Incidental Mutation 'IGL01444:Adam25'
| ID |
84347 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam25
|
| Ensembl Gene |
ENSMUSG00000071937 |
| Gene Name |
a disintegrin and metallopeptidase domain 25 (testase 2) |
| Synonyms |
testase 2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL01444
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
40752208-40756176 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40754921 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 408
(R408H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096663]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096663
AA Change: R408H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: R408H
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010F05Rik |
T |
G |
11: 23,620,225 (GRCm38) |
|
probably benign |
Het |
| Adad1 |
A |
T |
3: 37,092,034 (GRCm38) |
N517I |
probably damaging |
Het |
| Ang |
C |
A |
14: 51,101,667 (GRCm38) |
Y88* |
probably null |
Het |
| Ankrd42 |
T |
C |
7: 92,610,585 (GRCm38) |
T327A |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,631,687 (GRCm38) |
D2696G |
probably damaging |
Het |
| Chd3 |
G |
A |
11: 69,348,742 (GRCm38) |
T1717M |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,200,055 (GRCm38) |
M970L |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,748,977 (GRCm38) |
I121M |
possibly damaging |
Het |
| Dnah11 |
G |
A |
12: 118,020,232 (GRCm38) |
S2506F |
possibly damaging |
Het |
| Dscam |
T |
A |
16: 96,673,709 (GRCm38) |
I1218F |
possibly damaging |
Het |
| Duox1 |
T |
C |
2: 122,340,090 (GRCm38) |
L1197P |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 141,361,375 (GRCm38) |
|
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,206,935 (GRCm38) |
K49R |
probably damaging |
Het |
| Exoc8 |
T |
A |
8: 124,895,841 (GRCm38) |
T596S |
possibly damaging |
Het |
| F13a1 |
C |
T |
13: 36,918,577 (GRCm38) |
G391R |
probably null |
Het |
| Fam35a |
C |
A |
14: 34,237,557 (GRCm38) |
V823F |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,998,848 (GRCm38) |
S1953T |
probably damaging |
Het |
| Gls2 |
C |
A |
10: 128,201,347 (GRCm38) |
N252K |
probably damaging |
Het |
| Gm5346 |
A |
T |
8: 43,626,433 (GRCm38) |
D251E |
probably benign |
Het |
| Haus2 |
G |
A |
2: 120,615,942 (GRCm38) |
R115K |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,884,379 (GRCm38) |
K262E |
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,198,378 (GRCm38) |
C533Y |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,443,716 (GRCm38) |
F3997I |
possibly damaging |
Het |
| Nt5c1a |
C |
T |
4: 123,216,169 (GRCm38) |
R354W |
probably damaging |
Het |
| Olfr776 |
T |
A |
10: 129,261,335 (GRCm38) |
C125S |
probably damaging |
Het |
| Pcolce |
A |
T |
5: 137,607,476 (GRCm38) |
S200R |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,179,297 (GRCm38) |
V2213A |
possibly damaging |
Het |
| Prmt3 |
T |
A |
7: 49,780,372 (GRCm38) |
D74E |
probably benign |
Het |
| Ptk7 |
A |
G |
17: 46,565,387 (GRCm38) |
F1046S |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,475,300 (GRCm38) |
Y887H |
possibly damaging |
Het |
| Sez6l2 |
G |
A |
7: 126,961,883 (GRCm38) |
E447K |
possibly damaging |
Het |
| Snrnp70 |
C |
T |
7: 45,387,236 (GRCm38) |
|
probably null |
Het |
| Timm10 |
T |
A |
2: 84,829,864 (GRCm38) |
V49E |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,225,466 (GRCm38) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,998,789 (GRCm38) |
M1K |
probably null |
Het |
| Usp32 |
A |
C |
11: 85,059,164 (GRCm38) |
L223V |
probably damaging |
Het |
| Zeb1 |
G |
T |
18: 5,767,906 (GRCm38) |
A806S |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 (GRCm38) |
S550P |
probably benign |
Het |
|
| Other mutations in Adam25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01977:Adam25
|
APN |
8 |
40,755,097 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02098:Adam25
|
APN |
8 |
40,755,643 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02233:Adam25
|
APN |
8 |
40,755,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02458:Adam25
|
APN |
8 |
40,753,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02527:Adam25
|
APN |
8 |
40,753,748 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL02632:Adam25
|
APN |
8 |
40,755,200 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02995:Adam25
|
APN |
8 |
40,753,723 (GRCm38) |
missense |
probably benign |
0.00 |
|
H8786:Adam25
|
UTSW |
8 |
40,754,224 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0062:Adam25
|
UTSW |
8 |
40,754,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0062:Adam25
|
UTSW |
8 |
40,754,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0189:Adam25
|
UTSW |
8 |
40,755,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0505:Adam25
|
UTSW |
8 |
40,755,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0532:Adam25
|
UTSW |
8 |
40,755,950 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0699:Adam25
|
UTSW |
8 |
40,755,974 (GRCm38) |
missense |
probably benign |
|
|
R0972:Adam25
|
UTSW |
8 |
40,755,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1053:Adam25
|
UTSW |
8 |
40,754,731 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1079:Adam25
|
UTSW |
8 |
40,755,476 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1872:Adam25
|
UTSW |
8 |
40,755,226 (GRCm38) |
nonsense |
probably null |
|
|
R1933:Adam25
|
UTSW |
8 |
40,754,885 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1934:Adam25
|
UTSW |
8 |
40,754,885 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4061:Adam25
|
UTSW |
8 |
40,753,782 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R4702:Adam25
|
UTSW |
8 |
40,754,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4703:Adam25
|
UTSW |
8 |
40,754,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4705:Adam25
|
UTSW |
8 |
40,754,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4859:Adam25
|
UTSW |
8 |
40,754,543 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5015:Adam25
|
UTSW |
8 |
40,754,634 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5249:Adam25
|
UTSW |
8 |
40,755,954 (GRCm38) |
missense |
probably benign |
|
|
R5628:Adam25
|
UTSW |
8 |
40,755,710 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5791:Adam25
|
UTSW |
8 |
40,754,220 (GRCm38) |
missense |
probably benign |
|
|
R6439:Adam25
|
UTSW |
8 |
40,754,590 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6693:Adam25
|
UTSW |
8 |
40,754,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7041:Adam25
|
UTSW |
8 |
40,754,084 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7101:Adam25
|
UTSW |
8 |
40,755,401 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7531:Adam25
|
UTSW |
8 |
40,753,877 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7600:Adam25
|
UTSW |
8 |
40,755,817 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7634:Adam25
|
UTSW |
8 |
40,754,846 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7964:Adam25
|
UTSW |
8 |
40,755,539 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8017:Adam25
|
UTSW |
8 |
40,754,087 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8021:Adam25
|
UTSW |
8 |
40,754,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8499:Adam25
|
UTSW |
8 |
40,755,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8686:Adam25
|
UTSW |
8 |
40,755,484 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8715:Adam25
|
UTSW |
8 |
40,754,062 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8847:Adam25
|
UTSW |
8 |
40,753,709 (GRCm38) |
missense |
probably benign |
|
|
R8921:Adam25
|
UTSW |
8 |
40,754,673 (GRCm38) |
nonsense |
probably null |
|
|
R9120:Adam25
|
UTSW |
8 |
40,756,104 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R9158:Adam25
|
UTSW |
8 |
40,755,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9339:Adam25
|
UTSW |
8 |
40,753,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9348:Adam25
|
UTSW |
8 |
40,755,916 (GRCm38) |
missense |
probably benign |
|
|
R9454:Adam25
|
UTSW |
8 |
40,754,449 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9492:Adam25
|
UTSW |
8 |
40,753,699 (GRCm38) |
start codon destroyed |
probably benign |
0.12 |
|
R9680:Adam25
|
UTSW |
8 |
40,755,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF006:Adam25
|
UTSW |
8 |
40,755,797 (GRCm38) |
missense |
probably benign |
|
|
| Posted On |
2013-11-11 |
Incidental Mutation