Incidental Mutation 'R8015:Krtap15-1'
ID 617148
Institutional Source Beutler Lab
Gene Symbol Krtap15-1
Ensembl Gene ENSMUSG00000022931
Gene Name keratin associated protein 15-1
Synonyms Krtap15, Pmg-2
MMRRC Submission 067455-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R8015 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 88625897-88626732 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88626097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 55 (T55A)
Ref Sequence ENSEMBL: ENSMUSP00000140888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023648] [ENSMUST00000099562] [ENSMUST00000187823] [ENSMUST00000189774]
AlphaFold Q9QZU5
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
SMART Domains Protein: ENSMUSP00000136883
Gene: ENSMUSG00000074928

DomainStartEndE-ValueType
Pfam:PMG 1 67 5.7e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000187823
AA Change: T55A

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140888
Gene: ENSMUSG00000022931
AA Change: T55A

DomainStartEndE-ValueType
Pfam:PMG 1 145 3.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189774
SMART Domains Protein: ENSMUSP00000139983
Gene: ENSMUSG00000074928

DomainStartEndE-ValueType
Pfam:PMG 1 166 1.3e-53 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alad A G 4: 62,430,159 (GRCm39) V121A probably damaging Het
Anapc2 T A 2: 25,174,688 (GRCm39) Y684N probably benign Het
Atp10a G T 7: 58,453,245 (GRCm39) R808L probably benign Het
Best2 A G 8: 85,735,983 (GRCm39) V317A probably damaging Het
Bmal2 T C 6: 146,722,088 (GRCm39) S220P probably damaging Het
Cacnb4 A G 2: 52,354,655 (GRCm39) L241P probably damaging Het
Col6a5 T C 9: 105,758,940 (GRCm39) T2089A possibly damaging Het
Cttnbp2 G C 6: 18,426,092 (GRCm39) A762G possibly damaging Het
Defb13 G T 8: 22,436,828 (GRCm39) V8F possibly damaging Het
Dpp6 C T 5: 27,022,808 (GRCm39) probably benign Het
Fat4 A G 3: 39,036,065 (GRCm39) D3239G possibly damaging Het
Hmcn1 T G 1: 150,474,062 (GRCm39) R4793S possibly damaging Het
Hspa1a T A 17: 35,189,625 (GRCm39) Q426L probably damaging Het
Hycc2 A G 1: 58,574,641 (GRCm39) V300A possibly damaging Het
Il20rb T A 9: 100,356,947 (GRCm39) Y61F probably damaging Het
Iqcn C T 8: 71,169,441 (GRCm39) S1177L probably benign Het
Itgb1 T A 8: 129,448,882 (GRCm39) V496D possibly damaging Het
Jakmip1 T C 5: 37,317,109 (GRCm39) S102P unknown Het
Jmjd8 T A 17: 26,048,302 (GRCm39) F108I probably damaging Het
Lce3d A T 3: 92,865,810 (GRCm39) probably benign Het
Lnpep C A 17: 17,766,761 (GRCm39) V702F probably damaging Het
Lox G A 18: 52,661,420 (GRCm39) A218V probably benign Het
Mcrs1 T A 15: 99,146,735 (GRCm39) K99* probably null Het
Mfsd8 G A 3: 40,801,270 (GRCm39) probably benign Het
Msto1 G T 3: 88,818,863 (GRCm39) P264Q probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Or2ad1 T C 13: 21,326,303 (GRCm39) D308G probably benign Het
Or5g25 G T 2: 85,478,136 (GRCm39) H176Q probably damaging Het
Pate2 A T 9: 35,581,814 (GRCm39) H36L probably damaging Het
Pate9 A G 9: 36,446,250 (GRCm39) V54A probably benign Het
Phf20l1 T G 15: 66,511,797 (GRCm39) N925K possibly damaging Het
Pnliprp2 G T 19: 58,754,714 (GRCm39) V253F probably damaging Het
Polr2b A G 5: 77,484,353 (GRCm39) D745G probably damaging Het
Ptdss1 T A 13: 67,111,407 (GRCm39) W158R possibly damaging Het
Rcn3 T A 7: 44,734,331 (GRCm39) I226F probably damaging Het
Rhbdl1 C G 17: 26,054,825 (GRCm39) V157L probably damaging Het
Slc30a2 A G 4: 134,074,761 (GRCm39) T173A probably benign Het
Spata16 A G 3: 26,721,808 (GRCm39) T110A probably benign Het
Specc1l A G 10: 75,076,902 (GRCm39) K53E probably benign Het
Speg G T 1: 75,392,065 (GRCm39) probably benign Het
Spta1 T A 1: 174,067,737 (GRCm39) C2055S probably damaging Het
Tex14 G A 11: 87,400,426 (GRCm39) R406Q probably benign Het
Tmem150b C T 7: 4,719,327 (GRCm39) G198S probably null Het
Tnfrsf14 T G 4: 155,011,118 (GRCm39) Q81P probably damaging Het
Txndc17 A G 11: 72,098,568 (GRCm39) K40R probably benign Het
Ube3a T A 7: 58,934,504 (GRCm39) V560E probably damaging Het
Vmn1r14 A G 6: 57,211,015 (GRCm39) M198V probably damaging Het
Vmn2r23 G A 6: 123,681,500 (GRCm39) S136N probably benign Het
Vmn2r31 C T 7: 7,387,199 (GRCm39) V791I probably damaging Het
Wdfy4 T C 14: 32,829,704 (GRCm39) Y984C Het
Zfp386 T G 12: 116,023,027 (GRCm39) D248E probably damaging Het
Other mutations in Krtap15-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Krtap15-1 APN 16 88,626,255 (GRCm39) missense probably benign 0.32
ANU23:Krtap15-1 UTSW 16 88,626,255 (GRCm39) missense probably benign 0.32
R4909:Krtap15-1 UTSW 16 88,626,253 (GRCm39) missense probably benign 0.32
R4924:Krtap15-1 UTSW 16 88,626,036 (GRCm39) missense probably damaging 1.00
R5033:Krtap15-1 UTSW 16 88,626,044 (GRCm39) missense probably damaging 1.00
R7251:Krtap15-1 UTSW 16 88,625,982 (GRCm39) splice site probably null
R7317:Krtap15-1 UTSW 16 88,626,193 (GRCm39) missense probably benign 0.14
R7393:Krtap15-1 UTSW 16 88,625,985 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ACTCACAGATTCACCGCTG -3'
(R):5'- AAGTTGGATCCACAGCCCTG -3'

Sequencing Primer
(F):5'- AGATTCACCGCTGCCACTC -3'
(R):5'- TGAGAGCGAATGCCAGAGCTTC -3'
Posted On 2020-01-23