Incidental Mutation 'IGL02347:Epp13'
ID289304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Epp13
Ensembl Gene ENSMUSG00000053367
Gene Nameepididymal protein 13
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL02347
Quality Score
Status
Chromosome7
Chromosomal Location6252710-6282066 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6269884 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 79 (I79M)
Ref Sequence ENSEMBL: ENSMUSP00000113155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121024]
Predicted Effect possibly damaging
Transcript: ENSMUST00000121024
AA Change: I79M

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113155
Gene: ENSMUSG00000053367
AA Change: I79M

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000128903
AA Change: I48M
Predicted Effect unknown
Transcript: ENSMUST00000155248
AA Change: I20M
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A T 6: 96,165,530 Y178N probably damaging Het
9830107B12Rik T A 17: 48,145,664 K35* probably null Het
Adad2 G T 8: 119,616,669 G546V probably damaging Het
Bccip A G 7: 133,709,376 K7E probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Car12 T A 9: 66,764,347 V352D possibly damaging Het
Cyp2d11 G A 15: 82,390,480 R299C probably benign Het
Dnah10 A C 5: 124,833,423 probably null Het
Egf A T 3: 129,678,377 N1199K probably benign Het
Ehbp1l1 A G 19: 5,719,572 W568R possibly damaging Het
Emc3 A G 6: 113,520,572 M106T possibly damaging Het
Fam13b T C 18: 34,454,704 K514E probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Frg2f1 A C 4: 119,530,732 L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 probably null Het
Glis3 A G 19: 28,531,883 F234L probably benign Het
Gm2035 T C 12: 87,919,589 D90G probably damaging Het
Grap2 T C 15: 80,646,356 probably benign Het
H2-M10.2 T A 17: 36,285,613 E113D probably benign Het
Itgb6 T C 2: 60,611,412 T685A probably benign Het
Mrpl19 A T 6: 81,962,011 M270K probably damaging Het
Msantd4 G T 9: 4,384,734 probably benign Het
Msr1 G T 8: 39,632,737 T34K probably damaging Het
Npc1 C T 18: 12,199,634 V780M probably benign Het
Nsun6 A G 2: 15,030,020 probably benign Het
Nt5c2 A G 19: 46,924,256 probably benign Het
Nucb2 A C 7: 116,535,878 Q340P probably benign Het
Olfr168 A G 16: 19,530,779 L47P probably damaging Het
Olfr401 C T 11: 74,121,571 T94I probably benign Het
Osgin1 A G 8: 119,445,538 E357G probably benign Het
Pabpc6 C T 17: 9,669,064 R186K probably benign Het
Pex1 A G 5: 3,603,350 K83R probably damaging Het
Ppid A G 3: 79,595,219 I82V probably benign Het
Pygl C T 12: 70,201,892 G318S probably benign Het
Rcn1 A T 2: 105,399,126 V27E probably benign Het
Rnaseh1 A T 12: 28,657,630 probably benign Het
Rnf148 A G 6: 23,654,730 V89A probably benign Het
Siglecf G A 7: 43,351,721 V38I possibly damaging Het
Slc13a5 T C 11: 72,258,954 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Sos2 A T 12: 69,596,746 D953E probably benign Het
Strbp A C 2: 37,645,648 V16G probably benign Het
Sycp1 A T 3: 102,893,547 M567K probably benign Het
Tedc2 A C 17: 24,220,610 V19G probably damaging Het
Tjp1 A G 7: 65,301,064 probably null Het
Ttn A T 2: 76,709,220 V26147E probably damaging Het
Vmn1r86 A G 7: 13,102,647 S51P probably damaging Het
Vmn2r83 A G 10: 79,480,233 T488A possibly damaging Het
Zfp541 A G 7: 16,083,465 Y945C probably damaging Het
Other mutations in Epp13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:Epp13 APN 7 6269899 splice site probably benign
R1069:Epp13 UTSW 7 6255922 critical splice acceptor site probably null
R1771:Epp13 UTSW 7 6277542 critical splice donor site probably null
R4663:Epp13 UTSW 7 6258625 missense possibly damaging 0.49
R4790:Epp13 UTSW 7 6266318 nonsense probably null
R5011:Epp13 UTSW 7 6266333 intron probably benign
R5013:Epp13 UTSW 7 6266333 intron probably benign
R5388:Epp13 UTSW 7 6266347 critical splice donor site probably null
R6576:Epp13 UTSW 7 6277542 critical splice donor site probably benign
R7224:Epp13 UTSW 7 6268802 missense probably benign 0.09
R7665:Epp13 UTSW 7 6269892 critical splice donor site probably null
Posted On2015-04-16