Incidental Mutation 'R8705:Krt79'
ID 669247
Institutional Source Beutler Lab
Gene Symbol Krt79
Ensembl Gene ENSMUSG00000061397
Gene Name keratin 79
Synonyms
MMRRC Submission 068559-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8705 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 101837767-101848759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101846441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 169 (T169M)
Ref Sequence ENSEMBL: ENSMUSP00000023799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023799]
AlphaFold Q8VED5
Predicted Effect probably damaging
Transcript: ENSMUST00000023799
AA Change: T169M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397
AA Change: T169M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 97% (36/37)
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
Akr1c6 G T 13: 4,484,447 (GRCm39) G20W probably damaging Het
Ces1c A G 8: 93,857,518 (GRCm39) L21P probably benign Het
Col11a2 G T 17: 34,268,769 (GRCm39) G394V unknown Het
Cyp2c70 A G 19: 40,168,948 (GRCm39) V113A probably benign Het
Foxp1 C G 6: 98,993,507 (GRCm39) Q132H unknown Het
Fras1 A T 5: 96,839,260 (GRCm39) D1593V probably benign Het
Frzb G A 2: 80,277,241 (GRCm39) probably benign Het
Gas6 T C 8: 13,525,156 (GRCm39) D276G probably damaging Het
Gdf7 C T 12: 8,348,167 (GRCm39) E377K probably damaging Het
Ggnbp2 A G 11: 84,753,132 (GRCm39) F36L possibly damaging Het
Gm40460 A T 7: 141,794,734 (GRCm39) C28S unknown Het
Hnrnpd A G 5: 100,111,588 (GRCm39) probably benign Het
Hsd17b11 G A 5: 104,140,703 (GRCm39) L265F probably benign Het
Hyal6 G A 6: 24,734,673 (GRCm39) R202H probably benign Het
Igkv5-43 A G 6: 69,800,592 (GRCm39) S32P probably benign Het
Kank1 A G 19: 25,388,907 (GRCm39) Y860C probably damaging Het
Lama5 C T 2: 179,820,354 (GRCm39) C3296Y probably damaging Het
Ly75 A T 2: 60,148,729 (GRCm39) I1200K probably damaging Het
Myo1b A T 1: 51,902,495 (GRCm39) Y78* probably null Het
Napb A G 2: 148,542,396 (GRCm39) V188A probably benign Het
Neb T C 2: 52,148,795 (GRCm39) Y2584C probably damaging Het
Or52e8 T C 7: 104,624,446 (GRCm39) I253V possibly damaging Het
P4htm G A 9: 108,457,240 (GRCm39) A381V probably damaging Het
Pcdha8 T A 18: 37,126,906 (GRCm39) F463I probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phip T C 9: 82,775,612 (GRCm39) T1030A probably damaging Het
Phrf1 T A 7: 140,838,651 (GRCm39) F615L unknown Het
Prrc2a A G 17: 35,372,542 (GRCm39) S1700P possibly damaging Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Sf3b5 G T 10: 12,884,554 (GRCm39) R63L probably damaging Het
Sh3rf1 T C 8: 61,802,591 (GRCm39) L308P probably damaging Het
Slc7a2 A T 8: 41,368,032 (GRCm39) T599S probably damaging Het
Sox5 T C 6: 143,987,012 (GRCm39) N184S possibly damaging Het
Traf3 A G 12: 111,208,938 (GRCm39) E119G possibly damaging Het
Trim24 T C 6: 37,880,588 (GRCm39) probably benign Het
Ubxn11 A T 4: 133,853,551 (GRCm39) I368F probably damaging Het
Vmn2r27 C T 6: 124,207,188 (GRCm39) G151D probably damaging Het
Wfdc16 T A 2: 164,480,395 (GRCm39) R33S possibly damaging Het
Zfp654 A G 16: 64,605,433 (GRCm39) V382A possibly damaging 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
IGL02193:Krt79 APN 15 101,848,340 (GRCm39) missense possibly damaging 0.59
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
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
Predicted Primers
Posted On 2021-04-30