Incidental Mutation 'IGL02742:Krtap1-4'
ID305941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap1-4
Ensembl Gene ENSMUSG00000075567
Gene Namekeratin associated protein 1-4
SynonymsOTTMUSG00000004966
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.303) question?
Stock #IGL02742
Quality Score
Status
Chromosome11
Chromosomal Location99583062-99583654 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 99583114 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054532] [ENSMUST00000100479]
Predicted Effect probably benign
Transcript: ENSMUST00000054532
SMART Domains Protein: ENSMUSP00000053312
Gene: ENSMUSG00000047253

DomainStartEndE-ValueType
Pfam:Keratin_B2 1 42 6.1e-14 PFAM
Pfam:Keratin_B2_2 1 43 1.2e-6 PFAM
Pfam:Keratin_B2 28 122 3.2e-42 PFAM
Pfam:Keratin_B2_2 59 98 3.7e-4 PFAM
Pfam:Keratin_B2_2 82 122 1.5e-3 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000100479
AA Change: H172R
SMART Domains Protein: ENSMUSP00000098048
Gene: ENSMUSG00000075567
AA Change: H172R

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 44 1.6e-4 PFAM
Pfam:Keratin_B2 1 54 1.1e-16 PFAM
Pfam:Keratin_B2_2 19 64 1.6e-9 PFAM
Pfam:Keratin_B2_2 34 82 6.7e-8 PFAM
Pfam:Keratin_B2 39 178 2.6e-50 PFAM
Pfam:Keratin_B2_2 59 106 1.9e-10 PFAM
Pfam:Keratin_B2_2 149 188 3.9e-6 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,095,625 T506A probably damaging Het
AI314180 A G 4: 58,840,757 V667A probably damaging Het
Ankib1 A C 5: 3,693,479 D845E probably benign Het
Atxn2 T C 5: 121,781,336 V369A possibly damaging Het
Ccdc50 T A 16: 27,406,784 probably benign Het
Clec2g A G 6: 128,980,261 I61V possibly damaging Het
Col16a1 G A 4: 130,061,379 probably benign Het
Dapk2 A G 9: 66,231,814 Y139C probably damaging Het
Fnip1 T C 11: 54,493,351 L334P probably damaging Het
Igf1r A G 7: 68,189,991 E682G possibly damaging Het
Ints8 T C 4: 11,241,627 E272G possibly damaging Het
Jph2 G A 2: 163,375,779 P326S probably damaging Het
Lrp5 A G 19: 3,604,022 I1135T probably damaging Het
Lrrk1 A G 7: 66,308,691 V320A probably benign Het
Myh6 A C 14: 54,953,924 I820S possibly damaging Het
Napg A T 18: 62,986,248 T110S probably damaging Het
Nova1 G A 12: 46,720,692 Q56* probably null Het
Phyhip A G 14: 70,461,927 probably null Het
Pkd2l2 C A 18: 34,416,917 S205* probably null Het
Ppp2r1a G T 17: 20,959,003 C101F probably benign Het
Serpinb3c G A 1: 107,273,142 R182* probably null Het
St18 A C 1: 6,802,316 probably benign Het
St6galnac4 C T 2: 32,597,084 R264C possibly damaging Het
Tmem168 T C 6: 13,603,262 Y35C probably benign Het
Tmem219 A G 7: 126,897,048 L74P probably damaging Het
Trpc4 T A 3: 54,299,246 N622K probably damaging Het
Trpm6 A C 19: 18,830,012 probably benign Het
Ttl C A 2: 129,066,293 F49L possibly damaging Het
Vmn1r123 A T 7: 21,163,043 I287F possibly damaging Het
Vmn2r97 T G 17: 18,929,170 I273M probably damaging Het
Wdr5 C A 2: 27,520,425 probably benign Het
Zcchc6 C T 13: 59,816,342 D250N probably damaging Het
Zfp37 C A 4: 62,192,311 C172F possibly damaging Het
Other mutations in Krtap1-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3429:Krtap1-4 UTSW 11 99583194 unclassified probably benign
R5072:Krtap1-4 UTSW 11 99583616 unclassified probably benign
Posted On2015-04-16