Incidental Mutation 'R1855:Krt25'
ID 206046
Institutional Source Beutler Lab
Gene Symbol Krt25
Ensembl Gene ENSMUSG00000035831
Gene Name keratin 25
Synonyms 4631426H08Rik, mIRSa1
MMRRC Submission 039879-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R1855 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 99206342-99213777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99209141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 258 (L258Q)
Ref Sequence ENSEMBL: ENSMUSP00000048439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038004]
AlphaFold Q8VCW2
Predicted Effect probably damaging
Transcript: ENSMUST00000038004
AA Change: L258Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048439
Gene: ENSMUSG00000035831
AA Change: L258Q

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
low complexity region 35 52 N/A INTRINSIC
Filament 74 389 4.13e-146 SMART
low complexity region 391 403 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (72/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mutations in this gene have a defect in hair formation resulting in a wavy coat and curly vibrissae. Some alleles may compromise normal growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,818,195 (GRCm39) L285Q probably damaging Het
Acaca T C 11: 84,262,380 (GRCm39) L1994P probably damaging Het
Adamts9 A G 6: 92,878,350 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,385 (GRCm39) E574G probably benign Het
Ankrd1 T C 19: 36,096,635 (GRCm39) K64R probably damaging Het
Arhgap23 T C 11: 97,339,523 (GRCm39) I163T probably damaging Het
Ascc3 A T 10: 50,494,018 (GRCm39) Q151L probably benign Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
C1s1 A C 6: 124,511,315 (GRCm39) probably null Het
Ccdc150 T C 1: 54,407,069 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,351 (GRCm39) I311N probably damaging Het
Chad T A 11: 94,456,303 (GRCm39) L127H probably damaging Het
Clasp1 G A 1: 118,436,624 (GRCm39) A303T probably damaging Het
Clptm1 A G 7: 19,372,134 (GRCm39) V234A probably benign Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Csnk1a1 T A 18: 61,708,498 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,378,412 (GRCm39) I1475L probably benign Het
Dnah5 T C 15: 28,411,815 (GRCm39) V3728A possibly damaging Het
Dock9 C A 14: 121,877,571 (GRCm39) V391F probably damaging Het
Ehmt2 A T 17: 35,129,752 (GRCm39) I949F probably damaging Het
Eif4g1 C A 16: 20,505,911 (GRCm39) T1025K possibly damaging Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Esrrg A T 1: 187,943,295 (GRCm39) M423L probably damaging Het
Etnppl A T 3: 130,414,371 (GRCm39) I89F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbln7 A G 2: 128,735,755 (GRCm39) T248A possibly damaging Het
Galnt9 C T 5: 110,763,390 (GRCm39) T465M probably damaging Het
Grcc10 A G 6: 124,717,541 (GRCm39) V57A probably benign Het
Herc1 T A 9: 66,298,708 (GRCm39) M614K possibly damaging Het
Itch C T 2: 155,014,374 (GRCm39) probably benign Het
Kdm6b C A 11: 69,298,112 (GRCm39) A167S probably damaging Het
Kidins220 C T 12: 25,106,590 (GRCm39) R1348C probably damaging Het
Kif17 T C 4: 138,015,582 (GRCm39) L577P probably benign Het
Marchf10 T C 11: 105,281,218 (GRCm39) T356A probably benign Het
Mical2 G A 7: 111,944,489 (GRCm39) A940T probably benign Het
Mrpl4 A G 9: 20,914,667 (GRCm39) E81G possibly damaging Het
Mtcl1 A G 17: 66,686,509 (GRCm39) V447A probably benign Het
Mtor C A 4: 148,637,546 (GRCm39) N2502K probably benign Het
Notch4 G A 17: 34,799,936 (GRCm39) D966N probably benign Het
Oip5 C A 2: 119,442,271 (GRCm39) K214N probably benign Het
