Incidental Mutation 'R5791:Adam25'
| ID |
446976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam25
|
| Ensembl Gene |
ENSMUSG00000071937 |
| Gene Name |
a disintegrin and metallopeptidase domain 25 (testase 2) |
| Synonyms |
testase 2 |
| MMRRC Submission |
043207-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R5791 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
40752208-40756176 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 40754220 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 174
(Q174H)
|
| 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: Q174H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094420
Gene: ENSMUSG00000071937
AA Change: Q174H
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor2 |
A |
T |
6: 119,361,905 (GRCm38) |
M129K |
possibly damaging |
Het |
| AI314180 |
C |
T |
4: 58,814,027 (GRCm38) |
E1360K |
possibly damaging |
Het |
| AI314180 |
T |
A |
4: 58,822,111 (GRCm38) |
D1152V |
probably damaging |
Het |
| Arhgap29 |
T |
A |
3: 122,014,245 (GRCm38) |
M616K |
probably damaging |
Het |
| Calcrl |
A |
T |
2: 84,351,265 (GRCm38) |
F180I |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,895,767 (GRCm38) |
V864A |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,961,072 (GRCm38) |
F504S |
probably benign |
Het |
| Coasy |
A |
G |
11: 101,084,385 (GRCm38) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,931,473 (GRCm38) |
N751S |
probably benign |
Het |
| Eea1 |
T |
A |
10: 96,019,995 (GRCm38) |
N631K |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,351,326 (GRCm38) |
K27R |
probably damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,745,153 (GRCm38) |
W42R |
probably damaging |
Het |
| Gas6 |
A |
G |
8: 13,470,217 (GRCm38) |
|
probably null |
Het |
| Gfral |
C |
T |
9: 76,197,046 (GRCm38) |
R228Q |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,772,555 (GRCm38) |
R100C |
unknown |
Het |
| Gmppa |
T |
C |
1: 75,442,255 (GRCm38) |
V324A |
possibly damaging |
Het |
| Gstm2 |
C |
T |
3: 107,984,128 (GRCm38) |
|
probably null |
Het |
| Kcng3 |
A |
G |
17: 83,588,210 (GRCm38) |
S276P |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,851,254 (GRCm38) |
S520P |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,937,767 (GRCm38) |
N190S |
probably benign |
Het |
| Lrwd1 |
G |
C |
5: 136,131,033 (GRCm38) |
A392G |
probably benign |
Het |
| Mab21l2 |
A |
G |
3: 86,546,737 (GRCm38) |
Y319H |
probably damaging |
Het |
| Ndufv3 |
A |
G |
17: 31,527,408 (GRCm38) |
N91D |
probably benign |
Het |
| Nfatc2 |
T |
A |
2: 168,536,393 (GRCm38) |
M451L |
probably benign |
Het |
| Olfr980 |
A |
T |
9: 40,006,734 (GRCm38) |
S72T |
probably damaging |
Het |
| Pcdhgb2 |
G |
T |
18: 37,692,340 (GRCm38) |
V795F |
possibly damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,110,991 (GRCm38) |
M843K |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,339,692 (GRCm38) |
N221K |
probably benign |
Het |
| Ppox |
T |
C |
1: 171,277,312 (GRCm38) |
Y422C |
probably damaging |
Het |
| Retreg3 |
A |
G |
11: 101,100,943 (GRCm38) |
S55P |
probably damaging |
Het |
| Rnf103 |
C |
A |
6: 71,508,925 (GRCm38) |
T180K |
probably damaging |
Het |
| Tbl3 |
A |
T |
17: 24,704,434 (GRCm38) |
L307H |
probably damaging |
Het |
| Tex26 |
A |
T |
5: 149,439,775 (GRCm38) |
|
probably null |
Het |
| Tln2 |
A |
T |
9: 67,386,605 (GRCm38) |
I247K |
probably damaging |
Het |
| Txlnb |
T |
C |
10: 17,799,128 (GRCm38) |
S10P |
probably benign |
Het |
| Vwde |
C |
A |
6: 13,195,986 (GRCm38) |
E347* |
probably null |
Het |
| Wasf1 |
G |
A |
10: 40,926,574 (GRCm38) |
R75Q |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 30,038,262 (GRCm38) |
S433P |
probably damaging |
Het |
| Zfp647 |
G |
T |
15: 76,918,006 (GRCm38) |
A2E |
unknown |
Het |
|
| Other mutations in Adam25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01444:Adam25
|
APN |
8 |
40,754,921 (GRCm38) |
missense |
probably benign |
|
|
IGL01977:Adam25
|
APN |
8 |
40,755,097 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02098:Adam25
|
APN |
8 |
40,755,643 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02233:Adam25
|
APN |
8 |
40,755,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02458:Adam25
|
APN |
8 |
40,753,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02527:Adam25
|
APN |
8 |
40,753,748 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL02632:Adam25
|
APN |
8 |
40,755,200 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02995:Adam25
|
APN |
8 |
40,753,723 (GRCm38) |
missense |
probably benign |
0.00 |
|
H8786:Adam25
|
UTSW |
8 |
40,754,224 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0062:Adam25
|
UTSW |
8 |
40,754,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0062:Adam25
|
UTSW |
8 |
40,754,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0189:Adam25
|
UTSW |
8 |
40,755,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0505:Adam25
|
UTSW |
8 |
40,755,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0532:Adam25
|
UTSW |
8 |
40,755,950 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0699:Adam25
|
UTSW |
8 |
40,755,974 (GRCm38) |
missense |
probably benign |
|
|
R0972:Adam25
|
UTSW |
8 |
40,755,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1053:Adam25
|
UTSW |
8 |
40,754,731 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1079:Adam25
|
UTSW |
8 |
40,755,476 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1872:Adam25
|
UTSW |
8 |
40,755,226 (GRCm38) |
nonsense |
probably null |
|
|
R1933:Adam25
|
UTSW |
8 |
40,754,885 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1934:Adam25
|
UTSW |
8 |
40,754,885 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4061:Adam25
|
UTSW |
8 |
40,753,782 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R4702:Adam25
|
UTSW |
8 |
40,754,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4703:Adam25
|
UTSW |
8 |
40,754,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4705:Adam25
|
UTSW |
8 |
40,754,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4859:Adam25
|
UTSW |
8 |
40,754,543 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5015:Adam25
|
UTSW |
8 |
40,754,634 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5249:Adam25
|
UTSW |
8 |
40,755,954 (GRCm38) |
missense |
probably benign |
|
|
R5628:Adam25
|
UTSW |
8 |
40,755,710 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6439:Adam25
|
UTSW |
8 |
40,754,590 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6693:Adam25
|
UTSW |
8 |
40,754,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7041:Adam25
|
UTSW |
8 |
40,754,084 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7101:Adam25
|
UTSW |
8 |
40,755,401 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7531:Adam25
|
UTSW |
8 |
40,753,877 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7600:Adam25
|
UTSW |
8 |
40,755,817 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7634:Adam25
|
UTSW |
8 |
40,754,846 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7964:Adam25
|
UTSW |
8 |
40,755,539 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8017:Adam25
|
UTSW |
8 |
40,754,087 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8021:Adam25
|
UTSW |
8 |
40,754,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8499:Adam25
|
UTSW |
8 |
40,755,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8686:Adam25
|
UTSW |
8 |
40,755,484 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8715:Adam25
|
UTSW |
8 |
40,754,062 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8847:Adam25
|
UTSW |
8 |
40,753,709 (GRCm38) |
missense |
probably benign |
|
|
R8921:Adam25
|
UTSW |
8 |
40,754,673 (GRCm38) |
nonsense |
probably null |
|
|
R9120:Adam25
|
UTSW |
8 |
40,756,104 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R9158:Adam25
|
UTSW |
8 |
40,755,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9339:Adam25
|
UTSW |
8 |
40,753,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9348:Adam25
|
UTSW |
8 |
40,755,916 (GRCm38) |
missense |
probably benign |
|
|
R9454:Adam25
|
UTSW |
8 |
40,754,449 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9492:Adam25
|
UTSW |
8 |
40,753,699 (GRCm38) |
start codon destroyed |
probably benign |
0.12 |
|
R9680:Adam25
|
UTSW |
8 |
40,755,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF006:Adam25
|
UTSW |
8 |
40,755,797 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2016-12-15 |
Incidental Mutation