Incidental Mutation 'R7041:Adam25'
ID |
547060 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam25
|
Ensembl Gene |
ENSMUSG00000071937 |
Gene Name |
ADAM metallopeptidase domain 25 |
Synonyms |
testase 2 |
MMRRC Submission |
045140-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R7041 (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 T
at 41207121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 129
(H129L)
|
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: H129L
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000094420 Gene: ENSMUSG00000071937 AA Change: H129L
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 |
96% (53/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
G |
T |
7: 78,748,096 (GRCm39) |
E956* |
probably null |
Het |
Adgrl4 |
A |
T |
3: 151,144,959 (GRCm39) |
H36L |
probably benign |
Het |
Ago1 |
T |
A |
4: 126,357,499 (GRCm39) |
I59F |
possibly damaging |
Het |
Anapc1 |
A |
T |
2: 128,470,576 (GRCm39) |
V1518E |
possibly damaging |
Het |
Atxn1 |
A |
G |
13: 45,720,311 (GRCm39) |
I528T |
probably damaging |
Het |
B4galnt4 |
A |
G |
7: 140,650,593 (GRCm39) |
H820R |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,612,977 (GRCm39) |
E282G |
probably damaging |
Het |
Camk1 |
T |
A |
6: 113,316,475 (GRCm39) |
M95L |
probably benign |
Het |
Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
Cav1 |
A |
G |
6: 17,339,143 (GRCm39) |
E45G |
possibly damaging |
Het |
Ccdc183 |
T |
G |
2: 25,503,682 (GRCm39) |
E185A |
probably benign |
Het |
Ccl2 |
T |
A |
11: 81,926,489 (GRCm39) |
M1K |
probably null |
Het |
Cep97 |
T |
A |
16: 55,726,117 (GRCm39) |
H590L |
probably benign |
Het |
Dsg1c |
A |
T |
18: 20,399,201 (GRCm39) |
I102F |
probably damaging |
Het |
Fcho2 |
A |
G |
13: 98,921,334 (GRCm39) |
Y184H |
possibly damaging |
Het |
Gart |
C |
T |
16: 91,440,031 (GRCm39) |
|
probably benign |
Het |
Gask1a |
A |
T |
9: 121,794,467 (GRCm39) |
Q207L |
probably damaging |
Het |
Golga3 |
G |
A |
5: 110,356,450 (GRCm39) |
|
probably null |
Het |
Hint3 |
G |
T |
10: 30,486,380 (GRCm39) |
A133E |
probably damaging |
Het |
Hspe1 |
T |
C |
1: 55,128,376 (GRCm39) |
|
probably null |
Het |
Insr |
A |
T |
8: 3,308,418 (GRCm39) |
V206E |
probably benign |
Het |
Insrr |
T |
C |
3: 87,722,551 (GRCm39) |
S1258P |
probably damaging |
Het |
Itga11 |
C |
T |
9: 62,659,538 (GRCm39) |
T430M |
probably damaging |
Het |
Jmjd1c |
G |
A |
10: 67,056,388 (GRCm39) |
V890I |
possibly damaging |
Het |
Kdm4b |
T |
A |
17: 56,703,592 (GRCm39) |
S717R |
probably damaging |
Het |
Large1 |
A |
T |
8: 73,843,092 (GRCm39) |
C144S |
probably damaging |
Het |
Lrat |
G |
T |
3: 82,810,755 (GRCm39) |
Q89K |
probably benign |
Het |
Lrrc66 |
A |
T |
5: 73,765,899 (GRCm39) |
F381L |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,396,832 (GRCm39) |
T2634A |
probably damaging |
Het |
Nup205 |
T |
G |
6: 35,201,470 (GRCm39) |
I1182M |
possibly damaging |
Het |
Or2a51 |
T |
A |
6: 43,178,837 (GRCm39) |
D86E |
probably benign |
Het |
Or5m10 |
A |
T |
2: 85,717,965 (GRCm39) |
I274F |
probably benign |
Het |
Or6c66 |
T |
A |
10: 129,461,603 (GRCm39) |
E109V |
probably damaging |
Het |
Plekha6 |
T |
A |
1: 133,200,198 (GRCm39) |
V259D |
possibly damaging |
Het |
Prdm9 |
C |
A |
17: 15,765,257 (GRCm39) |
A508S |
possibly damaging |
Het |
Prickle2 |
A |
G |
6: 92,353,286 (GRCm39) |
F783L |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,054,047 (GRCm39) |
S31G |
probably benign |
Het |
Rbak |
A |
T |
5: 143,159,226 (GRCm39) |
I609N |
probably damaging |
Het |
Rimklb |
A |
T |
6: 122,436,176 (GRCm39) |
L134* |
probably null |
Het |
Ripor2 |
A |
G |
13: 24,877,749 (GRCm39) |
I250V |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spaca6 |
C |
T |
17: 18,056,358 (GRCm39) |
L118F |
probably benign |
Het |
Tmem167 |
G |
A |
13: 90,246,533 (GRCm39) |
C19Y |
probably benign |
Het |
Togaram1 |
C |
T |
12: 65,067,160 (GRCm39) |
T1684I |
possibly damaging |
Het |
Trappc8 |
T |
C |
18: 21,007,729 (GRCm39) |
T129A |
probably benign |
Het |
Ubash3a |
A |
G |
17: 31,447,184 (GRCm39) |
S347G |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,542,752 (GRCm39) |
S289P |
probably benign |
Het |
Vmn2r11 |
A |
G |
5: 109,202,816 (GRCm39) |
I87T |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,363,751 (GRCm39) |
F381I |
probably damaging |
Het |
Wdsub1 |
A |
G |
2: 59,683,224 (GRCm39) |
L450P |
probably damaging |
Het |
Xylt2 |
A |
G |
11: 94,558,408 (GRCm39) |
|
probably null |
Het |
Zfp429 |
A |
T |
13: 67,538,830 (GRCm39) |
C205S |
probably damaging |
Het |
Zfp60 |
T |
C |
7: 27,448,451 (GRCm39) |
I373T |
probably benign |
Het |
Zfp738 |
A |
G |
13: 67,818,420 (GRCm39) |
S524P |
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 |
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 |
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'- CAGAAGTAGTGATACCCTTACGG -3'
(R):5'- TCAGTGCACATCTCATGGGG -3'
Sequencing Primer
(F):5'- TTACGGGTCACAGGCAAC -3'
(R):5'- GCACATCTCATGGGGAGTAATTC -3'
|
Posted On |
2019-05-13 |