Incidental Mutation 'IGL00231:Krt75'
ID 2117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt75
Ensembl Gene ENSMUSG00000022986
Gene Name keratin 75
Synonyms Krt2-6hf, Krtcap1, 4732468K03Rik, K6hf
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL00231
Quality Score
Status
Chromosome 15
Chromosomal Location 101471780-101482339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101481081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 231 (E231G)
Ref Sequence ENSEMBL: ENSMUSP00000036246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042957]
AlphaFold Q8BGZ7
Predicted Effect probably benign
Transcript: ENSMUST00000042957
AA Change: E231G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986
AA Change: E231G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196179
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-in mutation that results in the deletion of the highly conserved asparagine residue (N159) in the helix initiation peptide of this gene develop hair shaft and nail abnormalities resembling pachyonychia congenita. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A G 4: 86,303,877 (GRCm39) T1346A probably benign Het
Ccdc102a T C 8: 95,638,266 (GRCm39) probably null Het
Cgrrf1 T C 14: 47,069,779 (GRCm39) F16S probably damaging Het
Clybl T C 14: 122,616,610 (GRCm39) probably benign Het
Cubn T C 2: 13,386,660 (GRCm39) E1535G possibly damaging Het
Dmrtc1b C A X: 101,757,233 (GRCm39) P226H probably benign Het
Dnah17 G A 11: 117,979,040 (GRCm39) A1784V possibly damaging Het
Dnajc24 A G 2: 105,832,348 (GRCm39) Y12H probably damaging Het
Drd1 T C 13: 54,207,486 (GRCm39) T236A probably benign Het
Ep400 A T 5: 110,835,707 (GRCm39) V1934D unknown Het
Flt1 A G 5: 147,517,110 (GRCm39) probably null Het
Fut8 A G 12: 77,495,262 (GRCm39) K284R probably benign Het
Hcn1 A G 13: 118,112,529 (GRCm39) E831G probably damaging Het
Inpp5j A T 11: 3,450,009 (GRCm39) probably benign Het
Insig2 A G 1: 121,233,676 (GRCm39) Y213H probably damaging Het
Kcnh4 G A 11: 100,647,821 (GRCm39) probably benign Het
Kifc2 T A 15: 76,551,662 (GRCm39) probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mfsd4b2 T A 10: 39,801,057 (GRCm39) probably benign Het
Micall2 T A 5: 139,703,311 (GRCm39) probably null Het
Or10ag2 A G 2: 87,248,910 (GRCm39) T173A possibly damaging Het
Or8s5 C T 15: 98,238,054 (GRCm39) S256N possibly damaging Het
Osbp2 C T 11: 3,676,561 (GRCm39) D287N possibly damaging Het
Plin1 A G 7: 79,376,408 (GRCm39) probably benign Het
Ppl T C 16: 4,907,409 (GRCm39) N962S probably benign Het
Psg25 C T 7: 18,260,106 (GRCm39) probably benign Het
Ptprt A T 2: 161,652,544 (GRCm39) D601E probably benign Het
S100a7l2 A G 3: 90,995,665 (GRCm39) M79T probably benign Het
Sbno2 C A 10: 79,900,340 (GRCm39) probably benign Het
Sntg2 T C 12: 30,326,720 (GRCm39) D147G probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Stam2 T A 2: 52,596,418 (GRCm39) I307F possibly damaging Het
Tbx21 T G 11: 96,989,749 (GRCm39) E481A probably damaging Het
Tsc2 G A 17: 24,827,081 (GRCm39) T876I probably damaging Het
Wdfy4 T C 14: 32,824,496 (GRCm39) I1308V possibly damaging Het
Wdr37 C T 13: 8,870,541 (GRCm39) V143I probably damaging Het
