Incidental Mutation 'IGL00578:Krtap16-1'
ID332686
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 #IGL00578
Quality Score
Status
Chromosome11
Chromosomal Location99984710-99986597 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99985295 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 428 (S428P)
Ref Sequence ENSEMBL: ENSMUSP00000100671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105050]
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: 5,871,787 T729A possibly damaging Het
Ank3 C A 10: 70,002,394 S864Y possibly damaging Het
Ankrd44 G A 1: 54,662,647 probably benign Het
Atp11c C T X: 60,240,817 G996R probably damaging Het
AW549877 C A 15: 3,988,636 G186C probably damaging Het
Col11a1 A G 3: 114,194,106 T250A possibly damaging Het
Cox8a T A 19: 7,215,405 Y65F probably damaging Het
Ctnnd1 G T 2: 84,609,625 N451K probably damaging Het
D630045J12Rik T C 6: 38,194,930 T768A probably benign Het
Esyt1 A G 10: 128,511,743 S999P probably damaging Het
Fyco1 A G 9: 123,838,897 I88T probably damaging Het
Kdm2b A G 5: 122,961,567 V103A probably damaging Het
Klk1b26 T C 7: 44,016,885 S251P probably benign Het
Lrp1b C T 2: 40,679,173 V210I unknown Het
Mapk8ip3 A T 17: 24,900,819 D1018E probably damaging Het
Nxph2 T A 2: 23,400,322 C229S probably damaging Het
Prickle1 A G 15: 93,500,781 L722P probably benign Het
Rbm12 A T 2: 156,096,041 probably benign Het
Sfpq T C 4: 127,025,907 Y482H probably damaging Het
Sycp2 T C 2: 178,350,822 probably benign Het
Unc5b A G 10: 60,767,055 I866T probably damaging Het
Other mutations in Krtap16-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Krtap16-1 APN 11 99985731 nonsense probably null
IGL02324:Krtap16-1 APN 11 99986303 missense probably damaging 0.99
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 On2015-08-05