Incidental Mutation 'IGL02505:Krt77'
ID296282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt77
Ensembl Gene ENSMUSG00000067594
Gene Namekeratin 77
Synonyms4732484G22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02505
Quality Score
Status
Chromosome15
Chromosomal Location101858731-101869705 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101860946 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 460 (L460P)
Ref Sequence ENSEMBL: ENSMUSP00000085311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087996]
Predicted Effect probably damaging
Transcript: ENSMUST00000087996
AA Change: L460P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085311
Gene: ENSMUSG00000067594
AA Change: L460P

DomainStartEndE-ValueType
Pfam:Keratin_2_head 4 163 1.5e-46 PFAM
Filament 166 479 6.11e-149 SMART
low complexity region 485 497 N/A INTRINSIC
low complexity region 500 543 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229995
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 encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,616,814 L68M probably damaging Het
Abca13 T G 11: 9,581,498 L4575W probably damaging Het
Abcb11 A T 2: 69,245,761 V1201D probably damaging Het
Aldoa G T 7: 126,795,994 A252E probably damaging Het
Ap1b1 C T 11: 5,031,700 A536V probably benign Het
Arhgef3 A G 14: 27,394,000 H233R possibly damaging Het
Arhgef40 A T 14: 52,000,863 E1266D probably damaging Het
Atp1a4 C T 1: 172,235,075 V622M probably damaging Het
Aup1 A G 6: 83,055,277 T142A probably benign Het
Bcl6 A T 16: 23,977,569 I36N probably damaging Het
Best1 A G 19: 9,989,150 S358P probably damaging Het
Cadps T G 14: 12,449,759 Q1150P probably damaging Het
Capn5 T A 7: 98,131,196 E322D possibly damaging Het
Ccdc94 G T 17: 55,962,051 G53V probably damaging Het
Cd300ld2 A T 11: 115,013,687 M118K probably benign Het
Cdh9 T C 15: 16,855,989 L705P probably damaging Het
Cep170b T G 12: 112,743,070 N436K probably damaging Het
Chil6 T A 3: 106,405,962 I24F probably benign Het
Chmp2a T A 7: 13,033,855 K48* probably null Het
Col19a1 C T 1: 24,300,584 probably benign Het
Cops7b C A 1: 86,592,321 Q65K probably benign Het
Cyp2e1 T A 7: 140,769,156 L133H probably damaging Het
Dirc2 G T 16: 35,735,558 D177E probably benign Het
Dkc1 T C X: 75,108,733 probably benign Het
Erlec1 A G 11: 30,950,767 Y134H probably damaging Het
F8 C A X: 75,379,598 probably benign Het
Fus G A 7: 127,981,507 R252Q possibly damaging Het
Fzd3 A T 14: 65,253,106 D9E probably benign Het
Gm15821 T C 17: 34,214,285 probably benign Het
Gm5117 C A 8: 31,738,316 noncoding transcript Het
H2afy A G 13: 56,074,330 V336A probably damaging Het
H2-Q6 A G 17: 35,425,176 I45V probably benign Het
Hectd1 A G 12: 51,800,713 probably null Het
Ifi204 T C 1: 173,755,654 K333E probably benign Het
Ildr1 G A 16: 36,716,164 G185D probably damaging Het
Itgb2 G A 10: 77,547,218 D141N probably damaging Het
Kdm1b G T 13: 47,060,855 D226Y probably damaging Het
Lamp3 A G 16: 19,655,457 I389T possibly damaging Het
Mars C A 10: 127,304,244 E414* probably null Het
Mpg T C 11: 32,230,042 V190A probably damaging Het
Myh15 A G 16: 49,117,263 I742M possibly damaging Het
Nell2 A T 15: 95,296,263 probably benign Het
