Incidental Mutation 'IGL02324:Krtap16-1'
ID 288400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap16-1
Ensembl Gene ENSMUSG00000078253
Gene Name keratin associated protein 16-1
Synonyms AI450886
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02324
Quality Score
Status
Chromosome 11
Chromosomal Location 99875536-99877423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99877129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 92 (V92M)
Ref Sequence ENSEMBL: ENSMUSP00000100671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105050]
AlphaFold A2A5X5
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: 151,203,511 (GRCm39) C124S probably damaging Het
Aldh1a7 T C 19: 20,704,368 (GRCm39) N42S probably damaging Het
Arhgef1 T C 7: 24,623,240 (GRCm39) L667P probably damaging Het
C1qb C A 4: 136,607,811 (GRCm39) R184L possibly damaging Het
Cacna1s A G 1: 136,002,914 (GRCm39) probably benign Het
Cdk20 A G 13: 64,585,734 (GRCm39) E244G probably benign Het
Copg2 C A 6: 30,840,469 (GRCm39) probably null Het
Cyp2d40 A T 15: 82,645,149 (GRCm39) probably benign Het
Cyp2j6 A G 4: 96,414,170 (GRCm39) I365T probably damaging Het
Dhx29 A G 13: 113,064,342 (GRCm39) K6E probably damaging Het
Dpp10 T A 1: 123,295,531 (GRCm39) T539S probably benign Het
Ehbp1 A T 11: 22,046,048 (GRCm39) I542K probably damaging Het
Fat1 A G 8: 45,493,593 (GRCm39) Y3913C probably damaging Het
Flt4 C T 11: 49,536,822 (GRCm39) T1264I probably benign Het
Fmnl1 A G 11: 103,070,364 (GRCm39) D51G probably damaging Het
Gm17093 A G 14: 44,755,807 (GRCm39) T25A unknown Het
Gpatch2 A G 1: 186,957,936 (GRCm39) E97G probably damaging Het
Hcn1 T C 13: 118,039,422 (GRCm39) L446P unknown Het
Hpse2 A T 19: 42,920,038 (GRCm39) L354I probably damaging Het
Hspa4 A G 11: 53,190,885 (GRCm39) probably null Het
Med23 A T 10: 24,773,239 (GRCm39) Q281L probably damaging Het
Megf8 T C 7: 25,039,873 (GRCm39) S963P probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mycbp2 A G 14: 103,479,643 (GRCm39) S1217P probably damaging Het
Myocd C A 11: 65,069,484 (GRCm39) L785F probably benign Het
Nell2 T C 15: 95,126,982 (GRCm39) T798A probably damaging Het
Nfat5 T C 8: 108,092,808 (GRCm39) probably benign Het
Olfm5 T C 7: 103,803,302 (GRCm39) probably null Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
P2ry1 A T 3: 60,911,199 (GRCm39) N113Y possibly damaging Het
Pan3 A G 5: 147,466,933 (GRCm39) probably null Het
Pappa A G 4: 65,115,045 (GRCm39) R714G probably damaging Het
Plcd1 A G 9: 118,901,710 (GRCm39) F579L probably damaging Het
Ptprb T C 10: 116,155,238 (GRCm39) V664A probably benign Het
Slc27a5 T A 7: 12,731,487 (GRCm39) Q168L probably benign Het
Spag8 T C 4: 43,651,781 (GRCm39) E395G probably damaging Het
Stfa2l1 T C 16: 35,982,138 (GRCm39) Y70H probably damaging Het
Taf2 T C 15: 54,891,772 (GRCm39) N1017S probably benign Het
Tnfrsf25 C A 4: 152,203,779 (GRCm39) Q296K probably damaging Het
Trpm3 T A 19: 22,676,143 (GRCm39) I103N probably benign Het
Other mutations in Krtap16-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Krtap16-1 APN 11 99,876,557 (GRCm39) nonsense probably null
IGL00578:Krtap16-1 APN 11 99,876,121 (GRCm39) missense probably benign 0.00
R0200:Krtap16-1 UTSW 11 99,876,123 (GRCm39) missense probably damaging 0.96
R0617:Krtap16-1 UTSW 11 99,877,321 (GRCm39) missense probably damaging 1.00
R1699:Krtap16-1 UTSW 11 99,876,852 (GRCm39) missense probably damaging 1.00
R1785:Krtap16-1 UTSW 11 99,876,602 (GRCm39) nonsense probably null
R2130:Krtap16-1 UTSW 11 99,876,602 (GRCm39) nonsense probably null
R2177:Krtap16-1 UTSW 11 99,877,275 (GRCm39) missense probably damaging 0.99
R4455:Krtap16-1 UTSW 11 99,876,559 (GRCm39) missense probably benign 0.44
R4716:Krtap16-1 UTSW 11 99,876,000 (GRCm39) missense probably damaging 0.99
R5111:Krtap16-1 UTSW 11 99,877,378 (GRCm39) missense possibly damaging 0.90
R5122:Krtap16-1 UTSW 11 99,876,523 (GRCm39) missense probably damaging 0.96
R5254:Krtap16-1 UTSW 11 99,876,424 (GRCm39) nonsense probably null
R5481:Krtap16-1 UTSW 11 99,876,153 (GRCm39) missense probably damaging 0.98
R6557:Krtap16-1 UTSW 11 99,875,956 (GRCm39) missense possibly damaging 0.90
R6884:Krtap16-1 UTSW 11 99,877,284 (GRCm39) nonsense probably null
R7085:Krtap16-1 UTSW 11 99,877,111 (GRCm39) missense possibly damaging 0.56
R7675:Krtap16-1 UTSW 11 99,876,259 (GRCm39) missense possibly damaging 0.52
R8517:Krtap16-1 UTSW 11 99,876,524 (GRCm39) nonsense probably null
R8903:Krtap16-1 UTSW 11 99,877,170 (GRCm39) missense probably damaging 0.96
R9047:Krtap16-1 UTSW 11 99,877,167 (GRCm39) missense probably damaging 1.00
R9110:Krtap16-1 UTSW 11 99,877,386 (GRCm39) missense probably benign 0.02
R9223:Krtap16-1 UTSW 11 99,876,071 (GRCm39) missense probably benign 0.02
R9243:Krtap16-1 UTSW 11 99,876,644 (GRCm39) nonsense probably null
R9262:Krtap16-1 UTSW 11 99,876,994 (GRCm39) missense probably benign 0.00
Z1176:Krtap16-1 UTSW 11 99,876,423 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16