Incidental Mutation 'R2991:Esp24'
ID 257924
Institutional Source Beutler Lab
Gene Symbol Esp24
Ensembl Gene ENSMUSG00000095625
Gene Name exocrine gland secreted peptide 24
Synonyms Gm21947
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R2991 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 39347586-39351118 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39350894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 31 (E31D)
Ref Sequence ENSEMBL: ENSMUSP00000137640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178039] [ENSMUST00000180245]
AlphaFold A8R0V6
Predicted Effect probably benign
Transcript: ENSMUST00000178039
Predicted Effect possibly damaging
Transcript: ENSMUST00000180245
AA Change: E31D

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000137640
Gene: ENSMUSG00000095625
AA Change: E31D

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ESP 24 63 3e-11 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T A 9: 30,832,690 (GRCm39) T282S probably benign Het
Asic2 C A 11: 81,858,863 (GRCm39) V50L probably benign Het
Cdadc1 T C 14: 59,823,521 (GRCm39) M324V possibly damaging Het
Cdcp3 A T 7: 130,848,429 (GRCm39) D861V probably damaging Het
Col12a1 A T 9: 79,607,547 (GRCm39) V427D probably damaging Het
Col3a1 C A 1: 45,374,939 (GRCm39) probably benign Het
Igkv14-100 T A 6: 68,496,335 (GRCm39) L76* probably null Het
Itsn2 T C 12: 4,708,474 (GRCm39) V843A probably benign Het
Llgl2 T C 11: 115,741,946 (GRCm39) S663P probably benign Het
Lsg1 T C 16: 30,380,547 (GRCm39) N630S probably damaging Het
Lypd8l C T 11: 58,501,516 (GRCm39) V156I possibly damaging Het
Msh4 A G 3: 153,611,497 (GRCm39) V42A probably benign Het
Nkx6-1 T C 5: 101,807,401 (GRCm39) Y327C probably damaging Het
Or9i1b G A 19: 13,896,675 (GRCm39) C97Y probably damaging Het
Pde4a T C 9: 21,114,539 (GRCm39) S369P probably damaging Het
Pkdrej T C 15: 85,704,137 (GRCm39) I600V probably benign Het
Plekhg6 T C 6: 125,347,432 (GRCm39) E479G probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rgmb A T 17: 16,041,352 (GRCm39) D78E probably damaging Het
Samd12 C T 15: 53,723,592 (GRCm39) E34K probably damaging Het
Slc22a21 T G 11: 53,850,195 (GRCm39) E220A probably damaging Het
Smc6 A G 12: 11,339,982 (GRCm39) E430G probably damaging Het
Snx15 C A 19: 6,171,515 (GRCm39) L186F probably damaging Het
Tiam2 A G 17: 3,568,525 (GRCm39) E1557G probably benign Het
Vwa8 A T 14: 79,232,589 (GRCm39) T644S probably benign Het
Zcchc4 T A 5: 52,961,780 (GRCm39) F247Y probably damaging Het
Zmynd11 A G 13: 9,745,858 (GRCm39) V165A probably damaging Het
Other mutations in Esp24
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1491:Esp24 UTSW 17 39,349,176 (GRCm39) start codon destroyed probably null 0.01
R1753:Esp24 UTSW 17 39,350,893 (GRCm39) missense possibly damaging 0.85
R3412:Esp24 UTSW 17 39,349,207 (GRCm39) missense possibly damaging 0.73
R4392:Esp24 UTSW 17 39,350,968 (GRCm39) unclassified probably benign
R5413:Esp24 UTSW 17 39,350,893 (GRCm39) missense possibly damaging 0.71
R6088:Esp24 UTSW 17 39,350,901 (GRCm39) missense probably benign 0.03
R6627:Esp24 UTSW 17 39,350,952 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGACTTTGGGTGACAAGAGATG -3'
(R):5'- CAGAAGGCAGGTCAACTACATTAGC -3'

Sequencing Primer
(F):5'- ATGAGTGCACAGTGGATGTC -3'
(R):5'- TACATTAGCCCTAAATATCTCGCAC -3'
Posted On 2015-01-11