Incidental Mutation 'R5750:Esp4'
ID445988
Institutional Source Beutler Lab
Gene Symbol Esp4
Ensembl Gene ENSMUSG00000095540
Gene Nameexocrine gland secreted peptide 4
SynonymsGm20580
MMRRC Submission 043356-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #R5750 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location40598594-40602618 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 40602395 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 51 (T51M)
Ref Sequence ENSEMBL: ENSMUSP00000136092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178498]
Predicted Effect probably benign
Transcript: ENSMUST00000178498
AA Change: T51M

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136092
Gene: ENSMUSG00000095540
AA Change: T51M

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:ESP 18 79 1.6e-32 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmat G A 4: 141,749,687 V135I probably benign Het
Agr3 T C 12: 35,946,942 Y72H probably benign Het
Ankhd1 T A 18: 36,624,902 M883K probably benign Het
Cpeb1 A T 7: 81,436,351 D9E probably benign Het
Creb3l1 C T 2: 91,986,263 V386M possibly damaging Het
Dnlz C T 2: 26,351,411 V102M probably damaging Het
Fam208b G A 13: 3,573,642 Q1421* probably null Het
Fap C A 2: 62,528,714 C443F probably damaging Het
Fbxo17 G A 7: 28,737,472 R284H probably damaging Het
Fpr1 T A 17: 17,877,263 I155F probably benign Het
Fshr T A 17: 88,986,241 L336F probably benign Het
Gm9992 C T 17: 7,369,731 V133I probably benign Het
Gna15 G A 10: 81,509,396 Q212* probably null Het
Hk1 A G 10: 62,274,466 F785L possibly damaging Het
Ints8 T A 4: 11,241,654 Q263L possibly damaging Het
Itgax T C 7: 128,144,706 F880L probably benign Het
Kcnq4 A C 4: 120,715,049 V327G probably damaging Het
Kdm4a A G 4: 118,142,199 probably benign Het
Leng8 C T 7: 4,142,120 S173L probably benign Het
Lrrc37a C T 11: 103,458,097 D2591N unknown Het
Macrod2 T A 2: 141,515,320 S179T probably benign Het
Map4k2 T A 19: 6,351,337 S612R probably benign Het
Mast2 A G 4: 116,308,889 probably benign Het
Micall2 C T 5: 139,715,701 probably null Het
Miga2 T A 2: 30,371,565 W191R probably damaging Het
Mterf1b T C 5: 4,196,683 I108T probably damaging Het
Myh2 A G 11: 67,191,428 I1319V probably benign Het
Nalcn T C 14: 123,572,038 E234G probably benign Het
Ncoa4 T A 14: 32,177,307 C602* probably null Het
Ntrk2 C A 13: 58,808,922 P65Q probably benign Het
Olfr625-ps1 G A 7: 103,683,155 V136I possibly damaging Het
Olfr811 C T 10: 129,801,620 V302M probably benign Het
P3h1 A T 4: 119,238,666 I324F probably damaging Het
Peli2 G T 14: 48,256,175 V285L possibly damaging Het
Qser1 A G 2: 104,788,923 S515P probably damaging Het
Rnf31 C T 14: 55,598,686 R721C probably damaging Het
Rps5 A G 7: 12,925,407 K42E probably damaging Het
Rufy4 A T 1: 74,132,909 T264S probably benign Het
Shq1 A T 6: 100,611,814 V259D possibly damaging Het
Slc22a3 T C 17: 12,433,508 I410V probably benign Het
Stx5a T C 19: 8,755,137 probably benign Het
Syne1 G T 10: 5,339,209 H1430Q probably benign Het
Tmem126b A C 7: 90,469,657 V141G probably damaging Het
Trim52 C A 14: 106,107,498 Q197K probably benign Het
Tshz1 A G 18: 84,013,961 L774P possibly damaging Het
Ttn T C 2: 76,771,687 S10217G possibly damaging Het
Unc45a A G 7: 80,334,823 V228A probably benign Het
Vwa2 G T 19: 56,909,231 G656V probably benign Het
Xpo5 T C 17: 46,218,630 probably null Het
Zeb2 T A 2: 44,997,518 Q494L probably damaging Het
Other mutations in Esp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02713:Esp4 APN 17 40602406 missense probably benign 0.00
R1148:Esp4 UTSW 17 40602371 missense probably benign 0.03
R1148:Esp4 UTSW 17 40602371 missense probably benign 0.03
R1565:Esp4 UTSW 17 40602595 makesense probably null
R2161:Esp4 UTSW 17 40602393 missense probably benign 0.00
R3406:Esp4 UTSW 17 40602445 missense possibly damaging 0.93
R3624:Esp4 UTSW 17 40602593 missense unknown
R4730:Esp4 UTSW 17 40602554 missense unknown
R4730:Esp4 UTSW 17 40602555 nonsense probably null
R7196:Esp4 UTSW 17 40602365 missense probably benign 0.07
R7980:Esp4 UTSW 17 40602301 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- AAAATCGATCCCTGGATAGGTC -3'
(R):5'- CTAGAGGAAGGAGAGACTTGTTTCTTG -3'

Sequencing Primer
(F):5'- CGATCCCTGGATAGGTCTTTGTTTC -3'
(R):5'- CTCATTTTATTTGGGTGAATGCAAG -3'
Posted On2016-11-21