Incidental Mutation 'IGL02713:Esp4'
ID304666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esp4
Ensembl Gene ENSMUSG00000095540
Gene Nameexocrine gland secreted peptide 4
SynonymsGm20580
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.039) question?
Stock #IGL02713
Quality Score
Status
Chromosome17
Chromosomal Location40598594-40602618 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40602406 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 55 (F55L)
Ref Sequence ENSEMBL: ENSMUSP00000136092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178498]
Predicted Effect probably benign
Transcript: ENSMUST00000178498
AA Change: F55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136092
Gene: ENSMUSG00000095540
AA Change: F55L

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:ESP 18 79 1.6e-32 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C A 1: 37,624,137 K893N possibly damaging Het
Acan A G 7: 79,100,244 T1588A possibly damaging Het
Apeh A T 9: 108,085,672 L700Q probably damaging Het
Arid1b T C 17: 5,343,011 I2272T probably damaging Het
Best3 T G 10: 117,024,529 F565V probably benign Het
Birc6 A G 17: 74,579,324 N521S probably benign Het
Cd209f T A 8: 4,103,732 R191S probably benign Het
Clec4e A T 6: 123,286,304 Y63* probably null Het
Cyp26c1 C T 19: 37,693,219 T490M probably damaging Het
Cyp2b9 T A 7: 26,173,520 H29Q probably benign Het
Cyp2d10 A C 15: 82,406,082 probably benign Het
Dgat1 C A 15: 76,503,534 R291L probably damaging Het
Dyrk1a C A 16: 94,685,345 probably benign Het
Fam227a G A 15: 79,636,796 probably benign Het
Ggt1 T C 10: 75,574,344 Y37H probably damaging Het
Grsf1 A T 5: 88,672,730 I64K probably damaging Het
Itga6 C T 2: 71,816,713 T89I possibly damaging Het
Jph2 T C 2: 163,375,917 T280A probably damaging Het
Lipm A G 19: 34,101,170 M1V probably null Het
Nbeal1 C T 1: 60,235,237 A513V possibly damaging Het
Olfr1491 A T 19: 13,705,189 I121F possibly damaging Het
Olfr514 A T 7: 108,825,594 M135K probably damaging Het
Olfr518 G A 7: 108,880,853 T251I probably damaging Het
Olfr61 A T 7: 140,637,916 I72F probably damaging Het
Olfr888 C T 9: 38,109,327 P214S probably damaging Het
Olfr995 T A 2: 85,438,637 I174F probably damaging Het
Orc6 A G 8: 85,307,586 E146G probably benign Het
Patl2 A G 2: 122,125,847 S179P probably benign Het
Pdzd8 C A 19: 59,345,458 G44C probably damaging Het
Phox2b A G 5: 67,096,595 probably benign Het
Ppp4r3b T G 11: 29,188,445 H264Q probably damaging Het
Ptprk T C 10: 28,592,811 I1409T possibly damaging Het
Pum1 T A 4: 130,766,012 I842N probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sgca T A 11: 94,971,305 N174Y probably damaging Het
Slc7a14 A T 3: 31,257,763 L36Q probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stard13 G A 5: 151,042,186 Q935* probably null Het
Suds3 C T 5: 117,094,905 probably null Het
Sv2b A T 7: 75,124,163 L520Q possibly damaging Het
Tmem26 T C 10: 68,751,295 F191S probably damaging Het
Other mutations in Esp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5750:Esp4 UTSW 17 40602395 missense probably benign 0.36
Posted On2015-04-16