Incidental Mutation 'R2237:Adam18'
| ID |
240458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
040237-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2237 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25136303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 406
(E406G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000173833]
|
| AlphaFold |
Q9R157 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
AA Change: E406G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: E406G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
15 |
140 |
1.7e-25 |
PFAM |
|
Pfam:Reprolysin
|
180 |
377 |
1.1e-57 |
PFAM |
|
DISIN
|
396 |
474 |
1.03e-35 |
SMART |
|
ACR
|
475 |
613 |
1.12e-51 |
SMART |
|
transmembrane domain
|
684 |
703 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173833
AA Change: E406G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: E406G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
15 |
140 |
9.5e-35 |
PFAM |
|
Pfam:Reprolysin
|
180 |
378 |
7.7e-56 |
PFAM |
|
DISIN
|
396 |
474 |
1.03e-35 |
SMART |
|
ACR
|
475 |
613 |
1.12e-51 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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 early stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of related ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with that of controls. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox8 |
A |
C |
11: 69,076,597 (GRCm39) |
S572A |
probably benign |
Het |
| Aoah |
G |
A |
13: 20,978,481 (GRCm39) |
|
probably benign |
Het |
| Arhgap36 |
G |
T |
X: 48,582,282 (GRCm39) |
V60L |
possibly damaging |
Het |
| Arhgef37 |
T |
A |
18: 61,637,477 (GRCm39) |
Y395F |
probably damaging |
Het |
| Bard1 |
G |
A |
1: 71,114,135 (GRCm39) |
P282L |
probably damaging |
Het |
| Brd7 |
T |
A |
8: 89,073,541 (GRCm39) |
E283V |
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,553,302 (GRCm39) |
I387V |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,360,394 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,629,704 (GRCm39) |
Q1205R |
possibly damaging |
Het |
| Camsap2 |
A |
T |
1: 136,273,069 (GRCm39) |
L36Q |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,834,219 (GRCm39) |
F261L |
probably benign |
Het |
| Cd200r4 |
T |
A |
16: 44,641,260 (GRCm39) |
M1K |
probably null |
Het |
| Cdca7l |
A |
G |
12: 117,837,761 (GRCm39) |
E237G |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,314,341 (GRCm39) |
T146A |
probably benign |
Het |
| Clhc1 |
T |
G |
11: 29,519,329 (GRCm39) |
S379A |
probably benign |
Het |
| Dbf4 |
T |
A |
5: 8,458,542 (GRCm39) |
I158L |
possibly damaging |
Het |
| Deup1 |
A |
C |
9: 15,486,597 (GRCm39) |
I455S |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,967,259 (GRCm39) |
|
probably null |
Het |
| Eomes |
A |
G |
9: 118,311,359 (GRCm39) |
D394G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,100,601 (GRCm39) |
N518S |
probably damaging |
Het |
| Espl1 |
G |
A |
15: 102,224,004 (GRCm39) |
R1185H |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,535,527 (GRCm39) |
S401P |
probably benign |
Het |
| Fbxw15 |
A |
G |
9: 109,384,303 (GRCm39) |
S403P |
probably damaging |
Het |
| Hsd17b1 |
G |
A |
11: 100,970,652 (GRCm39) |
V236M |
probably damaging |
Het |
| Htatsf1 |
G |
T |
X: 56,111,864 (GRCm39) |
D642Y |
unknown |
Het |
| Iqca1l |
A |
T |
5: 24,753,292 (GRCm39) |
N453K |
probably benign |
Het |
| Itpripl2 |
T |
C |
7: 118,089,294 (GRCm39) |
T422A |
probably benign |
Het |
| Izumo4 |
T |
C |
10: 80,538,664 (GRCm39) |
S39P |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,054,493 (GRCm39) |
M484L |
probably benign |
Het |
| Kctd8 |
T |
A |
5: 69,267,752 (GRCm39) |
I453F |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,584,020 (GRCm39) |
T152A |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,941,733 (GRCm39) |
V1809A |
possibly damaging |
Het |
| L3mbtl2 |
A |
T |
15: 81,568,531 (GRCm39) |
T512S |
probably benign |
Het |
| Ltbp1 |
C |
A |
17: 75,617,158 (GRCm39) |
D1032E |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,278,055 (GRCm39) |
F633S |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,415,826 (GRCm39) |
I2924S |
probably benign |
Het |
| Nfe2l2 |
G |
A |
2: 75,506,898 (GRCm39) |
P401S |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,675,070 (GRCm39) |
V930A |
probably benign |
Het |
| Nt5c1b |
C |
A |
12: 10,425,558 (GRCm39) |
T309K |
probably damaging |