Or8a1b A T 9: 37,623,266 (GRCm39) F103Y possibly damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pak5 A T 2: 135,929,429 (GRCm39) S585T probably benign Het
Pard3 T A 8: 128,174,293 (GRCm39) probably null Het
Pcnx2 A T 8: 126,534,735 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,492,556 (GRCm39) Y939C possibly damaging Het
Pde1a A G 2: 79,728,408 (GRCm39) probably null Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pikfyve C A 1: 65,297,957 (GRCm39) T1562K probably benign Het
Plekhg6 A T 6: 125,352,802 (GRCm39) M115K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ppp1r3a A T 6: 14,754,993 (GRCm39) W85R probably damaging Het
Rnf123 C A 9: 107,938,990 (GRCm39) R826L probably damaging Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Slc22a2 A G 17: 12,805,699 (GRCm39) D150G probably damaging Het
Snap47 C T 11: 59,319,159 (GRCm39) probably benign Het
Spata22 A G 11: 73,231,385 (GRCm39) D213G probably benign Het
St6galnac2 T A 11: 116,581,141 (GRCm39) R60S probably benign Het
Stk32c A G 7: 138,701,363 (GRCm39) F263S probably damaging Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tex2 T C 11: 106,437,702 (GRCm39) E158G possibly damaging Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Trim25 C T 11: 88,906,407 (GRCm39) T410I probably benign Het
Usp18 T A 6: 121,239,076 (GRCm39) C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 (GRCm39) Y169C probably damaging Het
Wdr33 A T 18: 32,039,909 (GRCm39) probably benign Het
Xpr1 A G 1: 155,159,002 (GRCm39) Y597H probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp566 T G 7: 29,777,927 (GRCm39) S85R probably benign Het
Other mutations in Krt25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Krt25 APN 11 99,208,996 (GRCm39) missense probably benign 0.28
IGL02415:Krt25 APN 11 99,213,398 (GRCm39) missense probably damaging 1.00
IGL02816:Krt25 APN 11 99,208,977 (GRCm39) missense probably benign 0.10
Plush UTSW 11 99,213,461 (GRCm39) missense probably damaging 1.00
Sinuous UTSW 11 99,213,456 (GRCm39) missense probably damaging 0.99
R0138:Krt25 UTSW 11 99,213,524 (GRCm39) missense probably benign 0.00
R0219:Krt25 UTSW 11 99,208,885 (GRCm39) missense probably benign 0.01
R0932:Krt25 UTSW 11 99,212,109 (GRCm39) missense possibly damaging 0.94
R1733:Krt25 UTSW 11 99,207,378 (GRCm39) nonsense probably null
R2120:Krt25 UTSW 11 99,212,023 (GRCm39) missense probably benign 0.01
R2504:Krt25 UTSW 11 99,208,122 (GRCm39) nonsense probably null
R3615:Krt25 UTSW 11 99,208,124 (GRCm39) missense possibly damaging 0.64
R3616:Krt25 UTSW 11 99,208,124 (GRCm39) missense possibly damaging 0.64
R4590:Krt25 UTSW 11 99,208,854 (GRCm39) intron probably benign
R6250:Krt25 UTSW 11 99,211,989 (GRCm39) missense probably damaging 1.00
R6331:Krt25 UTSW 11 99,208,253 (GRCm39) missense probably damaging 1.00
R6927:Krt25 UTSW 11 99,208,205 (GRCm39) missense probably damaging 1.00
R7067:Krt25 UTSW 11 99,208,209 (GRCm39) missense probably benign 0.01
R7289:Krt25 UTSW 11 99,212,098 (GRCm39) missense probably benign 0.15
R7360:Krt25 UTSW 11 99,208,232 (GRCm39) missense probably benign 0.01
R8057:Krt25 UTSW 11 99,208,169 (GRCm39) missense probably benign 0.44
R8090:Krt25 UTSW 11 99,207,416 (GRCm39) critical splice acceptor site probably null
R8933:Krt25 UTSW 11 99,212,064 (GRCm39) missense probably benign 0.31
R8995:Krt25 UTSW 11 99,207,382 (GRCm39) missense probably benign
R9040:Krt25 UTSW 11 99,207,379 (GRCm39) missense probably benign
Z1176:Krt25 UTSW 11 99,213,648 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- TTTCGGTGAGCTCATTCCTG -3'
(R):5'- GTCACTGCAGAACCAAGGAG -3'

Sequencing Primer
(F):5'- AGCTCATTCCTGGCTGAGG -3'
(R):5'- GGAGAAAAACAACGTCTAGACTC -3'
Posted On 2014-06-23