1869A probably damaging Het
Gm10308 A T 17: 91,396,389 (GRCm39) I104L unknown Het
Gpr139 C T 7: 118,743,896 (GRCm39) A230T possibly damaging Het
Grm8 T C 6: 27,618,486 (GRCm39) N452S probably benign Het
Hmox1 T C 8: 75,823,551 (GRCm39) V73A probably benign Het
Hspa4 A G 11: 53,156,765 (GRCm39) F641L probably damaging Het
Ifi207 T G 1: 173,557,490 (GRCm39) H416P possibly damaging Het
Igkv10-96 G T 6: 68,609,028 (GRCm39) T89K possibly damaging Het
Kmt2d A C 15: 98,741,714 (GRCm39) V4482G unknown Het
Krt82 T C 15: 101,451,191 (GRCm39) N406S probably damaging Het
Marveld3 A T 8: 110,686,477 (GRCm39) probably null Het
Mllt6 C T 11: 97,564,394 (GRCm39) S370L probably benign Het
Muc16 A G 9: 18,585,750 (GRCm39) L26S unknown Het
Mup12 T A 4: 60,696,734 (GRCm39) E48V probably benign Het
Myh1 G A 11: 67,102,183 (GRCm39) V825I probably benign Het
Nipal3 G A 4: 135,201,732 (GRCm39) T152I probably benign Het
Nrg3 A T 14: 39,194,435 (GRCm39) M108K probably benign Het
Nup50l T G 6: 96,141,756 (GRCm39) E429D probably benign Het
Oog3 A T 4: 143,889,169 (GRCm39) I3N probably damaging Het
Or10d4c G A 9: 39,558,387 (GRCm39) V122I probably benign Het
Pira13 A G 7: 3,827,792 (GRCm39) W122R Het
Pkhd1l1 T C 15: 44,392,512 (GRCm39) C1616R probably damaging Het
Ppa2 T A 3: 133,053,953 (GRCm39) probably null Het
Ppfibp2 T A 7: 107,322,187 (GRCm39) probably null Het
Ppp4c T C 7: 126,385,653 (GRCm39) N229D probably damaging Het
Ptpn9 T C 9: 56,929,570 (GRCm39) F96L probably damaging Het
Pygl A G 12: 70,241,094 (GRCm39) V742A probably benign Het
Ranbp2 A G 10: 58,312,591 (GRCm39) T1104A probably benign Het
Rasal1 G A 5: 120,813,557 (GRCm39) A644T probably benign Het
Rcor3 T A 1: 191,810,261 (GRCm39) T139S possibly damaging Het
Rfx5 T A 3: 94,862,454 (GRCm39) I37N probably damaging Het
Rnf112 C T 11: 61,341,683 (GRCm39) G374R probably damaging Het
Rrp12 T C 19: 41,859,979 (GRCm39) I1034V probably benign Het
Sacs T A 14: 61,447,538 (GRCm39) Y3195N possibly damaging Het
Scn4a A G 11: 106,215,062 (GRCm39) I1243T probably benign Het
Sirt7 A T 11: 120,509,799 (GRCm39) C362S probably benign Het
Slc17a6 T A 7: 51,276,640 (GRCm39) S130T probably damaging Het
Snrnp48 A C 13: 38,393,875 (GRCm39) Y60S probably damaging Het
Syne1 T C 10: 5,060,859 (GRCm39) E7260G probably damaging Het
Trbv15 C T 6: 41,118,529 (GRCm39) T95I probably benign Het
Trip12 A T 1: 84,771,943 (GRCm39) N68K probably benign Het
Ugcg A G 4: 59,213,210 (GRCm39) Y132C probably damaging Het
Usp9y A T Y: 1,304,672 (GRCm39) C2391S probably damaging Het
Vmn1r103 C A 7: 20,244,438 (GRCm39) V8L probably benign Het
Vmn2r15 T A 5: 109,440,649 (GRCm39) N403I probably damaging Het
Zbtb11 T C 16: 55,827,551 (GRCm39) S1006P 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
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
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
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'- CTCAAAATAGACAGTGGGATTCAC -3'
(R):5'- TCCTCTCTGGAAACGAGAAGGTC -3'

Sequencing Primer
(F):5'- CATTGAAAGTATTGAACCAAGGCTCC -3'
(R):5'- GGTCACCATGCAGAATCTTAAC -3'
Posted On 2019-06-26