Incidental Mutation 'R4061:Adam25'
ID |
315863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam25
|
Ensembl Gene |
ENSMUSG00000071937 |
Gene Name |
ADAM metallopeptidase domain 25 |
Synonyms |
testase 2 |
MMRRC Submission |
040852-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R4061 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
41205245-41209213 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41206819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 28
(I28M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096663]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096663
AA Change: I28M
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000094420 Gene: ENSMUSG00000071937 AA Change: I28M
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210673
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
94% (51/54) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
Anks1b |
A |
G |
10: 90,143,484 (GRCm39) |
S464G |
probably damaging |
Het |
AU040320 |
T |
A |
4: 126,729,488 (GRCm39) |
M550K |
probably damaging |
Het |
Cab39l |
A |
G |
14: 59,737,056 (GRCm39) |
K59E |
possibly damaging |
Het |
Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
Csmd1 |
A |
G |
8: 15,995,158 (GRCm39) |
S2626P |
probably benign |
Het |
Ctss |
C |
T |
3: 95,450,345 (GRCm39) |
R99W |
probably benign |
Het |
Deptor |
A |
T |
15: 55,072,177 (GRCm39) |
M219L |
probably benign |
Het |
Disp1 |
A |
G |
1: 182,869,264 (GRCm39) |
V1052A |
probably damaging |
Het |
Esyt3 |
C |
T |
9: 99,202,891 (GRCm39) |
S504N |
probably damaging |
Het |
Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
Folh1 |
T |
A |
7: 86,406,170 (GRCm39) |
Y301F |
possibly damaging |
Het |
Gm14443 |
G |
A |
2: 175,011,402 (GRCm39) |
T348I |
probably benign |
Het |
Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
Iars2 |
A |
T |
1: 185,035,583 (GRCm39) |
H552Q |
possibly damaging |
Het |
Il18r1 |
G |
A |
1: 40,514,096 (GRCm39) |
V101I |
probably benign |
Het |
Impdh2 |
A |
G |
9: 108,440,003 (GRCm39) |
R182G |
possibly damaging |
Het |
Krt12 |
A |
T |
11: 99,306,841 (GRCm39) |
M487K |
unknown |
Het |
Lmln |
C |
A |
16: 32,886,761 (GRCm39) |
Y89* |
probably null |
Het |
Lrrc38 |
T |
A |
4: 143,077,076 (GRCm39) |
L113Q |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,364,867 (GRCm39) |
D1947G |
possibly damaging |
Het |
Myh13 |
A |
T |
11: 67,221,715 (GRCm39) |
I177F |
possibly damaging |
Het |
Nfasc |
T |
C |
1: 132,525,583 (GRCm39) |
Y904C |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,899,358 (GRCm39) |
P1000S |
probably damaging |
Het |
Or52n4 |
T |
A |
7: 104,293,680 (GRCm39) |
K298* |
probably null |
Het |
Or5t7 |
T |
A |
2: 86,507,162 (GRCm39) |
I172F |
probably damaging |
Het |
Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,590,580 (GRCm39) |
E960G |
unknown |
Het |
Plagl1 |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
10: 13,004,515 (GRCm39) |
|
probably benign |
Het |
Prl7a1 |
T |
C |
13: 27,819,832 (GRCm39) |
I141V |
possibly damaging |
Het |
Ptpn18 |
A |
T |
1: 34,512,011 (GRCm39) |
H45L |
possibly damaging |
Het |
Sbno1 |
A |
T |
5: 124,526,635 (GRCm39) |
M960K |
probably damaging |
Het |
Slx4ip |
T |
A |
2: 136,846,937 (GRCm39) |
S67R |
probably benign |
Het |
Spata18 |
A |
G |
5: 73,828,509 (GRCm39) |
K243E |
probably damaging |
Het |
Tcp1 |
A |
G |
17: 13,139,750 (GRCm39) |
Q265R |
probably benign |
Het |
Tec |
C |
T |
5: 72,980,752 (GRCm39) |
|
probably benign |
Het |
Thbs4 |
A |
G |
13: 92,912,605 (GRCm39) |
|
probably null |
Het |
Tln1 |
T |
A |
4: 43,549,177 (GRCm39) |
Q635L |
probably damaging |
Het |
Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
Uap1 |
T |
C |
1: 169,986,415 (GRCm39) |
E189G |
possibly damaging |
Het |
Usp21 |
G |
A |
1: 171,112,974 (GRCm39) |
|
probably benign |
Het |
Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
Vmn1r38 |
A |
T |
6: 66,753,832 (GRCm39) |
C95S |
possibly damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
Vmn2r84 |
T |
A |
10: 130,221,898 (GRCm39) |
E774V |
probably damaging |
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 |
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 |
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'- TGCCTTTGAACAAACCTCAGC -3'
(R):5'- TGTGAATAAAATGTTTCTGGCCCC -3'
Sequencing Primer
(F):5'- TGGCCTGCCCATACTGAAATACTC -3'
(R):5'- AATGTTTCTGGCCCCCAAAATG -3'
|
Posted On |
2015-05-15 |