Incidental Mutation 'R4768:Krt27'
ID 366290
Institutional Source Beutler Lab
Gene Symbol Krt27
Ensembl Gene ENSMUSG00000017588
Gene Name keratin 27
Synonyms Krt1-c29, mIRSa3.1, stpm
MMRRC Submission 042409-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R4768 (G1)
Quality Score 177
Status Not validated
Chromosome 11
Chromosomal Location 99236391-99241930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99240351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 189 (D189V)
Ref Sequence ENSEMBL: ENSMUSP00000017732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017732]
AlphaFold Q9Z320
Predicted Effect probably damaging
Transcript: ENSMUST00000017732
AA Change: D189V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017732
Gene: ENSMUSG00000017588
AA Change: D189V

DomainStartEndE-ValueType
low complexity region 12 31 N/A INTRINSIC
low complexity region 36 61 N/A INTRINSIC
Filament 73 388 6.3e-151 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The mouse type I keratin genes are clustered in a region of chromosome 11. The encoded protein is involved in the formation of intermediate filaments in the inner root sheath. [provided by RefSeq, Sep 2015]
PHENOTYPE: Newborn heterozygotes show a slight bending of the whiskers. At ~P12, the coat develops a loose wave pattern. Whiskers of homozygotes are more curly and irregular while coat waviness occurs earlier and is more prominent. Adult coats are not waved but remains rough in texture. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm A G 3: 153,628,579 (GRCm39) Y419H probably benign Het
Adam28 A G 14: 68,872,264 (GRCm39) V326A possibly damaging Het
Amdhd1 T A 10: 93,370,346 (GRCm39) E164V possibly damaging Het
Arhgap5 T C 12: 52,604,275 (GRCm39) L29S probably damaging Het
Asb5 G A 8: 55,038,031 (GRCm39) D185N probably benign Het
Ascc3 T C 10: 50,576,595 (GRCm39) I850T probably damaging Het
Atxn1 A G 13: 45,711,024 (GRCm39) V636A probably damaging Het
Bmp4 C T 14: 46,623,381 (GRCm39) R55Q probably damaging Het
Brd8dc T C 18: 34,714,005 (GRCm39) R207G probably damaging Het
Cmas T C 6: 142,710,157 (GRCm39) probably null Het
Dchs1 T C 7: 105,420,827 (GRCm39) D531G possibly damaging Het
Etv1 T C 12: 38,877,792 (GRCm39) L44P probably damaging Het
Fam13c T A 10: 70,387,580 (GRCm39) I448N probably damaging Het
Fcsk T C 8: 111,618,766 (GRCm39) T331A probably benign Het
Fut8 A G 12: 77,412,054 (GRCm39) K135E probably benign Het
Gabrg1 A G 5: 70,911,516 (GRCm39) F370S probably damaging Het
Ighv1-5 A T 12: 114,477,143 (GRCm39) M53K probably damaging Het
Igkv9-120 G T 6: 68,027,351 (GRCm39) R88S possibly damaging Het
Kansl1l A G 1: 66,840,292 (GRCm39) V336A probably damaging Het
Marf1 A T 16: 13,949,461 (GRCm39) F1033I possibly damaging Het
Mdfi G A 17: 48,135,475 (GRCm39) T85M probably damaging Het
Mrgpra3 C A 7: 47,239,476 (GRCm39) R150L possibly damaging Het
Mst1r C A 9: 107,788,849 (GRCm39) T456K probably damaging Het
Myh14 A T 7: 44,263,099 (GRCm39) M1734K probably benign Het
Myo1e T C 9: 70,277,751 (GRCm39) I816T possibly damaging Het
Or7d10 A C 9: 19,831,841 (GRCm39) N112T possibly damaging Het
Or8b12 T C 9: 37,658,177 (GRCm39) L249P probably damaging Het
Or8b55 T A 9: 38,727,245 (GRCm39) Y149N probably damaging Het
Or8k28 A T 2: 86,285,994 (GRCm39) L207* probably null Het
Pde4d A G 13: 110,070,408 (GRCm39) R6G probably damaging Het
Pilrb1 G A 5: 137,855,788 (GRCm39) probably benign Het
Prrx1 A G 1: 163,085,334 (GRCm39) Y199H probably damaging Het
Rxfp1 T C 3: 79,594,175 (GRCm39) D73G probably damaging Het
Ryr1 G T 7: 28,704,246 (GRCm39) probably benign Het
Shprh A G 10: 11,057,284 (GRCm39) E1068G probably damaging Het
Slc19a3 G A 1: 83,000,834 (GRCm39) T61I probably damaging Het
Slc9a2 G A 1: 40,765,534 (GRCm39) R308Q probably damaging Het
Suclg2 T G 6: 95,543,469 (GRCm39) I321L probably damaging Het
Top3a A G 11: 60,653,316 (GRCm39) F53L probably damaging Het
Ttn C T 2: 76,599,110 (GRCm39) probably benign Het
Upp2 T C 2: 58,667,907 (GRCm39) V182A probably damaging Het
Vmn2r65 A G 7: 84,596,602 (GRCm39) L151P probably damaging Het
Xylt2 T C 11: 94,561,298 (GRCm39) D155G probably benign Het
Zzz3 A G 3: 152,154,420 (GRCm39) D557G probably damaging Het
Other mutations in Krt27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01970:Krt27 APN 11 99,239,547 (GRCm39) missense probably damaging 0.98
R1957:Krt27 UTSW 11 99,237,309 (GRCm39) critical splice donor site probably null
R2014:Krt27 UTSW 11 99,240,318 (GRCm39) missense probably benign 0.09
R4095:Krt27 UTSW 11 99,236,619 (GRCm39) missense probably benign 0.00
R4975:Krt27 UTSW 11 99,237,722 (GRCm39) nonsense probably null
R5236:Krt27 UTSW 11 99,241,641 (GRCm39) missense possibly damaging 0.87
R6750:Krt27 UTSW 11 99,239,806 (GRCm39) missense probably damaging 0.96
R7044:Krt27 UTSW 11 99,237,640 (GRCm39) missense probably benign 0.35
R7658:Krt27 UTSW 11 99,240,312 (GRCm39) missense possibly damaging 0.69
R8308:Krt27 UTSW 11 99,239,862 (GRCm39) missense probably benign 0.39
R8937:Krt27 UTSW 11 99,239,551 (GRCm39) missense probably damaging 1.00
R9488:Krt27 UTSW 11 99,239,535 (GRCm39) critical splice donor site probably null
Z1176:Krt27 UTSW 11 99,239,804 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GACAGGATCTATAAGGCTCAAAGC -3'
(R):5'- TCTTGCCTCATAGAAGTGTGTC -3'

Sequencing Primer
(F):5'- TGAGCTACTACCCTGGGCTTG -3'
(R):5'- GCCTCATAGAAGTGTGTCTATTCC -3'
Posted On 2015-12-21