Incidental Mutation 'R4095:Krt27'
ID 317867
Institutional Source Beutler Lab
Gene Symbol Krt27
Ensembl Gene ENSMUSG00000017588
Gene Name keratin 27
Synonyms Krt1-c29, mIRSa3.1, stpm
MMRRC Submission 040858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R4095 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 99236391-99241930 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99236619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 431 (T431A)
Ref Sequence ENSEMBL: ENSMUSP00000017732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017732]
AlphaFold Q9Z320
Predicted Effect probably benign
Transcript: ENSMUST00000017732
AA Change: T431A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000017732
Gene: ENSMUSG00000017588
AA Change: T431A

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
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 A T 12: 53,186,245 (GRCm39) I1220L probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Apba1 A T 19: 23,921,388 (GRCm39) Q737L probably benign Het
Arvcf T A 16: 18,220,327 (GRCm39) D564E probably damaging Het
Bcl11b G T 12: 107,883,094 (GRCm39) P335Q probably damaging Het
Brd9 G A 13: 74,092,918 (GRCm39) V302I probably benign Het
Brinp3 C A 1: 146,777,430 (GRCm39) H626N possibly damaging Het
C1qc T C 4: 136,617,637 (GRCm39) N153S probably benign Het
Casp3 G A 8: 47,087,251 (GRCm39) G66D probably damaging Het
Coq7 T G 7: 118,126,701 (GRCm39) probably null Het
Dach1 C T 14: 98,138,815 (GRCm39) V491M possibly damaging Het
Dda1 A G 8: 71,926,436 (GRCm39) T52A possibly damaging Het
Entpd7 A G 19: 43,692,640 (GRCm39) Y65C probably damaging Het
Fmnl2 A G 2: 52,991,535 (GRCm39) D350G probably damaging Het
Foxn3 G T 12: 99,162,700 (GRCm39) D400E probably damaging Het
Gbp2 A G 3: 142,343,210 (GRCm39) T576A probably benign Het
Gm15446 T A 5: 110,088,590 (GRCm39) probably null Het
Gtf2a1 G T 12: 91,542,411 (GRCm39) T57K possibly damaging Het
Hps5 T C 7: 46,425,218 (GRCm39) E494G probably benign Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Hydin A G 8: 111,268,179 (GRCm39) N2886S probably damaging Het
Ighv2-6-8 T C 12: 113,759,773 (GRCm39) Y112C probably damaging Het
Kcnf1 A T 12: 17,225,480 (GRCm39) L247Q possibly damaging Het
Kndc1 A G 7: 139,516,938 (GRCm39) M1606V possibly damaging Het
Lama4 A T 10: 38,973,118 (GRCm39) I1562F probably damaging Het
Lrig1 T C 6: 94,590,559 (GRCm39) D487G probably benign Het
Lrp1b G A 2: 41,339,203 (GRCm39) T880I probably benign Het
Ltbp4 A G 7: 27,024,641 (GRCm39) V663A possibly damaging Het
Mapt T C 11: 104,201,362 (GRCm39) probably null Het
Mpdz A T 4: 81,302,060 (GRCm39) V229D possibly damaging Het
Or10am5 T A 7: 6,518,252 (GRCm39) S59C possibly damaging Het
Or6e1 T C 14: 54,520,188 (GRCm39) T55A probably benign Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Parm1 T C 5: 91,742,039 (GRCm39) S136P probably benign Het
Pcdhgb2 T A 18: 37,824,003 (GRCm39) S331R probably benign Het
Pdxk T C 10: 78,300,644 (GRCm39) H13R probably damaging Het
Ppp1r12c T C 7: 4,486,366 (GRCm39) E601G probably damaging Het
Rell1 C A 5: 64,126,013 (GRCm39) V22L probably benign Het
Sema6c T A 3: 95,080,505 (GRCm39) L901Q probably benign Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc22a23 A G 13: 34,489,189 (GRCm39) L116P probably damaging Het
Slit1 A T 19: 41,596,925 (GRCm39) probably benign Het
Spns1 T C 7: 125,969,958 (GRCm39) T481A probably damaging Het
Tmem104 T A 11: 115,134,749 (GRCm39) Y427* probably null Het
Tmem74 G A 15: 43,730,678 (GRCm39) Q122* probably null Het
Tnpo2 T A 8: 85,765,048 (GRCm39) L10Q probably damaging Het
Trav6-2 G T 14: 52,905,272 (GRCm39) A98S probably benign Het
Ttll5 A T 12: 86,003,376 (GRCm39) R214* probably null Het
Ube2b A C 11: 51,888,654 (GRCm39) V39G possibly damaging Het
Vmn1r185 A T 7: 26,311,208 (GRCm39) V99E probably damaging Het
Wnk1 G A 6: 119,925,087 (GRCm39) T1459I probably damaging Het
Zc3h7a T C 16: 10,963,099 (GRCm39) K754R probably damaging Het
Zfp605 A G 5: 110,275,602 (GRCm39) K240R probably damaging Het
Zfp61 A G 7: 23,990,700 (GRCm39) probably null 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
R4768:Krt27 UTSW 11 99,240,351 (GRCm39) missense probably damaging 1.00
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'- AGCATCACCAGAGAGAAAGTC -3'
(R):5'- GCTCTATGAGGCGTTCATGGT -3'

Sequencing Primer
(F):5'- CCAGAGAGAAAGTCAAAGAATGTCAC -3'
(R):5'- TTCGCAGCTCTAGAATGACG -3'
Posted On 2015-05-15