Incidental Mutation 'IGL00546:Krt79'
ID11698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt79
Ensembl Gene ENSMUSG00000061397
Gene Namekeratin 79
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00546
Quality Score
Status
Chromosome15
Chromosomal Location101929332-101940324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 101929873 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 482 (N482K)
Ref Sequence ENSEMBL: ENSMUSP00000023799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023799]
Predicted Effect probably benign
Transcript: ENSMUST00000023799
AA Change: N482K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397
AA Change: N482K

DomainStartEndE-ValueType
Pfam:Keratin_2_head 15 98 6.6e-11 PFAM
Pfam:Keratin_2_head 73 135 1.2e-21 PFAM
Filament 138 452 7.12e-159 SMART
low complexity region 474 500 N/A INTRINSIC
low complexity region 519 530 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230441
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 skeletal muscle, skin and scalp. 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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik T C 17: 48,090,576 V127A possibly damaging Het
9130008F23Rik C A 17: 40,880,113 V142L possibly damaging Het
Adnp2 T C 18: 80,128,867 T776A probably benign Het
Arid4a T A 12: 71,075,671 V942E probably benign Het
Bdnf C T 2: 109,723,547 P89S probably benign Het
Camsap3 A G 8: 3,602,077 D302G probably damaging Het
Cnot6 A T 11: 49,685,266 S158T probably benign Het
Dbt A C 3: 116,539,281 K250Q probably benign Het
Exd2 A G 12: 80,480,547 I171M probably benign Het
Gm5415 A T 1: 32,546,667 M54K probably benign Het
Ints14 A T 9: 64,972,792 N196I probably benign Het
Loxhd1 G A 18: 77,405,976 A678T probably damaging Het
Mkl2 T G 16: 13,403,225 L766R possibly damaging Het
Mkl2 C A 16: 13,403,222 A754D probably benign Het
Mrpl51 A G 6: 125,193,214 probably benign Het
Nipsnap1 A G 11: 4,889,098 E126G possibly damaging Het
Plxnb2 A G 15: 89,162,366 probably benign Het
Slc15a5 A G 6: 138,043,538 Y266H probably damaging Het
Ttn C A 2: 76,867,473 D73Y probably damaging Het
Other mutations in Krt79
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Krt79 APN 15 101940166 missense probably damaging 0.98
IGL01595:Krt79 APN 15 101931771 missense probably damaging 0.98
IGL02193:Krt79 APN 15 101939905 missense possibly damaging 0.59
R0639:Krt79 UTSW 15 101931548 nonsense probably null
R0980:Krt79 UTSW 15 101938007 missense probably damaging 1.00
R1839:Krt79 UTSW 15 101937938 missense possibly damaging 0.81
R4624:Krt79 UTSW 15 101939806 missense possibly damaging 0.92
R4745:Krt79 UTSW 15 101930684 missense probably damaging 1.00
R5203:Krt79 UTSW 15 101929740 missense unknown
R5382:Krt79 UTSW 15 101931440 missense probably benign 0.09
R5568:Krt79 UTSW 15 101929785 missense probably damaging 0.99
R6902:Krt79 UTSW 15 101931879 missense probably benign 0.08
R6916:Krt79 UTSW 15 101936170 missense probably benign 0.01
R6998:Krt79 UTSW 15 101937872 missense probably benign
R7009:Krt79 UTSW 15 101931441 missense probably damaging 1.00
R7663:Krt79 UTSW 15 101931843 missense probably damaging 0.97
Posted On2012-12-06