Incidental Mutation 'R5378:Esp8'
ID 425718
Institutional Source Beutler Lab
Gene Symbol Esp8
Ensembl Gene ENSMUSG00000090747
Gene Name exocrine gland secreted peptide 8
Synonyms Gm17495
MMRRC Submission 042953-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5378 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 40830913-40841312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40841033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 98 (C98Y)
Ref Sequence ENSEMBL: ENSMUSP00000129933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171813]
AlphaFold F7AMQ8
Predicted Effect unknown
Transcript: ENSMUST00000171813
AA Change: C98Y
SMART Domains Protein: ENSMUSP00000129933
Gene: ENSMUSG00000090747
AA Change: C98Y

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:ESP 28 87 8.6e-21 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,396,141 (GRCm39) F39L probably benign Het
Abca2 T G 2: 25,336,080 (GRCm39) L2150R probably damaging Het
Apob T A 12: 8,061,865 (GRCm39) V3449D probably damaging Het
Arfgef2 T A 2: 166,715,548 (GRCm39) V1331D probably damaging Het
Bora A G 14: 99,305,929 (GRCm39) N433D probably damaging Het
Cand2 G A 6: 115,778,912 (GRCm39) A1159T probably benign Het
Ccser1 C T 6: 61,288,650 (GRCm39) A271V probably benign Het
Ccser2 G A 14: 36,601,391 (GRCm39) T331I possibly damaging Het
Cemip A G 7: 83,607,733 (GRCm39) S758P probably damaging Het
Cenpf C T 1: 189,385,663 (GRCm39) V2206I possibly damaging Het
Chrnb1 A T 11: 69,676,007 (GRCm39) S412T probably benign Het
Cks1b A C 3: 89,323,608 (GRCm39) W54G probably damaging Het
Col5a3 C T 9: 20,708,872 (GRCm39) V630M unknown Het
Dnajb14 A G 3: 137,591,139 (GRCm39) D30G probably benign Het
Dpp8 T C 9: 64,985,296 (GRCm39) Y785H probably damaging Het
Dsel T A 1: 111,790,551 (GRCm39) probably benign Het
Dzip1 C T 14: 119,148,805 (GRCm39) M291I probably damaging Het
F11 C A 8: 45,705,180 (GRCm39) M120I probably benign Het
Fsip2 T C 2: 82,820,185 (GRCm39) F5306S possibly damaging Het
Gm4841 T C 18: 60,404,113 (GRCm39) probably null Het
Gpr180 T A 14: 118,377,251 (GRCm39) L84Q probably benign Het
Grwd1 A T 7: 45,479,505 (GRCm39) D123E probably benign Het
Hsfy2 T C 1: 56,675,827 (GRCm39) R237G probably benign Het
Htr5a A G 5: 28,055,993 (GRCm39) Y328C probably damaging Het
Klrb1f G A 6: 129,030,794 (GRCm39) A127T probably damaging Het
Mcpt4 A T 14: 56,299,750 (GRCm39) probably null Het
Muc5b T C 7: 141,415,940 (GRCm39) V2962A unknown Het
Or52s19 T A 7: 103,007,652 (GRCm39) I250F probably damaging Het
Or5t15 A T 2: 86,681,807 (GRCm39) N78K probably benign Het
Otog A T 7: 45,904,428 (GRCm39) T518S probably damaging Het
Phgdh A T 3: 98,228,639 (GRCm39) probably null Het
Pip5kl1 A T 2: 32,469,106 (GRCm39) T213S probably benign Het
Plekhg2 G A 7: 28,062,094 (GRCm39) R594W probably damaging Het
Prg4 T A 1: 150,330,977 (GRCm39) probably benign Het
Prpf40a T A 2: 53,035,888 (GRCm39) D621V probably damaging Het
Ptgr3 G A 18: 84,112,803 (GRCm39) A160T probably damaging Het
Ptprz1 A T 6: 23,007,401 (GRCm39) I1655F probably damaging Het
Rbm28 T C 6: 29,128,558 (GRCm39) K55E probably damaging Het
Rbm43 A T 2: 51,815,633 (GRCm39) V196E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Serinc4 T A 2: 121,282,861 (GRCm39) M434L possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc35f1 A T 10: 52,567,157 (GRCm39) H22L possibly damaging Het
Smg6 A G 11: 74,932,820 (GRCm39) D98G possibly damaging Het
Strbp A G 2: 37,489,186 (GRCm39) Y527H probably damaging Het
Strbp A G 2: 37,490,818 (GRCm39) V479A probably benign Het
Tdg G T 10: 82,477,305 (GRCm39) V119L probably benign Het
Trav10d G A 14: 53,048,825 (GRCm39) R72H probably benign Het
Trgc2 T C 13: 19,489,297 (GRCm39) Y145C unknown Het
Trim25 T C 11: 88,900,093 (GRCm39) L280P probably damaging Het
Tsc22d4 A G 5: 137,760,726 (GRCm39) D49G probably damaging Het
Ttn T C 2: 76,720,534 (GRCm39) probably benign Het
Tyr T A 7: 87,121,703 (GRCm39) H363L probably damaging Het
Ubr5 A G 15: 37,989,822 (GRCm39) S2020P probably damaging Het
Usp9y T C Y: 1,315,928 (GRCm39) D2069G probably damaging Het
Vmn1r170 T C 7: 23,305,963 (GRCm39) W122R probably benign Het
Wdr7 G A 18: 63,958,310 (GRCm39) probably null Het
Ylpm1 T A 12: 85,077,029 (GRCm39) H793Q probably damaging Het
Zfp266 G A 9: 20,410,659 (GRCm39) T506I probably damaging Het
Zfp518a T C 19: 40,904,300 (GRCm39) S1410P probably damaging Het
Other mutations in Esp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0554:Esp8 UTSW 17 40,841,166 (GRCm39) missense unknown
R5411:Esp8 UTSW 17 40,840,909 (GRCm39) nonsense probably null
R8859:Esp8 UTSW 17 40,841,013 (GRCm39) missense unknown
Z1088:Esp8 UTSW 17 40,840,936 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- CAGATCCCACCATATCTGCTG -3'
(R):5'- CCCTAATAATAGGCACAGCAGGTAG -3'

Sequencing Primer
(F):5'- GATCCCACCATATCTGCTGATAAC -3'
(R):5'- TAGGACACCAGGGGCCTC -3'
Posted On 2016-08-04