Incidental Mutation 'R8499:Adam25'
| ID |
658421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam25
|
| Ensembl Gene |
ENSMUSG00000071937 |
| Gene Name |
ADAM metallopeptidase domain 25 |
| Synonyms |
testase 2 |
| MMRRC Submission |
067941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R8499 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41205245-41209213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41208189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 485
(D485G)
|
| 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: D485G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: D485G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (49/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4b1 |
G |
A |
3: 103,728,018 (GRCm39) |
R344Q |
probably damaging |
Het |
| Apol7c |
G |
T |
15: 77,410,280 (GRCm39) |
P222Q |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,869,796 (GRCm39) |
L272P |
probably damaging |
Het |
| Atp11b |
G |
T |
3: 35,864,854 (GRCm39) |
R559I |
probably benign |
Het |
| Bhmt |
T |
A |
13: 93,756,600 (GRCm39) |
I343F |
probably benign |
Het |
| Btbd7 |
A |
T |
12: 102,754,631 (GRCm39) |
F712I |
probably damaging |
Het |
| Card14 |
T |
C |
11: 119,222,070 (GRCm39) |
L455P |
probably benign |
Het |
| Cast |
A |
T |
13: 74,946,835 (GRCm39) |
H26Q |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,284,133 (GRCm39) |
N567S |
probably damaging |
Het |
| Cnot6l |
A |
T |
5: 96,225,176 (GRCm39) |
W506R |
probably damaging |
Het |
| Dynap |
T |
A |
18: 70,374,044 (GRCm39) |
I161L |
unknown |
Het |
| Eif4g3 |
A |
C |
4: 137,893,239 (GRCm39) |
T996P |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,623,849 (GRCm39) |
Y173H |
probably benign |
Het |
| Fbll1 |
C |
T |
11: 35,688,907 (GRCm39) |
V119M |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,214,068 (GRCm39) |
F249L |
probably benign |
Het |
| Fxyd1 |
C |
A |
7: 30,752,529 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
C |
A |
4: 135,276,549 (GRCm39) |
|
probably null |
Het |
| Grk4 |
A |
G |
5: 34,902,690 (GRCm39) |
E414G |
possibly damaging |
Het |
| H2bc8 |
T |
A |
13: 23,755,880 (GRCm39) |
S92T |
probably benign |
Het |
| H2-Q5 |
A |
G |
17: 35,613,820 (GRCm39) |
D123G |
|
Het |
| H2-Q5 |
C |
T |
17: 35,613,945 (GRCm39) |
R165* |
probably null |
Het |
| Hgf |
A |
T |
5: 16,771,854 (GRCm39) |
E160D |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,086 (GRCm39) |
I192V |
probably benign |
Het |
| Klk1b22 |
T |
C |
7: 43,762,144 (GRCm39) |
F7L |
probably benign |
Het |
| Lcmt1 |
C |
A |
7: 123,029,371 (GRCm39) |
T331N |
probably benign |
Het |
| Lrrc36 |
A |
T |
8: 106,176,168 (GRCm39) |
T181S |
possibly damaging |
Het |
| Ltbp3 |
T |
A |
19: 5,798,712 (GRCm39) |
S520T |
probably benign |
Het |
| Nacc1 |
A |
T |
8: 85,403,345 (GRCm39) |
C177S |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,342,728 (GRCm39) |
V888E |
probably damaging |
Het |
| Oc90 |
C |
T |
15: 65,753,405 (GRCm39) |
G305S |
probably damaging |
Het |
| Or51a25 |
A |
G |
7: 102,372,932 (GRCm39) |
V255A |
probably damaging |
Het |
| Or52i2 |
T |
A |
7: 102,320,012 (GRCm39) |
I295N |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,764,092 (GRCm39) |
D473V |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,799,623 (GRCm39) |
G117C |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,079,366 (GRCm39) |
H68R |
probably damaging |
Het |
| Pygm |
A |
G |
19: 6,440,392 (GRCm39) |
K479E |
probably damaging |
Het |
| Qpct |
A |
G |
17: 79,384,996 (GRCm39) |
D212G |
probably damaging |
Het |
| Sh3glb2 |
A |
T |
2: 30,249,216 (GRCm39) |
M1K |
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,758,469 (GRCm39) |
S444P |
probably damaging |
Het |
| Snai3 |
G |
A |
8: 123,183,144 (GRCm39) |
H134Y |
probably benign |
Het |
| Synpo |
T |
C |
18: 60,736,044 (GRCm39) |
D395G |
probably damaging |
Het |
| Tmem63c |
C |
T |
12: 87,119,738 (GRCm39) |
T344I |
probably damaging |
Het |
| Tnfsf14 |
A |
G |
17: 57,497,534 (GRCm39) |
Y233H |
|
Het |
| Ttn |
A |
G |
2: 76,749,335 (GRCm39) |
F3905L |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,454,363 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,750 (GRCm39) |
M3I |
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,700 (GRCm39) |
C707S |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,841,466 (GRCm39) |
S2499P |
probably damaging |
Het |
| Ythdf3 |
A |
G |
3: 16,259,179 (GRCm39) |
E442G |
possibly damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,204,907 (GRCm39) |
S74P |
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 |
|
|
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 |
|
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'- CTGCCAAGTGTATGCGCAAG -3'
(R):5'- CTCTGTAGCAACTGTGATCTGC -3'
Sequencing Primer
(F):5'- GTCAAAAGGCATCCTCCGAGG -3'
(R):5'- GTGATCTGCACTCCTGGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation