Incidental Mutation 'IGL02324:Krtap16-1'
ID288400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap16-1
Ensembl Gene ENSMUSG00000078253
Gene Namekeratin associated protein 16-1
SynonymsAI450886
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02324
Quality Score
Status
Chromosome11
Chromosomal Location99984710-99986597 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 99986303 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 92 (V92M)
Ref Sequence ENSEMBL: ENSMUSP00000100671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105050]
Predicted Effect probably damaging
Transcript: ENSMUST00000105050
AA Change: V92M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100671
Gene: ENSMUSG00000078253
AA Change: V92M

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 45 92 3.4e-8 PFAM
Pfam:Keratin_B2_2 88 132 1.8e-11 PFAM
Pfam:Keratin_B2_2 142 191 1.6e-7 PFAM
Pfam:Keratin_B2_2 172 221 9.9e-9 PFAM
Pfam:Keratin_B2_2 198 246 8.2e-5 PFAM
Pfam:Keratin_B2_2 212 266 3.3e-4 PFAM
low complexity region 282 299 N/A INTRINSIC
low complexity region 330 350 N/A INTRINSIC
low complexity region 370 382 N/A INTRINSIC
low complexity region 489 500 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118454
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T A 3: 151,497,874 C124S probably damaging Het
Aldh1a7 T C 19: 20,727,004 N42S probably damaging Het
Arhgef1 T C 7: 24,923,815 L667P probably damaging Het
C1qb C A 4: 136,880,500 R184L possibly damaging Het
Cacna1s A G 1: 136,075,176 probably benign Het
Cdk20 A G 13: 64,437,920 E244G probably benign Het
Copg2 C A 6: 30,863,534 probably null Het
Cyp2d40 A T 15: 82,760,948 probably benign Het
Cyp2j6 A G 4: 96,525,933 I365T probably damaging Het
Dhx29 A G 13: 112,927,808 K6E probably damaging Het
Dpp10 T A 1: 123,367,802 T539S probably benign Het
Ehbp1 A T 11: 22,096,048 I542K probably damaging Het
Fat1 A G 8: 45,040,556 Y3913C probably damaging Het
Flt4 C T 11: 49,645,995 T1264I probably benign Het
Fmnl1 A G 11: 103,179,538 D51G probably damaging Het
Gm17093 A G 14: 44,518,350 T25A unknown Het
Gpatch2 A G 1: 187,225,739 E97G probably damaging Het
Hcn1 T C 13: 117,902,886 L446P unknown Het
Hpse2 A T 19: 42,931,599 L354I probably damaging Het
Hspa4 A G 11: 53,300,058 probably null Het
Med23 A T 10: 24,897,341 Q281L probably damaging Het
Megf8 T C 7: 25,340,448 S963P probably benign Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mycbp2 A G 14: 103,242,207 S1217P probably damaging Het
Myocd C A 11: 65,178,658 L785F probably benign Het
Nell2 T C 15: 95,229,101 T798A probably damaging Het
Nfat5 T C 8: 107,366,176 probably benign Het
Olfm5 T C 7: 104,154,095 probably null Het
Olfr385 A G 11: 73,589,255 V161A probably benign Het
P2ry1 A T 3: 61,003,778 N113Y possibly damaging Het
Pan3 A G 5: 147,530,123 probably null Het
Pappa A G 4: 65,196,808 R714G probably damaging Het
Plcd1 A G 9: 119,072,642 F579L probably damaging Het
Ptprb T C 10: 116,319,333 V664A probably benign Het
Slc27a5 T A 7: 12,997,560 Q168L probably benign Het
Spag8 T C 4: 43,651,781 E395G probably damaging Het
Stfa2l1 T C 16: 36,161,768 Y70H probably damaging Het
Taf2 T C 15: 55,028,376 N1017S probably benign Het
Tnfrsf25 C A 4: 152,119,322 Q296K probably damaging Het
Trpm3 T A 19: 22,698,779 I103N probably benign Het
Other mutations in Krtap16-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Krtap16-1 APN 11 99985731 nonsense probably null
IGL00578:Krtap16-1 APN 11 99985295 missense probably benign 0.00
R0200:Krtap16-1 UTSW 11 99985297 missense probably damaging 0.96
R0617:Krtap16-1 UTSW 11 99986495 missense probably damaging 1.00
R1699:Krtap16-1 UTSW 11 99986026 missense probably damaging 1.00
R1785:Krtap16-1 UTSW 11 99985776 nonsense probably null
R2130:Krtap16-1 UTSW 11 99985776 nonsense probably null
R2177:Krtap16-1 UTSW 11 99986449 missense probably damaging 0.99
R4455:Krtap16-1 UTSW 11 99985733 missense probably benign 0.44
R4716:Krtap16-1 UTSW 11 99985174 missense probably damaging 0.99
R5111:Krtap16-1 UTSW 11 99986552 missense possibly damaging 0.90
R5122:Krtap16-1 UTSW 11 99985697 missense probably damaging 0.96
R5254:Krtap16-1 UTSW 11 99985598 nonsense probably null
R5481:Krtap16-1 UTSW 11 99985327 missense probably damaging 0.98
R6557:Krtap16-1 UTSW 11 99985130 missense possibly damaging 0.90
R6884:Krtap16-1 UTSW 11 99986458 nonsense probably null
R7085:Krtap16-1 UTSW 11 99986285 missense possibly damaging 0.56
R7675:Krtap16-1 UTSW 11 99985433 missense possibly damaging 0.52
Z1176:Krtap16-1 UTSW 11 99985597 missense possibly damaging 0.95
Posted On2015-04-16