Incidental Mutation 'IGL02742:Krtap1-4'
ID 305941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap1-4
Ensembl Gene ENSMUSG00000075567
Gene Name keratin associated protein 1-4
Synonyms OTTMUSG00000004966
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # IGL02742
Quality Score
Status
Chromosome 11
Chromosomal Location 99473888-99474480 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 99473940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000053312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054532] [ENSMUST00000100479]
AlphaFold Q3V2D6
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: 103,972,824 (GRCm39) T506A probably damaging Het
Ankib1 A C 5: 3,743,479 (GRCm39) D845E probably benign Het
Atxn2 T C 5: 121,919,399 (GRCm39) V369A possibly damaging Het
Ccdc50 T A 16: 27,225,534 (GRCm39) probably benign Het
Clec2g A G 6: 128,957,224 (GRCm39) I61V possibly damaging Het
Col16a1 G A 4: 129,955,172 (GRCm39) probably benign Het
Dapk2 A G 9: 66,139,096 (GRCm39) Y139C probably damaging Het
Ecpas A G 4: 58,840,757 (GRCm39) V667A probably damaging Het
Fnip1 T C 11: 54,384,177 (GRCm39) L334P probably damaging Het
Igf1r A G 7: 67,839,739 (GRCm39) E682G possibly damaging Het
Ints8 T C 4: 11,241,627 (GRCm39) E272G possibly damaging Het
Jph2 G A 2: 163,217,699 (GRCm39) P326S probably damaging Het
Lrp5 A G 19: 3,654,022 (GRCm39) I1135T probably damaging Het
Lrrk1 A G 7: 65,958,439 (GRCm39) V320A probably benign Het
Myh6 A C 14: 55,191,381 (GRCm39) I820S possibly damaging Het
Napg A T 18: 63,119,319 (GRCm39) T110S probably damaging Het
Nova1 G A 12: 46,767,475 (GRCm39) Q56* probably null Het
Phyhip A G 14: 70,699,367 (GRCm39) probably null Het
Pkd2l2 C A 18: 34,549,970 (GRCm39) S205* probably null Het
Ppp2r1a G T 17: 21,179,265 (GRCm39) C101F probably benign Het
Serpinb3c G A 1: 107,200,872 (GRCm39) R182* probably null Het
St18 A C 1: 6,872,540 (GRCm39) probably benign Het
St6galnac4 C T 2: 32,487,096 (GRCm39) R264C possibly damaging Het
Tmem168 T C 6: 13,603,261 (GRCm39) Y35C probably benign Het
Tmem219 A G 7: 126,496,220 (GRCm39) L74P probably damaging Het
Trpc4 T A 3: 54,206,667 (GRCm39) N622K probably damaging Het
Trpm6 A C 19: 18,807,376 (GRCm39) probably benign Het
Ttl C A 2: 128,908,213 (GRCm39) F49L possibly damaging Het
Tut7 C T 13: 59,964,156 (GRCm39) D250N probably damaging Het
Vmn1r123 A T 7: 20,896,968 (GRCm39) I287F possibly damaging Het
Vmn2r97 T G 17: 19,149,432 (GRCm39) I273M probably damaging Het
Wdr5 C A 2: 27,410,437 (GRCm39) probably benign Het
Zfp37 C A 4: 62,110,548 (GRCm39) C172F possibly damaging Het
Other mutations in Krtap1-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3429:Krtap1-4 UTSW 11 99,474,020 (GRCm39) unclassified probably benign
R5072:Krtap1-4 UTSW 11 99,474,442 (GRCm39) unclassified probably benign
R9356:Krtap1-4 UTSW 11 99,474,169 (GRCm39) nonsense probably null
Posted On 2015-04-16