Incidental Mutation 'IGL02347:Eddm13'
ID 289304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eddm13
Ensembl Gene ENSMUSG00000053367
Gene Name epididymal protein 13
Synonyms Epp13
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL02347
Quality Score
Status
Chromosome 7
Chromosomal Location 6255636-6284860 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6272883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 79 (I79M)
Ref Sequence ENSEMBL: ENSMUSP00000113155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121024]
AlphaFold E9Q7F5
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
9830107B12Rik T A 17: 48,452,835 (GRCm39) K35* probably null Het
Adad2 G T 8: 120,343,408 (GRCm39) G546V probably damaging Het
Bccip A G 7: 133,311,105 (GRCm39) K7E probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Car12 T A 9: 66,671,629 (GRCm39) V352D possibly damaging Het
Cyp2d11 G A 15: 82,274,681 (GRCm39) R299C probably benign Het
Dnah10 A C 5: 124,910,487 (GRCm39) probably null Het
Egf A T 3: 129,472,026 (GRCm39) N1199K probably benign Het
Ehbp1l1 A G 19: 5,769,600 (GRCm39) W568R possibly damaging Het
Eif1ad14 T C 12: 87,886,359 (GRCm39) D90G probably damaging Het
Emc3 A G 6: 113,497,533 (GRCm39) M106T possibly damaging Het
Fam13b T C 18: 34,587,757 (GRCm39) K514E probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Frg2f1 A C 4: 119,387,929 (GRCm39) L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 (GRCm39) probably null Het
Glis3 A G 19: 28,509,283 (GRCm39) F234L probably benign Het
Grap2 T C 15: 80,530,557 (GRCm39) probably benign Het
H2-M10.2 T A 17: 36,596,505 (GRCm39) E113D probably benign Het
Itgb6 T C 2: 60,441,756 (GRCm39) T685A probably benign Het
Mrpl19 A T 6: 81,938,992 (GRCm39) M270K probably damaging Het
Msantd4 G T 9: 4,384,734 (GRCm39) probably benign Het
Msr1 G T 8: 40,085,778 (GRCm39) T34K probably damaging Het
Npc1 C T 18: 12,332,691 (GRCm39) V780M probably benign Het
Nsun6 A G 2: 15,034,831 (GRCm39) probably benign Het
Nt5c2 A G 19: 46,912,695 (GRCm39) probably benign Het
Nucb2 A C 7: 116,135,113 (GRCm39) Q340P probably benign Het
Nup50l A T 6: 96,142,511 (GRCm39) Y178N probably damaging Het
Or2l13b A G 16: 19,349,529 (GRCm39) L47P probably damaging Het
Or3a1b C T 11: 74,012,397 (GRCm39) T94I probably benign Het
Osgin1 A G 8: 120,172,277 (GRCm39) E357G probably benign Het
Pabpc6 C T 17: 9,887,993 (GRCm39) R186K probably benign Het
Pex1 A G 5: 3,653,350 (GRCm39) K83R probably damaging Het
Ppid A G 3: 79,502,526 (GRCm39) I82V probably benign Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rcn1 A T 2: 105,229,471 (GRCm39) V27E probably benign Het
Rnaseh1 A T 12: 28,707,629 (GRCm39) probably benign Het
Rnf148 A G 6: 23,654,729 (GRCm39) V89A probably benign Het
Siglecf G A 7: 43,001,145 (GRCm39) V38I possibly damaging Het
Slc13a5 T C 11: 72,149,780 (GRCm39) probably null Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Sos2 A T 12: 69,643,520 (GRCm39) D953E probably benign Het
Strbp A C 2: 37,535,660 (GRCm39) V16G probably benign Het
Sycp1 A T 3: 102,800,863 (GRCm39) M567K probably benign Het
Tedc2 A C 17: 24,439,584 (GRCm39) V19G probably damaging Het
Tjp1 A G 7: 64,950,812 (GRCm39) probably null Het
Ttn A T 2: 76,539,564 (GRCm39) V26147E probably damaging Het
Vmn1r86 A G 7: 12,836,574 (GRCm39) S51P probably damaging Het
Vmn2r83 A G 10: 79,316,067 (GRCm39) T488A possibly damaging Het
Zfp541 A G 7: 15,817,390 (GRCm39) Y945C probably damaging Het
Other mutations in Eddm13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:Eddm13 APN 7 6,272,898 (GRCm39) splice site probably benign
R1069:Eddm13 UTSW 7 6,258,921 (GRCm39) critical splice acceptor site probably null
R1771:Eddm13 UTSW 7 6,280,541 (GRCm39) critical splice donor site probably null
R4663:Eddm13 UTSW 7 6,261,624 (GRCm39) missense possibly damaging 0.49
R4790:Eddm13 UTSW 7 6,269,317 (GRCm39) nonsense probably null
R5011:Eddm13 UTSW 7 6,269,332 (GRCm39) intron probably benign
R5013:Eddm13 UTSW 7 6,269,332 (GRCm39) intron probably benign
R5388:Eddm13 UTSW 7 6,269,346 (GRCm39) critical splice donor site probably null
R6576:Eddm13 UTSW 7 6,280,541 (GRCm39) critical splice donor site probably benign
R7224:Eddm13 UTSW 7 6,271,801 (GRCm39) missense probably benign 0.09
R7665:Eddm13 UTSW 7 6,272,891 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16