Het |
| Nt5m |
A |
G |
11: 59,743,696 (GRCm39) |
K108R |
probably benign |
Het |
| Or10v5 |
T |
C |
19: 11,805,814 (GRCm39) |
D192G |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,192 (GRCm39) |
D196G |
probably damaging |
Het |
| Osbpl9 |
T |
A |
4: 109,013,854 (GRCm39) |
Q80L |
probably damaging |
Het |
| Osm |
A |
G |
11: 4,188,505 (GRCm39) |
N44S |
possibly damaging |
Het |
| Pclo |
C |
T |
5: 14,763,952 (GRCm39) |
P4142S |
unknown |
Het |
| Pdlim2 |
T |
G |
14: 70,408,698 (GRCm39) |
T173P |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,668,915 (GRCm39) |
|
probably null |
Het |
| Phka2 |
A |
G |
X: 159,324,408 (GRCm39) |
E254G |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,923,081 (GRCm39) |
Y984H |
probably damaging |
Het |
| Plscr2 |
T |
C |
9: 92,172,877 (GRCm39) |
C179R |
probably damaging |
Het |
| Rbpms2 |
C |
A |
9: 65,558,893 (GRCm39) |
Y183* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,677,146 (GRCm39) |
E3235V |
probably benign |
Het |
| Sesn3 |
T |
C |
9: 14,219,761 (GRCm39) |
V50A |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,004,409 (GRCm39) |
V246A |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,241 (GRCm39) |
M313K |
possibly damaging |
Het |
| Spata4 |
A |
C |
8: 55,055,664 (GRCm39) |
K185T |
probably benign |
Het |
| Spin2c |
A |
G |
X: 152,616,672 (GRCm39) |
I162V |
probably damaging |
Het |
| Stac |
G |
A |
9: 111,519,190 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
T |
4: 155,946,675 (GRCm39) |
M310K |
possibly damaging |
Het |
| Tenm3 |
G |
A |
8: 48,795,372 (GRCm39) |
P585L |
probably damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,537,421 (GRCm39) |
S81T |
possibly damaging |
Het |
| Topaz1 |
C |
T |
9: 122,600,212 (GRCm39) |
T984I |
probably benign |
Het |
| Ttll2 |
G |
A |
17: 7,619,522 (GRCm39) |
T135I |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,170,101 (GRCm39) |
S1584G |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r80 |
G |
A |
10: 79,004,104 (GRCm39) |
E106K |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,475,090 (GRCm39) |
H643R |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,456,099 (GRCm39) |
Q1354* |
probably null |
Het |
| Zpld2 |
A |
C |
4: 133,929,516 (GRCm39) |
M263R |
unknown |
Het |
|
| Other mutations in Adam18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Adam18
|
APN |
8 |
25,118,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01649:Adam18
|
APN |
8 |
25,104,912 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02212:Adam18
|
APN |
8 |
25,127,195 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02455:Adam18
|
APN |
8 |
25,141,864 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02525:Adam18
|
APN |
8 |
25,131,783 (GRCm39) |
splice site |
probably benign |
|
|
IGL02525:Adam18
|
APN |
8 |
25,101,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02966:Adam18
|
APN |
8 |
25,101,165 (GRCm39) |
splice site |
probably benign |
|
|
IGL03136:Adam18
|
APN |
8 |
25,131,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G5030:Adam18
|
UTSW |
8 |
25,141,872 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0135:Adam18
|
UTSW |
8 |
25,155,558 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0280:Adam18
|
UTSW |
8 |
25,164,070 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0389:Adam18
|
UTSW |
8 |
25,119,653 (GRCm39) |
splice site |
probably null |
|
|
R0390:Adam18
|
UTSW |
8 |
25,164,070 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0443:Adam18
|
UTSW |
8 |
25,119,653 (GRCm39) |
splice site |
probably null |
|
|
R0479:Adam18
|
UTSW |
8 |
25,141,838 (GRCm39) |
missense |
probably benign |
|
|
R0578:Adam18
|
UTSW |
8 |
25,131,863 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0645:Adam18
|
UTSW |
8 |
25,162,136 (GRCm39) |
nonsense |
probably null |
|
|
R0881:Adam18
|
UTSW |
8 |
25,162,159 (GRCm39) |
splice site |
probably benign |
|
|
R0885:Adam18
|
UTSW |
8 |
25,141,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Adam18
|
UTSW |
8 |
25,137,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0973:Adam18
|
UTSW |
8 |
25,137,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0974:Adam18
|
UTSW |
8 |
25,137,869 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1005:Adam18
|
UTSW |
8 |
25,155,530 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1356:Adam18
|
UTSW |
8 |
25,158,611 (GRCm39) |
splice site |
probably benign |
|
|
R1510:Adam18