Nmur1 T C 1: 86,386,335 D370G probably benign Het
Npsr1 A G 9: 24,098,282 E28G probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr679 A T 7: 105,086,333 I206L probably benign Het
Olfr8 G T 10: 78,955,933 V243F probably benign Het
Olfr876 G A 9: 37,804,331 C140Y probably benign Het
Pdzrn3 T C 6: 101,151,938 N589S possibly damaging Het
Pkd1l3 T C 8: 109,633,216 L901P probably damaging Het
Plekhg1 G T 10: 3,957,139 K685N probably damaging Het
Prim1 T A 10: 128,029,783 *419R probably null Het
Ptk2b G T 14: 66,154,243 N905K probably damaging Het
Rbm34 T C 8: 126,949,321 I395V probably benign Het
Rfx1 A G 8: 84,095,809 E912G possibly damaging Het
Rngtt T C 4: 33,337,936 V253A possibly damaging Het
Slc2a9 A G 5: 38,436,659 Y169H possibly damaging Het
Susd4 C A 1: 182,892,080 T420K probably benign Het
Tdrd3 G A 14: 87,511,682 G676D probably damaging Het
Tec T C 5: 72,789,244 K47E probably damaging Het
Tenm2 C A 11: 36,051,916 G1308* probably null Het
Tmprss15 A T 16: 78,987,741 D675E probably benign Het
Vmn1r84 A G 7: 12,362,419 C104R probably damaging Het
Vmn2r49 T A 7: 9,976,451 M785L probably benign Het
Vmn2r85 G T 10: 130,425,580 T296K probably damaging Het
Wdr3 C T 3: 100,151,974 S343N probably benign Het
Zfp143 A T 7: 110,091,786 M515L possibly damaging Het
Zfp735 A G 11: 73,689,800 I42V probably benign Het
Zswim5 A T 4: 116,962,552 M385L probably benign Het
Other mutations in Krt77
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Krt77 APN 15 101860880 splice site probably benign
IGL01912:Krt77 APN 15 101863851 splice site probably benign
IGL02875:Krt77 APN 15 101869149 missense probably damaging 1.00
R0266:Krt77 UTSW 15 101869378 missense possibly damaging 0.71
R0347:Krt77 UTSW 15 101859869 missense unknown
R0762:Krt77 UTSW 15 101861126 intron probably null
R1528:Krt77 UTSW 15 101861088 missense probably damaging 1.00
R1556:Krt77 UTSW 15 101861278 missense probably damaging 0.96
R1973:Krt77 UTSW 15 101861244 missense probably damaging 1.00
R4434:Krt77 UTSW 15 101865469 missense probably damaging 1.00
R4436:Krt77 UTSW 15 101865469 missense probably damaging 1.00
R4946:Krt77 UTSW 15 101869563 missense unknown
R5405:Krt77 UTSW 15 101861088 missense probably damaging 0.96
R5507:Krt77 UTSW 15 101861230 missense probably benign 0.03
R5888:Krt77 UTSW 15 101865453 missense probably benign 0.29
R5978:Krt77 UTSW 15 101862928 missense probably benign 0.07
R5994:Krt77 UTSW 15 101862855 missense probably damaging 1.00
R6039:Krt77 UTSW 15 101860916 missense possibly damaging 0.85
R6039:Krt77 UTSW 15 101860916 missense possibly damaging 0.85
R6241:Krt77 UTSW 15 101865553 missense probably damaging 1.00
R6260:Krt77 UTSW 15 101864372 nonsense probably null
R6280:Krt77 UTSW 15 101865475 missense probably damaging 1.00
R6500:Krt77 UTSW 15 101864337 missense probably damaging 0.99
R6563:Krt77 UTSW 15 101862923 missense probably damaging 1.00
R7153:Krt77 UTSW 15 101865496 missense probably benign 0.18
R7156:Krt77 UTSW 15 101865496 missense probably benign 0.18
R7205:Krt77 UTSW 15 101869371 missense probably benign 0.00
R7379:Krt77 UTSW 15 101861274 missense probably damaging 1.00
R7407:Krt77 UTSW 15 101860095 missense unknown
Posted On2015-04-16