Incidental Mutation 'R6390:Krtap6-2'
ID 515739
Institutional Source Beutler Lab
Gene Symbol Krtap6-2
Ensembl Gene ENSMUSG00000062433
Gene Name keratin associated protein 6-2
Synonyms
MMRRC Submission 044539-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6390 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 89216214-89216999 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 89216834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 44 (Y44*)
Ref Sequence ENSEMBL: ENSMUSP00000139661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082065]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000082065
AA Change: Y44*
SMART Domains Protein: ENSMUSP00000139661
Gene: ENSMUSG00000062433
AA Change: Y44*

DomainStartEndE-ValueType
low complexity region 2 152 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 100% (29/29)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg9a G T 1: 75,164,625 (GRCm39) P113Q probably damaging Het
Ccdc150 A G 1: 54,407,176 (GRCm39) D1073G probably benign Het
Cd8a A G 6: 71,350,913 (GRCm39) Y126C probably damaging Het
Cdca8 A G 4: 124,830,168 (GRCm39) M68T probably damaging Het
Cyp2d26 G A 15: 82,676,825 (GRCm39) P174S possibly damaging Het
Dnai3 A G 3: 145,801,143 (GRCm39) L105P probably damaging Het
Esco1 T G 18: 10,567,528 (GRCm39) N311H probably damaging Het
Evx1 A G 6: 52,292,842 (GRCm39) M183V probably benign Het
Fam111a T G 19: 12,565,524 (GRCm39) Y424* probably null Het
Fat4 T C 3: 39,034,529 (GRCm39) I2727T probably damaging Het
Ggt6 T A 11: 72,327,437 (GRCm39) Y107N possibly damaging Het
Habp2 G C 19: 56,295,255 (GRCm39) E49Q possibly damaging Het
Hibadh A C 6: 52,533,474 (GRCm39) L214R probably damaging Het
Ift57 T G 16: 49,582,836 (GRCm39) probably null Het
Irak4 T C 15: 94,459,367 (GRCm39) S328P probably damaging Het
Lrrc46 T C 11: 96,931,757 (GRCm39) T22A probably damaging Het
Muc2 G T 7: 141,305,883 (GRCm39) V230L probably damaging Het
Ncan T C 8: 70,567,899 (GRCm39) D71G probably benign Het
Nsd2 T C 5: 34,038,525 (GRCm39) S779P probably damaging Het
Rps6ka5 G T 12: 100,537,251 (GRCm39) T493K probably damaging Het
Slc6a21 A T 7: 44,936,426 (GRCm39) M135L probably benign Het
Sprtn A G 8: 125,629,958 (GRCm39) N417S probably benign Het
Trim61 T A 8: 65,466,842 (GRCm39) M140L probably benign Het
Vars1 C A 17: 35,234,615 (GRCm39) A1148E probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r112 T C 17: 22,824,230 (GRCm39) V495A probably benign Het
Vmn2r117 A T 17: 23,679,088 (GRCm39) V712E possibly damaging Het
Wdfy4 T C 14: 32,826,051 (GRCm39) D1200G probably damaging Het
Zbtb6 A T 2: 37,318,690 (GRCm39) S413T probably benign Het
Zp2 G T 7: 119,740,453 (GRCm39) N170K probably benign Het
Other mutations in Krtap6-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03375:Krtap6-2 APN 16 89,216,644 (GRCm39) missense unknown
R1566:Krtap6-2 UTSW 16 89,216,626 (GRCm39) missense unknown
R4896:Krtap6-2 UTSW 16 89,216,806 (GRCm39) missense unknown
R5857:Krtap6-2 UTSW 16 89,216,530 (GRCm39) missense unknown
R6958:Krtap6-2 UTSW 16 89,216,698 (GRCm39) missense unknown
R7432:Krtap6-2 UTSW 16 89,216,761 (GRCm39) missense unknown
R7454:Krtap6-2 UTSW 16 89,216,800 (GRCm39) missense unknown
R7780:Krtap6-2 UTSW 16 89,216,510 (GRCm39) nonsense probably null
R7981:Krtap6-2 UTSW 16 89,216,562 (GRCm39) missense unknown
R8949:Krtap6-2 UTSW 16 89,216,703 (GRCm39) missense unknown
R9113:Krtap6-2 UTSW 16 89,216,613 (GRCm39) small deletion probably benign
R9562:Krtap6-2 UTSW 16 89,216,722 (GRCm39) missense unknown
R9565:Krtap6-2 UTSW 16 89,216,722 (GRCm39) missense unknown
R9747:Krtap6-2 UTSW 16 89,216,776 (GRCm39) missense unknown
R9757:Krtap6-2 UTSW 16 89,216,958 (GRCm39) missense unknown
R9762:Krtap6-2 UTSW 16 89,216,763 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGCCGTATCCAGAGCCATAG -3'
(R):5'- TCTTTTGCAACCCAAGTGAAC -3'

Sequencing Primer
(F):5'- GTATCCAGAGCCATAGCCAGAG -3'
(R):5'- GTGAACTCTCCTCTATTGACAACATG -3'
Posted On 2018-05-04