Incidental Mutation 'R3913:Krt90'
ID 309526
Institutional Source Beutler Lab
Gene Symbol Krt90
Ensembl Gene ENSMUSG00000048699
Gene Name keratin 90
Synonyms 4732456N10Rik
MMRRC Submission 040911-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3913 (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: 95.3%
Validation Efficiency 100% (59/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Adra1d T A 2: 131,404,075 (GRCm39) D5V probably damaging Het
Arid1b A G 17: 5,392,532 (GRCm39) I2021V possibly damaging Het
Birc6 A T 17: 74,880,608 (GRCm39) R462* probably null Het
Cchcr1 T C 17: 35,836,233 (GRCm39) V341A probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Crybg1 T C 10: 43,874,759 (GRCm39) D783G possibly damaging Het
Dcaf15 T C 8: 84,825,794 (GRCm39) Y271C probably damaging Het
Dcun1d2 A C 8: 13,331,082 (GRCm39) M16R probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnttip2 T C 3: 122,069,040 (GRCm39) V85A possibly damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Gdpd5 A G 7: 99,087,546 (GRCm39) D70G probably null Het
Glyr1 A G 16: 4,849,777 (GRCm39) F199L probably damaging Het
Golga4 T A 9: 118,368,039 (GRCm39) M414K probably damaging Het
Gpr132 C A 12: 112,816,640 (GRCm39) W62L probably benign Het
Gpr179 A T 11: 97,225,591 (GRCm39) V2188E probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kcnab2 A G 4: 152,479,689 (GRCm39) V187A 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
Klhl30 T C 1: 91,287,166 (GRCm39) V484A possibly damaging Het
Liph G T 16: 21,781,009 (GRCm39) probably benign Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Maml1 T C 11: 50,154,259 (GRCm39) T602A probably benign Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mei4 A G 9: 81,772,316 (GRCm39) K43R probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mst1r G A 9: 107,791,945 (GRCm39) R827Q probably benign Het
Olfm1 A G 2: 28,098,186 (GRCm39) T83A possibly damaging Het
Or1e30 G T 11: 73,678,522 (GRCm39) G253W probably damaging Het
Or5m10b T C 2: 85,699,115 (GRCm39) Y60H probably damaging Het
Parp4 A G 14: 56,857,975 (GRCm39) E869G probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Patj A G 4: 98,457,338 (GRCm39) D1280G probably damaging Het
Ppargc1b T C 18: 61,444,447 (GRCm39) S255G probably damaging Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Robo2 A T 16: 73,831,893 (GRCm39) D262E probably damaging Het
Sec14l5 A G 16: 4,965,720 (GRCm39) probably benign Het
Sema4b A G 7: 79,870,222 (GRCm39) S467G probably benign Het
Setd2 C T 9: 110,380,114 (GRCm39) R1310C probably damaging Het
Sh3d19 T C 3: 85,992,083 (GRCm39) I37T probably damaging Het
Slc23a3 T A 1: 75,105,566 (GRCm39) I422F probably benign Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Son A T 16: 91,456,999 (GRCm39) probably benign Het
Tnks A T 8: 35,340,228 (GRCm39) S463R probably damaging Het
Tubb3 A G 8: 124,147,748 (GRCm39) H227R possibly damaging Het
Tyw1 T A 5: 130,287,876 (GRCm39) V36D probably damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Zdhhc8 A G 16: 18,044,587 (GRCm39) L311P 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
R3911: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'- CTTTGATCTACTCTGGCCAAGC -3'

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