Incidental Mutation 'IGL03371:Eddm3b'
ID 420299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eddm3b
Ensembl Gene ENSMUSG00000072575
Gene Name epididymal protein 3B
Synonyms Fam12
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03371
Quality Score
Status
Chromosome 14
Chromosomal Location 51351886-51355248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 51354422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 137 (D137N)
Ref Sequence ENSEMBL: ENSMUSP00000098210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100645]
AlphaFold Q8K0E4
Predicted Effect probably damaging
Transcript: ENSMUST00000100645
AA Change: D137N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098210
Gene: ENSMUSG00000072575
AA Change: D137N

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:RnaseA 32 147 1.3e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agk C T 6: 40,371,576 (GRCm39) R358C probably benign Het
Ahnak G T 19: 8,981,592 (GRCm39) V959F possibly damaging Het
Aoc1 C T 6: 48,883,380 (GRCm39) R419C probably benign Het
Brf2 T C 8: 27,615,872 (GRCm39) D171G probably benign Het
Cnot1 T C 8: 96,501,344 (GRCm39) I75V possibly damaging Het
D430041D05Rik A G 2: 104,078,719 (GRCm39) V1199A probably damaging Het
Dpp9 G A 17: 56,494,377 (GRCm39) H861Y probably benign Het
Erich3 A T 3: 154,433,114 (GRCm39) I363F probably damaging Het
F13b T A 1: 139,434,674 (GRCm39) C147S probably damaging Het
Fam186b T C 15: 99,178,258 (GRCm39) E356G probably benign Het
Fat2 T A 11: 55,201,990 (GRCm39) R361S probably benign Het
Fat4 A T 3: 39,037,336 (GRCm39) I3663F possibly damaging Het
Haus3 C A 5: 34,323,687 (GRCm39) E308* probably null Het
Ifna11 A G 4: 88,738,412 (GRCm39) K73E probably benign Het
Itga10 A G 3: 96,562,104 (GRCm39) K664E possibly damaging Het
L3mbtl4 G A 17: 68,768,563 (GRCm39) V224M probably damaging Het
Mcf2l C A 8: 13,051,298 (GRCm39) A378D probably damaging Het
Mixl1 T C 1: 180,522,191 (GRCm39) N230S probably benign Het
Ncbp1 T A 4: 46,171,991 (GRCm39) C786* probably null Het
Nup153 C T 13: 46,836,628 (GRCm39) S1327N probably benign Het
Or4c12b A T 2: 89,647,509 (GRCm39) T280S possibly damaging Het
Or8k18 A T 2: 86,085,935 (GRCm39) I34N possibly damaging Het
Osr2 C A 15: 35,301,000 (GRCm39) Y185* probably null Het
Ppp1r3b T C 8: 35,851,403 (GRCm39) F81L possibly damaging Het
Ppp3r2 T A 4: 49,681,630 (GRCm39) I107F probably damaging Het
Rin2 G A 2: 145,727,846 (GRCm39) probably benign Het
Rpap1 A T 2: 119,605,538 (GRCm39) probably benign Het
Slc12a4 A G 8: 106,677,137 (GRCm39) Y466H probably null Het
Slc25a40 C T 5: 8,477,442 (GRCm39) P9L probably benign Het
Slc27a1 T C 8: 72,038,052 (GRCm39) S567P probably benign Het
Sox8 G A 17: 25,786,414 (GRCm39) R430C probably damaging Het
Tacc2 T C 7: 130,227,791 (GRCm39) V1492A possibly damaging Het
Taf5l A G 8: 124,724,725 (GRCm39) S365P possibly damaging Het
Tet2 T A 3: 133,173,312 (GRCm39) H1650L possibly damaging Het
Tmem117 G A 15: 94,909,274 (GRCm39) R229H probably damaging Het
Ttc17 A G 2: 94,216,450 (GRCm39) L79P probably damaging Het
Usp54 A T 14: 20,639,436 (GRCm39) probably benign Het
Zfp455 T A 13: 67,355,066 (GRCm39) C111* probably null Het
Zmym4 A C 4: 126,808,881 (GRCm39) C389G possibly damaging Het
Other mutations in Eddm3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02025:Eddm3b APN 14 51,354,228 (GRCm39) missense probably damaging 1.00
IGL02084:Eddm3b APN 14 51,354,087 (GRCm39) missense unknown
R1902:Eddm3b UTSW 14 51,354,321 (GRCm39) missense probably damaging 1.00
R4473:Eddm3b UTSW 14 51,354,236 (GRCm39) missense probably benign 0.01
R5269:Eddm3b UTSW 14 51,354,178 (GRCm39) missense probably damaging 1.00
R7184:Eddm3b UTSW 14 51,354,387 (GRCm39) missense probably damaging 1.00
R8948:Eddm3b UTSW 14 51,354,110 (GRCm39) missense probably damaging 1.00
R8950:Eddm3b UTSW 14 51,354,110 (GRCm39) missense probably damaging 1.00
X0064:Eddm3b UTSW 14 51,354,456 (GRCm39) missense probably damaging 1.00
Z1177:Eddm3b UTSW 14 51,354,446 (GRCm39) missense probably benign 0.07
Z1177:Eddm3b UTSW 14 51,354,179 (GRCm39) missense probably damaging 0.96
Posted On 2016-08-02