Incidental Mutation 'R6557:Krtap16-1'
ID 521915
Institutional Source Beutler Lab
Gene Symbol Krtap16-1
Ensembl Gene ENSMUSG00000078253
Gene Name keratin associated protein 16-1
Synonyms AI450886
MMRRC Submission 044681-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6557 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 99875536-99877423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99875956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 483 (S483G)
Ref Sequence ENSEMBL: ENSMUSP00000100671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105050]
AlphaFold A2A5X5
Predicted Effect possibly damaging
Transcript: ENSMUST00000105050
AA Change: S483G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100671
Gene: ENSMUSG00000078253
AA Change: S483G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccn3 A T 15: 54,611,323 (GRCm39) R153* probably null Het
Cxcl15 C T 5: 90,942,425 (GRCm39) probably benign Het
Dysf A G 6: 84,163,366 (GRCm39) D1580G probably damaging Het
Gpc5 A T 14: 115,329,966 (GRCm39) probably benign Het
Greb1 T C 12: 16,760,384 (GRCm39) I575V probably benign Het
Hecw1 T C 13: 14,491,231 (GRCm39) E174G possibly damaging Het
Hip1 T C 5: 135,457,573 (GRCm39) D300G possibly damaging Het
Ica1l T C 1: 60,036,784 (GRCm39) T336A probably benign Het
Ikzf3 C T 11: 98,407,707 (GRCm39) A45T probably benign Het
Lamb2 T C 9: 108,365,599 (GRCm39) L1394P probably damaging Het
Liph T A 16: 21,802,670 (GRCm39) E133V possibly damaging Het
Mamdc2 A G 19: 23,288,209 (GRCm39) S610P possibly damaging Het
Map10 T C 8: 126,396,991 (GRCm39) V128A probably damaging Het
Mon2 C A 10: 122,852,307 (GRCm39) C1022F probably damaging Het
Nfatc3 T C 8: 106,845,986 (GRCm39) S1039P probably benign Het
Or4f52 T C 2: 111,061,976 (GRCm39) H54R probably benign Het
Scaper T C 9: 55,458,134 (GRCm39) N879S probably benign Het
Sec24d T C 3: 123,136,736 (GRCm39) Y490H probably damaging Het
Tdrd5 T C 1: 156,128,291 (GRCm39) K137R probably benign Het
Topaz1 A G 9: 122,577,960 (GRCm39) N290S probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfp638 C A 6: 83,907,092 (GRCm39) P419Q probably damaging Het
Zzz3 T A 3: 152,134,097 (GRCm39) L385Q probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CATAAGCAAGTGGTGTCTGGC -3'
(R):5'- TGCTATTCCATACTACGCCG -3'

Sequencing Primer
(F):5'- CAGTGTTGAGTGAACAAGATTCTAGC -3'
(R):5'- GCCCGACCTGCCTAGCTTC -3'
Posted On 2018-06-06