Incidental Mutation 'R9772:Krt79'
ID 733496
Institutional Source Beutler Lab
Gene Symbol Krt79
Ensembl Gene ENSMUSG00000061397
Gene Name keratin 79
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9772 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 101837767-101848759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101839196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 424 (E424D)
Ref Sequence ENSEMBL: ENSMUSP00000023799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023799]
AlphaFold Q8VED5
Predicted Effect probably benign
Transcript: ENSMUST00000023799
AA Change: E424D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397
AA Change: E424D

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.5%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A T 2: 26,985,666 (GRCm39) I517F probably benign Het
Ankdd1a A G 9: 65,408,749 (GRCm39) C506R probably damaging Het
Arid3c T C 4: 41,724,723 (GRCm39) N371D probably damaging Het
Ccdc117 C T 11: 5,492,042 (GRCm39) R6Q possibly damaging Het
Ccdc78 C T 17: 26,005,665 (GRCm39) R26* probably null Het
Clca4a C A 3: 144,676,422 (GRCm39) W86L probably damaging Het
Clrn2 C T 5: 45,611,369 (GRCm39) Q73* probably null Het
Cpne6 A G 14: 55,754,117 (GRCm39) D478G probably benign Het
Cyp2c40 T A 19: 39,792,348 (GRCm39) I199L probably benign Het
Dna2 T C 10: 62,786,522 (GRCm39) V90A probably benign Het
Dydc1 A G 14: 40,804,248 (GRCm39) E90G probably damaging Het
Egf A T 3: 129,499,756 (GRCm39) S795T probably benign Het
Gm13090 G T 4: 151,175,565 (GRCm39) A102S unknown Het
Hectd4 A T 5: 121,448,744 (GRCm39) Y364F probably benign Het
Iqgap3 C A 3: 88,016,176 (GRCm39) F986L probably damaging Het
Ltf T C 9: 110,869,425 (GRCm39) S87P unknown Het
Mesp2 A G 7: 79,461,348 (GRCm39) I224M possibly damaging Het
Mettl25 T C 10: 105,633,127 (GRCm39) R439G probably benign Het
Mettl27 C T 5: 134,962,390 (GRCm39) R63W possibly damaging Het
Nap1l1 C T 10: 111,325,911 (GRCm39) R77* probably null Het
Niban2 T C 2: 32,795,868 (GRCm39) I48T probably damaging Het
Notch4 G T 17: 34,792,883 (GRCm39) probably null Het
Npepps A G 11: 97,113,983 (GRCm39) I631T probably benign Het
Or4c105 G A 2: 88,647,958 (GRCm39) V148I probably benign Het
Or8b51 A T 9: 38,568,964 (GRCm39) C241* probably null Het
Pacsin3 T A 2: 91,093,138 (GRCm39) L210Q probably damaging Het
Ppp2r1a A T 17: 21,181,855 (GRCm39) I458F probably damaging Het
Ryr2 T C 13: 11,609,785 (GRCm39) E4347G probably benign Het
Ryr3 A G 2: 112,657,048 (GRCm39) I1911T probably damaging Het
Sec16a A G 2: 26,329,417 (GRCm39) I866T possibly damaging Het
Sfr1 G T 19: 47,722,019 (GRCm39) C145F probably benign Het
Slc35f4 A T 14: 49,551,175 (GRCm39) Y230N probably damaging Het
Slx4 A G 16: 3,818,849 (GRCm39) V89A Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Tbc1d23 A G 16: 56,990,765 (GRCm39) I671T probably damaging Het
Trub1 G A 19: 57,472,075 (GRCm39) V184I probably benign Het
Usp10 CAA CAAA 8: 120,658,620 (GRCm39) probably null Het
Vit A C 17: 78,932,398 (GRCm39) T502P probably damaging Het
Vmn2r15 C T 5: 109,434,923 (GRCm39) G594R probably 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
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
Predicted Primers PCR Primer
(F):5'- ATCTGACCCCGTCAAGCAAG -3'
(R):5'- AGCCTGGATAGTATTCCCAATACC -3'

Sequencing Primer
(F):5'- CTAGGGTTACAGATGGCCAACC -3'
(R):5'- AATACCATTTTCCCGTGGGCAG -3'
Posted On 2022-11-14