Incidental Mutation 'R0692:Krt81'
ID 63385
Institutional Source Beutler Lab
Gene Symbol Krt81
Ensembl Gene ENSMUSG00000067615
Gene Name keratin 81
Synonyms Krt2-19
MMRRC Submission 038877-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0692 (G1)
Quality Score 173
Status Not validated
Chromosome 15
Chromosomal Location 101356942-101361632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101358053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 400 (D400G)
Ref Sequence ENSEMBL: ENSMUSP00000056525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061185]
AlphaFold Q9ERE2
Predicted Effect possibly damaging
Transcript: ENSMUST00000061185
AA Change: D400G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: D400G

DomainStartEndE-ValueType
Pfam:Keratin_2_head 2 102 5.6e-15 PFAM
Filament 105 416 6.92e-148 SMART
low complexity region 424 438 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230541
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,205,383 (GRCm39) D44E probably damaging Het
Bpifb5 T C 2: 154,076,616 (GRCm39) V421A probably benign Het
Clk4 C T 11: 51,172,155 (GRCm39) R273* probably null Het
Cmya5 A T 13: 93,230,357 (GRCm39) L1577* probably null Het
Col14a1 G C 15: 55,205,134 (GRCm39) G88A unknown Het
Helz2 A G 2: 180,882,674 (GRCm39) C40R probably benign Het
Kcng1 T A 2: 168,104,683 (GRCm39) I388F probably damaging Het
Krt35 T C 11: 99,983,896 (GRCm39) E368G possibly damaging Het
Mcm3ap T C 10: 76,319,003 (GRCm39) C744R probably damaging Het
Or5m3b A G 2: 85,872,516 (GRCm39) M286V probably benign Het
Pde6c A T 19: 38,168,698 (GRCm39) Y788F probably damaging Het
Plxnc1 A G 10: 94,673,362 (GRCm39) probably null Het
Rflnb T C 11: 75,918,279 (GRCm39) D62G probably benign Het
Sema4f CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 6: 82,916,511 (GRCm39) probably benign Het
Slc12a1 T A 2: 125,036,082 (GRCm39) Y651* probably null Het
Srbd1 T C 17: 86,443,888 (GRCm39) T113A probably benign Het
Svopl A T 6: 37,994,131 (GRCm39) L300Q probably damaging Het
Trim41 C T 11: 48,699,077 (GRCm39) probably null Het
Vmn1r23 C A 6: 57,903,110 (GRCm39) E223* probably null Het
Other mutations in Krt81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Krt81 APN 15 101,358,159 (GRCm39) missense probably benign 0.01
IGL01012:Krt81 APN 15 101,358,900 (GRCm39) missense probably benign 0.05
IGL01287:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
IGL01304:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
IGL01319:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
IGL01403:Krt81 APN 15 101,361,269 (GRCm39) missense probably benign 0.00
PIT4508001:Krt81 UTSW 15 101,360,606 (GRCm39) missense probably damaging 1.00
R0083:Krt81 UTSW 15 101,361,346 (GRCm39) missense probably damaging 1.00
R0097:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0099:Krt81 UTSW 15 101,361,402 (GRCm39) nonsense probably null
R0110:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0112:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0196:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0449:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0450:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0482:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0510:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0511:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0512:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0514:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0533:Krt81 UTSW 15 101,359,270 (GRCm39) missense probably benign 0.42
R0639:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0674:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R0737:Krt81 UTSW 15 101,361,508 (GRCm39) missense possibly damaging 0.81
R1458:Krt81 UTSW 15 101,358,198 (GRCm39) missense probably benign 0.34
R1824:Krt81 UTSW 15 101,358,020 (GRCm39) missense probably damaging 0.98
R1991:Krt81 UTSW 15 101,360,435 (GRCm39) missense probably benign 0.01
R2338:Krt81 UTSW 15 101,361,217 (GRCm39) missense probably benign 0.25
R4169:Krt81 UTSW 15 101,359,193 (GRCm39) missense probably benign
R4170:Krt81 UTSW 15 101,359,193 (GRCm39) missense probably benign
R5267:Krt81 UTSW 15 101,357,340 (GRCm39) missense probably benign
R5903:Krt81 UTSW 15 101,358,083 (GRCm39) missense probably damaging 1.00
R6306:Krt81 UTSW 15 101,357,404 (GRCm39) missense probably benign 0.01
R7055:Krt81 UTSW 15 101,359,006 (GRCm39) missense probably benign 0.43
R7069:Krt81 UTSW 15 101,358,609 (GRCm39) missense possibly damaging 0.75
R7191:Krt81 UTSW 15 101,358,110 (GRCm39) missense probably damaging 1.00
R7441:Krt81 UTSW 15 101,359,251 (GRCm39) missense possibly damaging 0.95
R7727:Krt81 UTSW 15 101,357,448 (GRCm39) missense probably damaging 1.00
R7728:Krt81 UTSW 15 101,358,087 (GRCm39) missense probably damaging 1.00
R7733:Krt81 UTSW 15 101,361,395 (GRCm39) missense probably damaging 0.96
R8460:Krt81 UTSW 15 101,361,493 (GRCm39) missense probably damaging 0.98
R9324:Krt81 UTSW 15 101,361,335 (GRCm39) missense probably damaging 0.99
R9597:Krt81 UTSW 15 101,358,919 (GRCm39) missense probably benign 0.06
R9638:Krt81 UTSW 15 101,358,856 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CCAATGTAGTAGCAAACAGTGCCCC -3'
(R):5'- CTCAGGCTGACCCATGTGAACAAG -3'

Sequencing Primer
(F):5'- AGAATTTTCCCTCAACAGTTGGTC -3'
(R):5'- AGGGACCCTTGGCTATCTCC -3'
Posted On 2013-07-30