Incidental Mutation 'R6723:Esp1'
ID 529723
Institutional Source Beutler Lab
Gene Symbol Esp1
Ensembl Gene ENSMUSG00000073396
Gene Name exocrine gland secreted peptide 1
Synonyms ESP1, Gm6084
MMRRC Submission 044841-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6723 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 41038011-41042673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41039747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 11 (I11L)
Ref Sequence ENSEMBL: ENSMUSP00000123886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000161110]
AlphaFold Q3LHH8
PDB Structure Solution Structure of Mouse Pheromone ESP1 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000161110
AA Change: I11L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000123886
Gene: ENSMUSG00000073396
AA Change: I11L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:ESP 24 82 2.8e-22 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 A G 12: 112,745,228 (GRCm39) S740P probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Bcl11a C A 11: 24,113,646 (GRCm39) P330T probably damaging Het
Cyp2d12 A T 15: 82,441,085 (GRCm39) I124F probably benign Het
Dhdds T C 4: 133,721,576 (GRCm39) T74A probably damaging Het
Dio3 G A 12: 110,245,991 (GRCm39) C109Y possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Efcab3 A T 11: 105,007,906 (GRCm39) T329S possibly damaging Het
Fam13b A T 18: 34,631,079 (GRCm39) H33Q possibly damaging Het
Fam13c G A 10: 70,390,355 (GRCm39) D539N probably damaging Het
Fgd5 A G 6: 91,965,011 (GRCm39) T257A probably benign Het
Gm5134 A G 10: 75,844,453 (GRCm39) D603G probably benign Het
Gtpbp2 T C 17: 46,479,202 (GRCm39) V588A probably benign Het
Ift140 A G 17: 25,252,090 (GRCm39) I312M probably benign Het
Inpp5j T C 11: 3,450,640 (GRCm39) N571S probably damaging Het
Iqgap1 T G 7: 80,373,570 (GRCm39) D1473A probably benign Het
Ivl T G 3: 92,478,694 (GRCm39) K457T unknown Het
Kdm3b T C 18: 34,926,058 (GRCm39) I66T probably damaging Het
Kif21a A T 15: 90,824,649 (GRCm39) M1430K probably damaging Het
Klhl25 T A 7: 75,515,739 (GRCm39) L215Q possibly damaging Het
Lim2 T A 7: 43,085,099 (GRCm39) M163K probably benign Het
Lrig1 T C 6: 94,603,386 (GRCm39) D254G probably damaging Het
Mff A G 1: 82,729,387 (GRCm39) I122V possibly damaging Het
Mrpl15 A C 1: 4,852,789 (GRCm39) probably null Het
Mylk A G 16: 34,750,258 (GRCm39) Y1199C possibly damaging Het
Nlrp3 G A 11: 59,456,018 (GRCm39) C938Y probably damaging Het
Notch1 T C 2: 26,368,118 (GRCm39) N623D probably damaging Het
Obscn T G 11: 58,945,824 (GRCm39) E4129A probably damaging Het
Or10a49 A T 7: 108,467,795 (GRCm39) C189S probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4d11 A G 19: 12,013,639 (GRCm39) S156P probably damaging Het
Or5k1 T C 16: 58,617,795 (GRCm39) K138R probably benign Het
Or6c65 A T 10: 129,604,284 (GRCm39) L306F probably benign Het
Parm1 C T 5: 91,770,856 (GRCm39) P291S probably damaging Het
Pcsk1 T A 13: 75,241,188 (GRCm39) probably null Het
Pgap6 C A 17: 26,339,610 (GRCm39) T616N probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Piezo1 T G 8: 123,234,366 (GRCm39) Q93H probably benign Het
Pkd2l2 A T 18: 34,571,210 (GRCm39) Y575F probably damaging Het
Plekhn1 A C 4: 156,309,026 (GRCm39) F258C probably damaging Het
Pole C T 5: 110,471,482 (GRCm39) H1409Y probably benign Het
Rae1 T C 2: 172,854,041 (GRCm39) I273T probably damaging Het
Rag1 A G 2: 101,473,990 (GRCm39) V384A probably damaging Het
Rnaseh1 T C 12: 28,699,761 (GRCm39) L25P probably damaging Het
Serpinb12 A G 1: 106,876,888 (GRCm39) H68R probably benign Het
Sh3tc2 A T 18: 62,111,025 (GRCm39) I294F probably damaging Het
Sirpb1b A C 3: 15,613,858 (GRCm39) L75V possibly damaging Het
Slc12a6 A T 2: 112,168,287 (GRCm39) T277S probably damaging Het
Slc7a12 A T 3: 14,564,257 (GRCm39) E43D probably benign Het
Spata31d1c T A 13: 65,183,758 (GRCm39) D433E probably benign Het
Spata31h1 T C 10: 82,125,657 (GRCm39) Y2451C possibly damaging Het
Tbl2 A T 5: 135,188,130 (GRCm39) Y308F probably damaging Het
Tfec T C 6: 16,835,301 (GRCm39) Y159C probably damaging Het
Top1mt G T 15: 75,539,282 (GRCm39) T371K probably benign Het
Trim24 T C 6: 37,928,403 (GRCm39) V541A probably benign Het
Ttc16 T C 2: 32,658,049 (GRCm39) Y456C possibly damaging Het
Ttn G A 2: 76,600,441 (GRCm39) R17204* probably null Het
Ugt1a6b T C 1: 88,035,439 (GRCm39) V259A probably benign Het
Unc5a T C 13: 55,143,702 (GRCm39) W129R probably benign Het
Vmn1r63 T A 7: 5,805,948 (GRCm39) H228L probably damaging Het
Whamm G T 7: 81,245,868 (GRCm39) V775F probably damaging Het
Zfc3h1 T A 10: 115,256,638 (GRCm39) I1536N probably benign Het
Zfp1 T C 8: 112,396,971 (GRCm39) S317P probably damaging Het
Zfp58 T C 13: 67,642,192 (GRCm39) T52A probably damaging Het
Other mutations in Esp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3700:Esp1 UTSW 17 41,041,998 (GRCm39) missense unknown
R4329:Esp1 UTSW 17 41,039,768 (GRCm39) missense probably benign 0.32
R5786:Esp1 UTSW 17 41,041,809 (GRCm39) missense probably benign 0.24
R6177:Esp1 UTSW 17 41,039,723 (GRCm39) missense possibly damaging 0.73
R7223:Esp1 UTSW 17 41,041,972 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AGAAACTCCTTAGTGCATCACTTCC -3'
(R):5'- TGGGTACTATAGCAGCCAGAGG -3'

Sequencing Primer
(F):5'- GCATCACTTCCTTTATTGTGTGAATG -3'
(R):5'- AGGTAGGGAGCTCAACCTTAGTCTC -3'
Posted On 2018-08-01