Incidental Mutation 'IGL03184:Krt80'
ID 412406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt80
Ensembl Gene ENSMUSG00000037185
Gene Name keratin 80
Synonyms 2310041I20Rik, Kb20, 1200016G03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03184
Quality Score
Status
Chromosome 15
Chromosomal Location 101246196-101268043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101250135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 37 (V37M)
Ref Sequence ENSEMBL: ENSMUSP00000155526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077196] [ENSMUST00000230831] [ENSMUST00000230909]
AlphaFold Q0VBK2
Predicted Effect probably damaging
Transcript: ENSMUST00000077196
AA Change: V252M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076437
Gene: ENSMUSG00000037185
AA Change: V252M

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: ENSMUST00000229584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230107
Predicted Effect probably damaging
Transcript: ENSMUST00000230831
AA Change: V37M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000230909
AA Change: V199M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,471,570 (GRCm39) Y992H possibly damaging Het
Actmap A G 7: 26,896,432 (GRCm39) probably benign Het
Adcy7 T A 8: 89,035,271 (GRCm39) D58E probably benign Het
Aff2 G A X: 68,810,840 (GRCm39) V404M possibly damaging Het
Ankhd1 T A 18: 36,780,830 (GRCm39) L1961M probably damaging Het
Brms1l T C 12: 55,915,062 (GRCm39) *324Q probably null Het
Bub1b T C 2: 118,440,258 (GRCm39) probably benign Het
Cacna1b A G 2: 24,548,501 (GRCm39) probably null Het
Clrn1 T A 3: 58,753,645 (GRCm39) T239S probably benign Het
Clta T C 4: 44,025,514 (GRCm39) Y145H probably benign Het
Coro6 T C 11: 77,354,779 (GRCm39) V14A probably damaging Het
Cyp4a30b A G 4: 115,316,216 (GRCm39) D314G probably damaging Het
Fn1 T C 1: 71,648,656 (GRCm39) N1418D probably benign Het
Fshr A C 17: 89,354,068 (GRCm39) L97V possibly damaging Het
Gcm2 T C 13: 41,258,888 (GRCm39) Q152R probably damaging Het
Gcnt2 A G 13: 41,041,660 (GRCm39) N273S probably benign Het
Gm11437 A T 11: 84,047,090 (GRCm39) probably benign Het
Gm4559 A G 7: 141,828,046 (GRCm39) S19P unknown Het
Igsf8 T G 1: 172,146,199 (GRCm39) I462R probably damaging Het
Kirrel3 T C 9: 34,919,052 (GRCm39) F243S probably damaging Het
Lama4 T C 10: 38,954,839 (GRCm39) Y1131H probably damaging Het
Mrpl21 T C 19: 3,342,529 (GRCm39) probably benign Het
Mtcl1 T C 17: 66,661,209 (GRCm39) N923S probably benign Het
Nectin2 G A 7: 19,472,231 (GRCm39) P53S possibly damaging Het
Nup98 G A 7: 101,832,752 (GRCm39) T335I probably damaging Het
Or2y1e C A 11: 49,218,568 (GRCm39) T110K probably damaging Het
Or4a74 T C 2: 89,439,912 (GRCm39) D178G probably damaging Het
Or4e5 A G 14: 52,728,380 (GRCm39) S14P probably benign Het
Or51a42 T A 7: 103,708,054 (GRCm39) I252F probably damaging Het
Or6c69c T C 10: 129,910,627 (GRCm39) M116T possibly damaging Het
Pcdhb14 A G 18: 37,582,085 (GRCm39) E397G probably benign Het
Pcgf5 T G 19: 36,412,076 (GRCm39) probably benign Het
Pclo C T 5: 14,764,457 (GRCm39) P1025L probably damaging Het
Pdcd1lg2 C A 19: 29,431,911 (GRCm39) F226L probably benign Het
Pik3ca T A 3: 32,494,035 (GRCm39) S332R probably benign Het
Plek A T 11: 16,931,887 (GRCm39) D321E probably benign Het
Pm20d2 A G 4: 33,179,241 (GRCm39) F333L probably damaging Het
Polk T C 13: 96,620,491 (GRCm39) T570A probably benign Het
Rpgrip1l G A 8: 92,027,437 (GRCm39) L201F probably damaging Het
Serpinb2 T A 1: 107,452,607 (GRCm39) L395H probably damaging Het
Slc9c1 T G 16: 45,368,003 (GRCm39) S197R probably damaging Het
Smg1 T A 7: 117,779,603 (GRCm39) E1264V possibly damaging Het
Sned1 A G 1: 93,202,390 (GRCm39) D678G probably benign Het
Sorcs2 A G 5: 36,188,556 (GRCm39) S851P probably benign Het
Srcap A G 7: 127,129,674 (GRCm39) probably benign Het
Tbck T C 3: 132,441,864 (GRCm39) Y557H probably damaging Het
Tfap2d T C 1: 19,189,110 (GRCm39) S219P probably damaging Het
Trim9 T C 12: 70,297,995 (GRCm39) D570G probably damaging Het
Usp25 A G 16: 76,878,541 (GRCm39) Y655C probably damaging Het
Utrn T A 10: 12,585,910 (GRCm39) T956S probably benign Het
Vmn1r68 T A 7: 10,261,799 (GRCm39) I100F probably benign Het
Vps13a A T 19: 16,631,734 (GRCm39) S2634T probably benign Het
Zfp472 T A 17: 33,196,390 (GRCm39) L155* probably null Het
Zfp808 A G 13: 62,317,381 (GRCm39) I43M possibly damaging Het
Other mutations in Krt80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Krt80 APN 15 101,247,879 (GRCm39) missense possibly damaging 0.64
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
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
Posted On 2016-08-02