Incidental Mutation 'R6439:Adam25'
| ID |
518937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam25
|
| Ensembl Gene |
ENSMUSG00000071937 |
| Gene Name |
ADAM metallopeptidase domain 25 |
| Synonyms |
testase 2 |
| MMRRC Submission |
044577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41205245-41209213 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41207627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 298
(R298C)
|
| 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: R298C
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: R298C
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
T |
C |
15: 57,895,444 (GRCm39) |
D18G |
probably null |
Het |
| A530064D06Rik |
A |
G |
17: 48,473,653 (GRCm39) |
V88A |
probably damaging |
Het |
| Abhd6 |
T |
C |
14: 8,055,589 (GRCm38) |
L272P |
probably damaging |
Het |
| Adam34l |
T |
C |
8: 44,078,988 (GRCm39) |
N412S |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,916,818 (GRCm39) |
N219D |
possibly damaging |
Het |
| Brd3 |
A |
G |
2: 27,353,938 (GRCm39) |
F58S |
probably damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,892,253 (GRCm39) |
R332H |
possibly damaging |
Het |
| Cfap57 |
C |
A |
4: 118,446,172 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
G |
7: 73,130,154 (GRCm39) |
F834L |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,111,126 (GRCm39) |
K140E |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 60,020,731 (GRCm39) |
T534A |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,102,487 (GRCm39) |
V14I |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,359,257 (GRCm39) |
E291V |
probably damaging |
Het |
| Hbp1 |
A |
G |
12: 31,987,720 (GRCm39) |
L146S |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,799,276 (GRCm39) |
D616G |
possibly damaging |
Het |
| Igfbp5 |
A |
C |
1: 72,902,300 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,287,022 (GRCm39) |
|
probably null |
Het |
| Mpl |
T |
C |
4: 118,305,750 (GRCm39) |
D425G |
probably damaging |
Het |
| Ms4a4c |
T |
C |
19: 11,398,676 (GRCm39) |
S165P |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,392,911 (GRCm39) |
S3217P |
probably benign |
Het |
| Nfatc3 |
T |
A |
8: 106,810,502 (GRCm39) |
L426* |
probably null |
Het |
| Or4f47 |
T |
C |
2: 111,972,509 (GRCm39) |
V73A |
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,261,068 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,818 (GRCm39) |
Y260N |
probably damaging |
Het |
| Phf1 |
G |
T |
17: 27,155,586 (GRCm39) |
V384L |
probably benign |
Het |
| Rangap1 |
T |
C |
15: 81,596,336 (GRCm39) |
T259A |
probably benign |
Het |
| Rec8 |
A |
G |
14: 55,856,076 (GRCm39) |
N6S |
possibly damaging |
Het |
| Rmdn2 |
G |
A |
17: 79,934,971 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,118,945 (GRCm39) |
Y617C |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,400,221 (GRCm39) |
S744G |
probably benign |
Het |
| Ttc14 |
T |
C |
3: 33,862,968 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,214,032 (GRCm39) |
E219G |
possibly damaging |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,704 (GRCm39) |
D169G |
possibly damaging |
Het |
| Vmn1r72 |
A |
T |
7: 11,413,064 (GRCm39) |
|
probably null |
Het |
| Zfp326 |
T |
G |
5: 106,036,584 (GRCm39) |
M76R |
probably null |
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 |
|
|
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'- TGTTGAACGTGAGCGAATTCG -3'
(R):5'- CCAGATTATGACCCATCTCATGTG -3'
Sequencing Primer
(F):5'- GAACGTGAGCGAATTCGTTATC -3'
(R):5'- GACCCATCTCATGTGCTATAATACG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation