Incidental Mutation 'R1430:Adam3'
ID 244141
Institutional Source Beutler Lab
Gene Symbol Adam3
Ensembl Gene ENSMUSG00000031553
Gene Name ADAM metallopeptidase domain 3
Synonyms Taz83, tMDC, Taz83, Cyrn1, ADAM3
MMRRC Submission 039486-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1430 (G1)
Quality Score 28
Status Validated
Chromosome 8
Chromosomal Location 25167241-25215868 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 25204287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033958] [ENSMUST00000167703] [ENSMUST00000169598] [ENSMUST00000170318] [ENSMUST00000171438] [ENSMUST00000171611]
AlphaFold F8VQ03
Predicted Effect probably benign
Transcript: ENSMUST00000033958
SMART Domains Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 144 3.8e-30 PFAM
Pfam:Reprolysin_5 185 361 6.8e-9 PFAM
Pfam:Reprolysin 187 384 1.6e-64 PFAM
Pfam:Reprolysin_3 211 333 1.2e-8 PFAM
DISIN 404 482 5.58e-32 SMART
ACR 483 614 4.1e-50 SMART
EGF 622 653 1.66e1 SMART
transmembrane domain 689 709 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166986
Predicted Effect probably benign
Transcript: ENSMUST00000167703
SMART Domains Protein: ENSMUSP00000132634
Gene: ENSMUSG00000031553

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168662
Predicted Effect probably benign
Transcript: ENSMUST00000169598
SMART Domains Protein: ENSMUSP00000130818
Gene: ENSMUSG00000031553

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 90 3.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170318
SMART Domains Protein: ENSMUSP00000132620
Gene: ENSMUSG00000031553

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 118 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171438
SMART Domains Protein: ENSMUSP00000132651
Gene: ENSMUSG00000031553

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 23 144 2.4e-22 PFAM
Pfam:Reprolysin_5 185 361 7.8e-9 PFAM
Pfam:Reprolysin 187 384 4.1e-64 PFAM
Pfam:Reprolysin_3 211 321 1e-8 PFAM
DISIN 404 482 5.58e-32 SMART
ACR 483 614 4.1e-50 SMART
EGF 622 653 1.66e1 SMART
transmembrane domain 689 709 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171611
SMART Domains Protein: ENSMUSP00000126617
Gene: ENSMUSG00000031553

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Pep_M12B_propep 26 144 2.5e-30 PFAM
Pfam:Reprolysin_5 185 352 6.5e-9 PFAM
Pfam:Reprolysin 187 352 2.1e-54 PFAM
Pfam:Reprolysin_3 211 335 7.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170740
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.9%
Validation Efficiency 100% (55/55)
MGI Phenotype PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are male infertile, due to the inability of the sperm to bind to the zona pellucida. If the zona pellucida is removed sperm-egg membrane fusion happens as expected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc2 A G 11: 101,217,321 (GRCm39) Y468C probably damaging Het
Cdyl2 A G 8: 117,306,056 (GRCm39) probably benign Het
Cfh A G 1: 140,030,436 (GRCm39) probably benign Het
Cyp2j9 G T 4: 96,472,201 (GRCm39) probably benign Het
Dapk1 T G 13: 60,901,957 (GRCm39) F929V probably benign Het
Dhx9 A T 1: 153,359,493 (GRCm39) M35K probably benign Het
Dnah5 G A 15: 28,346,003 (GRCm39) E2448K probably benign Het
Doc2b A T 11: 75,670,981 (GRCm39) C217S possibly damaging Het
Dock11 A G X: 35,333,565 (GRCm39) I2010V probably benign Het
Dram1 T C 10: 88,160,641 (GRCm39) T227A possibly damaging Het
Eppin G A 2: 164,431,323 (GRCm39) T101M probably damaging Het
F13a1 T C 13: 37,082,105 (GRCm39) D533G probably damaging Het
Fmo1 C A 1: 162,667,293 (GRCm39) R174L probably damaging Het
Fsip2 C A 2: 82,828,407 (GRCm39) L6735I possibly damaging Het
Gab1 G T 8: 81,515,241 (GRCm39) T359K probably benign Het
Ggta1 T C 2: 35,298,029 (GRCm39) D118G possibly damaging Het
Gramd1a A G 7: 30,832,211 (GRCm39) S609P probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Lama1 A G 17: 68,089,150 (GRCm39) Y1607C possibly damaging Het
Lrrc24 G T 15: 76,607,992 (GRCm39) probably null Het
Mak C A 13: 41,223,760 (GRCm39) probably benign Het
Megf8 G A 7: 25,063,768 (GRCm39) R2708Q possibly damaging Het
Mettl24 T C 10: 40,613,791 (GRCm39) C177R probably damaging Het
Mgam G C 6: 40,733,305 (GRCm39) E812D probably benign Het
Mroh8 T C 2: 157,111,445 (GRCm39) R170G possibly damaging Het
Msn G A X: 95,196,325 (GRCm39) V130I probably benign Het
Ncoa4 G A 14: 31,898,679 (GRCm39) V500I probably benign Het
Or2aj5 A G 16: 19,424,752 (GRCm39) L222P probably damaging Het
Or2y1b A G 11: 49,208,928 (GRCm39) probably null Het
Or5an6 C T 19: 12,371,801 (GRCm39) T58I probably benign Het
Or8k3b T C 2: 86,520,866 (GRCm39) Y151C possibly damaging Het
Ppm1h T C 10: 122,693,004 (GRCm39) S302P probably damaging Het
Prkce T A 17: 86,866,565 (GRCm39) probably benign Het
Psenen T C 7: 30,261,815 (GRCm39) I34V probably benign Het
Rbl1 T C 2: 157,011,826 (GRCm39) T710A probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc1a5 A G 7: 16,516,328 (GRCm39) D168G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Syce1 A T 7: 140,359,351 (GRCm39) probably benign Het
Tbc1d23 G T 16: 57,034,573 (GRCm39) D75E probably damaging Het
Tbk1 A G 10: 121,395,839 (GRCm39) V418A probably benign Het
Tmem132e T C 11: 82,329,122 (GRCm39) V467A probably damaging Het
Tmem241 T C 18: 12,126,651 (GRCm39) D144G probably benign Het
Tsc2 A G 17: 24,817,997 (GRCm39) probably null Het
Ubxn4 T A 1: 128,202,617 (GRCm39) F420I probably benign Het
Usp34 A G 11: 23,409,151 (GRCm39) T2645A probably damaging Het
Utp14b A G 1: 78,644,111 (GRCm39) K670E probably benign Het
Zfp407 C T 18: 84,227,580 (GRCm39) V2010M probably benign Het
Zfp879 A G 11: 50,724,784 (GRCm39) F91L probably benign Het
Zfyve26 A G 12: 79,329,591 (GRCm39) S532P probably benign Het
Other mutations in Adam3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Adam3 APN 8 25,184,294 (GRCm39) missense probably damaging 1.00
IGL01792:Adam3 APN 8 25,187,219 (GRCm39) missense probably benign 0.27
IGL01894:Adam3 APN 8 25,177,954 (GRCm39) missense probably benign 0.33
IGL01941:Adam3 APN 8 25,171,462 (GRCm39) utr 3 prime probably benign
IGL02355:Adam3 APN 8 25,187,207 (GRCm39) missense probably damaging 1.00
IGL02362:Adam3 APN 8 25,187,207 (GRCm39) missense probably damaging 1.00
