Incidental Mutation 'IGL02025:Eddm3b'
ID 184123
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 # IGL02025
Quality Score
Status
Chromosome 14
Chromosomal Location 51351886-51355248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51354228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 72 (V72D)
Ref Sequence ENSEMBL: ENSMUSP00000098210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100645]
AlphaFold Q8K0E4
Predicted Effect probably damaging
Transcript: ENSMUST00000100645
AA Change: V72D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098210
Gene: ENSMUSG00000072575
AA Change: V72D

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 T C 18: 61,866,770 (GRCm39) probably benign Het
Akap6 A G 12: 53,187,118 (GRCm39) T1511A probably benign Het
Casp8 A C 1: 58,863,306 (GRCm39) I69L possibly damaging Het
Cdh23 T C 10: 60,220,922 (GRCm39) E1274G probably damaging Het
Cfap47 A T X: 78,554,036 (GRCm39) S230R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Depdc5 A G 5: 33,103,976 (GRCm39) probably null Het
Dock5 A G 14: 68,000,736 (GRCm39) S1656P probably damaging Het
Dock6 A G 9: 21,720,885 (GRCm39) S1707P probably damaging Het
Etl4 A G 2: 20,811,337 (GRCm39) D1508G probably damaging Het
Gm20489 A C X: 100,307,290 (GRCm39) V21G probably damaging Het
Il16 T C 7: 83,302,056 (GRCm39) N22S probably damaging Het
Ksr1 T C 11: 78,912,276 (GRCm39) probably null Het
Lrrc32 C T 7: 98,148,767 (GRCm39) R516C probably benign Het
Naa25 T C 5: 121,577,928 (GRCm39) V945A probably damaging Het
Neb T C 2: 52,197,751 (GRCm39) T501A probably benign Het
Npnt A C 3: 132,596,523 (GRCm39) probably null Het
Nr1h5 G A 3: 102,856,942 (GRCm39) probably benign Het
Opalin T C 19: 41,060,674 (GRCm39) probably benign Het
Or10ak9 G A 4: 118,726,362 (GRCm39) C127Y probably damaging Het
Or2w6 A G 13: 21,843,433 (GRCm39) V20A possibly damaging Het
Or9s13 A G 1: 92,548,269 (GRCm39) I214V probably benign Het
Pls3 A T X: 74,840,101 (GRCm39) L341H probably damaging Het
Pnp2 T A 14: 51,197,010 (GRCm39) L32H probably damaging Het
Prpf40b T C 15: 99,212,469 (GRCm39) F571S probably damaging Het
Prss16 A G 13: 22,187,191 (GRCm39) S460P probably damaging Het
Sh3bp4 T C 1: 89,073,008 (GRCm39) S619P probably benign Het
Sirpb1b C T 3: 15,613,863 (GRCm39) R73Q probably damaging Het
Slc22a8 G A 19: 8,571,539 (GRCm39) G90E possibly damaging Het
Tbc1d2 G A 4: 46,620,713 (GRCm39) R366W probably damaging Het
Tns2 T A 15: 102,020,484 (GRCm39) Y783* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp7 C T 15: 76,772,464 (GRCm39) S55F probably damaging Het
Other mutations in Eddm3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02084:Eddm3b APN 14 51,354,087 (GRCm39) missense unknown
IGL03371:Eddm3b APN 14 51,354,422 (GRCm39) missense probably damaging 0.97
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 2014-05-07