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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |