Incidental Mutation 'R4370:Krtap4-7'
ID 325961
Institutional Source Beutler Lab
Gene Symbol Krtap4-7
Ensembl Gene ENSMUSG00000045109
Gene Name keratin associated protein 4-7
Synonyms 2310037K05Rik, KAP4.7, KRTAP4.7
MMRRC Submission 041674-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4370 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 99533938-99534915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99534543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 107 (P107S)
Ref Sequence ENSEMBL: ENSMUSP00000053711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055121]
AlphaFold Q9D732
Predicted Effect unknown
Transcript: ENSMUST00000055121
AA Change: P107S
SMART Domains Protein: ENSMUSP00000053711
Gene: ENSMUSG00000045109
AA Change: P107S

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 43 1.1e-7 PFAM
Pfam:Keratin_B2_2 14 58 2.4e-13 PFAM
Pfam:Keratin_B2_2 59 100 1.5e-13 PFAM
internal_repeat_1 142 157 3.71e-7 PROSPERO
internal_repeat_1 152 167 3.71e-7 PROSPERO
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T A 2: 127,720,708 (GRCm39) D190E possibly damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Armc2 A T 10: 41,793,196 (GRCm39) N809K probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bmal2 A T 6: 146,711,149 (GRCm39) E51V probably damaging Het
Cage1 G A 13: 38,209,626 (GRCm39) S11F probably damaging Het
Car15 T C 16: 17,653,299 (GRCm39) I289M probably damaging Het
Cdhr18 C T 14: 13,862,375 (GRCm38) S393N probably benign Het
Cfap100 A T 6: 90,390,376 (GRCm39) I242N probably damaging Het
Dst GAA GA 1: 34,290,809 (GRCm39) probably null Het
Epdr1 C A 13: 19,803,576 (GRCm39) V53F probably benign Het
Igfn1 A G 1: 135,895,844 (GRCm39) M1574T probably benign Het
Kat6a T C 8: 23,401,945 (GRCm39) I438T possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lrp6 A C 6: 134,483,321 (GRCm39) Y461* probably null Het
Mecom T A 3: 30,011,504 (GRCm39) E723V probably damaging Het
Nsd3 T A 8: 26,138,524 (GRCm39) I258N probably benign Het
Or10q12 T C 19: 13,746,315 (GRCm39) V203A probably benign Het
Or5k8 T A 16: 58,644,956 (GRCm39) M39L probably benign Het
Or8k32 A T 2: 86,368,764 (GRCm39) I165N possibly damaging Het
Rb1cc1 A G 1: 6,318,771 (GRCm39) D730G probably damaging Het
Sacs A G 14: 61,449,758 (GRCm39) R3935G probably damaging Het
Setd5 A G 6: 113,098,766 (GRCm39) K800E probably damaging Het
Slc26a4 G T 12: 31,579,475 (GRCm39) Q596K probably benign Het
Slc38a4 T A 15: 96,906,965 (GRCm39) N258Y possibly damaging Het
Sntb1 A G 15: 55,655,487 (GRCm39) I243T probably damaging Het
Sspo A G 6: 48,443,282 (GRCm39) S2051G probably null Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tgm2 G A 2: 157,966,221 (GRCm39) R478* probably null Het
Tgm6 T C 2: 129,985,525 (GRCm39) Y443H probably benign Het
Tor2a T A 2: 32,648,870 (GRCm39) D113E probably benign Het
Trio C A 15: 27,748,423 (GRCm39) E1266* probably null Het
Usp40 T C 1: 87,925,597 (GRCm39) I211V probably benign Het
Zfp791 C T 8: 85,840,235 (GRCm39) V11M probably damaging Het
Other mutations in Krtap4-7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5403:Krtap4-7 UTSW 11 99,534,540 (GRCm39) missense unknown
R6595:Krtap4-7 UTSW 11 99,534,560 (GRCm39) missense unknown
R8376:Krtap4-7 UTSW 11 99,534,753 (GRCm39) missense unknown
R8728:Krtap4-7 UTSW 11 99,534,788 (GRCm39) missense unknown
R8754:Krtap4-7 UTSW 11 99,534,667 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CGATATGACTCTGTATGCCCC -3'
(R):5'- ACCATGGTCAGCTCCTGTTG -3'

Sequencing Primer
(F):5'- GATATGACTCTGTATGCCCCTGTCG -3'
(R):5'- CTCAGTGCTGCCAGTCTGTG -3'
Posted On 2015-07-06