Incidental Mutation 'IGL00578:Krtap16-1'
ID 332686
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 # IGL00578
Quality Score
Status
Chromosome 11
Chromosomal Location 99875536-99877423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99876121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 428 (S428P)
Ref Sequence ENSEMBL: ENSMUSP00000100671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105050]
AlphaFold A2A5X5
Predicted Effect probably benign
Transcript: ENSMUST00000105050
AA Change: S428P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000100671
Gene: ENSMUSG00000078253
AA Change: S428P

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,821,787 (GRCm39) T729A possibly damaging Het
Ank3 C A 10: 69,838,224 (GRCm39) S864Y possibly damaging Het
Ankrd44 G A 1: 54,701,806 (GRCm39) probably benign Het
Atp11c C T X: 59,286,177 (GRCm39) G996R probably damaging Het
Col11a1 A G 3: 113,987,755 (GRCm39) T250A possibly damaging Het
Cox8a T A 19: 7,192,770 (GRCm39) Y65F probably damaging Het
Ctnnd1 G T 2: 84,439,969 (GRCm39) N451K probably damaging Het
D630045J12Rik T C 6: 38,171,865 (GRCm39) T768A probably benign Het
Esyt1 A G 10: 128,347,612 (GRCm39) S999P probably damaging Het
Fyco1 A G 9: 123,667,962 (GRCm39) I88T probably damaging Het
Kdm2b A G 5: 123,099,630 (GRCm39) V103A probably damaging Het
Klk1b26 T C 7: 43,666,309 (GRCm39) S251P probably benign Het
Lrp1b C T 2: 40,569,185 (GRCm39) V210I unknown Het
Mapk8ip3 A T 17: 25,119,793 (GRCm39) D1018E probably damaging Het
Nxph2 T A 2: 23,290,334 (GRCm39) C229S probably damaging Het
Prickle1 A G 15: 93,398,662 (GRCm39) L722P probably benign Het
Rbm12 A T 2: 155,937,961 (GRCm39) probably benign Het
Rimoc1 C A 15: 4,018,118 (GRCm39) G186C probably damaging Het
Sfpq T C 4: 126,919,700 (GRCm39) Y482H probably damaging Het
Sycp2 T C 2: 177,992,615 (GRCm39) probably benign Het
Unc5b A G 10: 60,602,834 (GRCm39) I866T probably damaging Het
Other mutations in Krtap16-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Krtap16-1 APN 11 99,876,557 (GRCm39) nonsense probably null
IGL02324:Krtap16-1 APN 11 99,877,129 (GRCm39) missense probably damaging 0.99
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 2015-08-05