Incidental Mutation 'IGL03326:Krtap5-2'
ID416640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap5-2
Ensembl Gene ENSMUSG00000054759
Gene Namekeratin associated protein 5-2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL03326
Quality Score
Status
Chromosome7
Chromosomal Location142174535-142176005 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 142175363 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 193 (C193*)
Ref Sequence ENSEMBL: ENSMUSP00000140784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067978] [ENSMUST00000190456]
Predicted Effect probably benign
Transcript: ENSMUST00000067978
SMART Domains Protein: ENSMUSP00000070557
Gene: ENSMUSG00000054759

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 129 173 4.4e-10 PFAM
Pfam:Keratin_B2_2 144 188 1.8e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000190456
AA Change: C193*
SMART Domains Protein: ENSMUSP00000140784
Gene: ENSMUSG00000054759
AA Change: C193*

DomainStartEndE-ValueType
low complexity region 2 358 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,127,421 S563P probably damaging Het
Adamtsl1 A T 4: 86,252,748 probably benign Het
Ampd2 T A 3: 108,079,287 Y227F probably benign Het
Cyp2c67 A T 19: 39,643,269 probably null Het
Gk5 G A 9: 96,137,839 probably null Het
Gm20422 T C 8: 69,766,698 T59A possibly damaging Het
Gria1 A T 11: 57,317,773 K831N probably damaging Het
Hspa5 C A 2: 34,776,117 probably benign Het
Igtp A G 11: 58,206,228 D75G probably benign Het
Jmjd8 T C 17: 25,829,165 probably null Het
Kcnh2 A T 5: 24,326,413 F158Y probably damaging Het
Kmt2a A T 9: 44,818,747 C456* probably null Het
Mrpl2 T C 17: 46,649,927 V249A possibly damaging Het
Obscn A T 11: 59,032,902 I6433N probably damaging Het
Olfr1137 A C 2: 87,711,695 D70E probably damaging Het
Olfr243 T A 7: 103,716,862 F89L probably benign Het
Olfr487 T C 7: 108,211,630 I300V probably benign Het
Plb1 C T 5: 32,331,327 T985I probably benign Het
Polr3b T C 10: 84,667,395 I392T probably benign Het
Ppp1r1c A T 2: 79,808,383 N107I probably benign Het
Ppp1r3a C T 6: 14,719,766 R383Q probably damaging Het
Ptpre T C 7: 135,672,817 I499T probably damaging Het
Rapgef2 A G 3: 79,091,833 I544T probably damaging Het
Rbm20 A T 19: 53,814,000 Q313L possibly damaging Het
Rnf38 A T 4: 44,149,182 I55N probably benign Het
Rtel1 T C 2: 181,355,561 probably benign Het
Scube1 T C 15: 83,607,416 Y959C probably damaging Het
Selenow A G 7: 15,920,126 probably benign Het
Tbx5 T C 5: 119,871,298 Y291H probably damaging Het
Tln2 A T 9: 67,334,257 M1022K possibly damaging Het
Tmtc4 G A 14: 122,945,540 R249W probably damaging Het
Trim34a A G 7: 104,261,380 Q463R probably benign Het
Vps35 C A 8: 85,274,897 E431* probably null Het
Wdpcp T C 11: 21,885,048 C684R probably benign Het
Xirp2 G A 2: 67,482,246 V20I probably benign Het
Other mutations in Krtap5-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Krtap5-2 APN 7 142175722 nonsense probably null
IGL02064:Krtap5-2 APN 7 142175731 missense unknown
IGL03214:Krtap5-2 APN 7 142175014 missense unknown
R1196:Krtap5-2 UTSW 7 142174883 nonsense probably null
R2327:Krtap5-2 UTSW 7 142175011 missense unknown
R5166:Krtap5-2 UTSW 7 142174984 missense unknown
R5723:Krtap5-2 UTSW 7 142175005 missense unknown
R6356:Krtap5-2 UTSW 7 142175382 intron probably benign
R6364:Krtap5-2 UTSW 7 142175063 nonsense probably null
R6593:Krtap5-2 UTSW 7 142174960 missense unknown
R7193:Krtap5-2 UTSW 7 142175243 small deletion probably benign
R7740:Krtap5-2 UTSW 7 142174962 missense unknown
R7748:Krtap5-2 UTSW 7 142175108 critical splice acceptor site probably benign
R7753:Krtap5-2 UTSW 7 142175399 small deletion probably benign
Posted On2016-08-02