Incidental Mutation 'R1902:Eddm3b'
ID 212385
Institutional Source Beutler Lab
Gene Symbol Eddm3b
Ensembl Gene ENSMUSG00000072575
Gene Name epididymal protein 3B
Synonyms Fam12
MMRRC Submission 039922-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1902 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 51351886-51355248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51354321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 103 (I103N)
Ref Sequence ENSEMBL: ENSMUSP00000098210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100645]
AlphaFold Q8K0E4
Predicted Effect probably damaging
Transcript: ENSMUST00000100645
AA Change: I103N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098210
Gene: ENSMUSG00000072575
AA Change: I103N

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:RnaseA 32 147 1.3e-8 PFAM
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.7%
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: 128 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C T 12: 18,584,004 (GRCm39) Q355* probably null Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Adra1a T C 14: 66,875,684 (GRCm39) S220P probably benign Het
Ano2 A T 6: 125,849,647 (GRCm39) E126D probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgap45 C A 10: 79,861,300 (GRCm39) Q488K probably damaging Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Atxn7l3b A G 10: 112,764,578 (GRCm39) I17T probably benign Het
Bpifb9a A T 2: 154,103,911 (GRCm39) N118I probably benign Het
Btbd9 A T 17: 30,749,202 (GRCm39) D37E probably damaging Het
C8a T C 4: 104,713,798 (GRCm39) probably null Het
Capn13 G A 17: 73,633,356 (GRCm39) S535F probably damaging Het
Carns1 G T 19: 4,216,337 (GRCm39) P615Q probably damaging Het
Casz1 T C 4: 149,020,652 (GRCm39) I479T possibly damaging Het
Ccdc88a G T 11: 29,411,788 (GRCm39) M532I probably benign Het
Cdc42bpb T G 12: 111,292,450 (GRCm39) S362R probably damaging Het
Ceacam11 A T 7: 17,709,252 (GRCm39) H150L probably benign Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Cpeb1 T C 7: 81,021,867 (GRCm39) D92G probably benign Het
Cped1 T A 6: 22,120,980 (GRCm39) probably null Het
Csf1r A G 18: 61,263,213 (GRCm39) T896A probably damaging Het
Csf3r T C 4: 125,936,711 (GRCm39) F658S probably damaging Het
Cts6 A T 13: 61,349,329 (GRCm39) Y126* probably null Het
Cul7 T C 17: 46,966,666 (GRCm39) L365P probably damaging Het
Cxcl5 T C 5: 90,907,644 (GRCm39) V72A probably damaging Het
Cyp4v3 T A 8: 45,759,989 (GRCm39) H521L probably benign Het
Dct T C 14: 118,271,690 (GRCm39) N380S probably benign Het
Dnah1 T C 14: 31,041,716 (GRCm39) D85G probably damaging Het
Dnah7a T C 1: 53,574,637 (GRCm39) D1709G probably damaging Het
Dnai1 A T 4: 41,625,319 (GRCm39) K428* probably null Het
Dsc1 A T 18: 20,229,045 (GRCm39) V415D probably damaging Het
E2f8 T C 7: 48,520,920 (GRCm39) H467R probably benign Het
Gal3st2c T G 1: 93,936,611 (GRCm39) N185K probably damaging Het
Ganc T C 2: 120,276,963 (GRCm39) L675P probably damaging Het
Garin3 A T 11: 46,297,838 (GRCm39) T381S probably benign Het
Gdf9 G A 11: 53,327,780 (GRCm39) M245I probably benign Het
Gm21886 G A 18: 80,132,633 (GRCm39) T175I probably damaging Het
Gria2 A G 3: 80,629,415 (GRCm39) L269P probably damaging Het
Grm8 T C 6: 27,429,481 (GRCm39) Y471C probably damaging Het
Gucy2g T A 19: 55,198,669 (GRCm39) T825S probably benign Het
H2-T13 A T 17: 36,394,845 (GRCm39) M16K probably damaging Het
Iffo2 T C 4: 139,335,012 (GRCm39) S124P probably damaging Het
Igf1r T C 7: 67,850,997 (GRCm39) Y931H possibly damaging Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Il23r A C 6: 67,400,718 (GRCm39) D537E probably benign Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Itgb4 T C 11: 115,871,564 (GRCm39) V179A probably damaging Het
Itpr2 T A 6: 146,131,201 (GRCm39) H1968L probably damaging Het
Kdm4a A G 4: 118,017,596 (GRCm39) V490A probably benign Het
Kif13a A T 13: 46,941,638 (GRCm39) D946E probably benign Het
Klhl22 T A 16: 17,589,651 (GRCm39) I104N probably damaging Het
Klk6 A C 7: 43,475,481 (GRCm39) M1L probably benign Het
Krt78 A T 15: 101,855,398 (GRCm39) C804* probably null Het
Larp7 A T 3: 127,334,227 (GRCm39) N533K probably damaging Het
Lrit3 T C 3: 129,584,895 (GRCm39) T288A probably benign Het
Lrp11 T A 10: 7,499,544 (GRCm39) L245Q probably damaging Het
Lrp1b T C 2: 40,750,673 (GRCm39) S2964G probably damaging Het
Lrrc66 C T 5: 73,764,965 (GRCm39) V693M probably damaging Het
Macf1 T A 4: 123,364,958 (GRCm39) M3268L probably benign Het
Mad1l1 A G 5: 140,289,443 (GRCm39) S161P possibly damaging Het
Mettl25 A G 10: 105,661,948 (GRCm39) S341P probably damaging Het
Morc3 A G 16: 93,667,385 (GRCm39) T588A probably damaging Het
Mospd3 A G 5: 137,598,677 (GRCm39) S21P probably damaging Het
Mrpl57 T A 14: 58,064,186 (GRCm39) F71L probably damaging Het
Mtbp T C 15: 55,470,111 (GRCm39) L594S probably damaging Het
Mthfd2 T C 6: 83,283,713 (GRCm39) N323S probably damaging Het
Muc5b G T 7: 141,417,842 (GRCm39) S3596I possibly damaging Het
Mug1 A G 6: 121,858,780 (GRCm39) D1166G probably benign Het
Nav1 T G 1: 135,400,148 (GRCm39) N474T probably benign Het
Ncoa1 A T 12: 4,389,049 (GRCm39) D75E possibly damaging Het
Ncor1 A C 11: 62,228,984 (GRCm39) I958S probably damaging Het
Nefm T C 14: 68,361,563 (GRCm39) S234G probably benign Het
Nlrp4c T C 7: 6,068,818 (GRCm39) S240P probably damaging Het
Nox3 C T 17: 3,720,292 (GRCm39) V298M probably damaging Het
Ntn4 A G 10: 93,543,234 (GRCm39) D320G possibly damaging Het
Nudt13 C G 14: 20,360,709 (GRCm39) T174R probably damaging Het
Odr4 T A 1: 150,264,360 (GRCm39) probably null Het
Opn1sw T A 6: 29,379,803 (GRCm39) N144Y possibly damaging Het
Or10al3 T A 17: 38,012,312 (GRCm39) H250Q probably damaging Het
Or10g3 T G 14: 52,610,174 (GRCm39) Q112P possibly damaging Het
Or1l8 T C 2: 36,817,197 (GRCm39) I310V probably benign Het
Or2a52 T A 6: 43,144,657 (GRCm39) probably null Het
