Incidental Mutation 'R6847:Krt80'
ID 534830
Institutional Source Beutler Lab
Gene Symbol Krt80
Ensembl Gene ENSMUSG00000037185
Gene Name keratin 80
Synonyms 2310041I20Rik, Kb20, 1200016G03Rik
MMRRC Submission 045021-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6847 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 101246196-101268043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101256610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 195 (E195G)
Ref Sequence ENSEMBL: ENSMUSP00000076437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077196] [ENSMUST00000230831] [ENSMUST00000230909]
AlphaFold Q0VBK2
Predicted Effect probably benign
Transcript: ENSMUST00000077196
AA Change: E195G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000076437
Gene: ENSMUSG00000037185
AA Change: E195G

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 probably benign
Transcript: ENSMUST00000230831
Predicted Effect probably benign
Transcript: ENSMUST00000230909
AA Change: E142G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (50/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,021,465 (GRCm39) I675T probably benign Het
Adgrb3 A T 1: 25,133,003 (GRCm39) M1121K probably benign Het
Ak9 A G 10: 41,233,797 (GRCm39) probably null Het
Akr1c6 T A 13: 4,488,497 (GRCm39) C34* probably null Het
Akt3 G A 1: 176,859,225 (GRCm39) P449S probably damaging Het
Atg2b A T 12: 105,602,047 (GRCm39) V1643E probably damaging Het
Atp2c1 T C 9: 105,295,778 (GRCm39) I819V probably damaging Het
Casp3 C T 8: 47,089,301 (GRCm39) A183V probably benign Het
Cdk1 A T 10: 69,174,358 (GRCm39) D288E probably benign Het
Cep131 G A 11: 119,956,517 (GRCm39) R944W probably damaging Het
Cep290 A G 10: 100,399,281 (GRCm39) K2268E probably damaging Het
Crybg2 A G 4: 133,792,857 (GRCm39) E164G probably benign Het
Cubn A C 2: 13,449,064 (GRCm39) probably null Het
Dnajc14 A T 10: 128,652,656 (GRCm39) E571D possibly damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eef1b2 A G 1: 63,217,648 (GRCm39) E44G probably benign Het
Eml6 C T 11: 29,768,447 (GRCm39) V747I probably benign Het
Ext1 T G 15: 53,208,550 (GRCm39) Q70H probably benign Het
Gbp2b T A 3: 142,303,940 (GRCm39) C12S probably damaging Het
Gbp8 A C 5: 105,179,093 (GRCm39) D135E probably benign Het
Gm12886 A T 4: 121,273,916 (GRCm39) L100* probably null Het
Gpatch1 A T 7: 34,992,983 (GRCm39) probably null Het
Ifit3b A T 19: 34,588,925 (GRCm39) M34L probably benign Het
Il12a G T 3: 68,602,899 (GRCm39) D160Y probably damaging Het
Klhl2 A G 8: 65,212,816 (GRCm39) L241P probably damaging Het
Lgi1 T C 19: 38,289,738 (GRCm39) V268A probably damaging Het
Lrrfip1 A T 1: 91,032,850 (GRCm39) D216V probably damaging Het
Meis3 A G 7: 15,917,789 (GRCm39) N314S probably damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myh15 A T 16: 48,965,451 (GRCm39) I1119F possibly damaging Het
Nav2 A T 7: 49,141,204 (GRCm39) Q916H probably benign Het
Ncam2 A T 16: 81,229,606 (GRCm39) Q22L probably damaging Het
Or5b118 A T 19: 13,448,402 (GRCm39) I23F probably benign Het
P2rx4 G A 5: 122,865,814 (GRCm39) V329M probably damaging Het
Peg10 A G 6: 4,754,279 (GRCm39) probably benign Het
Pgp T C 17: 24,690,375 (GRCm39) L267P probably damaging Het
Pou2af2 G A 9: 51,201,504 (GRCm39) T184M probably damaging Het
Prdm2 A C 4: 142,859,520 (GRCm39) S1257A probably benign Het
Prr12 T C 7: 44,695,164 (GRCm39) N1434S unknown Het
Psmc3ip A T 11: 100,985,999 (GRCm39) H40Q probably damaging Het
Ptprc A T 1: 138,016,283 (GRCm39) N526K probably damaging Het
Sec63 T A 10: 42,667,249 (GRCm39) D138E probably damaging Het
Serpinb13 A G 1: 106,926,663 (GRCm39) N220D probably benign Het
Siva1 G A 12: 112,611,344 (GRCm39) probably benign Het
Slc39a12 A G 2: 14,454,728 (GRCm39) H546R probably damaging Het
Slc7a1 G A 5: 148,271,468 (GRCm39) A497V probably benign Het
Smg5 G T 3: 88,249,859 (GRCm39) K95N probably damaging Het
Speer1a G A 5: 11,394,134 (GRCm39) V78M probably damaging Het
Traj50 T A 14: 54,405,101 (GRCm39) probably benign Het
Ubr3 T C 2: 69,813,472 (GRCm39) V1261A probably damaging Het
Zc3h11a A T 1: 133,566,700 (GRCm39) probably null 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
R5783:Krt80 UTSW 15 101,257,360 (GRCm39) critical splice donor site probably null
R5927:Krt80 UTSW 15 101,262,089 (GRCm39) critical splice donor site probably benign
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'- TTGATACCCAGAGAGCACTTG -3'
(R):5'- TTGTCACCAGCATCATCCAC -3'

Sequencing Primer
(F):5'- AGCACTTGGGAAGCTGTG -3'
(R):5'- AACCCTCAGGCACATGGG -3'
Posted On 2018-09-12