|
UTSW |
8 |
25,115,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1552:Adam18
|
UTSW |
8 |
25,136,377 (GRCm39) |
missense |
probably benign |
|
|
R1568:Adam18
|
UTSW |
8 |
25,137,799 (GRCm39) |
splice site |
probably null |
|
|
R1639:Adam18
|
UTSW |
8 |
25,142,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1968:Adam18
|
UTSW |
8 |
25,136,463 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2029:Adam18
|
UTSW |
8 |
25,140,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Adam18
|
UTSW |
8 |
25,162,082 (GRCm39) |
splice site |
probably benign |
|
|
R2211:Adam18
|
UTSW |
8 |
25,118,171 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2238:Adam18
|
UTSW |
8 |
25,136,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2239:Adam18
|
UTSW |
8 |
25,136,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2518:Adam18
|
UTSW |
8 |
25,127,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Adam18
|
UTSW |
8 |
25,118,248 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3426:Adam18
|
UTSW |
8 |
25,157,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3428:Adam18
|
UTSW |
8 |
25,157,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3967:Adam18
|
UTSW |
8 |
25,119,726 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4833:Adam18
|
UTSW |
8 |
25,164,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4965:Adam18
|
UTSW |
8 |
25,131,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Adam18
|
UTSW |
8 |
25,115,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5534:Adam18
|
UTSW |
8 |
25,155,530 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5920:Adam18
|
UTSW |
8 |
25,164,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Adam18
|
UTSW |
8 |
25,104,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Adam18
|
UTSW |
8 |
25,119,691 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6479:Adam18
|
UTSW |
8 |
25,119,681 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6516:Adam18
|
UTSW |
8 |
25,164,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Adam18
|
UTSW |
8 |
25,155,518 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7194:Adam18
|
UTSW |
8 |
25,141,868 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7226:Adam18
|
UTSW |
8 |
25,137,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Adam18
|
UTSW |
8 |
25,157,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7397:Adam18
|
UTSW |
8 |
25,136,321 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7575:Adam18
|
UTSW |
8 |
25,115,873 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7786:Adam18
|
UTSW |
8 |
25,101,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7872:Adam18
|
UTSW |
8 |
25,101,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8069:Adam18
|
UTSW |
8 |
25,118,246 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8411:Adam18
|
UTSW |
8 |
25,142,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Adam18
|
UTSW |
8 |
25,142,189 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8785:Adam18
|
UTSW |
8 |
25,140,911 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8803:Adam18
|
UTSW |
8 |
25,137,878 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8882:Adam18
|
UTSW |
8 |
25,136,438 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8944:Adam18
|
UTSW |
8 |
25,164,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Adam18
|
UTSW |
8 |
25,127,162 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9184:Adam18
|
UTSW |
8 |
25,137,847 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9258:Adam18
|
UTSW |
8 |
25,158,574 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9306:Adam18
|
UTSW |
8 |
25,136,420 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9377:Adam18
|
UTSW |
8 |
25,104,859 (GRCm39) |
nonsense |
probably null |
|
|
R9472:Adam18
|
UTSW |
8 |
25,127,248 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9476:Adam18
|
UTSW |
8 |
25,115,807 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9508:Adam18
|
UTSW |
8 |
25,143,778 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9567:Adam18
|
UTSW |
8 |
25,118,210 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9603:Adam18
|
UTSW |
8 |
25,118,147 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTAGGCTACACAGAACCCTG -3'
(R):5'- CAGTGGGAAGAAGACTTTTAGCAAC -3'
Sequencing Primer
(F):5'- TTAGGCTACACAGAACCCTGACTTAC -3'
(R):5'- GCAACTGTAGCTTGCATGAC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation