Incidental Mutation 'R5111:Krtap16-1'
ID 393870
Institutional Source Beutler Lab
Gene Symbol Krtap16-1
Ensembl Gene ENSMUSG00000078253
Gene Name keratin associated protein 16-1
Synonyms AI450886
MMRRC Submission 042699-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5111 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 99875536-99877423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99877378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 9 (K9E)
Ref Sequence ENSEMBL: ENSMUSP00000100671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105050]
AlphaFold A2A5X5
Predicted Effect possibly damaging
Transcript: ENSMUST00000105050
AA Change: K9E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100671
Gene: ENSMUSG00000078253
AA Change: K9E

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
Meta Mutation Damage Score 0.0742 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 83,800,646 (GRCm39) L136* probably null Het
Ankrd17 A T 5: 90,390,858 (GRCm39) S2271T possibly damaging Het
Arhgef10 A G 8: 14,982,408 (GRCm39) D179G probably benign Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Btbd3 T A 2: 138,120,829 (GRCm39) M1K probably null Het
Capns1 A G 7: 29,891,944 (GRCm39) V106A probably benign Het
Ccnjl A G 11: 43,447,544 (GRCm39) T76A probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Col6a6 C T 9: 105,586,673 (GRCm39) V1783I possibly damaging Het
Crisp3 T C 17: 40,536,695 (GRCm39) T207A possibly damaging Het
Crxos G A 7: 15,630,142 (GRCm39) probably benign Het
Csf3r T C 4: 125,923,861 (GRCm39) probably null Het
Cyp2a12 A G 7: 26,736,046 (GRCm39) Y485C possibly damaging Het
Echdc2 A T 4: 108,026,994 (GRCm39) probably benign Het
Elp3 A C 14: 65,797,685 (GRCm39) Y329D probably damaging Het
Fbxw16 T C 9: 109,265,796 (GRCm39) D341G probably benign Het
H2-Ab1 T A 17: 34,486,456 (GRCm39) S172T probably damaging Het
Hyal2 T C 9: 107,448,310 (GRCm39) V321A probably benign Het
Ighv6-3 A T 12: 114,355,394 (GRCm39) S98R probably benign Het
Kank3 A G 17: 34,037,155 (GRCm39) E153G possibly damaging Het
Klrb1c C T 6: 128,762,968 (GRCm39) R83H probably benign Het
Liph G A 16: 21,802,820 (GRCm39) S83F probably damaging Het
Lnpep A G 17: 17,798,872 (GRCm39) I261T possibly damaging Het
Mdm2 A T 10: 117,527,126 (GRCm39) V273D possibly damaging Het
Mterf1a A G 5: 3,941,860 (GRCm39) S3P probably benign Het
Myt1 A G 2: 181,437,678 (GRCm39) T172A probably benign Het
Nufip2 T A 11: 77,582,669 (GRCm39) S194R probably benign Het
Nusap1 T A 2: 119,460,837 (GRCm39) L110* probably null Het
Palb2 A T 7: 121,716,528 (GRCm39) C488* probably null Het
Pcdhac1 A T 18: 37,224,558 (GRCm39) N457I probably damaging Het
Per1 A T 11: 68,991,612 (GRCm39) S49C probably damaging Het
Ppargc1b A T 18: 61,443,558 (GRCm39) I535N probably damaging Het
Rb1cc1 T C 1: 6,284,858 (GRCm39) probably benign Het
Rpap1 A T 2: 119,601,728 (GRCm39) L744Q probably damaging Het
Sdk1 A G 5: 142,113,600 (GRCm39) E1549G probably damaging Het
Tnr C T 1: 159,713,798 (GRCm39) T742I probably benign Het
Trp53bp1 A T 2: 121,041,868 (GRCm39) H1229Q probably damaging Het
Unc80 A G 1: 66,567,154 (GRCm39) H920R possibly damaging Het
Urb1 A C 16: 90,548,905 (GRCm39) S2268A probably benign Het
Usp32 A T 11: 84,968,157 (GRCm39) Y169N possibly damaging Het
Vmn2r18 A T 5: 151,485,913 (GRCm39) M527K possibly damaging Het
Vmn2r93 A T 17: 18,546,326 (GRCm39) I733F probably damaging Het
Vstm2l A G 2: 157,777,389 (GRCm39) D89G probably damaging Het
Zdhhc8 G T 16: 18,044,612 (GRCm39) Q303K probably benign Het
Zfand2a A G 5: 139,459,509 (GRCm39) V159A probably benign Het
Zswim6 A G 13: 107,865,170 (GRCm39) noncoding transcript 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
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
Predicted Primers PCR Primer
(F):5'- CTCACAGAACAAGAGGGCTC -3'
(R):5'- TAAGATGTTCCTCCAGAAACAGG -3'

Sequencing Primer
(F):5'- AGGGCTCACAAATGGTAGCCTC -3'
(R):5'- CAGGGCCCAAACAACAATGAGG -3'
Posted On 2016-06-15