Incidental Mutation 'R6896:Adam39'
ID 538340
Institutional Source Beutler Lab
Gene Symbol Adam39
Ensembl Gene ENSMUSG00000054033
Gene Name a disintegrin and metallopeptidase domain 39
Synonyms 1700056P18Rik, testase 9
MMRRC Submission 044990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6896 (G1)
Quality Score 200.009
Status Not validated
Chromosome 8
Chromosomal Location 41276046-41279898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41277975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 122 (N122I)
Ref Sequence ENSEMBL: ENSMUSP00000065783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066814]
AlphaFold Q7M762
Predicted Effect possibly damaging
Transcript: ENSMUST00000066814
AA Change: N122I

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: N122I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,660,298 (GRCm39) L454P probably damaging Het
Acadm T C 3: 153,641,957 (GRCm39) I192V probably damaging Het
Acadsb T A 7: 131,045,375 (GRCm39) Y436N probably benign Het
Ache G A 5: 137,289,996 (GRCm39) V442M probably damaging Het
Akap6 A T 12: 52,934,277 (GRCm39) I590F probably benign Het
Akap8 T C 17: 32,536,305 (GRCm39) N36S probably benign Het
Asap2 T C 12: 21,315,526 (GRCm39) S933P probably damaging Het
C3 C T 17: 57,527,864 (GRCm39) probably null Het
Cdon T A 9: 35,363,402 (GRCm39) M1K probably null Het
Cemip T A 7: 83,647,784 (GRCm39) I99F probably damaging Het
Cfap251 A G 5: 123,416,421 (GRCm39) T565A possibly damaging Het
Cfap58 T G 19: 47,932,626 (GRCm39) L130R probably damaging Het
Clca3a2 T C 3: 144,514,462 (GRCm39) D415G probably damaging Het
Coch A G 12: 51,649,652 (GRCm39) D321G possibly damaging Het
Dync2i1 C T 12: 116,193,291 (GRCm39) G554R possibly damaging Het
Efcab11 A G 12: 99,849,674 (GRCm39) probably benign Het
Ermap G T 4: 119,044,328 (GRCm39) S156* probably null Het
Fap G T 2: 62,334,944 (GRCm39) Y620* probably null Het
Galntl5 T C 5: 25,394,947 (GRCm39) probably null Het
Il21r C A 7: 125,226,128 (GRCm39) H76N probably damaging Het
Itpr1 T G 6: 108,458,355 (GRCm39) Y2041D probably damaging Het
Megf8 T A 7: 25,029,357 (GRCm39) N300K probably benign Het
Muc2 G A 7: 141,306,432 (GRCm39) V285I possibly damaging Het
Myh15 A T 16: 48,933,434 (GRCm39) Q623L probably benign Het
Myh7b T C 2: 155,464,488 (GRCm39) probably null Het
Naaladl1 T A 19: 6,159,335 (GRCm39) probably null Het
Nlrp9b T G 7: 19,757,170 (GRCm39) F136V probably damaging Het
Oprd1 A T 4: 131,844,612 (GRCm39) M132K probably damaging Het
Or10a3b T C 7: 108,444,750 (GRCm39) T156A probably benign Het
Or4s2b A G 2: 88,508,340 (GRCm39) N47S probably damaging Het
Or6c70 A T 10: 129,710,623 (GRCm39) M1K probably null Het
Or9g4 A G 2: 85,505,277 (GRCm39) Y73H probably damaging Het
Patj T A 4: 98,314,287 (GRCm39) V369D possibly damaging Het
Pcdhb3 T C 18: 37,434,265 (GRCm39) L77P probably damaging Het
Pcf11 T C 7: 92,298,759 (GRCm39) D1259G probably damaging Het
Pdcl A T 2: 37,242,191 (GRCm39) H186Q probably damaging Het
Pdzd9 A T 7: 120,262,095 (GRCm39) *77R probably null Het
Reln C T 5: 22,104,177 (GRCm39) E3265K probably benign Het
Smg8 T C 11: 86,968,787 (GRCm39) T990A possibly damaging Het
Smok2a C T 17: 13,444,758 (GRCm39) H112Y probably benign Het
Spatc1l G A 10: 76,405,242 (GRCm39) R208H probably damaging Het
Taf7 T C 18: 37,775,733 (GRCm39) D278G possibly damaging Het
Vipas39 T C 12: 87,289,345 (GRCm39) N373S probably benign Het
Vmn2r78 C T 7: 86,571,558 (GRCm39) T456I probably benign Het
Vwf T C 6: 125,543,157 (GRCm39) S148P probably damaging Het
Xpot A C 10: 121,449,390 (GRCm39) probably null Het
Zdbf2 A T 1: 63,348,031 (GRCm39) R2137W probably damaging Het
Zfp462 T A 4: 55,009,544 (GRCm39) N503K possibly damaging Het
Zfp641 T A 15: 98,191,684 (GRCm39) M1L probably benign 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
R0548:Adam39 UTSW 8 41,279,504 (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
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'- CCTCCCAGAAGTAGTGATACCC -3'
(R):5'- TGTCAATGCACATCTCATGGGG -3'

Sequencing Primer
(F):5'- CCAGAAGTAGTGATACCCTTACGG -3'
(R):5'- GCACATCTCATGGGGTATAATTCTG -3'
Posted On 2018-11-06