Incidental Mutation 'IGL01691:Adamdec1'
ID 104115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamdec1
Ensembl Gene ENSMUSG00000022057
Gene Name ADAM-like, decysin 1
Synonyms Dcsn, 2210414L24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01691
Quality Score
Status
Chromosome 14
Chromosomal Location 68800829-68819535 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68810556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 200 (R200Q)
Ref Sequence ENSEMBL: ENSMUSP00000022641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022641]
AlphaFold Q9R0X2
Predicted Effect probably damaging
Transcript: ENSMUST00000022641
AA Change: R200Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: R200Q

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
Coding Region Coverage
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a T A 3: 32,774,349 (GRCm39) M282K possibly damaging Het
Adam22 T C 5: 8,142,742 (GRCm39) N831S probably damaging Het
Asb15 A G 6: 24,567,271 (GRCm39) I531V probably benign Het
Btrc T A 19: 45,501,117 (GRCm39) D223E probably benign Het
Ccdc30 T A 4: 119,250,761 (GRCm39) E161V probably damaging Het
Cd38 G A 5: 44,060,928 (GRCm39) probably benign Het
Clec2d T C 6: 129,161,185 (GRCm39) F94S probably damaging Het
Cwf19l1 C T 19: 44,109,311 (GRCm39) probably null Het
Dnah2 A T 11: 69,430,269 (GRCm39) N96K probably benign Het
Ephb6 G A 6: 41,591,449 (GRCm39) R202H probably benign Het
Gm43191 T A 3: 116,471,616 (GRCm39) I218L probably benign Het
Gm7168 G A 17: 14,169,140 (GRCm39) S169N probably damaging Het
Gm7964 T C 7: 83,405,344 (GRCm39) noncoding transcript Het
Kif20b T C 19: 34,913,143 (GRCm39) probably benign Het
Kmt2e A G 5: 23,702,089 (GRCm39) T906A probably benign Het
Mboat2 A G 12: 25,004,221 (GRCm39) N341D probably damaging Het
Msh6 T C 17: 88,292,907 (GRCm39) V554A probably benign Het
Ndc80 T C 17: 71,815,634 (GRCm39) T384A possibly damaging Het
Or1af1 G T 2: 37,110,038 (GRCm39) C179F probably damaging Het
Or8g18 G A 9: 39,149,315 (GRCm39) T135I probably benign Het
Ptpn5 G T 7: 46,732,906 (GRCm39) H312Q probably benign Het
Rftn2 C T 1: 55,253,445 (GRCm39) V53I probably damaging Het
Rgs20 T C 1: 4,987,145 (GRCm39) T124A probably benign Het
Sox18 T C 2: 181,313,143 (GRCm39) S58G possibly damaging Het
Togaram2 A G 17: 72,036,485 (GRCm39) M1012V probably null Het
Usp48 A T 4: 137,350,583 (GRCm39) probably null Het
Other mutations in Adamdec1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0416:Adamdec1 UTSW 14 68,806,161 (GRCm39) missense possibly damaging 0.79
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
Posted On 2014-01-21