Incidental Mutation 'R2317:Esp16'
ID 245541
Institutional Source Beutler Lab
Gene Symbol Esp16
Ensembl Gene ENSMUSG00000096345
Gene Name exocrine gland secreted peptide 16
Synonyms Gm4345
MMRRC Submission 040312-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.353) question?
Stock # R2317 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 39847033-39851738 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39850738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 39 (N39S)
Ref Sequence ENSEMBL: ENSMUSP00000136148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178037]
AlphaFold A8R0U9
Predicted Effect probably benign
Transcript: ENSMUST00000178037
AA Change: N39S

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000136148
Gene: ENSMUSG00000096345
AA Change: N39S

DomainStartEndE-ValueType
Pfam:ESP 24 72 3.8e-10 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc102a T C 8: 95,634,957 (GRCm39) D327G probably null Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cfap126 A G 1: 170,953,700 (GRCm39) D134G possibly damaging Het
Cript T C 17: 87,335,139 (GRCm39) L19P probably benign Het
Cwf19l1 A C 19: 44,120,597 (GRCm39) L39V possibly damaging Het
Eif2b4 T C 5: 31,348,920 (GRCm39) probably null Het
Fbxo30 A G 10: 11,166,078 (GRCm39) N267D probably damaging Het
Gabra6 T C 11: 42,208,607 (GRCm39) probably null Het
Gp1ba A G 11: 70,531,473 (GRCm39) probably benign Het
Klf12 C T 14: 100,179,503 (GRCm39) R279Q probably benign Het
Lats1 C T 10: 7,567,540 (GRCm39) Q104* probably null Het
Myrfl A G 10: 116,675,289 (GRCm39) Y215H possibly damaging Het
Ncoa1 A G 12: 4,325,189 (GRCm39) I963T probably damaging Het
Neurod6 A G 6: 55,655,906 (GRCm39) Y244H probably damaging Het
Nodal T C 10: 61,254,212 (GRCm39) M45T possibly damaging Het
Nuggc A G 14: 65,861,591 (GRCm39) E479G possibly damaging Het
Pdcd6ip T C 9: 113,501,842 (GRCm39) D467G probably benign Het
Pnmt C A 11: 98,277,677 (GRCm39) Q74K probably benign Het
Slc25a36 G A 9: 96,961,235 (GRCm39) T267I probably damaging Het
Slc35e3 A G 10: 117,580,804 (GRCm39) S167P probably damaging Het
Sprr2f C A 3: 92,273,390 (GRCm39) P63H unknown Het
Stt3a T C 9: 36,659,371 (GRCm39) I323V probably benign Het
Tedc2 A G 17: 24,435,358 (GRCm39) S344P probably benign Het
Unc13b A G 4: 43,245,514 (GRCm39) D3722G probably damaging Het
Zfp35 T C 18: 24,136,555 (GRCm39) Y300H probably damaging Het
Zfp959 A G 17: 56,204,326 (GRCm39) D121G possibly damaging Het
Other mutations in Esp16
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB007:Esp16 UTSW 17 39,850,868 (GRCm39) missense possibly damaging 0.86
BB017:Esp16 UTSW 17 39,850,868 (GRCm39) missense possibly damaging 0.86
R3792:Esp16 UTSW 17 39,848,739 (GRCm39) missense possibly damaging 0.93
R3793:Esp16 UTSW 17 39,848,739 (GRCm39) missense possibly damaging 0.93
R7930:Esp16 UTSW 17 39,850,868 (GRCm39) missense possibly damaging 0.86
R8181:Esp16 UTSW 17 39,850,707 (GRCm39) nonsense probably null
R8493:Esp16 UTSW 17 39,850,821 (GRCm39) nonsense probably null
R8780:Esp16 UTSW 17 39,850,729 (GRCm39) missense probably damaging 0.99
R9673:Esp16 UTSW 17 39,848,731 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CACCCTCTTGAACTTTAGGTGATAAG -3'
(R):5'- AGACCCTTGAGTGATAATGCAG -3'

Sequencing Primer
(F):5'- TAAGAGATTAGTGTGCCATGGC -3'
(R):5'- CCCTTGAGTGATAATGCAGTATACC -3'
Posted On 2014-10-30