Incidental Mutation 'R8728:Krtap4-7'
ID 662592
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 068576-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8728 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 99533938-99534915 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 99534788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 25 (C25S)
Ref Sequence ENSEMBL: ENSMUSP00000053711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055121]
AlphaFold Q9D732
Predicted Effect unknown
Transcript: ENSMUST00000055121
AA Change: C25S
SMART Domains Protein: ENSMUSP00000053711
Gene: ENSMUSG00000045109
AA Change: C25S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A G 14: 66,295,086 (GRCm39) L253P probably damaging Het
Adamts20 C T 15: 94,229,281 (GRCm39) G946D probably benign Het
Afdn A G 17: 14,119,207 (GRCm39) R1648G probably damaging Het
Ak9 G A 10: 41,282,959 (GRCm39) A1242T Het
Anxa9 T C 3: 95,209,979 (GRCm39) K127E probably damaging Het
Atp6v0a2 T C 5: 124,796,152 (GRCm39) S739P probably benign Het
Bloc1s6 A T 2: 122,588,026 (GRCm39) M122L possibly damaging Het
Bltp3b A T 10: 89,618,582 (GRCm39) M274L probably benign Het
Bms1 A G 6: 118,369,331 (GRCm39) I990T possibly damaging Het
Ccdc9b T C 2: 118,587,793 (GRCm39) T514A probably benign Het
Cdk14 G A 5: 5,470,117 (GRCm39) silent Het
Celsr3 T C 9: 108,723,940 (GRCm39) L2899S probably benign Het
Ces1b A T 8: 93,798,576 (GRCm39) D203E probably benign Het
Cnnm1 A G 19: 43,473,365 (GRCm39) N753S probably benign Het
Col19a1 C T 1: 24,365,113 (GRCm39) G501R probably damaging Het
Cym A G 3: 107,125,991 (GRCm39) F91L possibly damaging Het
Cyp2c67 T G 19: 39,614,605 (GRCm39) R307S probably damaging Het
Cyp3a59 G A 5: 146,035,122 (GRCm39) probably null Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Dagla G A 19: 10,225,771 (GRCm39) R798C probably damaging Het
Dcaf1 C T 9: 106,724,005 (GRCm39) R478C possibly damaging Het
Dcbld1 T C 10: 52,109,929 (GRCm39) L28P probably benign Het
Ddr2 T C 1: 169,829,552 (GRCm39) D234G possibly damaging Het
Fam83a T A 15: 57,873,062 (GRCm39) M297K possibly damaging Het
Galnt18 T A 7: 111,119,243 (GRCm39) D426V probably damaging Het
Gm29735 ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA 7: 141,710,266 (GRCm39) probably benign Het
Gm43302 T C 5: 105,438,793 (GRCm39) I32V probably benign Het
Gm9944 T C 4: 144,179,601 (GRCm39) Y96C unknown Het
Hdac1-ps A G 17: 78,800,332 (GRCm39) K441R probably benign Het
Impdh2 C T 9: 108,437,562 (GRCm39) probably benign Het
Iws1 G A 18: 32,216,334 (GRCm39) R358Q probably damaging Het
Kctd18 G T 1: 58,002,289 (GRCm39) D179E probably damaging Het
Krt13 T G 11: 100,012,318 (GRCm39) S2R probably null Het
Krt78 A T 15: 101,856,225 (GRCm39) S529T probably benign Het
Lama1 T C 17: 68,125,663 (GRCm39) I2940T Het
Lmnb2 A G 10: 80,740,913 (GRCm39) probably null Het
Lrrc27 A T 7: 138,822,555 (GRCm39) E482V probably damaging Het
Lrrc72 G A 12: 36,258,656 (GRCm39) T67M probably benign Het
Malrd1 T A 2: 15,701,753 (GRCm39) C789* probably null Het
Mei1 T G 15: 81,966,182 (GRCm39) V268G Het
Mical3 C A 6: 120,950,514 (GRCm39) A966S probably damaging Het
Mmp10 C T 9: 7,502,480 (GRCm39) P29L probably benign Het
Mroh2b T C 15: 4,935,122 (GRCm39) F186L probably damaging Het
Muc4 A T 16: 32,754,952 (GRCm38) T1609S unknown Het
Myrfl A T 10: 116,634,545 (GRCm39) C616* probably null Het
Ncor1 C T 11: 62,221,685 (GRCm39) A946T probably benign Het
Or10al6 C A 17: 38,082,642 (GRCm39) L33M probably damaging Het
Or2t48 T C 11: 58,420,027 (GRCm39) T262A probably benign Het
Pbp2 T C 6: 135,287,104 (GRCm39) Y81C probably benign Het
Plekhh1 C A 12: 79,115,862 (GRCm39) Q802K possibly damaging Het
Pnldc1 A T 17: 13,116,165 (GRCm39) F279Y probably damaging Het
Psmb5 A T 14: 54,855,261 (GRCm39) L63Q probably damaging Het
Rasa3 C T 8: 13,636,873 (GRCm39) probably null Het
Rbm4b G A 19: 4,812,219 (GRCm39) M209I probably benign Het
Rnf38 A G 4: 44,131,615 (GRCm39) S421P probably benign Het
Sema5a T C 15: 32,562,703 (GRCm39) V238A probably damaging Het
Sesn1 G T 10: 41,779,771 (GRCm39) G402W probably damaging Het
Six4 A G 12: 73,159,180 (GRCm39) V260A probably benign Het
Srrm2 G A 17: 24,038,831 (GRCm39) R1825Q unknown Het
Stat1 G A 1: 52,178,353 (GRCm39) W262* probably null Het
Tcf20 A T 15: 82,739,158 (GRCm39) D764E probably damaging Het
Tgm2 T C 2: 157,962,065 (GRCm39) N585D probably benign Het
Tmf1 A T 6: 97,133,821 (GRCm39) L1039H probably damaging Het
Trak2 A G 1: 58,974,934 (GRCm39) V86A probably benign Het
Ttc39b A G 4: 83,171,247 (GRCm39) I202T probably damaging Het
Vmn1r30 A G 6: 58,412,460 (GRCm39) F124S probably benign Het
Vwa7 T A 17: 35,236,133 (GRCm39) F29Y probably damaging Het
Wdr64 A T 1: 175,559,079 (GRCm39) M281L probably benign Het
Zfand2a C T 5: 139,467,753 (GRCm39) V40M possibly damaging Het
Zfp865 G C 7: 5,034,819 (GRCm39) A935P probably damaging Het
Other mutations in Krtap4-7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4370:Krtap4-7 UTSW 11 99,534,543 (GRCm39) missense unknown
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
R8754:Krtap4-7 UTSW 11 99,534,667 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CACAAGATGGTTGGCAGCAG -3'
(R):5'- CACTTGCTGAGCAGAGTATAAAAG -3'

Sequencing Primer
(F):5'- CTGGAGATGCAGCAGCTG -3'
(R):5'- GGGAATACCAGCCCGGAGAC -3'
Posted On 2021-03-08