Incidental Mutation 'IGL02068:Adamdec1'
ID185710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamdec1
Ensembl Gene ENSMUSG00000022057
Gene NameADAM-like, decysin 1
Synonyms2210414L24Rik, Dcsn
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02068
Quality Score
Status
Chromosome14
Chromosomal Location68563380-68582095 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 68577109 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 140 (I140F)
Ref Sequence ENSEMBL: ENSMUSP00000022641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022641]
Predicted Effect probably benign
Transcript: ENSMUST00000022641
AA Change: I140F

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: I140F

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cfap58 T C 19: 47,986,512 L704P probably damaging Het
Cnnm2 T C 19: 46,877,388 V805A possibly damaging Het
Dnah9 T C 11: 66,061,045 E1876G probably damaging Het
Dock1 A T 7: 134,771,548 E548V probably benign Het
Esm1 T G 13: 113,210,096 F85C probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fcer1a C T 1: 173,225,504 G42R probably damaging Het
Fcer1g A T 1: 171,231,191 Y43N probably damaging Het
Grik1 G T 16: 87,940,651 T585K possibly damaging Het
Hnf4g T C 3: 3,644,576 I184T probably benign Het
Hsd11b1 G A 1: 193,222,046 R282* probably null Het
Lig1 T A 7: 13,292,451 probably benign Het
Olfr1402 T C 3: 97,410,906 K92E possibly damaging Het
Phip A G 9: 82,945,808 S184P probably damaging Het
Pkhd1 C T 1: 20,522,747 G1714D probably damaging Het
Plppr4 A G 3: 117,331,784 probably benign Het
Prdm10 G A 9: 31,337,350 R356Q probably damaging Het
Rasgrp1 C T 2: 117,300,578 probably benign Het
Rpap1 C T 2: 119,782,654 E138K probably benign Het
Sidt2 A C 9: 45,945,664 probably null Het
Slc28a3 A G 13: 58,558,597 L610P probably damaging Het
Slc39a10 T C 1: 46,819,439 probably benign Het
Snx18 G A 13: 113,617,065 A444V probably damaging Het
Svil A G 18: 5,092,899 E1459G probably damaging Het
Tbc1d9 T C 8: 83,239,868 L366P probably damaging Het
Tbk1 A T 10: 121,570,789 H181Q probably damaging Het
Wrn C A 8: 33,310,749 G612V probably benign Het
Xdh A G 17: 73,913,950 Y595H probably damaging Het
Other mutations in Adamdec1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01691:Adamdec1 APN 14 68573107 missense probably damaging 1.00
IGL02026:Adamdec1 APN 14 68571802 missense possibly damaging 0.81
IGL02416:Adamdec1 APN 14 68572833 missense probably null 0.99
IGL02739:Adamdec1 APN 14 68570156 nonsense probably null
IGL03078:Adamdec1 APN 14 68568850 missense possibly damaging 0.53
IGL03115:Adamdec1 APN 14 68571353 missense probably damaging 1.00
R0201:Adamdec1 UTSW 14 68581957 critical splice donor site probably null
R0243:Adamdec1 UTSW 14 68581958 critical splice donor site probably null
R0244:Adamdec1 UTSW 14 68568723 nonsense probably null
R0416:Adamdec1 UTSW 14 68568712 missense possibly damaging 0.79
R1373:Adamdec1 UTSW 14 68570951 missense probably damaging 1.00
R1856:Adamdec1 UTSW 14 68570948 missense probably damaging 1.00
R2570:Adamdec1 UTSW 14 68579208 missense probably damaging 0.98
R3684:Adamdec1 UTSW 14 68581998 missense probably benign 0.04
R3755:Adamdec1 UTSW 14 68577138 missense probably damaging 1.00
R4450:Adamdec1 UTSW 14 68573119 missense probably benign 0.00
R4661:Adamdec1 UTSW 14 68570113 missense probably damaging 1.00
R4672:Adamdec1 UTSW 14 68577904 nonsense probably null
R4673:Adamdec1 UTSW 14 68577904 nonsense probably null
R4902:Adamdec1 UTSW 14 68571766 missense probably damaging 0.99
R5017:Adamdec1 UTSW 14 68573245 missense probably benign 0.01
R5018:Adamdec1 UTSW 14 68571779 missense probably damaging 1.00
R5141:Adamdec1 UTSW 14 68573128 missense probably benign 0.00
R5329:Adamdec1 UTSW 14 68570163 missense probably damaging 1.00
R5395:Adamdec1 UTSW 14 68570903 missense probably benign 0.04
R5864:Adamdec1 UTSW 14 68570102 missense probably damaging 1.00
R6032:Adamdec1 UTSW 14 68579184 missense probably damaging 1.00
R6032:Adamdec1 UTSW 14 68579184 missense probably damaging 1.00
R6114:Adamdec1 UTSW 14 68571803 missense probably benign 0.00
R6633:Adamdec1 UTSW 14 68573152 missense probably benign 0.03
R7243:Adamdec1 UTSW 14 68571754 missense probably benign 0.06
R7580:Adamdec1 UTSW 14 68565531 missense probably benign 0.00
X0025:Adamdec1 UTSW 14 68570158 missense probably damaging 1.00
X0050:Adamdec1 UTSW 14 68570158 missense probably damaging 1.00
X0062:Adamdec1 UTSW 14 68573252 missense probably benign 0.12
Z1177:Adamdec1 UTSW 14 68580643 missense probably benign
Posted On2014-05-07