Incidental Mutation 'R8686:Adam25'
| ID |
662047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam25
|
| Ensembl Gene |
ENSMUSG00000071937 |
| Gene Name |
a disintegrin and metallopeptidase domain 25 (testase 2) |
| Synonyms |
testase 2 |
| MMRRC Submission |
068541-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R8686 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
40752208-40756176 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40755484 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 596
(T596A)
|
| 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: T596A
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: T596A
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1300017J02Rik |
C |
T |
9: 103,259,428 (GRCm38) |
A525T |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,313,699 (GRCm38) |
I303V |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,743,801 (GRCm38) |
H341Q |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,988,128 (GRCm38) |
R939H |
probably damaging |
Het |
| Ccdc114 |
A |
G |
7: 45,947,692 (GRCm38) |
T456A |
probably benign |
Het |
| Cd22 |
G |
A |
7: 30,870,069 (GRCm38) |
R541C |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,659,604 (GRCm38) |
M660K |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,095,380 (GRCm38) |
S1067T |
possibly damaging |
Het |
| Col5a2 |
C |
T |
1: 45,421,987 (GRCm38) |
G250D |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 (GRCm38) |
T331M |
unknown |
Het |
| Dgka |
A |
G |
10: 128,733,093 (GRCm38) |
M201T |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,170,805 (GRCm38) |
I1804V |
probably benign |
Het |
| Dym |
T |
A |
18: 75,286,683 (GRCm38) |
Y642N |
probably damaging |
Het |
| Efr3b |
A |
T |
12: 4,000,886 (GRCm38) |
D26E |
probably damaging |
Het |
| Emilin1 |
A |
T |
5: 30,917,696 (GRCm38) |
K427M |
possibly damaging |
Het |
| Fam187b |
T |
C |
7: 30,977,234 (GRCm38) |
L56S |
probably benign |
Het |
| Fbxo18 |
C |
T |
2: 11,755,658 (GRCm38) |
V694I |
probably benign |
Het |
| Fgd2 |
C |
T |
17: 29,379,023 (GRCm38) |
T644I |
probably benign |
Het |
| G6pc |
T |
G |
11: 101,374,707 (GRCm38) |
|
probably null |
Het |
| Gli2 |
A |
G |
1: 118,836,687 (GRCm38) |
S1245P |
probably benign |
Het |
| Gm10696 |
T |
C |
3: 94,176,120 (GRCm38) |
D128G |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,359,406 (GRCm38) |
Y355C |
|
Het |
| Ighv1-84 |
T |
C |
12: 115,980,904 (GRCm38) |
D50G |
probably benign |
Het |
| Impdh1 |
C |
A |
6: 29,216,215 (GRCm38) |
|
probably benign |
Het |
| Irf4 |
A |
T |
13: 30,761,450 (GRCm38) |
D393V |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,360,935 (GRCm38) |
L111P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,981,853 (GRCm38) |
V58A |
possibly damaging |
Het |
| Lrif1 |
C |
T |
3: 106,732,781 (GRCm38) |
T394I |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,994,073 (GRCm38) |
T434A |
probably benign |
Het |
| Mcur1 |
G |
A |
13: 43,541,717 (GRCm38) |
T327M |
probably damaging |
Het |
| Mettl7b |
A |
T |
10: 128,960,607 (GRCm38) |
M111K |
possibly damaging |
Het |
| Myo9b |
G |
T |
8: 71,334,322 (GRCm38) |
S716I |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,369,771 (GRCm38) |
|
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,368,843 (GRCm38) |
T202A |
possibly damaging |
Het |
| Olfr128 |
T |
C |
17: 37,924,277 (GRCm38) |
V237A |
probably benign |
Het |
| Olfr710 |
A |
C |
7: 106,944,698 (GRCm38) |
M101R |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,117,922 (GRCm38) |
S80T |
probably benign |
Het |
| Pde1a |
C |
T |
2: 79,927,742 (GRCm38) |
V50I |
probably benign |
Het |
| Pfkl |
A |
T |
10: 77,997,522 (GRCm38) |
|
probably null |
Het |
| Phkg1 |
A |
T |
5: 129,866,215 (GRCm38) |
Y207N |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,658,529 (GRCm38) |
T640A |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,311,993 (GRCm38) |
H411N |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,244,691 (GRCm38) |
S73P |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,335,663 (GRCm38) |
V662A |
probably damaging |
Het |
| Prss43 |
C |
T |
9: 110,829,426 (GRCm38) |
R265C |
possibly damaging |
Het |
| Rap1b |
A |
T |
10: 117,822,841 (GRCm38) |
V29D |
probably damaging |
Het |
| Rraga |
A |
G |
4: 86,576,811 (GRCm38) |
E298G |
probably damaging |
Het |
| Rrp8 |
A |
T |
7: 105,733,574 (GRCm38) |
I418N |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,355,606 (GRCm38) |
V420A |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,415,693 (GRCm38) |
N174I |
probably damaging |
Het |
| Speer4e |
T |
C |
5: 14,934,115 (GRCm38) |
N229S |
probably benign |
Het |
| Teddm3 |
A |
G |
16: 21,152,935 (GRCm38) |
*295Q |
probably null |
Het |
| Tfap2c |
A |
G |
2: 172,552,006 (GRCm38) |
D245G |
possibly damaging |
Het |
| Tfap2d |
A |
G |
1: 19,108,284 (GRCm38) |
N191S |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,612,268 (GRCm38) |
R1591G |
possibly damaging |
Het |
| Vmn1r116 |
T |
C |
7: 20,872,691 (GRCm38) |
W146R |
probably damaging |
Het |
| Vps13b |
C |
G |
15: 35,925,389 (GRCm38) |
S3823R |
probably damaging |
Het |
| Wiz |
T |
A |
17: 32,367,847 (GRCm38) |
D163V |
probably damaging |
Het |
| Xylt1 |
G |
C |
7: 117,381,359 (GRCm38) |
A61P |
unknown |
Het |
| Zfp521 |
A |
C |
18: 13,845,644 (GRCm38) |
F571V |
probably damaging |
Het |
| Zfp664 |
T |
A |
5: 124,886,069 (GRCm38) |
C176S |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,287,453 (GRCm38) |
N264D |
probably benign |
Het |
|
| Other mutations in Adam25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01444:Adam25
|
APN |
8 |
40,754,921 (GRCm38) |
missense |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGTGTAAGCAAATCTTCGGC -3'
(R):5'- CACACACCTTTCATGTTGCATG -3'
Sequencing Primer
(F):5'- GCCAGGAGTGCAGATCAC -3'
(R):5'- GCATGTCTTAGGTGAACACTGAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation