Incidental Mutation 'R7964:Adam25'
| ID |
650269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam25
|
| Ensembl Gene |
ENSMUSG00000071937 |
| Gene Name |
ADAM metallopeptidase domain 25 |
| Synonyms |
testase 2 |
| MMRRC Submission |
046007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R7964 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41205245-41209213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41208576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 614
(I614N)
|
| 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: I614N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: I614N
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,266,146 (GRCm39) |
M3042L |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,621,410 (GRCm39) |
L1345Q |
probably benign |
Het |
| Adam20 |
G |
T |
8: 41,249,944 (GRCm39) |
V685F |
probably damaging |
Het |
| Aldh1a7 |
C |
T |
19: 20,677,371 (GRCm39) |
V417M |
probably damaging |
Het |
| Aldh1a7 |
C |
T |
19: 20,693,406 (GRCm39) |
G171D |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,362 (GRCm39) |
F45S |
probably damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,500,160 (GRCm39) |
I1104V |
probably benign |
Het |
| Ap3d1 |
C |
A |
10: 80,565,891 (GRCm39) |
R92L |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,408,424 (GRCm39) |
Q2437R |
probably damaging |
Het |
| Bcl11a |
T |
C |
11: 24,113,353 (GRCm39) |
I232T |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,899,963 (GRCm39) |
R2102L |
unknown |
Het |
| Cemip2 |
T |
C |
19: 21,775,794 (GRCm39) |
|
probably null |
Het |
| Cfap97 |
A |
G |
8: 46,623,237 (GRCm39) |
D209G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,417,303 (GRCm39) |
M2754V |
|
Het |
| Dcdc2c |
A |
G |
12: 28,520,318 (GRCm39) |
I586T |
|
Het |
| Dkk4 |
T |
C |
8: 23,115,368 (GRCm39) |
C73R |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,774,531 (GRCm39) |
N439D |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,268 (GRCm39) |
D467G |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,608 (GRCm39) |
F67L |
probably benign |
Het |
| Elmod1 |
A |
G |
9: 53,838,860 (GRCm39) |
I100T |
probably benign |
Het |
| Gm9837 |
A |
G |
11: 53,361,001 (GRCm39) |
L71P |
unknown |
Het |
| Hpse |
A |
G |
5: 100,846,777 (GRCm39) |
|
probably null |
Het |
| Insc |
T |
C |
7: 114,445,708 (GRCm39) |
L472P |
probably damaging |
Het |
| Itgax |
A |
C |
7: 127,739,590 (GRCm39) |
|
probably null |
Het |
| Lair1 |
A |
G |
7: 4,013,803 (GRCm39) |
V148A |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,099,977 (GRCm39) |
|
probably null |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,288,079 (GRCm39) |
D855G |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,410,913 (GRCm39) |
R1425L |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 40,488,523 (GRCm39) |
S4521P |
|
Het |
| Nbas |
A |
G |
12: 13,406,896 (GRCm39) |
Y831C |
probably damaging |
Het |
| Nek9 |
C |
A |
12: 85,385,787 (GRCm39) |
R70L |
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,331,527 (GRCm39) |
L290V |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,038,607 (GRCm39) |
I480N |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,158 (GRCm39) |
N5D |
possibly damaging |
Het |
| Pcdhb13 |
C |
A |
18: 37,577,871 (GRCm39) |
Q750K |
possibly damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,827,786 (GRCm39) |
T727I |
|
Het |
| Pik3r6 |
C |
A |
11: 68,424,565 (GRCm39) |
P390Q |
probably benign |
Het |
| Pramel1 |
T |
C |
4: 143,123,810 (GRCm39) |
S162P |
probably benign |
Het |
| Psg21 |
A |
G |
7: 18,381,136 (GRCm39) |
M469T |
probably benign |
Het |
| Psg27 |
A |
T |
7: 18,299,124 (GRCm39) |
W66R |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,904,185 (GRCm39) |
C371R |
probably damaging |
Het |
| Shroom1 |
G |
T |
11: 53,355,149 (GRCm39) |
K329N |
possibly damaging |
Het |
| Slc35a3 |
A |
G |
3: 116,480,984 (GRCm39) |
I93T |
possibly damaging |
Het |
| Slc38a2 |
G |
A |
15: 96,590,453 (GRCm39) |
T297M |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,902,697 (GRCm39) |
D1620V |
probably damaging |
Het |
| Srsf4 |
T |
A |
4: 131,618,544 (GRCm39) |
L45Q |
probably benign |
Het |
| Tcaf2 |
G |
A |
6: 42,606,640 (GRCm39) |
S438L |
probably benign |
Het |
| Trappc11 |
T |
A |
8: 47,979,979 (GRCm39) |
I186L |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,316,914 (GRCm39) |
N1878K |
probably benign |
Het |
| Zfp280d |
T |
A |
9: 72,229,740 (GRCm39) |
M349K |
probably damaging |
Het |
| Zgpat |
A |
G |
2: 181,020,274 (GRCm39) |
H227R |
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 |
|
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'- ACTGTGGTGTGATCAGAGATGC -3'
(R):5'- GAGGGCCACTGTCAATACTC -3'
Sequencing Primer
(F):5'- GCATACTTAAGATGTCATGACCCAG -3'
(R):5'- CCACTTTTCAGGCAATGTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation