Incidental Mutation 'R0548:Adam39'
ID 44977
Institutional Source Beutler Lab
Gene Symbol Adam39
Ensembl Gene ENSMUSG00000054033
Gene Name a disintegrin and metallopeptidase domain 39
Synonyms 1700056P18Rik, testase 9
MMRRC Submission 038740-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0548 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 41276046-41279898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 41279504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 632 (C632G)
Ref Sequence ENSEMBL: ENSMUSP00000065783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066814]
AlphaFold Q7M762
Predicted Effect probably damaging
Transcript: ENSMUST00000066814
AA Change: C632G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: C632G

DomainStartEndE-ValueType
Pfam:Pep_M12B_propep 53 178 1.3e-19 PFAM
Pfam:Reprolysin_5 219 398 2.2e-18 PFAM
Pfam:Reprolysin_4 219 406 6.8e-16 PFAM
Pfam:Reprolysin 221 410 1.3e-43 PFAM
Pfam:Reprolysin_2 238 399 2.6e-12 PFAM
Pfam:Reprolysin_3 246 366 1.2e-17 PFAM
DISIN 428 503 3.97e-37 SMART
ACR 504 640 8.95e-74 SMART
transmembrane domain 702 724 N/A INTRINSIC
low complexity region 734 745 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 T C 7: 82,178,191 (GRCm39) probably null Het
Agfg1 A G 1: 82,864,152 (GRCm39) T447A probably damaging Het
Ankrd37 C T 8: 46,451,433 (GRCm39) probably null Het
Apob A T 12: 8,056,282 (GRCm39) D1555V probably damaging Het
Asxl3 T A 18: 22,654,849 (GRCm39) probably benign Het
Brca2 C A 5: 150,468,400 (GRCm39) D2242E probably damaging Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Cdk5rap2 A T 4: 70,267,379 (GRCm39) probably null Het
Cox10 A T 11: 63,867,178 (GRCm39) Y273N probably damaging Het
Dcbld2 A T 16: 58,275,508 (GRCm39) D408V probably damaging Het
Enam A T 5: 88,650,964 (GRCm39) E824D probably damaging Het
Epm2aip1 T C 9: 111,102,409 (GRCm39) Y461H probably damaging Het
Fam72a T A 1: 131,461,599 (GRCm39) S95T probably damaging Het
Fiz1 A T 7: 5,012,167 (GRCm39) V117D possibly damaging Het
Gm10355 C T 3: 101,214,376 (GRCm39) noncoding transcript Het
Gm11595 A T 11: 99,662,967 (GRCm39) C238S unknown Het
Gm7589 T G 9: 59,053,439 (GRCm39) noncoding transcript Het
H6pd A T 4: 150,066,073 (GRCm39) V771E probably damaging Het
Htt T C 5: 35,028,090 (GRCm39) L1782P probably damaging Het
Il33 T C 19: 29,932,047 (GRCm39) S147P probably benign Het
Lct T C 1: 128,212,932 (GRCm39) Y1907C probably damaging Het
Lrp2 G A 2: 69,367,982 (GRCm39) probably benign Het
Maco1 T C 4: 134,533,971 (GRCm39) D550G probably damaging Het
Map1b T C 13: 99,568,191 (GRCm39) K1510R unknown Het
Marco T C 1: 120,419,767 (GRCm39) T187A probably benign Het
Mki67 A T 7: 135,298,637 (GRCm39) N2132K possibly damaging Het
Mki67 T A 7: 135,296,985 (GRCm39) K2683M probably damaging Het
Mmp15 T C 8: 96,098,979 (GRCm39) V602A probably damaging Het
Mphosph10 T A 7: 64,028,548 (GRCm39) M536L probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
N4bp2 G T 5: 65,965,496 (GRCm39) V1182L probably benign Het
Nlrc5 C A 8: 95,248,411 (GRCm39) F1715L probably null Het
Nsd2 T A 5: 34,050,882 (GRCm39) V1253E probably damaging Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or2a52 T A 6: 43,144,121 (GRCm39) I43K probably benign Het
Or4c120 C A 2: 89,000,992 (GRCm39) C188F probably damaging Het
Or8g18 A T 9: 39,149,667 (GRCm39) S18T probably benign Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Pi4ka A T 16: 17,125,582 (GRCm39) N4K possibly damaging Het
Plxna4 A T 6: 32,134,950 (GRCm39) I1751N probably damaging Het
Postn C A 3: 54,274,997 (GRCm39) S122* probably null Het
Ppp4r4 A T 12: 103,579,074 (GRCm39) R762* probably null Het
Rrm1 G T 7: 102,116,274 (GRCm39) probably null Het
Rrp15 A G 1: 186,468,431 (GRCm39) V195A probably benign Het
Rtl1 T A 12: 109,558,089 (GRCm39) D1250V probably damaging Het
Rxrg T C 1: 167,458,788 (GRCm39) probably benign Het
Scn10a T C 9: 119,494,994 (GRCm39) K416E probably benign Het
Serping1 T C 2: 84,600,425 (GRCm39) probably benign Het
Slc12a6 T C 2: 112,166,269 (GRCm39) probably null Het
Smo A T 6: 29,759,585 (GRCm39) Q639L possibly damaging Het
Synrg T C 11: 83,873,014 (GRCm39) probably benign Het
Tars2 T C 3: 95,649,971 (GRCm39) D470G probably damaging Het
