Incidental Mutation 'R6674:Krt90'
ID 527223
Institutional Source Beutler Lab
Gene Symbol Krt90
Ensembl Gene ENSMUSG00000048699
Gene Name keratin 90
Synonyms 4732456N10Rik
MMRRC Submission 044794-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6674 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 101460791-101471385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101465761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 287 (L287F)
Ref Sequence ENSEMBL: ENSMUSP00000023714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023714]
AlphaFold E9Q1Z0
Predicted Effect probably damaging
Transcript: ENSMUST00000023714
AA Change: L287F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699
AA Change: L287F

DomainStartEndE-ValueType
Pfam:Keratin_2_head 16 139 3.1e-24 PFAM
Filament 142 453 1.05e-179 SMART
low complexity region 465 522 N/A INTRINSIC
low complexity region 527 535 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197418
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit partial prenatal lethality and thickened long toenails. An increased caudal vertebrae number is observed in some mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armh3 T C 19: 45,963,437 (GRCm39) E92G probably benign Het
Cluh A G 11: 74,557,053 (GRCm39) H1005R probably damaging Het
Coro2b C T 9: 62,339,709 (GRCm39) R13H probably damaging Het
Depdc1a T A 3: 159,232,344 (GRCm39) N698K probably benign Het
Dusp12 G A 1: 170,707,317 (GRCm39) T257I probably benign Het
Esf1 T A 2: 139,962,726 (GRCm39) K782* probably null Het
Extl1 T C 4: 134,085,438 (GRCm39) T560A probably damaging Het
Gpr179 C A 11: 97,238,231 (GRCm39) probably null Het
Mertk T C 2: 128,571,277 (GRCm39) V77A probably benign Het
Nr4a2 C T 2: 57,002,436 (GRCm39) A6T probably damaging Het
Pdzd8 G A 19: 59,289,801 (GRCm39) P533L probably damaging Het
Plxnb1 G A 9: 108,937,214 (GRCm39) G1132R probably benign Het
Ppfia2 A G 10: 106,763,633 (GRCm39) I1209V probably benign Het
Slc26a9 A T 1: 131,692,756 (GRCm39) Q696L probably benign Het
Sphkap A T 1: 83,255,555 (GRCm39) S444R probably benign Het
Tmem144 A G 3: 79,746,490 (GRCm39) F22L possibly damaging Het
Tomm20l A G 12: 71,158,307 (GRCm39) D30G probably damaging Het
Trpc2 A G 7: 101,745,264 (GRCm39) T827A probably benign Het
Unc50 T C 1: 37,476,539 (GRCm39) V208A probably benign Het
Vmn1r125 T C 7: 21,006,638 (GRCm39) S179P probably damaging Het
Vmn1r225 A C 17: 20,723,377 (GRCm39) I273L probably benign Het
Vmn2r117 G A 17: 23,679,023 (GRCm39) Q734* probably null Het
Vmn2r88 A G 14: 51,651,795 (GRCm39) I378V probably benign Het
Zfp507 C T 7: 35,494,159 (GRCm39) V295I probably damaging Het
Zfp981 A G 4: 146,619,950 (GRCm39) R35G probably damaging Het
Other mutations in Krt90
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:Krt90 APN 15 101,471,064 (GRCm39) missense probably benign 0.06
IGL01656:Krt90 APN 15 101,463,878 (GRCm39) missense probably damaging 1.00
IGL02064:Krt90 APN 15 101,471,088 (GRCm39) missense possibly damaging 0.54
R0243:Krt90 UTSW 15 101,471,110 (GRCm39) missense possibly damaging 0.78
R0732:Krt90 UTSW 15 101,468,860 (GRCm39) missense possibly damaging 0.60
R1036:Krt90 UTSW 15 101,471,151 (GRCm39) missense probably benign 0.05
R1616:Krt90 UTSW 15 101,469,026 (GRCm39) missense possibly damaging 0.46
R1750:Krt90 UTSW 15 101,461,800 (GRCm39) unclassified probably benign
R1919:Krt90 UTSW 15 101,465,665 (GRCm39) missense probably damaging 1.00
R2063:Krt90 UTSW 15 101,466,794 (GRCm39) missense probably benign 0.07
R2107:Krt90 UTSW 15 101,471,064 (GRCm39) missense probably benign 0.06
R2155:Krt90 UTSW 15 101,471,046 (GRCm39) missense probably benign 0.00
R2404:Krt90 UTSW 15 101,463,105 (GRCm39) critical splice donor site probably null
R3412:Krt90 UTSW 15 101,469,028 (GRCm39) missense probably damaging 1.00
R3910:Krt90 UTSW 15 101,471,218 (GRCm39) missense probably damaging 1.00
R3911:Krt90 UTSW 15 101,471,218 (GRCm39) missense probably damaging 1.00
R3913:Krt90 UTSW 15 101,471,218 (GRCm39) missense probably damaging 1.00
R4476:Krt90 UTSW 15 101,465,718 (GRCm39) missense probably damaging 1.00
R4748:Krt90 UTSW 15 101,463,768 (GRCm39) missense probably damaging 1.00
R4918:Krt90 UTSW 15 101,470,914 (GRCm39) missense possibly damaging 0.47
R5883:Krt90 UTSW 15 101,461,654 (GRCm39) unclassified probably benign
R6416:Krt90 UTSW 15 101,467,679 (GRCm39) missense probably benign 0.12
R7025:Krt90 UTSW 15 101,465,610 (GRCm39) missense possibly damaging 0.81
R7514:Krt90 UTSW 15 101,461,605 (GRCm39) missense unknown
R7915:Krt90 UTSW 15 101,466,838 (GRCm39) splice site probably null
R8307:Krt90 UTSW 15 101,467,634 (GRCm39) missense probably damaging 1.00
R8756:Krt90 UTSW 15 101,470,779 (GRCm39) critical splice donor site probably null
R9011:Krt90 UTSW 15 101,471,235 (GRCm39) missense probably benign 0.17
R9355:Krt90 UTSW 15 101,461,714 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCCTATGCCTGGGTAATTGG -3'
(R):5'- AGACAACAGGAAGCTGCATTCC -3'

Sequencing Primer
(F):5'- GGATAGATCTTGGCATCTCACC -3'
(R):5'- GGAAGCTGCATTCCACCATG -3'
Posted On 2018-07-23