Incidental Mutation 'R1373:Adamdec1'
| ID |
157415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamdec1
|
| Ensembl Gene |
ENSMUSG00000022057 |
| Gene Name |
ADAM-like, decysin 1 |
| Synonyms |
Dcsn, 2210414L24Rik |
| MMRRC Submission |
039437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1373 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
68800829-68819535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 68808400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 317
(R317C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022641]
|
| AlphaFold |
Q9R0X2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022641
AA Change: R317C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022641
Gene: ENSMUSG00000022057
AA Change: R317C
| 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 |
|
| Meta Mutation Damage Score |
0.3522 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.2%
|
| Validation Efficiency |
94% (34/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
C |
8: 84,664,392 (GRCm39) |
V1261A |
probably benign |
Het |
| Btla |
G |
A |
16: 45,044,783 (GRCm39) |
G23D |
probably benign |
Het |
| Card19 |
T |
C |
13: 49,357,440 (GRCm39) |
D110G |
probably damaging |
Het |
| Cbx7 |
C |
T |
15: 79,803,074 (GRCm39) |
G160R |
probably damaging |
Het |
| Ccng2 |
C |
T |
5: 93,418,914 (GRCm39) |
|
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,667,808 (GRCm39) |
|
probably benign |
Het |
| Colgalt2 |
A |
G |
1: 152,348,912 (GRCm39) |
T186A |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,268,583 (GRCm39) |
N1437S |
possibly damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,735,079 (GRCm39) |
I676V |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,314,064 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,768,904 (GRCm39) |
S1758P |
probably benign |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Ice2 |
G |
A |
9: 69,314,401 (GRCm39) |
R50H |
probably benign |
Het |
| Ifi207 |
T |
A |
1: 173,557,913 (GRCm39) |
D275V |
unknown |
Het |
| Nrxn2 |
C |
T |
19: 6,522,331 (GRCm39) |
T190M |
probably damaging |
Het |
| Odad4 |
T |
C |
11: 100,436,658 (GRCm39) |
F11S |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,251 (GRCm39) |
I221M |
probably damaging |
Het |
| Or2ag17 |
C |
T |
7: 106,389,963 (GRCm39) |
V82I |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,715,544 (GRCm39) |
L1494P |
probably damaging |
Het |
| Pitrm1 |
G |
T |
13: 6,620,736 (GRCm39) |
M739I |
probably benign |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Sfr1 |
C |
G |
19: 47,723,355 (GRCm39) |
D286E |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,803,374 (GRCm39) |
S1147P |
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
| Tgfbr3 |
T |
C |
5: 107,362,809 (GRCm39) |
I68V |
probably benign |
Het |
| Tpmt |
A |
C |
13: 47,180,734 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
A |
G |
7: 142,640,579 (GRCm39) |
|
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,859,273 (GRCm39) |
|
probably benign |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,834,793 (GRCm39) |
K1707N |
probably damaging |
Het |
|
| Other mutations in Adamdec1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
R0416:Adamdec1
|
UTSW |
14 |
68,806,161 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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'- GGCACATGATACCCAGTATGCACAC -3'
(R):5'- CTCAGGTGAATCCCTTCTTGCCAG -3'
Sequencing Primer
(F):5'- GCTATCTGATGCCATAGAGGTAACC -3'
(R):5'- CCTTGAAGTACGTGAAGGTCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation