Incidental Mutation 'R5783:Krt80'
ID 447884
Institutional Source Beutler Lab
Gene Symbol Krt80
Ensembl Gene ENSMUSG00000037185
Gene Name keratin 80
Synonyms 2310041I20Rik, Kb20, 1200016G03Rik
MMRRC Submission 043380-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5783 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101246196-101268043 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 101257360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077196] [ENSMUST00000230831] [ENSMUST00000230909]
AlphaFold Q0VBK2
Predicted Effect probably null
Transcript: ENSMUST00000077196
SMART Domains Protein: ENSMUSP00000076437
Gene: ENSMUSG00000037185

DomainStartEndE-ValueType
Pfam:Keratin_2_head 2 79 2.5e-12 PFAM
Filament 82 393 2.18e-113 SMART
low complexity region 419 430 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230107
Predicted Effect probably null
Transcript: ENSMUST00000230831
Predicted Effect probably null
Transcript: ENSMUST00000230909
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene's expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,468,787 (GRCm39) Y48F probably damaging Het
Apob A G 12: 8,051,022 (GRCm39) D1082G probably damaging Het
Cald1 G A 6: 34,730,468 (GRCm39) A236T possibly damaging Het
Ccdc88b A C 19: 6,831,284 (GRCm39) C553G probably benign Het
Cenpe A G 3: 134,967,341 (GRCm39) D2161G probably benign Het
Cep78 G T 19: 15,933,723 (GRCm39) N618K probably benign Het
Chka A G 19: 3,914,661 (GRCm39) N118D probably damaging Het
Dennd5a A C 7: 109,493,843 (GRCm39) I1263S probably damaging Het
Dnaaf9 A C 2: 130,581,003 (GRCm39) F582L possibly damaging Het
Dnm3 T C 1: 162,183,040 (GRCm39) T92A possibly damaging Het
Dpp9 T C 17: 56,518,655 (GRCm39) K50E probably damaging Het
Fen1 G T 19: 10,178,194 (GRCm39) Y83* probably null Het
Gm1110 A G 9: 26,793,632 (GRCm39) I532T probably benign Het
H2bc21 T C 3: 96,128,615 (GRCm39) V45A possibly damaging Het
Impdh1 A T 6: 29,206,342 (GRCm39) F140Y possibly damaging Het
Kcnc4 T C 3: 107,355,188 (GRCm39) D420G possibly damaging Het
Kctd19 A G 8: 106,113,612 (GRCm39) V664A probably benign Het
Lars2 T G 9: 123,290,661 (GRCm39) M876R probably benign Het
Lrrc9 A G 12: 72,502,827 (GRCm39) E266G possibly damaging Het
Mesd T A 7: 83,544,883 (GRCm39) V120E probably damaging Het
Mogs C T 6: 83,095,652 (GRCm39) T823I probably damaging Het
Mrgprh C A 17: 13,096,333 (GRCm39) T191N probably benign Het
Mtss1 C T 15: 58,815,373 (GRCm39) S729N probably benign Het
Muc5b G T 7: 141,412,165 (GRCm39) E1704* probably null Het
Or2ag13 C A 7: 106,472,541 (GRCm39) V304F probably damaging Het
Or51m1 A T 7: 103,578,149 (GRCm39) I40F probably damaging Het
Or8k30 T C 2: 86,338,982 (GRCm39) Y60H probably damaging Het
Osbpl8 T A 10: 111,103,644 (GRCm39) L216* probably null Het
Pcdha5 T C 18: 37,095,534 (GRCm39) V681A probably benign Het
Pgap3 A C 11: 98,281,290 (GRCm39) V190G probably benign Het
Ppp2r5a A T 1: 191,086,837 (GRCm39) Y373N probably damaging Het
Prkdc T C 16: 15,535,665 (GRCm39) L1675P probably damaging Het
Rapgef2 T G 3: 78,995,300 (GRCm39) I635L probably benign Het
Rusc1 T C 3: 88,995,452 (GRCm39) D193G probably damaging Het
Ryr3 C T 2: 112,483,343 (GRCm39) V4140I probably benign Het
Scamp5 A G 9: 57,353,353 (GRCm39) probably null Het
Shoc1 A T 4: 59,076,239 (GRCm39) L568* probably null Het
Slc41a3 T C 6: 90,596,524 (GRCm39) I31T probably benign Het
Smad9 T C 3: 54,701,863 (GRCm39) V368A probably benign Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
St8sia1 T C 6: 142,909,340 (GRCm39) N52S possibly damaging Het
Svop T G 5: 114,202,996 (GRCm39) D72A possibly damaging Het
Sybu T C 15: 44,609,810 (GRCm39) I153V probably damaging Het
Tmem266 G T 9: 55,305,087 (GRCm39) S32I probably damaging Het
Trpm4 G T 7: 44,959,813 (GRCm39) R694S probably benign Het
Uqcrfs1 A G 13: 30,729,187 (GRCm39) L15P probably damaging Het
Vrtn T A 12: 84,697,251 (GRCm39) L667Q probably benign Het
Zc3h14 T A 12: 98,723,434 (GRCm39) S241R probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp617 C A 8: 72,686,308 (GRCm39) H213N probably damaging Het
Zfp638 G A 6: 83,921,829 (GRCm39) G652D possibly damaging Het
Zmiz2 T C 11: 6,355,081 (GRCm39) L916P probably damaging Het
Other mutations in Krt80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Krt80 APN 15 101,247,879 (GRCm39) missense possibly damaging 0.64
IGL03184:Krt80 APN 15 101,250,135 (GRCm39) missense probably damaging 1.00
1mM(1):Krt80 UTSW 15 101,262,089 (GRCm39) critical splice donor site probably null
R0394:Krt80 UTSW 15 101,250,180 (GRCm39) missense probably damaging 0.97
R0520:Krt80 UTSW 15 101,267,898 (GRCm39) missense probably benign 0.00
R1654:Krt80 UTSW 15 101,249,590 (GRCm39) missense probably damaging 0.96
R2436:Krt80 UTSW 15 101,257,384 (GRCm39) missense probably damaging 0.98
R4326:Krt80 UTSW 15 101,250,189 (GRCm39) missense possibly damaging 0.52
R5292:Krt80 UTSW 15 101,250,066 (GRCm39) missense probably damaging 1.00
R5927:Krt80 UTSW 15 101,262,089 (GRCm39) critical splice donor site probably benign
R6847:Krt80 UTSW 15 101,256,610 (GRCm39) missense probably benign 0.03
R8218:Krt80 UTSW 15 101,267,884 (GRCm39) missense probably benign
R9295:Krt80 UTSW 15 101,249,652 (GRCm39) missense probably benign 0.00
R9376:Krt80 UTSW 15 101,247,978 (GRCm39) missense unknown
R9686:Krt80 UTSW 15 101,262,281 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGTCATGATGGAGGATCA -3'
(R):5'- GCTACCTTCTCTAATCATCACAAAGC -3'

Sequencing Primer
(F):5'- TCATGATGGAGAGAGGGTCATGATG -3'
(R):5'- GCACAAAGATCTAACAGAGACCTGG -3'
Posted On 2016-12-15