Or4a72 A T 2: 89,405,947 (GRCm39) L41Q possibly damaging Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Or5g25 T C 2: 85,478,201 (GRCm39) S155G possibly damaging Het
Or6c216 G T 10: 129,678,375 (GRCm39) P179T probably benign Het
Or6n2 T C 1: 173,897,692 (GRCm39) V276A probably damaging Het
Or8g4 T C 9: 39,662,102 (GRCm39) V140A probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Parp14 C T 16: 35,673,888 (GRCm39) probably null Het
Pde3a C A 6: 141,444,496 (GRCm39) N1101K probably benign Het
Plcb1 G A 2: 134,655,533 (GRCm39) V38I possibly damaging Het
Plec T A 15: 76,059,751 (GRCm39) E3417D probably damaging Het
Ppfibp2 C T 7: 107,345,585 (GRCm39) P869L probably damaging Het
Ppp1r12a T A 10: 108,034,752 (GRCm39) I99N probably damaging Het
Pramel5 G A 4: 144,000,433 (GRCm39) Q48* probably null Het
Prr13 C A 15: 102,369,133 (GRCm39) probably benign Het
Psg22 T A 7: 18,458,363 (GRCm39) Y312* probably null Het
Ptchd4 A T 17: 42,814,507 (GRCm39) I803L probably benign Het
Rasa4 A G 5: 136,120,092 (GRCm39) D56G probably benign Het
Rif1 T A 2: 52,006,685 (GRCm39) N2206K possibly damaging Het
Robo1 A G 16: 72,757,092 (GRCm39) Q351R probably null Het
Samd4 T C 14: 47,311,585 (GRCm39) F81S probably damaging Het
Sh3pxd2b T C 11: 32,373,559 (GRCm39) *909Q probably null Het
Slc25a45 A G 19: 5,934,550 (GRCm39) R173G probably damaging Het
Smarca1 G A X: 46,938,840 (GRCm39) Q723* probably null Het
Smoc1 T C 12: 81,151,445 (GRCm39) I54T probably benign Het
Spef2 G T 15: 9,607,463 (GRCm39) R1319S probably damaging Het
Steap3 T G 1: 120,169,464 (GRCm39) I240L probably benign Het
Stmn4 C T 14: 66,593,058 (GRCm39) L13F probably damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Syt3 T C 7: 44,039,940 (GRCm39) S58P possibly damaging Het
Tas2r125 T C 6: 132,887,139 (GRCm39) F176L probably benign Het
Tbc1d19 T A 5: 53,986,695 (GRCm39) C35S probably benign Het
Tcaf3 T C 6: 42,570,486 (GRCm39) E422G possibly damaging Het
Tekt4 T A 17: 25,690,832 (GRCm39) F46Y possibly damaging Het
Tnfaip3 T C 10: 18,883,937 (GRCm39) K148E probably benign Het
Trrap T G 5: 144,752,863 (GRCm39) I1813R probably damaging Het
Ttc29 A G 8: 78,978,361 (GRCm39) E137G probably benign Het
Tubgcp6 C A 15: 89,000,444 (GRCm39) R307L possibly damaging Het
Tyro3 T C 2: 119,632,176 (GRCm39) I81T possibly damaging Het
Upp2 T G 2: 58,661,464 (GRCm39) M71R probably damaging Het
Utp20 G T 10: 88,588,888 (GRCm39) T2427K probably benign Het
Vcl T A 14: 21,032,767 (GRCm39) L122Q probably damaging Het
Vmn1r213 A C 13: 23,196,476 (GRCm39) N353T possibly damaging Het
Vwa5b2 G T 16: 20,423,582 (GRCm39) S1165I possibly damaging Het
Zfp869 T C 8: 70,160,088 (GRCm39) K162E probably benign 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
IGL03371:Eddm3b APN 14 51,354,422 (GRCm39) missense probably damaging 0.97
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
Predicted Primers PCR Primer
(F):5'- AAAGCACTTCCAGGAGGCAG -3'
(R):5'- AACTATTCACTGCTCTTTCAGAACC -3'

Sequencing Primer
(F):5'- ACTTCCAGGAGGCAGTTCATG -3'
(R):5'- CCATCCAGAGGTGATGAGACTTTC -3'
Posted On 2014-06-30