Incidental Mutation 'IGL00402:Krtap16-1'
ID306591
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: 0.080) question?
Stock #IGL00402
Quality Score
Status
Chromosome11
Chromosomal Location99984710-99986597 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 99985731 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 282 (C282*)
Ref Sequence ENSEMBL: ENSMUSP00000100671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105050]
Predicted Effect probably null
Transcript: ENSMUST00000105050
AA Change: C282*
SMART Domains Protein: ENSMUSP00000100671
Gene: ENSMUSG00000078253
AA Change: C282*

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,295,191 L846H probably benign Het
Abca6 A T 11: 110,184,709 L1319I probably damaging Het
Apob C T 12: 7,993,065 probably benign Het
Atg16l2 A C 7: 101,296,153 S268R probably benign Het
Atp1b3 T C 9: 96,333,703 probably benign Het
Atxn7 T G 14: 14,096,324 probably benign Het
Birc6 G A 17: 74,573,563 probably benign Het
C330027C09Rik T A 16: 49,001,815 H234Q probably damaging Het
C4b G A 17: 34,734,428 T1027I probably damaging Het
Caskin1 T C 17: 24,503,889 I577T probably damaging Het
Cbx6 A G 15: 79,828,929 V99A possibly damaging Het
Ccr9 A C 9: 123,780,044 I252L probably benign Het
Cdh8 A T 8: 99,279,690 D88E probably damaging Het
Cep135 T C 5: 76,601,459 S258P probably damaging Het
Cep57l1 T G 10: 41,721,551 probably benign Het
Col12a1 T C 9: 79,681,537 T1099A possibly damaging Het
Col4a4 C T 1: 82,491,641 G802D unknown Het
Ddx41 T C 13: 55,531,399 T545A probably damaging Het
Disc1 A T 8: 125,088,275 T293S probably benign Het
Fam13b A T 18: 34,454,718 V509D probably damaging Het
Ffar4 C T 19: 38,107,389 P192L probably benign Het
Fn1 C A 1: 71,641,163 C461F probably damaging Het
Gm14226 G T 2: 155,025,158 S345I probably damaging Het
Gopc T C 10: 52,349,230 K308E probably damaging Het
Hapln2 A T 3: 88,024,334 N28K possibly damaging Het
Hectd1 T C 12: 51,769,108 S1394G possibly damaging Het
Hectd1 T C 12: 51,759,432 H1807R probably benign Het
Ifnl2 A T 7: 28,508,865 V193D possibly damaging Het
Il1rap T A 16: 26,722,401 M464K possibly damaging Het
Ltv1 C T 10: 13,190,583 V100I probably benign Het
Mcf2l T C 8: 13,000,857 S308P probably damaging Het
Narf G A 11: 121,238,518 probably null Het
Nmd3 T A 3: 69,745,240 N386K possibly damaging Het
Noxo1 C T 17: 24,698,936 probably benign Het
Olfr390 T A 11: 73,787,580 I214N probably damaging Het
Ppic C T 18: 53,409,294 G114D probably damaging Het
Ppp4r1 T C 17: 65,816,019 S339P probably benign Het
Ptprg T A 14: 12,215,992 L1147Q probably damaging Het
Qser1 A G 2: 104,786,981 V1072A probably benign Het
Rad54l2 T A 9: 106,700,561 M1054L probably benign Het
Scara5 A C 14: 65,738,415 probably benign Het
Smtnl2 C T 11: 72,403,259 probably benign Het
Spink8 A T 9: 109,819,219 I25F probably benign Het
Vit G A 17: 78,601,907 probably null Het
Vps13b A G 15: 35,926,226 D3891G possibly damaging Het
Zfp207 T A 11: 80,393,085 M277K probably benign Het
Zp2 T C 7: 120,133,400 D641G probably benign Het
Other mutations in Krtap16-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Krtap16-1 APN 11 99985295 missense probably benign 0.00
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 On2015-04-16