Wdr43 T G 17: 71,959,809 (GRCm39) Y550D probably damaging Het
Wnk4 A G 11: 101,159,574 (GRCm39) D593G possibly damaging Het
Other mutations in Krt75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01406:Krt75 APN 15 101,476,460 (GRCm39) missense probably damaging 1.00
IGL01783:Krt75 APN 15 101,473,364 (GRCm39) missense probably benign 0.01
IGL01911:Krt75 APN 15 101,476,537 (GRCm39) missense probably damaging 1.00
IGL01945:Krt75 APN 15 101,478,599 (GRCm39) missense possibly damaging 0.56
IGL02178:Krt75 APN 15 101,481,226 (GRCm39) missense probably benign 0.00
IGL02832:Krt75 APN 15 101,476,508 (GRCm39) missense probably benign 0.02
IGL03173:Krt75 APN 15 101,481,162 (GRCm39) missense probably damaging 1.00
IGL03276:Krt75 APN 15 101,476,811 (GRCm39) missense probably damaging 0.98
BB007:Krt75 UTSW 15 101,473,318 (GRCm39) makesense probably null
BB017:Krt75 UTSW 15 101,473,318 (GRCm39) makesense probably null
R0482:Krt75 UTSW 15 101,478,746 (GRCm39) missense probably benign 0.22
R0595:Krt75 UTSW 15 101,476,789 (GRCm39) missense probably damaging 1.00
R0626:Krt75 UTSW 15 101,482,025 (GRCm39) missense probably benign 0.05
R1495:Krt75 UTSW 15 101,482,308 (GRCm39) start gained probably benign
R1886:Krt75 UTSW 15 101,479,532 (GRCm39) missense probably damaging 0.97
R1906:Krt75 UTSW 15 101,481,801 (GRCm39) missense possibly damaging 0.66
R1907:Krt75 UTSW 15 101,481,801 (GRCm39) missense possibly damaging 0.66
R2055:Krt75 UTSW 15 101,481,196 (GRCm39) missense probably benign 0.08
R2504:Krt75 UTSW 15 101,476,466 (GRCm39) missense probably benign 0.27
R2930:Krt75 UTSW 15 101,476,466 (GRCm39) missense probably benign 0.27
R3788:Krt75 UTSW 15 101,481,956 (GRCm39) missense possibly damaging 0.94
R4494:Krt75 UTSW 15 101,480,136 (GRCm39) nonsense probably null
R4803:Krt75 UTSW 15 101,476,507 (GRCm39) missense probably benign 0.00
R4868:Krt75 UTSW 15 101,476,556 (GRCm39) missense probably damaging 1.00
R4906:Krt75 UTSW 15 101,478,674 (GRCm39) missense probably damaging 1.00
R4969:Krt75 UTSW 15 101,482,248 (GRCm39) missense probably benign
R5069:Krt75 UTSW 15 101,474,673 (GRCm39) critical splice donor site probably null
R5446:Krt75 UTSW 15 101,479,502 (GRCm39) missense probably null 0.22
R6019:Krt75 UTSW 15 101,482,158 (GRCm39) missense probably benign 0.00
R6739:Krt75 UTSW 15 101,479,503 (GRCm39) missense probably benign 0.00
R6835:Krt75 UTSW 15 101,479,472 (GRCm39) missense probably benign 0.16
R7167:Krt75 UTSW 15 101,476,750 (GRCm39) missense possibly damaging 0.90
R7622:Krt75 UTSW 15 101,478,707 (GRCm39) missense probably damaging 1.00
R7930:Krt75 UTSW 15 101,473,318 (GRCm39) makesense probably null
R8046:Krt75 UTSW 15 101,481,199 (GRCm39) missense probably benign 0.01
R8943:Krt75 UTSW 15 101,476,767 (GRCm39) missense probably benign 0.03
R9360:Krt75 UTSW 15 101,476,729 (GRCm39) missense probably damaging 1.00
R9483:Krt75 UTSW 15 101,482,238 (GRCm39) missense probably benign 0.01
R9609:Krt75 UTSW 15 101,474,677 (GRCm39) missense probably benign 0.33
X0022:Krt75 UTSW 15 101,478,648 (GRCm39) missense possibly damaging 0.94
Z1088:Krt75 UTSW 15 101,482,100 (GRCm39) missense probably benign 0.00
Z1177:Krt75 UTSW 15 101,479,489 (GRCm39) missense probably benign 0.00
Posted On 2011-12-09