Incidental Mutation 'IGL01911:Krt75'
ID179815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt75
Ensembl Gene ENSMUSG00000022986
Gene Namekeratin 75
SynonymsKrt2-6hf, 4732468K03Rik, K6hf, Krtcap1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.260) question?
Stock #IGL01911
Quality Score
Status
Chromosome15
Chromosomal Location101563345-101573904 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 101568102 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 409 (D409E)
Ref Sequence ENSEMBL: ENSMUSP00000036246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042957]
Predicted Effect probably damaging
Transcript: ENSMUST00000042957
AA Change: D409E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036246
Gene: ENSMUSG00000022986
AA Change: D409E

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik A G 5: 107,508,580 H903R probably damaging Het
Aox3 T C 1: 58,152,560 F424L probably benign Het
Arhgap11a T C 2: 113,840,732 T301A probably damaging Het
Atp9a C A 2: 168,653,561 R575L probably damaging Het
Brca2 G A 5: 150,567,613 D3088N probably damaging Het
Brd3 G A 2: 27,459,800 T247I probably damaging Het
Cacna1i A G 15: 80,391,732 N1908S probably benign Het
Ccdc40 A T 11: 119,231,971 probably null Het
Cdyl T C 13: 35,863,243 V389A probably damaging Het
Col28a1 A G 6: 8,014,963 F814S probably damaging Het
Cstf3 T C 2: 104,646,631 F149S probably damaging Het
Dglucy T C 12: 100,838,525 Y122H probably damaging Het
Dram1 T C 10: 88,325,341 D222G probably damaging Het
Ets2 G A 16: 95,711,758 R96H probably damaging Het
Gm11563 T A 11: 99,658,701 R76* probably null Het
Gm17093 A C 14: 44,520,820 probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpi1 A T 7: 34,220,922 V136D probably damaging Het
Hfm1 G A 5: 106,911,544 T204M possibly damaging Het
Itgae T C 11: 73,116,137 I403T probably damaging Het
Limk2 T G 11: 3,355,340 T76P probably benign Het
Mtus2 A T 5: 148,078,220 M608L probably benign Het
Obscn C A 11: 59,008,595 E979* probably null Het
Olfr598 T G 7: 103,329,273 F262L probably benign Het
P2rx7 C T 5: 122,658,768 A166V probably damaging Het
Pomgnt2 T C 9: 121,982,788 E309G probably benign Het
Pqlc2 A G 4: 139,301,073 V186A probably benign Het
Sbno2 A T 10: 80,069,624 Y199* probably null Het
Setd2 C A 9: 110,617,431 probably null Het
Vmn2r84 T A 10: 130,386,408 I648F probably damaging Het
Vrtn C T 12: 84,650,206 R577W probably benign Het
Znhit6 A G 3: 145,578,098 probably benign Het
Other mutations in Krt75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Krt75 APN 15 101572646 missense probably benign
IGL01406:Krt75 APN 15 101568025 missense probably damaging 1.00
IGL01783:Krt75 APN 15 101564929 missense probably benign 0.01
IGL01945:Krt75 APN 15 101570164 missense possibly damaging 0.56
IGL02178:Krt75 APN 15 101572791 missense probably benign 0.00
IGL02832:Krt75 APN 15 101568073 missense probably benign 0.02
IGL03173:Krt75 APN 15 101572727 missense probably damaging 1.00
IGL03276:Krt75 APN 15 101568376 missense probably damaging 0.98
R0482:Krt75 UTSW 15 101570311 missense probably benign 0.22
R0595:Krt75 UTSW 15 101568354 missense probably damaging 1.00
R0626:Krt75 UTSW 15 101573590 missense probably benign 0.05
R1495:Krt75 UTSW 15 101573873 start gained probably benign
R1886:Krt75 UTSW 15 101571097 missense probably damaging 0.97
R1906:Krt75 UTSW 15 101573366 missense possibly damaging 0.66
R1907:Krt75 UTSW 15 101573366 missense possibly damaging 0.66
R2055:Krt75 UTSW 15 101572761 missense probably benign 0.08
R2504:Krt75 UTSW 15 101568031 missense probably benign 0.27
R2930:Krt75 UTSW 15 101568031 missense probably benign 0.27
R3788:Krt75 UTSW 15 101573521 missense possibly damaging 0.94
R4494:Krt75 UTSW 15 101571701 nonsense probably null
R4803:Krt75 UTSW 15 101568072 missense probably benign 0.00
R4868:Krt75 UTSW 15 101568121 missense probably damaging 1.00
R4906:Krt75 UTSW 15 101570239 missense probably damaging 1.00
R4969:Krt75 UTSW 15 101573813 missense probably benign
R5069:Krt75 UTSW 15 101566238 critical splice donor site probably null
R5446:Krt75 UTSW 15 101571067 missense probably null 0.22
R6019:Krt75 UTSW 15 101573723 missense probably benign 0.00
R6739:Krt75 UTSW 15 101571068 missense probably benign 0.00
R6835:Krt75 UTSW 15 101571037 missense probably benign 0.16
X0022:Krt75 UTSW 15 101570213 missense possibly damaging 0.94
Z1088:Krt75 UTSW 15 101573665 missense probably benign 0.00
Posted On2014-05-07