Incidental Mutation 'R6391:Krtap3-3'
ID 515773
Institutional Source Beutler Lab
Gene Symbol Krtap3-3
Ensembl Gene ENSMUSG00000069722
Gene Name keratin associated protein 3-3
Synonyms KAP3.3, 2310020D06Rik, KRTAP3.3
MMRRC Submission 044540-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6391 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 99440958-99441689 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99441490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 49 (D49G)
Ref Sequence ENSEMBL: ENSMUSP00000090374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092700]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000092700
AA Change: D49G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090374
Gene: ENSMUSG00000069722
AA Change: D49G

DomainStartEndE-ValueType
Pfam:Keratin_matx 3 98 2.1e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl7b G T 5: 135,208,879 (GRCm39) S114I probably damaging Het
Cct8 A T 16: 87,284,566 (GRCm39) M207K probably benign Het
Cnga1 A G 5: 72,769,702 (GRCm39) probably null Het
Cst13 T C 2: 148,670,111 (GRCm39) C94R probably damaging Het
Cyp8b1 G T 9: 121,744,864 (GRCm39) S156* probably null Het
Dip2b T C 15: 100,049,157 (GRCm39) S184P probably damaging Het
Dmbt1 T C 7: 130,659,984 (GRCm39) W516R probably damaging Het
Dock8 A T 19: 25,072,914 (GRCm39) Y398F possibly damaging Het
Drosha T A 15: 12,889,803 (GRCm39) C890* probably null Het
Eed A G 7: 89,626,149 (GRCm39) S75P probably benign Het
Efcab3 T C 11: 104,885,143 (GRCm39) L4134S possibly damaging Het
Etaa1 A C 11: 17,896,833 (GRCm39) I428S probably benign Het
F5 A T 1: 164,021,062 (GRCm39) D1179V probably damaging Het
Fat1 T C 8: 45,405,379 (GRCm39) V710A possibly damaging Het
Fmo4 G A 1: 162,621,538 (GRCm39) Q558* probably null Het
Gm7361 A G 5: 26,463,960 (GRCm39) I72V probably benign Het
Grm4 A G 17: 27,654,294 (GRCm39) V552A probably benign Het
Krt13 T A 11: 100,010,202 (GRCm39) I260F probably damaging Het
Lpin1 T C 12: 16,614,554 (GRCm39) E409G probably benign Het
Ly9 A G 1: 171,428,576 (GRCm39) V238A possibly damaging Het
Map2k6 T C 11: 110,381,703 (GRCm39) probably null Het
Mylk2 T C 2: 152,759,315 (GRCm39) L362P probably damaging Het
Or4c120 T A 2: 89,000,942 (GRCm39) I205F probably benign Het
Or4c3 A G 2: 89,851,975 (GRCm39) V145A probably benign Het
Or51a6 T A 7: 102,604,622 (GRCm39) Y69F possibly damaging Het
Pcdha9 G A 18: 37,130,972 (GRCm39) V14M probably benign Het
Pdzrn4 A T 15: 92,578,418 (GRCm39) E380D probably damaging Het
Piezo2 A G 18: 63,239,364 (GRCm39) Y739H possibly damaging Het
Pigk A G 3: 152,446,486 (GRCm39) H195R probably benign Het
Plin2 T C 4: 86,580,236 (GRCm39) D175G probably null Het
Plk4 T A 3: 40,763,408 (GRCm39) H526Q probably benign Het
Pom121l12 A T 11: 14,549,489 (GRCm39) D65V probably damaging Het
Prb1a T C 6: 132,184,139 (GRCm39) Y498C unknown Het
Sh3bp2 G A 5: 34,718,947 (GRCm39) V495I probably damaging Het
Slx4ip T A 2: 136,888,669 (GRCm39) C117S probably damaging Het
Tmtc2 A T 10: 105,409,551 (GRCm39) S20R probably benign Het
Unc79 A G 12: 102,987,269 (GRCm39) Y186C probably damaging Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r26 T C 6: 124,038,348 (GRCm39) L641P probably damaging Het
Wdr17 A T 8: 55,114,495 (GRCm39) S674T probably benign Het
Zfp959 T C 17: 56,202,854 (GRCm39) F10L probably damaging Het
Other mutations in Krtap3-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
X0063:Krtap3-3 UTSW 11 99,441,619 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TTCGAAGACTGGTGCCAAGC -3'
(R):5'- GAGCAAGAGGAGACATTTGAACTTC -3'

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