Incidental Mutation 'R6067:Adam39'
ID 512220
Institutional Source Beutler Lab
Gene Symbol Adam39
Ensembl Gene ENSMUSG00000054033
Gene Name a disintegrin and metallopeptidase domain 39
Synonyms 1700056P18Rik, testase 9
MMRRC Submission 044231-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6067 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 41276046-41279898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41277630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 7 (A7V)
Ref Sequence ENSEMBL: ENSMUSP00000065783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066814]
AlphaFold Q7M762
Predicted Effect probably benign
Transcript: ENSMUST00000066814
AA Change: A7V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: A7V

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cbfa2t3 T C 8: 123,370,236 (GRCm39) H53R probably benign Het
Fam90a1b T C X: 93,400,191 (GRCm39) N213S probably benign Het
Insm2 T C 12: 55,646,799 (GRCm39) I181T probably damaging Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Muc4 T A 16: 32,575,621 (GRCm39) probably benign Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Nop14 T C 5: 34,815,295 (GRCm39) D85G probably damaging Het
Pgk1 C A X: 105,238,098 (GRCm39) L85I possibly damaging Het
Rad23b C T 4: 55,370,400 (GRCm39) A142V probably damaging Het
Satl1 T C X: 111,315,613 (GRCm39) T281A probably benign Het
Spmap2 A G 10: 79,420,589 (GRCm39) S159P probably damaging Het
Tbx5 T C 5: 120,021,211 (GRCm39) S406P probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Zfp1 T C 8: 112,396,975 (GRCm39) F299S 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
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
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'- TCTAATGCACTTTGTAGAGTCATGC -3'
(R):5'- AGCCCACATTGGTCTGTTGC -3'

Sequencing Primer
(F):5'- GTAGAGTCATGCCTTTGAACAAACC -3'
(R):5'- CTGTTGCCTGTGACCCGTAAG -3'
Posted On 2018-04-12