IGL02511:Adam3 APN 8 25,185,192 (GRCm39) missense probably damaging 0.98
IGL03070:Adam3 APN 8 25,193,800 (GRCm39) missense probably damaging 1.00
IGL03106:Adam3 APN 8 25,205,135 (GRCm39) splice site probably benign
IGL03238:Adam3 APN 8 25,177,981 (GRCm39) splice site probably null
I2288:Adam3 UTSW 8 25,174,677 (GRCm39) missense probably damaging 1.00
R0511:Adam3 UTSW 8 25,185,331 (GRCm39) missense probably damaging 1.00
R1103:Adam3 UTSW 8 25,204,287 (GRCm39) splice site probably benign
R1104:Adam3 UTSW 8 25,171,545 (GRCm39) missense probably benign 0.10
R1599:Adam3 UTSW 8 25,215,377 (GRCm39) missense possibly damaging 0.50
R1663:Adam3 UTSW 8 25,177,949 (GRCm39) missense probably benign 0.03
R2023:Adam3 UTSW 8 25,179,479 (GRCm39) missense possibly damaging 0.93
R2278:Adam3 UTSW 8 25,201,400 (GRCm39) missense probably damaging 0.99
R3033:Adam3 UTSW 8 25,184,227 (GRCm39) missense probably benign 0.00
R3440:Adam3 UTSW 8 25,170,759 (GRCm39) utr 3 prime probably benign
R3441:Adam3 UTSW 8 25,170,759 (GRCm39) utr 3 prime probably benign
R3688:Adam3 UTSW 8 25,193,864 (GRCm39) missense probably benign 0.02
R4478:Adam3 UTSW 8 25,185,171 (GRCm39) missense probably benign 0.04
R4654:Adam3 UTSW 8 25,193,819 (GRCm39) missense probably damaging 1.00
R4811:Adam3 UTSW 8 25,201,740 (GRCm39) missense probably benign 0.10
R4910:Adam3 UTSW 8 25,184,321 (GRCm39) missense probably benign 0.03
R4921:Adam3 UTSW 8 25,174,630 (GRCm39) missense probably benign 0.01
R4941:Adam3 UTSW 8 25,167,332 (GRCm39) unclassified probably benign
R5239:Adam3 UTSW 8 25,184,207 (GRCm39) missense possibly damaging 0.62
R5771:Adam3 UTSW 8 25,197,427 (GRCm39) missense probably benign 0.00
R5897:Adam3 UTSW 8 25,187,244 (GRCm39) missense probably benign 0.00
R5916:Adam3 UTSW 8 25,174,555 (GRCm39) critical splice donor site probably null
R5979:Adam3 UTSW 8 25,167,383 (GRCm39) missense probably benign 0.03
R6168:Adam3 UTSW 8 25,171,630 (GRCm39) splice site probably null
R6189:Adam3 UTSW 8 25,201,352 (GRCm39) missense probably benign 0.01
R6801:Adam3 UTSW 8 25,174,680 (GRCm39) missense possibly damaging 0.61
R6997:Adam3 UTSW 8 25,171,539 (GRCm39) missense probably benign 0.10
R7065:Adam3 UTSW 8 25,201,691 (GRCm39) critical splice donor site probably null
R7074:Adam3 UTSW 8 25,184,363 (GRCm39) missense probably benign 0.01
R7151:Adam3 UTSW 8 25,185,271 (GRCm39) missense probably damaging 1.00
R7208:Adam3 UTSW 8 25,201,417 (GRCm39) missense probably damaging 0.98
R7341:Adam3 UTSW 8 25,177,996 (GRCm39) missense possibly damaging 0.60
R7528:Adam3 UTSW 8 25,167,279 (GRCm39) missense unknown
R7797:Adam3 UTSW 8 25,184,660 (GRCm39) missense probably damaging 1.00
R7891:Adam3 UTSW 8 25,197,513 (GRCm39) critical splice acceptor site probably null
R8064:Adam3 UTSW 8 25,171,566 (GRCm39) missense probably benign 0.10
R8157:Adam3 UTSW 8 25,197,453 (GRCm39) missense probably benign 0.27
R8229:Adam3 UTSW 8 25,201,754 (GRCm39) missense probably damaging 0.98
R9007:Adam3 UTSW 8 25,205,127 (GRCm39) missense probably benign 0.02
R9018:Adam3 UTSW 8 25,184,292 (GRCm39) nonsense probably null
R9098:Adam3 UTSW 8 25,179,484 (GRCm39) missense probably damaging 1.00
R9110:Adam3 UTSW 8 25,193,821 (GRCm39) missense probably benign 0.00
R9125:Adam3 UTSW 8 25,213,517 (GRCm39) missense probably damaging 1.00
R9211:Adam3 UTSW 8 25,177,910 (GRCm39) missense probably benign 0.08
R9267:Adam3 UTSW 8 25,171,605 (GRCm39) missense probably benign
R9331:Adam3 UTSW 8 25,177,951 (GRCm39) missense probably benign 0.01
R9432:Adam3 UTSW 8 25,193,928 (GRCm39) missense probably damaging 1.00
R9716:Adam3 UTSW 8 25,204,274 (GRCm39) missense possibly damaging 0.65
X0063:Adam3 UTSW 8 25,201,722 (GRCm39) missense probably damaging 0.96
Z1088:Adam3 UTSW 8 25,171,447 (GRCm39) utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- AGCAGTTTCAGTTTCCCATTCACATTCC -3'
(R):5'- CTGAGAACAGCTCCTGGTTTCTGGTTTA -3'

Sequencing Primer
(F):5'- CTCCCTGAGTTTCTCTACAACAC -3'
(R):5'- GCCTGGAATCAGTACTCTAGCA -3'
Posted On 2014-10-29