Incidental Mutation 'R5628:Adam25'
| ID |
441931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam25
|
| Ensembl Gene |
ENSMUSG00000071937 |
| Gene Name |
ADAM metallopeptidase domain 25 |
| Synonyms |
testase 2 |
| MMRRC Submission |
043167-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R5628 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41205245-41209213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41208747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 671
(D671G)
|
| 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: D671G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: D671G
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b1 |
A |
G |
13: 94,613,556 (GRCm39) |
D685G |
unknown |
Het |
| Atp6v1h |
G |
A |
1: 5,206,112 (GRCm39) |
W358* |
probably null |
Het |
| Atr |
T |
A |
9: 95,756,279 (GRCm39) |
Y830* |
probably null |
Het |
| B3galnt2 |
A |
T |
13: 14,169,737 (GRCm39) |
|
probably null |
Het |
| Casz1 |
T |
C |
4: 149,030,553 (GRCm39) |
Y1191H |
probably damaging |
Het |
| Cdc40 |
T |
G |
10: 40,727,049 (GRCm39) |
E169D |
probably benign |
Het |
| Cep55 |
C |
T |
19: 38,058,396 (GRCm39) |
Q330* |
probably null |
Het |
| Clcn1 |
T |
C |
6: 42,275,823 (GRCm39) |
V315A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,226,218 (GRCm39) |
F2957L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dync1li2 |
T |
C |
8: 105,147,224 (GRCm39) |
N490S |
possibly damaging |
Het |
| Ephb3 |
T |
C |
16: 21,036,869 (GRCm39) |
Y111H |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,877,392 (GRCm39) |
Y3407C |
probably damaging |
Het |
| Fbxw8 |
A |
G |
5: 118,230,622 (GRCm39) |
V393A |
probably damaging |
Het |
| Fnip1 |
A |
T |
11: 54,394,459 (GRCm39) |
D965V |
probably benign |
Het |
| Gramd2a |
T |
C |
9: 59,615,006 (GRCm39) |
M3T |
probably benign |
Het |
| Kctd15 |
T |
C |
7: 34,339,720 (GRCm39) |
D283G |
probably damaging |
Het |
| Kif9 |
C |
T |
9: 110,343,621 (GRCm39) |
R547* |
probably null |
Het |
| Map4 |
A |
G |
9: 109,910,915 (GRCm39) |
T245A |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,579 (GRCm39) |
L385F |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,107,240 (GRCm39) |
C1252R |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,861,620 (GRCm39) |
I134N |
unknown |
Het |
| Or5m10b |
T |
A |
2: 85,699,149 (GRCm39) |
I71N |
probably damaging |
Het |
| Osgin2 |
T |
A |
4: 15,998,998 (GRCm39) |
N208I |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,461,063 (GRCm39) |
V29M |
probably damaging |
Het |
| Prdm15 |
T |
A |
16: 97,600,823 (GRCm39) |
M812L |
probably damaging |
Het |
| Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,698,963 (GRCm39) |
N1153K |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,724,409 (GRCm39) |
|
probably null |
Het |
| Rusc2 |
C |
T |
4: 43,425,348 (GRCm39) |
T1151M |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,921,389 (GRCm39) |
T30A |
possibly damaging |
Het |
| Sephs1 |
T |
C |
2: 4,894,018 (GRCm39) |
I73T |
probably benign |
Het |
| Sf3b1 |
C |
T |
1: 55,037,334 (GRCm39) |
A861T |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,607,964 (GRCm39) |
W316R |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,021,974 (GRCm39) |
D484V |
probably benign |
Het |
| Smg1 |
C |
T |
7: 117,753,924 (GRCm39) |
|
probably benign |
Het |
| Stard5 |
T |
C |
7: 83,282,355 (GRCm39) |
I56T |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,230,414 (GRCm39) |
V2653A |
unknown |
Het |
| Tmem217 |
A |
T |
17: 29,745,430 (GRCm39) |
I100N |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,748,470 (GRCm39) |
R1400Q |
probably benign |
Het |
| Vmn1r82 |
T |
G |
7: 12,039,205 (GRCm39) |
N41K |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,675,247 (GRCm39) |
D367G |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,621,663 (GRCm39) |
V244E |
probably benign |
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 |
|
IGL02233:Adam25
|
APN |
8 |
41,208,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGGTGTCACCTGTTGGG -3'
(R):5'- AGGTAGTTCTACGTAACTCCTCAAG -3'
Sequencing Primer
(F):5'- GACTGACTACCATTTTGGGATGAC -3'
(R):5'- GCCCAATACTTTTCTTGTGT -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation