Incidental Mutation 'R0520:Krt80'
ID48484
Institutional Source Beutler Lab
Gene Symbol Krt80
Ensembl Gene ENSMUSG00000037185
Gene Namekeratin 80
Synonyms1200016G03Rik, 2310041I20Rik, Kb20
MMRRC Submission 038713-MU
Accession Numbers

Genbank: NM_028770.2; Ensembl: ENSMUST00000077196

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0520 (G1)
Quality Score156
Status Validated
Chromosome15
Chromosomal Location101347444-101370162 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101370017 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 13 (L13P)
Ref Sequence ENSEMBL: ENSMUSP00000076437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077196] [ENSMUST00000230831]
Predicted Effect probably benign
Transcript: ENSMUST00000077196
AA Change: L13P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000076437
Gene: ENSMUSG00000037185
AA Change: L13P

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: ENSMUST00000157834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230107
Predicted Effect probably benign
Transcript: ENSMUST00000230831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230887
Meta Mutation Damage Score 0.0811 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (72/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010005H15Rik A G 16: 36,253,091 I16V probably benign Het
Acod1 T C 14: 103,051,516 I154T possibly damaging Het
Acr G T 15: 89,573,227 C226F probably damaging Het
Aff1 C T 5: 103,847,751 R1070* probably null Het
Aldh9a1 C T 1: 167,361,391 probably benign Het
Apaf1 A T 10: 91,079,989 H12Q probably damaging Het
Asic1 A T 15: 99,695,535 I291F probably damaging Het
Aspm T A 1: 139,478,820 M1815K possibly damaging Het
Asxl3 A T 18: 22,522,986 D1351V probably damaging Het
Atg9a C T 1: 75,186,534 W299* probably null Het
B3gntl1 C A 11: 121,623,488 V313F possibly damaging Het
B4galnt4 T A 7: 141,067,373 C345* probably null Het
Bicc1 A T 10: 70,957,190 F211L probably damaging Het
Cachd1 T G 4: 100,897,703 V117G probably damaging Het
Cdc16 G A 8: 13,760,569 probably null Het
Cers6 C T 2: 69,105,091 Q312* probably null Het
Dclre1c A G 2: 3,436,475 H115R probably damaging Het
Ddx20 T C 3: 105,687,376 T18A probably benign Het
Dhx57 A G 17: 80,258,175 V816A possibly damaging Het
Dlgap1 C T 17: 70,516,994 Q325* probably null Het
Dnaja1 A T 4: 40,728,072 M178L probably benign Het
Ecd A T 14: 20,328,664 S454T probably benign Het
Efcab6 G A 15: 83,950,046 H454Y probably benign Het
Exo1 T A 1: 175,899,465 D447E probably benign Het
F5 T G 1: 164,209,587 I1965S probably benign Het
Fbn2 A G 18: 58,013,749 C2692R probably damaging Het
Fggy T A 4: 95,601,103 L152Q probably damaging Het
Glb1 ACCC ACC 9: 114,421,744 probably null Het
Gm9871 A G 6: 101,801,579 noncoding transcript Het
Gnai2 A T 9: 107,620,173 D7E probably benign Het
Gon7 C T 12: 102,757,788 probably benign Het
H2-K1 A T 17: 33,997,416 V272E probably damaging Het
Hectd4 G T 5: 121,331,707 R2555L possibly damaging Het
Hexb T C 13: 97,181,110 R360G probably benign Het
Igsf9b C A 9: 27,323,250 S470R probably benign Het
Inpp5d T C 1: 87,705,920 probably benign Het
Inpp5k C A 11: 75,639,530 Y265* probably null Het
Klhl33 T G 14: 50,891,683 E436D probably damaging Het
Krtap19-2 C T 16: 88,873,861 probably benign Het
March10 T C 11: 105,389,882 T526A probably benign Het
Mcrs1 A G 15: 99,248,455 probably null Het
Msh2 G T 17: 87,717,544 V617F possibly damaging Het
Nckap1 A C 2: 80,541,530 probably benign Het
Nek4 T A 14: 30,959,306 probably benign Het
Olfr1054 G T 2: 86,333,131 T75K probably damaging Het
Olfr1410 T A 1: 92,608,749 V304E probably damaging Het
Olfr871 G A 9: 20,212,495 V49I probably benign Het
Olfr875 T C 9: 37,773,553 V298A probably benign Het
Osgin1 A G 8: 119,442,508 H48R probably damaging Het
Pam T A 1: 97,884,195 T369S probably benign Het
Pclo C T 5: 14,713,830 Q821* probably null Het
Plekhm1 T C 11: 103,394,944 I222V probably benign Het
Ptprg T G 14: 12,199,783 N65K possibly damaging Het
Pum2 T A 12: 8,721,710 V351E probably damaging Het
Slc25a54 T A 3: 109,107,230 probably benign Het
Smchd1 A T 17: 71,429,543 D587E possibly damaging Het
Stap1 A G 5: 86,090,964 M164V probably benign Het
Stat5a T C 11: 100,861,426 V30A probably damaging Het
Stk36 T G 1: 74,602,206 probably benign Het
Tiam1 G T 16: 89,817,951 probably benign Het
Tmc5 T C 7: 118,666,576 M553T probably damaging Het
Tmem14a T A 1: 21,229,412 Y89N possibly damaging Het
Tpp2 A G 1: 43,990,530 Y991C probably damaging Het
Ttc7 A G 17: 87,359,151 K615E possibly damaging Het
Ubac2 C T 14: 121,994,342 P227S probably damaging Het
Vit A C 17: 78,625,159 K565T probably damaging Het
Vps13c T C 9: 67,945,851 F2409L possibly damaging Het
Wdr64 A G 1: 175,726,392 T173A probably damaging Het
Zfp759 T C 13: 67,137,355 I60T probably benign Het
Zfp81 A G 17: 33,334,377 S488P probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,476,364 probably benign Het
Other mutations in Krt80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Krt80 APN 15 101349998 missense possibly damaging 0.64
IGL03184:Krt80 APN 15 101352254 missense probably damaging 1.00
1mM(1):Krt80 UTSW 15 101364208 critical splice donor site probably null
R0394:Krt80 UTSW 15 101352299 missense probably damaging 0.97
R1654:Krt80 UTSW 15 101351709 missense probably damaging 0.96
R2436:Krt80 UTSW 15 101359503 missense probably damaging 0.98
R4326:Krt80 UTSW 15 101352308 missense possibly damaging 0.52
R5292:Krt80 UTSW 15 101352185 missense probably damaging 1.00
R5783:Krt80 UTSW 15 101359479 critical splice donor site probably null
R5927:Krt80 UTSW 15 101364208 critical splice donor site probably benign
R6847:Krt80 UTSW 15 101358729 missense probably benign 0.03
R8218:Krt80 UTSW 15 101370003 missense probably benign
Predicted Primers PCR Primer
(F):5'- CCACTTAGCTCACCTTGCCAATCAG -3'
(R):5'- GCGGGAGCCACATCATCTAACTAAC -3'

Sequencing Primer
(F):5'- CCAATCAGGGAGGCAAATTTATC -3'
(R):5'- CTCCTGTAGCTAATGAACACTATGC -3'
Posted On2013-06-12