Incidental Mutation 'IGL01105:Krtap9-5'
ID 52302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap9-5
Ensembl Gene ENSMUSG00000078255
Gene Name keratin associated protein 9-5
Synonyms OTTMUSG00000002205
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01105
Quality Score
Status
Chromosome 11
Chromosomal Location 99839301-99840377 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99839459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 53 (I53M)
Ref Sequence ENSEMBL: ENSMUSP00000100673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105052]
AlphaFold A2A5X3
Predicted Effect unknown
Transcript: ENSMUST00000105052
AA Change: I53M
SMART Domains Protein: ENSMUSP00000100673
Gene: ENSMUSG00000078255
AA Change: I53M

DomainStartEndE-ValueType
internal_repeat_3 4 21 5.14e-6 PROSPERO
internal_repeat_2 5 26 9e-8 PROSPERO
low complexity region 37 48 N/A INTRINSIC
Pfam:Keratin_B2_2 52 94 2.7e-9 PFAM
Pfam:Keratin_B2_2 75 128 2e-5 PFAM
Pfam:Keratin_B2_2 125 169 1.7e-9 PFAM
Pfam:Keratin_B2_2 198 245 6.7e-9 PFAM
Pfam:Keratin_B2_2 241 288 1.1e-8 PFAM
Pfam:Keratin_B2_2 284 317 5.6e-7 PFAM
Pfam:Keratin_B2_2 313 357 1.5e-5 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,862,885 (GRCm39) V302E probably damaging Het
Ahcy T C 2: 154,909,281 (GRCm39) D86G probably benign Het
Antxr2 G T 5: 98,152,802 (GRCm39) probably benign Het
Cadps2 A G 6: 23,321,699 (GRCm39) probably benign Het
Cdhr4 C T 9: 107,873,060 (GRCm39) probably benign Het
Cdkn2c C T 4: 109,518,823 (GRCm39) V44I probably damaging Het
Chodl T C 16: 78,738,151 (GRCm39) Y40H probably damaging Het
Heatr3 A G 8: 88,888,521 (GRCm39) D391G probably benign Het
Hephl1 T C 9: 15,000,320 (GRCm39) T311A possibly damaging Het
Itpr1 G A 6: 108,358,294 (GRCm39) S620N probably benign Het
Kank1 T A 19: 25,401,680 (GRCm39) S1096T possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Limk2 G A 11: 3,305,475 (GRCm39) probably benign Het
Lrig2 G A 3: 104,371,484 (GRCm39) R382* probably null Het
Mamdc2 T A 19: 23,308,366 (GRCm39) D512V probably benign Het
Marchf1 A T 8: 66,871,529 (GRCm39) T353S possibly damaging Het
Mrc2 A G 11: 105,219,567 (GRCm39) D312G probably damaging Het
Myh9 C T 15: 77,665,678 (GRCm39) M627I probably benign Het
Nipa2 A T 7: 55,583,193 (GRCm39) I184N probably damaging Het
Npy1r A G 8: 67,157,428 (GRCm39) K246R probably benign Het
Pank4 C T 4: 155,056,922 (GRCm39) probably benign Het
Pcdh12 T A 18: 38,408,400 (GRCm39) E1035D probably damaging Het
Pias2 T A 18: 77,220,852 (GRCm39) D362E probably damaging Het
Pkd1l3 G T 8: 110,388,873 (GRCm39) V1872L possibly damaging Het
Postn T G 3: 54,270,131 (GRCm39) I70S probably damaging Het
Ppef2 A G 5: 92,397,055 (GRCm39) S107P possibly damaging Het
Prl3c1 T C 13: 27,386,408 (GRCm39) V131A probably benign Het
Qsox2 A G 2: 26,099,697 (GRCm39) V609A probably benign Het
Rhebl1 C A 15: 98,776,379 (GRCm39) E139D probably benign Het
Ryr3 A G 2: 112,582,150 (GRCm39) S2848P probably damaging Het
Scd2 T A 19: 44,286,497 (GRCm39) I109N probably benign Het
Sim1 A G 10: 50,857,630 (GRCm39) H460R probably damaging Het
Slc35f3 C A 8: 127,025,553 (GRCm39) P10Q probably damaging Het
Slf1 T C 13: 77,249,031 (GRCm39) probably benign Het
Stk10 G T 11: 32,527,740 (GRCm39) V163L probably benign Het
Tssk6 A G 8: 70,355,462 (GRCm39) T169A probably benign Het
Usp28 T A 9: 48,921,550 (GRCm39) V256E probably damaging Het
Vmn2r77 A T 7: 86,460,872 (GRCm39) I733F probably damaging Het
Other mutations in Krtap9-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Krtap9-5 APN 11 99,839,291 (GRCm39) unclassified probably benign
IGL01673:Krtap9-5 APN 11 99,840,377 (GRCm39) makesense probably null
IGL02931:Krtap9-5 APN 11 99,839,931 (GRCm39) missense unknown
IGL03340:Krtap9-5 APN 11 99,839,427 (GRCm39) missense possibly damaging 0.86
R0038:Krtap9-5 UTSW 11 99,839,428 (GRCm39) missense possibly damaging 0.86
R1067:Krtap9-5 UTSW 11 99,839,589 (GRCm39) missense unknown
R2051:Krtap9-5 UTSW 11 99,840,030 (GRCm39) missense unknown
R2102:Krtap9-5 UTSW 11 99,840,270 (GRCm39) missense unknown
R4689:Krtap9-5 UTSW 11 99,840,286 (GRCm39) missense unknown
R5076:Krtap9-5 UTSW 11 99,840,294 (GRCm39) missense unknown
R5807:Krtap9-5 UTSW 11 99,839,895 (GRCm39) missense unknown
R7468:Krtap9-5 UTSW 11 99,840,132 (GRCm39) missense unknown
R7485:Krtap9-5 UTSW 11 99,839,800 (GRCm39) missense unknown
R8876:Krtap9-5 UTSW 11 99,840,340 (GRCm39) missense unknown
R9727:Krtap9-5 UTSW 11 99,839,340 (GRCm39) missense possibly damaging 0.71
X0050:Krtap9-5 UTSW 11 99,839,767 (GRCm39) missense unknown
Posted On 2013-06-21