Incidental Mutation 'IGL02193:Krt79'
ID 283975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt79
Ensembl Gene ENSMUSG00000061397
Gene Name keratin 79
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02193
Quality Score
Status
Chromosome 15
Chromosomal Location 101837767-101848759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 101848340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 104 (P104T)
Ref Sequence ENSEMBL: ENSMUSP00000023799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023799]
AlphaFold Q8VED5
Predicted Effect possibly damaging
Transcript: ENSMUST00000023799
AA Change: P104T

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397
AA Change: P104T

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,572,815 (GRCm39) L812P probably damaging Het
Ankmy1 A T 1: 92,808,767 (GRCm39) F714I probably benign Het
Armh3 G T 19: 45,961,323 (GRCm39) T118K probably benign Het
Celf5 A G 10: 81,306,507 (GRCm39) I52T probably damaging Het
Clstn1 T C 4: 149,729,809 (GRCm39) V771A probably benign Het
Enpep G T 3: 129,075,336 (GRCm39) L661I possibly damaging Het
Faxc A G 4: 21,993,486 (GRCm39) N377D possibly damaging Het
Gabrb3 A G 7: 57,442,264 (GRCm39) E190G probably damaging Het
Gm4787 C T 12: 81,425,302 (GRCm39) M285I probably benign Het
Gm5900 A C 7: 104,599,231 (GRCm39) noncoding transcript Het
Gm6133 A G 18: 78,393,308 (GRCm39) N101D probably benign Het
Gtse1 A G 15: 85,746,531 (GRCm39) K116E probably benign Het
H2-D1 T G 17: 35,484,785 (GRCm39) H215Q possibly damaging Het
Hdc A T 2: 126,443,700 (GRCm39) probably benign Het
Hnrnph3 T C 10: 62,853,056 (GRCm39) H195R probably damaging Het
Ipo8 T C 6: 148,678,782 (GRCm39) T939A probably damaging Het
Irag1 A T 7: 110,498,162 (GRCm39) L411Q probably damaging Het
Lama4 A T 10: 38,918,670 (GRCm39) M384L probably benign Het
Lamb2 T G 9: 108,366,559 (GRCm39) D1590E probably benign Het
Ly6i A T 15: 74,854,879 (GRCm39) C10* probably null Het
Mamdc4 G A 2: 25,454,458 (GRCm39) A1082V probably benign Het
Nlrp4a T A 7: 26,159,117 (GRCm39) L799H probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Or2y13 C T 11: 49,414,571 (GRCm39) T7I possibly damaging Het
Or5al6 A T 2: 85,977,059 (GRCm39) N6K probably benign Het
Or6b1 T C 6: 42,815,753 (GRCm39) probably benign Het
Otud6b T C 4: 14,812,543 (GRCm39) H268R probably damaging Het
Peg3 T C 7: 6,714,927 (GRCm39) E138G probably damaging Het
Phactr1 T C 13: 42,863,176 (GRCm39) probably benign Het
Psmf1 A G 2: 151,562,733 (GRCm39) probably benign Het
Rab32 T C 10: 10,422,199 (GRCm39) probably benign Het
Rfwd3 C T 8: 111,999,647 (GRCm39) probably benign Het
Scart2 A G 7: 139,828,913 (GRCm39) T191A probably benign Het
Slc25a3 A G 10: 90,953,977 (GRCm39) V245A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thoc1 A G 18: 9,992,863 (GRCm39) D545G probably benign Het
Tpst1 T A 5: 130,130,737 (GRCm39) M69K possibly damaging Het
Trank1 T C 9: 111,196,344 (GRCm39) V1456A probably benign Het
Trappc6a T A 7: 19,249,144 (GRCm39) C124S possibly damaging Het
Tsc22d2 T A 3: 58,367,628 (GRCm39) probably benign Het
Other mutations in Krt79
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Krt79 APN 15 101,848,601 (GRCm39) missense probably damaging 0.98
IGL00546:Krt79 APN 15 101,838,308 (GRCm39) missense probably benign 0.00
IGL01595:Krt79 APN 15 101,840,206 (GRCm39) missense probably damaging 0.98
R0639:Krt79 UTSW 15 101,839,983 (GRCm39) nonsense probably null
R0980:Krt79 UTSW 15 101,846,442 (GRCm39) missense probably damaging 1.00
R1839:Krt79 UTSW 15 101,846,373 (GRCm39) missense possibly damaging 0.81
R4624:Krt79 UTSW 15 101,848,241 (GRCm39) missense possibly damaging 0.92
R4745:Krt79 UTSW 15 101,839,119 (GRCm39) missense probably damaging 1.00
R5203:Krt79 UTSW 15 101,838,175 (GRCm39) missense unknown
R5382:Krt79 UTSW 15 101,839,875 (GRCm39) missense probably benign 0.09
R5568:Krt79 UTSW 15 101,838,220 (GRCm39) missense probably damaging 0.99
R6902:Krt79 UTSW 15 101,840,314 (GRCm39) missense probably benign 0.08
R6916:Krt79 UTSW 15 101,844,605 (GRCm39) missense probably benign 0.01
R6998:Krt79 UTSW 15 101,846,307 (GRCm39) missense probably benign
R7009:Krt79 UTSW 15 101,839,876 (GRCm39) missense probably damaging 1.00
R7663:Krt79 UTSW 15 101,840,278 (GRCm39) missense probably damaging 0.97
R8161:Krt79 UTSW 15 101,839,137 (GRCm39) missense probably damaging 0.96
R8184:Krt79 UTSW 15 101,838,187 (GRCm39) missense unknown
R8206:Krt79 UTSW 15 101,848,705 (GRCm39) start gained probably null
R8705:Krt79 UTSW 15 101,846,441 (GRCm39) missense probably damaging 1.00
R8993:Krt79 UTSW 15 101,839,441 (GRCm39) intron probably benign
R9055:Krt79 UTSW 15 101,839,922 (GRCm39) missense probably damaging 1.00
R9322:Krt79 UTSW 15 101,840,245 (GRCm39) missense possibly damaging 0.92
R9456:Krt79 UTSW 15 101,839,904 (GRCm39) missense probably benign 0.02
R9495:Krt79 UTSW 15 101,840,288 (GRCm39) missense probably damaging 1.00
R9514:Krt79 UTSW 15 101,840,288 (GRCm39) missense probably damaging 1.00
R9533:Krt79 UTSW 15 101,848,417 (GRCm39) missense possibly damaging 0.55
R9560:Krt79 UTSW 15 101,846,277 (GRCm39) missense probably damaging 0.99
R9705:Krt79 UTSW 15 101,839,196 (GRCm39) missense probably benign
R9706:Krt79 UTSW 15 101,839,196 (GRCm39) missense probably benign
R9707:Krt79 UTSW 15 101,839,196 (GRCm39) missense probably benign
R9714:Krt79 UTSW 15 101,839,196 (GRCm39) missense probably benign
R9750:Krt79 UTSW 15 101,839,196 (GRCm39) missense probably benign
R9751:Krt79 UTSW 15 101,839,196 (GRCm39) missense probably benign
R9753:Krt79 UTSW 15 101,839,196 (GRCm39) missense probably benign
R9772:Krt79 UTSW 15 101,839,196 (GRCm39) missense probably benign
Posted On 2015-04-16