Incidental Mutation 'R0841:Krtdap'
ID 77161
Institutional Source Beutler Lab
Gene Symbol Krtdap
Ensembl Gene ENSMUSG00000074199
Gene Name keratinocyte differentiation associated protein
Synonyms Kdap, sk221
MMRRC Submission 039020-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R0841 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30487330-30490514 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 30488975 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 benign
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 benign
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 benign
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 benign
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
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.4%
  • 20x: 94.1%
Validation Efficiency 94% (45/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T A 4: 73,860,986 (GRCm39) M205L probably benign Het
Aass A T 6: 23,075,810 (GRCm39) C776S probably benign Het
Abi3bp T C 16: 56,488,639 (GRCm39) S1257P possibly damaging Het
Arhgap9 T A 10: 127,165,508 (GRCm39) M639K probably damaging Het
Ctsj C T 13: 61,150,357 (GRCm39) S214N probably damaging Het
Dnali1 T C 4: 124,959,340 (GRCm39) S18G possibly damaging Het
Eif4g3 C T 4: 137,893,129 (GRCm39) T959M probably damaging Het
Eml3 G A 19: 8,915,049 (GRCm39) M635I probably benign Het
Eml6 A G 11: 29,727,430 (GRCm39) F1231L probably benign Het
Fat4 A C 3: 39,050,147 (GRCm39) K4003T probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fgfr2 G A 7: 129,863,635 (GRCm39) P4S probably benign Het
Fgfr2 T C 7: 130,373,737 (GRCm39) probably benign Het
Glp1r T C 17: 31,138,406 (GRCm39) V160A probably benign Het
Gm9726 C T 12: 93,895,054 (GRCm39) noncoding transcript Het
Gm9956 C A 10: 56,621,424 (GRCm39) L29M unknown Het
Gm9956 T A 10: 56,621,425 (GRCm39) L29Q unknown Het
Hddc3 T A 7: 79,995,401 (GRCm39) S139T probably benign Het
Hmcn1 A T 1: 150,555,358 (GRCm39) probably null Het
Inpp5k T C 11: 75,524,285 (GRCm39) probably benign Het
Kcnq1 A G 7: 142,661,189 (GRCm39) K32E probably benign Het
Ldb2 A G 5: 44,690,016 (GRCm39) L201P probably damaging Het
Mdn1 T C 4: 32,752,032 (GRCm39) V4590A probably benign Het
Nip7 C A 8: 107,784,007 (GRCm39) H82Q probably benign Het
Odad2 G T 18: 7,268,436 (GRCm39) P361Q probably damaging Het
Or52l1 A T 7: 104,830,061 (GRCm39) V168E probably damaging Het
Otud6b T A 4: 14,812,532 (GRCm39) T272S probably benign Het
Plxna1 A G 6: 89,309,186 (GRCm39) V1131A probably damaging Het
Prl7a1 T A 13: 27,826,393 (GRCm39) probably benign Het
Sipa1 C A 19: 5,704,835 (GRCm39) A587S probably benign Het
Slc17a6 A T 7: 51,275,063 (GRCm39) I41F probably benign Het
Slc43a2 T A 11: 75,457,815 (GRCm39) Y363* probably null Het
Smg1 A T 7: 117,742,524 (GRCm39) L3230Q possibly damaging Het
Snapc1 C T 12: 74,021,780 (GRCm39) probably benign Het
Syne2 T C 12: 76,121,209 (GRCm39) probably benign Het
Tap2 C A 17: 34,434,914 (GRCm39) D652E possibly damaging Het
Trp53rkb T C 2: 166,637,430 (GRCm39) C129R probably benign Het
Ugt2a2 T C 5: 87,622,648 (GRCm39) T317A probably benign Het
Ugt3a1 G A 15: 9,306,214 (GRCm39) S121N probably benign Het
Unc80 T C 1: 66,511,247 (GRCm39) V85A probably damaging Het
Vmn2r71 A G 7: 85,267,749 (GRCm39) T68A possibly damaging Het
Zfp7 G A 15: 76,775,704 (GRCm39) C582Y probably damaging Het
Other mutations in Krtdap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Krtdap APN 7 30,489,387 (GRCm39) splice site probably null
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
Predicted Primers PCR Primer
(F):5'- TTTCCTACCCACGAATCAGCAACTG -3'
(R):5'- AGATGGTCCCAGAAACTTCACAAGC -3'

Sequencing Primer
(F):5'- TCCCGGACCAGAATGGAG -3'
(R):5'- TCAGGAACTCATTGTTAAGGCCC -3'
Posted On 2013-10-16