Incidental Mutation 'IGL01298:Krtap14'
ID73209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap14
Ensembl Gene ENSMUSG00000074928
Gene Namekeratin associated protein 14
SynonymsPmg1, mKAP13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL01298
Quality Score
Status
Chromosome16
Chromosomal Location88818667-88826145 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88825727 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 121 (H121Q)
Ref Sequence ENSEMBL: ENSMUSP00000139983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023648] [ENSMUST00000099562] [ENSMUST00000187823] [ENSMUST00000189774]
Predicted Effect probably benign
Transcript: ENSMUST00000023648
SMART Domains Protein: ENSMUSP00000023648
Gene: ENSMUSG00000022931

DomainStartEndE-ValueType
Pfam:PMG 1 126 1.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099562
AA Change: H32Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000136883
Gene: ENSMUSG00000074928
AA Change: H32Q

DomainStartEndE-ValueType
Pfam:PMG 1 67 5.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187823
SMART Domains Protein: ENSMUSP00000140888
Gene: ENSMUSG00000022931

DomainStartEndE-ValueType
Pfam:PMG 1 145 3.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189774
AA Change: H121Q

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139983
Gene: ENSMUSG00000074928
AA Change: H121Q

DomainStartEndE-ValueType
Pfam:PMG 1 166 1.3e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232467
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a G T 10: 75,333,492 W263C probably damaging Het
Agtpbp1 G A 13: 59,504,226 H424Y possibly damaging Het
Angpt2 T G 8: 18,710,528 N186T probably benign Het
Ank2 A G 3: 126,959,720 V304A possibly damaging Het
Atg3 T C 16: 45,171,673 M88T possibly damaging Het
Baz1a G T 12: 54,954,809 P142Q probably damaging Het
Btbd1 G T 7: 81,794,307 probably null Het
Cacnb3 T C 15: 98,639,853 Y70H probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cyp7a1 A T 4: 6,275,517 W19R probably damaging Het
Dock10 T A 1: 80,531,245 I1610F probably damaging Het
Gm11444 C A 11: 85,848,094 D58Y unknown Het
Gm7168 A T 17: 13,949,858 T496S probably benign Het
Gpc5 A G 14: 115,399,188 S428G probably benign Het
Haus8 T C 8: 71,253,113 E309G probably damaging Het
Ice1 A G 13: 70,604,904 L1021P possibly damaging Het
Nwd1 T C 8: 72,662,331 V170A probably benign Het
Olfr338 T A 2: 36,377,448 M224K probably benign Het
Olfr803 T C 10: 129,692,029 Y4C probably damaging Het
Olfr938 G A 9: 39,078,724 T7I possibly damaging Het
Pfpl T C 19: 12,428,673 M96T possibly damaging Het
Pramel5 A G 4: 144,271,162 probably benign Het
Proc T C 18: 32,123,552 N354S probably benign Het
Prss40 T G 1: 34,560,766 I47L probably benign Het
Tmprss7 T C 16: 45,664,175 R541G probably benign Het
Togaram2 T C 17: 71,716,513 V788A possibly damaging Het
Trbv19 T C 6: 41,178,904 Y70H probably damaging Het
Ttk C T 9: 83,865,142 S678L probably benign Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Other mutations in Krtap14
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4810001:Krtap14 UTSW 16 88825627 missense probably damaging 1.00
R1471:Krtap14 UTSW 16 88825627 missense probably damaging 1.00
R2392:Krtap14 UTSW 16 88825709 splice site probably null
R4927:Krtap14 UTSW 16 88826031 missense possibly damaging 0.90
R5339:Krtap14 UTSW 16 88825859 missense probably benign 0.05
Posted On2013-10-07