Incidental Mutation 'IGL00899:Krtdap'
ID 27765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtdap
Ensembl Gene ENSMUSG00000074199
Gene Name keratinocyte differentiation associated protein
Synonyms Kdap, sk221
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL00899
Quality Score
Status
Chromosome 7
Chromosomal Location 30487330-30490514 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 30489387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098559] [ENSMUST00000187493] [ENSMUST00000189673] [ENSMUST00000189962] [ENSMUST00000190990]
AlphaFold Q3V2T4
Predicted Effect probably null
Transcript: ENSMUST00000098559
SMART Domains Protein: ENSMUSP00000096159
Gene: ENSMUSG00000074199

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:KRTDAP 23 102 9.1e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186077
Predicted Effect probably null
Transcript: ENSMUST00000187493
SMART Domains Protein: ENSMUSP00000140737
Gene: ENSMUSG00000074199

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:KRTDAP 45 88 7.7e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188036
Predicted Effect probably null
Transcript: ENSMUST00000189673
SMART Domains Protein: ENSMUSP00000139443
Gene: ENSMUSG00000074199

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:KRTDAP 23 77 2.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189962
SMART Domains Protein: ENSMUSP00000140489
Gene: ENSMUSG00000074199

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190480
Predicted Effect probably null
Transcript: ENSMUST00000190990
SMART Domains Protein: ENSMUSP00000139461
Gene: ENSMUSG00000074199

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:KRTDAP 23 91 5.2e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190589
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 encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AU018091 A G 7: 3,208,603 (GRCm39) I442T probably benign Het
Bpifb9a T C 2: 154,106,647 (GRCm39) probably null Het
Ccp110 T A 7: 118,321,907 (GRCm39) C521S probably benign Het
Chd6 A G 2: 160,871,218 (GRCm39) probably benign Het
Cndp2 A T 18: 84,695,501 (GRCm39) D133E probably damaging Het
Crygs T C 16: 22,625,312 (GRCm39) E43G possibly damaging Het
Ednra C T 8: 78,401,700 (GRCm39) G197R probably damaging Het
Esyt1 A G 10: 128,352,932 (GRCm39) L656P probably damaging Het
Ets1 C T 9: 32,664,104 (GRCm39) P118L probably damaging Het
Fam98c A G 7: 28,852,278 (GRCm39) probably benign Het
Foxi1 G A 11: 34,155,772 (GRCm39) T286I probably benign Het
Gimap5 G A 6: 48,730,107 (GRCm39) A226T possibly damaging Het
Heatr1 C T 13: 12,450,057 (GRCm39) A2017V probably benign Het
Ikbkb T C 8: 23,150,463 (GRCm39) S740G possibly damaging Het
Inppl1 A T 7: 101,478,365 (GRCm39) I617N probably damaging Het
Itpkb T C 1: 180,160,558 (GRCm39) L228P probably benign Het
Kcnc4 T A 3: 107,365,779 (GRCm39) D143V possibly damaging Het
Lilra6 T A 7: 3,916,056 (GRCm39) T268S probably damaging Het
M6pr A G 6: 122,292,354 (GRCm39) E183G possibly damaging Het
Muc5ac T A 7: 141,366,440 (GRCm39) V2168D possibly damaging Het
Nbea A G 3: 55,550,266 (GRCm39) S2721P probably benign Het
Or1j20 A T 2: 36,760,222 (GRCm39) I215L probably benign Het
Pqbp1 T C X: 7,762,243 (GRCm39) N94S probably benign Het
Prl3d2 T C 13: 27,306,332 (GRCm39) S20P probably damaging Het
Psmb2 T C 4: 126,601,350 (GRCm39) I151T probably benign Het
Rapgef6 G T 11: 54,510,844 (GRCm39) E107* probably null Het
Slc2a13 T C 15: 91,381,602 (GRCm39) T296A probably benign Het
Tcl1b4 A G 12: 105,170,916 (GRCm39) T55A probably damaging Het
Tg T C 15: 66,545,922 (GRCm39) probably null Het
Trim80 T G 11: 115,338,491 (GRCm39) N440K probably benign Het
Ttc13 C T 8: 125,415,586 (GRCm39) probably benign Het
Ttc38 T A 15: 85,728,663 (GRCm39) I205N possibly damaging Het
Ufl1 T C 4: 25,262,238 (GRCm39) D336G probably damaging Het
Vmn2r74 A T 7: 85,606,338 (GRCm39) I336K probably benign Het
Zbtb26 G T 2: 37,326,270 (GRCm39) Y255* probably null Het
Zfp462 T A 4: 55,007,732 (GRCm39) V57E probably damaging Het
Other mutations in Krtdap
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0841:Krtdap UTSW 7 30,488,975 (GRCm39) splice site probably benign
R1145:Krtdap UTSW 7 30,488,975 (GRCm39) splice site probably benign
R2045:Krtdap UTSW 7 30,490,010 (GRCm39) missense probably benign
R2327:Krtdap UTSW 7 30,489,185 (GRCm39) splice site probably null
R8843:Krtdap UTSW 7 30,488,952 (GRCm39) missense probably damaging 0.99
Posted On 2013-04-17