Tln1 T C 4: 43,542,709 (GRCm39) N1399S possibly damaging Het
Tmem131 A G 1: 36,877,119 (GRCm39) V240A probably damaging Het
Tmem232 G A 17: 65,689,615 (GRCm39) T500I probably benign Het
Toporsl G A 4: 52,612,140 (GRCm39) V678M possibly damaging Het
Vmn1r7 A T 6: 57,002,066 (GRCm39) F65I probably damaging Het
Wdfy4 C T 14: 32,764,578 (GRCm39) M2257I probably benign Het
Wdr20rt T A 12: 65,274,089 (GRCm39) D344E probably benign Het
Xirp2 C T 2: 67,344,758 (GRCm39) A2333V probably benign Het
Zfyve16 T C 13: 92,631,452 (GRCm39) K1381R probably benign Het
Zscan18 G T 7: 12,508,103 (GRCm39) P466T probably damaging Het
Other mutations in Adam39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Adam39 APN 8 41,279,783 (GRCm39) missense possibly damaging 0.53
IGL01350:Adam39 APN 8 41,278,876 (GRCm39) nonsense probably null
IGL02237:Adam39 APN 8 41,278,482 (GRCm39) missense probably benign 0.39
IGL02688:Adam39 APN 8 41,279,357 (GRCm39) missense probably benign 0.00
IGL02890:Adam39 APN 8 41,278,190 (GRCm39) missense probably benign 0.03
IGL03071:Adam39 APN 8 41,278,104 (GRCm39) missense probably benign 0.08
IGL03145:Adam39 APN 8 41,277,695 (GRCm39) missense probably benign 0.00
R0083:Adam39 UTSW 8 41,278,115 (GRCm39) missense probably damaging 0.98
R0086:Adam39 UTSW 8 41,279,397 (GRCm39) missense possibly damaging 0.64
R0546:Adam39 UTSW 8 41,279,468 (GRCm39) missense probably damaging 1.00
R1489:Adam39 UTSW 8 41,278,031 (GRCm39) missense possibly damaging 0.49
R1643:Adam39 UTSW 8 41,279,523 (GRCm39) missense possibly damaging 0.83
R1756:Adam39 UTSW 8 41,278,361 (GRCm39) missense probably damaging 0.99
R2081:Adam39 UTSW 8 41,279,879 (GRCm39) makesense probably null
R4510:Adam39 UTSW 8 41,279,328 (GRCm39) missense probably damaging 1.00
R4511:Adam39 UTSW 8 41,279,328 (GRCm39) missense probably damaging 1.00
R4612:Adam39 UTSW 8 41,278,958 (GRCm39) missense probably damaging 0.96
R4673:Adam39 UTSW 8 41,277,768 (GRCm39) missense probably benign 0.37
R4704:Adam39 UTSW 8 41,278,833 (GRCm39) missense probably benign
R4978:Adam39 UTSW 8 41,278,374 (GRCm39) missense possibly damaging 0.49
R5116:Adam39 UTSW 8 41,278,038 (GRCm39) missense probably damaging 1.00
R5269:Adam39 UTSW 8 41,279,018 (GRCm39) missense probably benign 0.01
R5710:Adam39 UTSW 8 41,277,684 (GRCm39) missense probably benign 0.05
R5971:Adam39 UTSW 8 41,277,630 (GRCm39) missense probably benign 0.01
R6067:Adam39 UTSW 8 41,277,630 (GRCm39) missense probably benign 0.01
R6078:Adam39 UTSW 8 41,277,630 (GRCm39) missense probably benign 0.01
R6180:Adam39 UTSW 8 41,279,610 (GRCm39) missense probably benign 0.03
R6358:Adam39 UTSW 8 41,279,718 (GRCm39) missense probably benign 0.16
R6699:Adam39 UTSW 8 41,279,694 (GRCm39) missense probably benign 0.01
R6896:Adam39 UTSW 8 41,277,975 (GRCm39) missense possibly damaging 0.86
R7117:Adam39 UTSW 8 41,279,279 (GRCm39) missense probably damaging 1.00
R7186:Adam39 UTSW 8 41,279,349 (GRCm39) missense probably damaging 1.00
R7195:Adam39 UTSW 8 41,277,812 (GRCm39) nonsense probably null
R7381:Adam39 UTSW 8 41,279,000 (GRCm39) missense probably damaging 1.00
R7405:Adam39 UTSW 8 41,277,659 (GRCm39) missense probably benign 0.01
R8068:Adam39 UTSW 8 41,278,975 (GRCm39) missense not run
R8205:Adam39 UTSW 8 41,278,080 (GRCm39) missense probably benign 0.06
R8239:Adam39 UTSW 8 41,278,106 (GRCm39) missense probably damaging 1.00
R8792:Adam39 UTSW 8 41,279,613 (GRCm39) missense probably benign
R8978:Adam39 UTSW 8 41,278,707 (GRCm39) missense probably damaging 1.00
R9472:Adam39 UTSW 8 41,279,351 (GRCm39) missense possibly damaging 0.89
R9562:Adam39 UTSW 8 41,277,755 (GRCm39) missense probably benign
R9565:Adam39 UTSW 8 41,277,755 (GRCm39) missense probably benign
R9570:Adam39 UTSW 8 41,277,687 (GRCm39) missense probably benign 0.09
R9593:Adam39 UTSW 8 41,279,744 (GRCm39) missense possibly damaging 0.68
U15987:Adam39 UTSW 8 41,277,630 (GRCm39) missense probably benign 0.01
Z1177:Adam39 UTSW 8 41,278,332 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGAGTGCAGATCACAGTTGCTACAG -3'
(R):5'- CCAAGGCCACTTTTCAGGCAATG -3'

Sequencing Primer
(F):5'- AAGGTGACCGTTTTGGCAAC -3'
(R):5'- CACTTTTCAGGCAATGTGGTGG -3'
Posted On 2013-06-11