Incidental Mutation 'R7405:Adam39'
ID 574512
Institutional Source Beutler Lab
Gene Symbol Adam39
Ensembl Gene ENSMUSG00000054033
Gene Name a disintegrin and metallopeptidase domain 39
Synonyms 1700056P18Rik, testase 9
MMRRC Submission 045376-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R7405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 41276046-41279898 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41277659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 17 (I17L)
Ref Sequence ENSEMBL: ENSMUSP00000065783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066814]
AlphaFold Q7M762
Predicted Effect probably benign
Transcript: ENSMUST00000066814
AA Change: I17L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: I17L

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,220,649 (GRCm39) V383L probably damaging Het
4930507D05Rik C A 10: 62,285,563 (GRCm39) H96N unknown Het
5730480H06Rik T C 5: 48,545,458 (GRCm39) I235T possibly damaging Het
Abcb11 A G 2: 69,117,963 (GRCm39) Y472H probably damaging Het
Aire T C 10: 77,870,447 (GRCm39) H458R probably benign Het
Ap3d1 T C 10: 80,577,734 (GRCm39) D31G probably benign Het
Atad2b T A 12: 4,993,232 (GRCm39) H250Q probably benign Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Borcs5 C A 6: 134,662,945 (GRCm39) T74N probably benign Het
Btbd16 C T 7: 130,407,586 (GRCm39) T292I probably benign Het
Catsperd G A 17: 56,939,335 (GRCm39) V55M possibly damaging Het
Cfap107 T C 4: 144,146,323 (GRCm39) N110S probably damaging Het
Ctr9 T C 7: 110,642,921 (GRCm39) F462S possibly damaging Het
Cyp4f39 A G 17: 32,700,789 (GRCm39) S153G probably benign Het
Ddo T C 10: 40,523,993 (GRCm39) C328R possibly damaging Het
Ddr1 A G 17: 36,000,992 (GRCm39) V251A probably damaging Het
Dis3l A G 9: 64,221,986 (GRCm39) F475L probably damaging Het
Dkk4 G A 8: 23,115,859 (GRCm39) V99M probably benign Het
Dync1h1 C T 12: 110,600,654 (GRCm39) A1938V probably damaging Het
Ecel1 A T 1: 87,081,238 (GRCm39) probably null Het
Fbxo7 T A 10: 85,880,445 (GRCm39) Y377N probably damaging Het
Fbxw24 T C 9: 109,436,136 (GRCm39) I299V possibly damaging Het
Fkbp10 C T 11: 100,306,707 (GRCm39) A33V probably damaging Het
Gabra1 T C 11: 42,045,850 (GRCm39) T87A probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Golga3 A T 5: 110,356,312 (GRCm39) I1000F probably damaging Het
Grid2ip T C 5: 143,366,199 (GRCm39) I563T probably benign Het
Gsx1 T C 5: 147,125,943 (GRCm39) S82P possibly damaging Het
Heg1 A G 16: 33,583,819 (GRCm39) K34E possibly damaging Het
Kank1 T A 19: 25,387,683 (GRCm39) L452* probably null Het
Lce1k A T 3: 92,714,181 (GRCm39) M1K probably null Het
Lcmt2 A G 2: 120,969,868 (GRCm39) I185T probably benign Het
Lrp1 T C 10: 127,417,620 (GRCm39) D1046G possibly damaging Het
Lrrc37 A T 11: 103,505,987 (GRCm39) Y1994N probably benign Het
Mast3 A T 8: 71,238,815 (GRCm39) D496E probably damaging Het
Mst1r C T 9: 107,792,321 (GRCm39) S925F possibly damaging Het
Mterf2 C T 10: 84,956,360 (GRCm39) G88D probably damaging Het
Mthfd1 T C 12: 76,358,648 (GRCm39) V783A probably damaging Het
Mybpc2 A T 7: 44,156,618 (GRCm39) W778R probably damaging Het
Nbea A G 3: 55,712,687 (GRCm39) L2130P possibly damaging Het
Ndst4 A G 3: 125,476,865 (GRCm39) N30S probably benign Het
Nphs1 T C 7: 30,162,253 (GRCm39) V299A possibly damaging Het
Nup107 T C 10: 117,606,320 (GRCm39) D474G probably benign Het
Or10ag56 A C 2: 87,139,339 (GRCm39) I89L probably benign Het
Or10w1 T C 19: 13,632,246 (GRCm39) V151A probably benign Het
Or2w25 T A 11: 59,504,899 (GRCm39) F370I possibly damaging Het
Or7a42 T C 10: 78,791,531 (GRCm39) V164A probably benign Het
Pgap2 T C 7: 101,880,595 (GRCm39) V41A probably benign Het
Plekhh1 C T 12: 79,101,821 (GRCm39) T297I probably benign Het
Plxna4 A T 6: 32,173,254 (GRCm39) Y1226N probably benign Het
Polr3b A G 10: 84,520,043 (GRCm39) D653G probably benign Het
Ppp2r2c T C 5: 37,104,486 (GRCm39) F289L possibly damaging Het
Prickle2 A G 6: 92,435,524 (GRCm39) S82P probably damaging Het
Ptger2 T A 14: 45,226,531 (GRCm39) V37D probably damaging Het
Rasa2 G A 9: 96,448,080 (GRCm39) P526S probably benign Het
Rbm47 A T 5: 66,183,838 (GRCm39) I255N probably damaging Het
Sez6 A T 11: 77,853,717 (GRCm39) T296S probably benign Het
Slc2a9 T A 5: 38,549,167 (GRCm39) I316F probably damaging Het
Slc41a1 T A 1: 131,766,884 (GRCm39) V134D probably damaging Het
Slc5a7 A T 17: 54,604,161 (GRCm39) S2T probably benign Het
Slc9a4 C T 1: 40,640,086 (GRCm39) R293C probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Suco A G 1: 161,655,783 (GRCm39) F1039L possibly damaging Het
Sycp1 A G 3: 102,832,543 (GRCm39) Y208H possibly damaging Het
Tpr T C 1: 150,317,878 (GRCm39) S2129P probably benign Het
Trim34b T A 7: 103,985,690 (GRCm39) S442T probably damaging Het
Ttn A T 2: 76,573,690 (GRCm39) Y25734* probably null Het
Uchl5 C T 1: 143,675,752 (GRCm39) Q276* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Yeats2 T A 16: 20,041,663 (GRCm39) D1184E probably damaging Het
Zfat G A 15: 68,056,334 (GRCm39) R241W probably damaging Het
Zfp646 T A 7: 127,477,968 (GRCm39) Y48* probably null Het
Zfp998 T C 13: 66,579,118 (GRCm39) Q455R unknown 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
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
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'- GAGTCATGCCTTTGAACAAACCTC -3'
(R):5'- TAGGTCAGCCATCCCATAGC -3'

Sequencing Primer
(F):5'- AGCCATTTAAGCTCACATCTTG -3'
(R):5'- ATAGCCCACATTGGTCTGTTG -3'
Posted On 2019-09-13