Incidental Mutation 'IGL02233:Adam25'
| ID |
285806 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam25
|
| Ensembl Gene |
ENSMUSG00000071937 |
| Gene Name |
ADAM metallopeptidase domain 25 |
| Synonyms |
testase 2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL02233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41205245-41209213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41208423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 563
(Y563C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096663]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096663
AA Change: Y563C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: Y563C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
53 |
179 |
3.4e-21 |
PFAM |
|
Pfam:Reprolysin_5
|
220 |
398 |
1.6e-16 |
PFAM |
|
Pfam:Reprolysin_4
|
220 |
407 |
2.5e-13 |
PFAM |
|
Pfam:Reprolysin
|
221 |
410 |
5.6e-46 |
PFAM |
|
Pfam:Reprolysin_2
|
222 |
399 |
9.7e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
246 |
366 |
1e-18 |
PFAM |
|
DISIN
|
428 |
503 |
3.33e-39 |
SMART |
|
ACR
|
504 |
640 |
8.95e-74 |
SMART |
|
transmembrane domain
|
706 |
728 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. This gene is located adjacent to other ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,165,170 (GRCm39) |
Q1581* |
probably null |
Het |
| Abcc10 |
A |
T |
17: 46,635,085 (GRCm39) |
|
probably null |
Het |
| Cnr2 |
T |
A |
4: 135,644,522 (GRCm39) |
I200N |
possibly damaging |
Het |
| Col5a2 |
T |
C |
1: 45,422,747 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
T |
C |
6: 30,557,666 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,917,953 (GRCm39) |
V534A |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 92,093,746 (GRCm39) |
D845V |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,925,487 (GRCm39) |
|
probably null |
Het |
| Ephb4 |
T |
A |
5: 137,352,763 (GRCm39) |
Y115* |
probably null |
Het |
| Evc2 |
A |
G |
5: 37,535,681 (GRCm39) |
Y452C |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,163,530 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
A |
T |
10: 75,844,334 (GRCm39) |
|
probably null |
Het |
| Gpr157 |
A |
G |
4: 150,186,184 (GRCm39) |
T249A |
possibly damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,308 (GRCm39) |
T91A |
probably benign |
Het |
| Lin9 |
C |
A |
1: 180,516,865 (GRCm39) |
A535E |
probably damaging |
Het |
| Muc1 |
G |
A |
3: 89,138,935 (GRCm39) |
V515I |
probably benign |
Het |
| Mup3 |
A |
G |
4: 62,003,016 (GRCm39) |
I170T |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,291,081 (GRCm39) |
|
probably benign |
Het |
| Or3a1d |
A |
G |
11: 74,238,254 (GRCm39) |
V52A |
possibly damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,538 (GRCm39) |
Y259C |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 109,877,084 (GRCm39) |
S202P |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,158,185 (GRCm39) |
V676A |
probably benign |
Het |
| Rasl10a |
C |
A |
11: 5,008,333 (GRCm39) |
L10M |
probably damaging |
Het |
| Rilp |
T |
C |
11: 75,403,538 (GRCm39) |
Y327H |
probably damaging |
Het |
| Sec23ip |
A |
G |
7: 128,380,903 (GRCm39) |
S957G |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,406,050 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,555,257 (GRCm39) |
H209R |
probably benign |
Het |
| Trav14-3 |
T |
C |
14: 54,000,643 (GRCm39) |
|
probably benign |
Het |
| Vipr2 |
A |
G |
12: 116,058,356 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Adam25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01444:Adam25
|
APN |
8 |
41,207,958 (GRCm39) |
missense |
probably benign |
|
|
IGL01977:Adam25
|
APN |
8 |
41,208,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02098:Adam25
|
APN |
8 |
41,208,680 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02458:Adam25
|
APN |
8 |
41,206,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02527:Adam25
|
APN |
8 |
41,206,785 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02632:Adam25
|
APN |
8 |
41,208,237 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02995:Adam25
|
APN |
8 |
41,206,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
H8786:Adam25
|
UTSW |
8 |
41,207,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0062:Adam25
|
UTSW |
8 |
41,207,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Adam25
|
UTSW |
8 |
41,207,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0189:Adam25
|
UTSW |
8 |
41,208,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Adam25
|
UTSW |
8 |
41,208,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Adam25
|
UTSW |
8 |
41,208,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0699:Adam25
|
UTSW |
8 |
41,209,011 (GRCm39) |
missense |
probably benign |
|
|
R0972:Adam25
|
UTSW |
8 |
41,208,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1053:Adam25
|
UTSW |
8 |
41,207,768 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1079:Adam25
|
UTSW |
8 |
41,208,513 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1872:Adam25
|
UTSW |
8 |
41,208,263 (GRCm39) |
nonsense |
probably null |
|
|
R1933:Adam25
|
UTSW |
8 |
41,207,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1934:Adam25
|
UTSW |
8 |
41,207,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4061:Adam25
|
UTSW |
8 |
41,206,819 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4702:Adam25
|
UTSW |
8 |
41,207,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Adam25
|
UTSW |
8 |
41,207,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Adam25
|
UTSW |
8 |
41,207,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Adam25
|
UTSW |
8 |
41,207,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5015:Adam25
|
UTSW |
8 |
41,207,671 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5249:Adam25
|
UTSW |
8 |
41,208,991 (GRCm39) |
missense |
probably benign |
|
|
R5628:Adam25
|
UTSW |
8 |
41,208,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5791:Adam25
|
UTSW |
8 |
41,207,257 (GRCm39) |
missense |
probably benign |
|
|
R6439:Adam25
|
UTSW |
8 |
41,207,627 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6693:Adam25
|
UTSW |
8 |
41,207,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7041:Adam25
|
UTSW |
8 |
41,207,121 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7101:Adam25
|
UTSW |
8 |
41,208,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7531:Adam25
|
UTSW |
8 |
41,206,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7600:Adam25
|
UTSW |
8 |
41,208,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7634:Adam25
|
UTSW |
8 |
41,207,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7964:Adam25
|
UTSW |
8 |
41,208,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8017:Adam25
|
UTSW |
8 |
41,207,124 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8021:Adam25
|
UTSW |
8 |
41,207,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Adam25
|
UTSW |
8 |
41,208,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8686:Adam25
|
UTSW |
8 |
41,208,521 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8715:Adam25
|
UTSW |
8 |
41,207,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8847:Adam25
|
UTSW |
8 |
41,206,746 (GRCm39) |
missense |
probably benign |
|
|
R8921:Adam25
|
UTSW |
8 |
41,207,710 (GRCm39) |
nonsense |
probably null |
|
|
R9120:Adam25
|
UTSW |
8 |
41,209,141 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9158:Adam25
|
UTSW |
8 |
41,208,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Adam25
|
UTSW |
8 |
41,206,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Adam25
|
UTSW |
8 |
41,208,953 (GRCm39) |
missense |
probably benign |
|
|
R9454:Adam25
|
UTSW |
8 |
41,207,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9492:Adam25
|
UTSW |
8 |
41,206,736 (GRCm39) |
start codon destroyed |
probably benign |
0.12 |
|
R9680:Adam25
|
UTSW |
8 |
41,208,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF006:Adam25
|
UTSW |
8 |
41,208,834 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation