Incidental Mutation 'R8715:Adam25'
| ID |
669822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam25
|
| Ensembl Gene |
ENSMUSG00000071937 |
| Gene Name |
ADAM metallopeptidase domain 25 |
| Synonyms |
testase 2 |
| MMRRC Submission |
068613-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R8715 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41205245-41209213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41207099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 122
(N122D)
|
| 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: N122D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: N122D
| 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: 99.3%
|
| Validation Efficiency |
100% (50/50) |
| 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 |
|---|
| Abcb1b |
A |
T |
5: 8,862,750 (GRCm39) |
H144L |
probably benign |
Het |
| Armc10 |
T |
C |
5: 21,858,516 (GRCm39) |
F187S |
possibly damaging |
Het |
| Atosb |
A |
G |
4: 43,033,944 (GRCm39) |
V444A |
possibly damaging |
Het |
| Best3 |
T |
A |
10: 116,828,971 (GRCm39) |
F84I |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,871,315 (GRCm39) |
D729E |
probably benign |
Het |
| Ccdc60 |
A |
T |
5: 116,328,153 (GRCm39) |
F104I |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cd209d |
CAT |
C |
8: 3,923,772 (GRCm39) |
|
probably null |
Het |
| Cdhr4 |
G |
A |
9: 107,874,596 (GRCm39) |
V9M |
|
Het |
| Cfap46 |
T |
C |
7: 139,185,560 (GRCm39) |
T41A |
|
Het |
| Cyp2c66 |
A |
G |
19: 39,159,388 (GRCm39) |
T280A |
probably benign |
Het |
| Dis3l |
C |
T |
9: 64,214,342 (GRCm39) |
D1049N |
probably benign |
Het |
| Dlc1 |
T |
A |
8: 37,405,795 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,265,299 (GRCm39) |
T526A |
probably benign |
Het |
| Gimap6 |
A |
T |
6: 48,679,552 (GRCm39) |
D161E |
probably damaging |
Het |
| Gmpr |
T |
C |
13: 45,696,102 (GRCm39) |
V282A |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,431,245 (GRCm39) |
I190V |
possibly damaging |
Het |
| Gucy2d |
C |
T |
7: 98,093,319 (GRCm39) |
T232I |
probably benign |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,396,490 (GRCm39) |
S2358I |
possibly damaging |
Het |
| Lrrc74a |
A |
G |
12: 86,805,239 (GRCm39) |
N354D |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,915,526 (GRCm39) |
E112G |
probably damaging |
Het |
| Msh6 |
C |
T |
17: 88,293,195 (GRCm39) |
T650I |
probably benign |
Het |
| Mst1 |
T |
C |
9: 107,959,242 (GRCm39) |
V203A |
possibly damaging |
Het |
| Muc1 |
G |
A |
3: 89,138,821 (GRCm39) |
V477M |
possibly damaging |
Het |
| Naa11 |
A |
G |
5: 97,540,066 (GRCm39) |
Y31H |
probably damaging |
Het |
| Nphp1 |
G |
T |
2: 127,605,729 (GRCm39) |
H365Q |
possibly damaging |
Het |
| Or1p4-ps1 |
T |
A |
11: 74,207,986 (GRCm39) |
I45N |
probably damaging |
Het |
| Or2y17 |
A |
T |
11: 49,232,154 (GRCm39) |
Y265F |
probably damaging |
Het |
| Or5m13 |
G |
A |
2: 85,748,273 (GRCm39) |
M1I |
probably null |
Het |
| Osbpl9 |
A |
G |
4: 108,959,773 (GRCm39) |
F15S |
probably benign |
Het |
| Pcdha12 |
A |
C |
18: 37,153,523 (GRCm39) |
N81H |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 110,071,876 (GRCm39) |
Q290R |
probably benign |
Het |
| Pla1a |
A |
T |
16: 38,230,000 (GRCm39) |
N237K |
probably damaging |
Het |
| Podnl1 |
T |
C |
8: 84,855,956 (GRCm39) |
Y239H |
|
Het |
| Pou4f3 |
G |
T |
18: 42,528,593 (GRCm39) |
D179Y |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,968,719 (GRCm39) |
V995A |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 161,372,463 (GRCm39) |
C1403Y |
probably damaging |
Het |
| Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
| Rspry1 |
A |
G |
8: 95,349,888 (GRCm39) |
E92G |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,773,803 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,671,728 (GRCm39) |
T2140M |
probably damaging |
Het |
| Serpina1e |
T |
C |
12: 103,917,177 (GRCm39) |
N164S |
probably benign |
Het |
| Shisal1 |
A |
C |
15: 84,301,346 (GRCm39) |
V99G |
probably damaging |
Het |
| Tdrkh |
T |
C |
3: 94,331,968 (GRCm39) |
V131A |
probably damaging |
Het |
| Tm9sf3 |
T |
A |
19: 41,244,724 (GRCm39) |
N51I |
probably damaging |
Het |
| Trav4-3 |
A |
G |
14: 53,836,762 (GRCm39) |
N76D |
possibly damaging |
Het |
| Trhr2 |
T |
A |
8: 123,085,619 (GRCm39) |
I122F |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,613,922 (GRCm39) |
|
probably benign |
Het |
| Zfp663 |
T |
C |
2: 165,194,644 (GRCm39) |
E525G |
probably damaging |
Het |
| Zfp976 |
C |
T |
7: 42,262,869 (GRCm39) |
E324K |
possibly 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 |
|
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 |
|
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 |
|
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'- TCCCAGAAGTAGTGATACCCTTAC -3'
(R):5'- AGTGCACATCTCATGGGGAG -3'
Sequencing Primer
(F):5'- TTACGGGTCACAGGCAAC -3'
(R):5'- GCACATCTCATGGGGAGTAATTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation