Incidental Mutation 'R3911:Krt90'
ID 309417
Institutional Source Beutler Lab
Gene Symbol Krt90
Ensembl Gene ENSMUSG00000048699
Gene Name keratin 90
Synonyms 4732456N10Rik
MMRRC Submission 040909-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3911 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 101460791-101471385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101471218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 15 (R15W)
Ref Sequence ENSEMBL: ENSMUSP00000023714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023714] [ENSMUST00000042957]
AlphaFold E9Q1Z0
Predicted Effect probably damaging
Transcript: ENSMUST00000023714
AA Change: R15W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699
AA Change: R15W

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 probably benign
Transcript: ENSMUST00000042957
SMART Domains Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986

DomainStartEndE-ValueType
Pfam:Keratin_2_head 16 146 1e-32 PFAM
Filament 149 462 1.68e-178 SMART
low complexity region 468 527 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T A 5: 124,227,909 (GRCm39) I111F probably benign Het
Abcc12 A C 8: 87,255,048 (GRCm39) probably benign Het
Adgre1 G T 17: 57,754,860 (GRCm39) V653L probably damaging Het
Aebp2 T A 6: 140,593,707 (GRCm39) D230E probably damaging Het
Asap3 A G 4: 135,956,768 (GRCm39) probably benign Het
Bod1l T C 5: 41,974,441 (GRCm39) E2291G probably damaging Het
Casp8 A T 1: 58,872,864 (GRCm39) S267C probably damaging Het
Cchcr1 T C 17: 35,836,233 (GRCm39) V341A probably damaging Het
Cd2ap T A 17: 43,126,980 (GRCm39) probably null Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Clip1 T A 5: 123,728,897 (GRCm39) E1155D probably damaging Het
Cnnm2 A G 19: 46,866,375 (GRCm39) E841G probably damaging Het
Cntrl G A 2: 35,010,061 (GRCm39) R245H probably damaging Het
Cyp2b23 A T 7: 26,380,842 (GRCm39) S128T probably benign Het
Dhrs11 A T 11: 84,712,579 (GRCm39) I196N probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Edc3 A T 9: 57,655,686 (GRCm39) I479F possibly damaging Het
Emg1 T A 6: 124,682,009 (GRCm39) M172L probably benign Het
Epha7 G A 4: 28,938,680 (GRCm39) V512I probably benign Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Fasl C A 1: 161,615,760 (GRCm39) C32F probably benign Het
Flg A T 3: 93,187,307 (GRCm39) H253L probably benign Het
Fnip2 A T 3: 79,386,812 (GRCm39) D971E possibly damaging Het
Gab2 A G 7: 96,948,280 (GRCm39) Y290C probably damaging Het
Gm17067 T A 7: 42,360,104 (GRCm39) I43L possibly damaging Het
Gpld1 A G 13: 25,146,305 (GRCm39) Y183C probably damaging Het
Gpr137c C A 14: 45,516,392 (GRCm39) P327T probably benign Het
Hepacam2 A G 6: 3,494,477 (GRCm39) M1T probably null Het
Ighv5-4 A T 12: 113,561,060 (GRCm39) probably benign Het
Iqca1l A T 5: 24,750,440 (GRCm39) probably benign Het
Itgb8 T A 12: 119,131,740 (GRCm39) E635V possibly damaging Het
Kat14 T C 2: 144,245,982 (GRCm39) V469A probably damaging Het
Kcnj15 C T 16: 95,097,329 (GRCm39) T317I probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl18 A T 9: 110,265,151 (GRCm39) L285Q probably damaging Het
Krtap4-8 A T 11: 99,670,863 (GRCm39) C203S unknown Het
Lsp1 C T 7: 142,040,098 (GRCm39) S75F probably damaging Het
Map1b A G 13: 99,567,580 (GRCm39) S1714P unknown Het
Mcm2 A G 6: 88,865,234 (GRCm39) I481T probably damaging Het
Mcpt9 T C 14: 56,265,136 (GRCm39) T122A probably benign Het
Megf10 A T 18: 57,422,465 (GRCm39) R947W probably damaging Het
Or2ag18 A T 7: 106,405,072 (GRCm39) V199D probably damaging Het
Or51ai2 A T 7: 103,586,616 (GRCm39) N10Y possibly damaging Het
Pank4 A G 4: 155,054,058 (GRCm39) Y79C probably damaging Het
Pds5b T A 5: 150,670,171 (GRCm39) N386K probably benign Het
Pfkm A G 15: 98,022,928 (GRCm39) M362V probably benign Het
Phc2 T C 4: 128,637,351 (GRCm39) probably null Het
Pou4f1 C T 14: 104,703,611 (GRCm39) A274T unknown Het
Proc A G 18: 32,256,758 (GRCm39) L303P probably damaging Het
Ptk2b C T 14: 66,394,517 (GRCm39) G821D possibly damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Serpinb6c T C 13: 34,077,888 (GRCm39) N161D probably benign Het
Sf3b1 G A 1: 55,058,548 (GRCm39) Q14* probably null Het
Sh3d19 G A 3: 86,014,534 (GRCm39) V442M possibly damaging Het
Slc30a8 A G 15: 52,185,097 (GRCm39) I140V probably benign Het
Spata1 T A 3: 146,181,079 (GRCm39) N293I probably damaging Het
Strap T G 6: 137,712,380 (GRCm39) C10G probably damaging Het
Tcf7 C A 11: 52,173,793 (GRCm39) probably benign Het
Tmem114 A T 16: 8,230,054 (GRCm39) M116K probably damaging Het
Tmem63b A G 17: 45,988,884 (GRCm39) S113P probably damaging Het
Tmtc3 A C 10: 100,284,888 (GRCm39) N582K probably damaging Het
Tnfrsf11b G A 15: 54,119,578 (GRCm39) probably benign Het
Tns2 T C 15: 102,022,272 (GRCm39) probably null Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Ush2a T A 1: 188,132,151 (GRCm39) V791D probably benign Het
Vmn2r99 T C 17: 19,614,635 (GRCm39) F785S possibly damaging Het
Vps35l A G 7: 118,345,613 (GRCm39) T49A possibly damaging Het
Wdr35 A T 12: 9,036,077 (GRCm39) I283F probably benign Het
Wnt10b G T 15: 98,672,219 (GRCm39) A166E possibly 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
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
R6674:Krt90 UTSW 15 101,465,761 (GRCm39) missense probably damaging 0.99
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'- TATCCTATGCCGCTGACACC -3'
(R):5'- TTGATCTACTCTGGCCAAGC -3'

Sequencing Primer
(F):5'- CAAAGCTGGCTCGGGTG -3'
(R):5'- CCAAGCCCAGTTCTTGAAAGGG -3'
Posted On 2015-04-17