Incidental Mutation 'R0416:Adamdec1'
ID 40345
Institutional Source Beutler Lab
Gene Symbol Adamdec1
Ensembl Gene ENSMUSG00000022057
Gene Name ADAM-like, decysin 1
Synonyms Dcsn, 2210414L24Rik
MMRRC Submission 038618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R0416 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 68800829-68819535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 68806161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 438 (E438A)
Ref Sequence ENSEMBL: ENSMUSP00000022641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022641]
AlphaFold Q9R0X2
Predicted Effect possibly damaging
Transcript: ENSMUST00000022641
AA Change: E438A

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: E438A

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Pep_M12B_propep 37 175 3.9e-29 PFAM
Pfam:Reprolysin_5 215 389 9.8e-17 PFAM
Pfam:Reprolysin_4 216 407 7.3e-12 PFAM
Pfam:Reprolysin 217 411 1.5e-57 PFAM
Pfam:Reprolysin_3 242 360 1e-11 PFAM
DISIN 427 465 1.12e-3 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 91.8%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,162,779 (GRCm39) I18V probably benign Het
Adamts17 A G 7: 66,565,646 (GRCm39) probably null Het
Ankrd44 T G 1: 54,782,498 (GRCm39) I359L possibly damaging Het
Ap2s1 C A 7: 16,481,290 (GRCm39) N86K probably damaging Het
Arih1 T A 9: 59,333,993 (GRCm39) probably benign Het
Astn1 T A 1: 158,337,461 (GRCm39) I389N probably damaging Het
Brca2 T C 5: 150,492,857 (GRCm39) S3291P possibly damaging Het
Cacna1d T C 14: 29,822,645 (GRCm39) probably benign Het
Ccl7 C A 11: 81,936,692 (GRCm39) probably benign Het
Cd74 A T 18: 60,944,486 (GRCm39) Y232F possibly damaging Het
Cep128 A G 12: 91,197,641 (GRCm39) probably benign Het
Cep89 T A 7: 35,115,827 (GRCm39) probably benign Het
Cmya5 T G 13: 93,226,364 (GRCm39) N2908T probably benign Het
Coil T C 11: 88,872,812 (GRCm39) L391S possibly damaging Het
Cpd C T 11: 76,676,030 (GRCm39) V1208I probably benign Het
Ddx19a T C 8: 111,705,689 (GRCm39) D254G probably damaging Het
Desi2 T A 1: 178,083,887 (GRCm39) probably benign Het
Dnah11 A T 12: 117,874,793 (GRCm39) M4024K probably damaging Het
Ergic2 A T 6: 148,084,642 (GRCm39) L53H probably damaging Het
Etv2 T C 7: 30,334,058 (GRCm39) Y225C probably benign Het
F10 G A 8: 13,105,448 (GRCm39) A338T probably damaging Het
Fam228b T A 12: 4,812,382 (GRCm39) D132V probably damaging Het
Fat2 T A 11: 55,174,960 (GRCm39) I1918F possibly damaging Het
Fbxw5 C T 2: 25,393,251 (GRCm39) S214F probably damaging Het
Glyat G A 19: 12,628,817 (GRCm39) R204Q possibly damaging Het
Gm4825 T C 15: 85,395,182 (GRCm39) noncoding transcript Het
Ino80d G T 1: 63,125,435 (GRCm39) T9K possibly damaging Het
Lifr A T 15: 7,196,395 (GRCm39) D193V probably damaging Het
Lrp12 G T 15: 39,742,307 (GRCm39) probably benign Het
Lrp3 A G 7: 34,901,778 (GRCm39) V701A probably benign Het
Mfsd11 T A 11: 116,756,708 (GRCm39) probably benign Het
Mrto4 A T 4: 139,077,043 (GRCm39) probably null Het
Msi1 T C 5: 115,568,708 (GRCm39) F43L possibly damaging Het
Mthfsd T C 8: 121,827,976 (GRCm39) D168G probably damaging Het
Myo15a T A 11: 60,402,000 (GRCm39) V3099E probably damaging Het
Myrf T C 19: 10,193,176 (GRCm39) probably null Het
Nadk C A 4: 155,672,256 (GRCm39) probably benign Het
Nav1 T C 1: 135,398,864 (GRCm39) K573E possibly damaging Het
Ndufs3 A G 2: 90,728,732 (GRCm39) V207A probably damaging Het
Nlrp3 T C 11: 59,446,750 (GRCm39) probably benign Het
Nlrx1 T G 9: 44,174,211 (GRCm39) D330A probably benign Het
Or2a56 G A 6: 42,932,504 (GRCm39) C24Y probably benign Het
Or2t49 T C 11: 58,393,222 (GRCm39) I53M unknown Het
Osbpl3 C T 6: 50,324,998 (GRCm39) V167I probably benign Het
Pcnx1 A T 12: 82,021,240 (GRCm39) I1410F probably benign Het
Piezo2 G A 18: 63,157,562 (GRCm39) R2383C probably damaging Het
Pip5kl1 A T 2: 32,473,436 (GRCm39) K358* probably null Het
Polg T C 7: 79,101,988 (GRCm39) probably benign Het
Prr14l T A 5: 32,986,061 (GRCm39) I1145F probably benign Het
Psmb1 C T 17: 15,714,781 (GRCm39) V39I probably benign Het
Ptk6 T C 2: 180,844,101 (GRCm39) Y66C possibly damaging Het
Robo4 T C 9: 37,316,062 (GRCm39) probably benign Het
Sdk2 A G 11: 113,694,029 (GRCm39) Y1801H probably damaging Het
Serpinb3a C A 1: 106,977,116 (GRCm39) A95S probably benign Het
Setd1a CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG 7: 127,384,469 (GRCm39) probably benign Het
Sik2 A T 9: 50,906,932 (GRCm39) Y98N probably damaging Het
Slc30a1 C T 1: 191,641,838 (GRCm39) P495S probably benign Het
Smg1 A T 7: 117,783,684 (GRCm39) probably benign Het
Stk3 T A 15: 35,114,778 (GRCm39) I45L probably benign Het
Tapbp A G 17: 34,144,392 (GRCm39) T163A probably damaging Het
Tdrd5 T C 1: 156,113,051 (GRCm39) K410E probably damaging Het
Trim30b A T 7: 104,012,973 (GRCm39) M152K probably benign Het
Trpm6 G T 19: 18,760,389 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,742,743 (GRCm39) probably benign Het
U2surp A T 9: 95,367,660 (GRCm39) F444I probably damaging Het
Vmn2r95 C T 17: 18,661,664 (GRCm39) P470L probably damaging Het
Zc3h4 T G 7: 16,154,200 (GRCm39) Y163D probably damaging Het
Zfp62 A T 11: 49,106,503 (GRCm39) H198L probably damaging Het
Zmym1 A G 4: 126,952,613 (GRCm39) L56P probably benign Het
Other mutations in Adamdec1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01691:Adamdec1 APN 14 68,810,556 (GRCm39) missense probably damaging 1.00
IGL02026:Adamdec1 APN 14 68,809,251 (GRCm39) missense possibly damaging 0.81
IGL02068:Adamdec1 APN 14 68,814,558 (GRCm39) missense probably benign 0.21
IGL02416:Adamdec1 APN 14 68,810,282 (GRCm39) missense probably null 0.99
IGL02739:Adamdec1 APN 14 68,807,605 (GRCm39) nonsense probably null
IGL03078:Adamdec1 APN 14 68,806,299 (GRCm39) missense possibly damaging 0.53
IGL03115:Adamdec1 APN 14 68,808,802 (GRCm39) missense probably damaging 1.00
R0201:Adamdec1 UTSW 14 68,819,406 (GRCm39) critical splice donor site probably null
R0243:Adamdec1 UTSW 14 68,819,407 (GRCm39) critical splice donor site probably null
R0244:Adamdec1 UTSW 14 68,806,172 (GRCm39) nonsense probably null
R1373:Adamdec1 UTSW 14 68,808,400 (GRCm39) missense probably damaging 1.00
R1856:Adamdec1 UTSW 14 68,808,397 (GRCm39) missense probably damaging 1.00
R2570:Adamdec1 UTSW 14 68,816,657 (GRCm39) missense probably damaging 0.98
R3684:Adamdec1 UTSW 14 68,819,447 (GRCm39) missense probably benign 0.04
R3755:Adamdec1 UTSW 14 68,814,587 (GRCm39) missense probably damaging 1.00
R4450:Adamdec1 UTSW 14 68,810,568 (GRCm39) missense probably benign 0.00
R4661:Adamdec1 UTSW 14 68,807,562 (GRCm39) missense probably damaging 1.00
R4672:Adamdec1 UTSW 14 68,815,353 (GRCm39) nonsense probably null
R4673:Adamdec1 UTSW 14 68,815,353 (GRCm39) nonsense probably null
R4902:Adamdec1 UTSW 14 68,809,215 (GRCm39) missense probably damaging 0.99
R5017:Adamdec1 UTSW 14 68,810,694 (GRCm39) missense probably benign 0.01
R5018:Adamdec1 UTSW 14 68,809,228 (GRCm39) missense probably damaging 1.00
R5141:Adamdec1 UTSW 14 68,810,577 (GRCm39) missense probably benign 0.00
R5329:Adamdec1 UTSW 14 68,807,612 (GRCm39) missense probably damaging 1.00
R5395:Adamdec1 UTSW 14 68,808,352 (GRCm39) missense probably benign 0.04
R5864:Adamdec1 UTSW 14 68,807,551 (GRCm39) missense probably damaging 1.00
R6032:Adamdec1 UTSW 14 68,816,633 (GRCm39) missense probably damaging 1.00
R6032:Adamdec1 UTSW 14 68,816,633 (GRCm39) missense probably damaging 1.00
R6114:Adamdec1 UTSW 14 68,809,252 (GRCm39) missense probably benign 0.00
R6633:Adamdec1 UTSW 14 68,810,601 (GRCm39) missense probably benign 0.03
R7243:Adamdec1 UTSW 14 68,809,203 (GRCm39) missense probably benign 0.06
R7580:Adamdec1 UTSW 14 68,802,980 (GRCm39) missense probably benign 0.00
R8388:Adamdec1 UTSW 14 68,810,684 (GRCm39) nonsense probably null
R9133:Adamdec1 UTSW 14 68,814,547 (GRCm39) nonsense probably null
X0025:Adamdec1 UTSW 14 68,807,607 (GRCm39) missense probably damaging 1.00
X0050:Adamdec1 UTSW 14 68,807,607 (GRCm39) missense probably damaging 1.00
X0062:Adamdec1 UTSW 14 68,810,701 (GRCm39) missense probably benign 0.12
Z1177:Adamdec1 UTSW 14 68,818,092 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCAATGGGTAGTGGCTCACTTCTTC -3'
(R):5'- CCCCAAGGATTTCAGTACCGTCAG -3'

Sequencing Primer
(F):5'- gccagttcaaaaccacttgtatc -3'
(R):5'- AGCCGTTCTCATTTTCAAGGG -3'
Posted On 2013-05-23