Incidental Mutation 'R1510:Adam18'
ID |
167852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam18
|
Ensembl Gene |
ENSMUSG00000031552 |
Gene Name |
a disintegrin and metallopeptidase domain 18 |
Synonyms |
Dtgn3, Adam27 |
MMRRC Submission |
039557-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1510 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25115847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 616
(T616S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000138232]
[ENSMUST00000173833]
|
AlphaFold |
Q9R157 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
AA Change: T616S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000033957 Gene: ENSMUSG00000031552 AA Change: T616S
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: ENSMUST00000138232
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173833
AA Change: T616S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000133378 Gene: ENSMUSG00000031552 AA Change: T616S
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: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
100% (79/79) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
G |
15: 91,073,181 (GRCm39) |
L326S |
probably damaging |
Het |
Adam22 |
T |
C |
5: 8,202,408 (GRCm39) |
K215E |
probably benign |
Het |
Ahi1 |
T |
G |
10: 20,835,699 (GRCm39) |
S11A |
probably benign |
Het |
Asb18 |
T |
C |
1: 89,923,976 (GRCm39) |
M96V |
possibly damaging |
Het |
Baz2b |
T |
C |
2: 59,752,553 (GRCm39) |
D1149G |
probably damaging |
Het |
C1qtnf3 |
A |
G |
15: 10,975,722 (GRCm39) |
E176G |
probably benign |
Het |
Cd151 |
T |
A |
7: 141,050,280 (GRCm39) |
S172T |
probably benign |
Het |
Cdh2 |
G |
T |
18: 16,781,651 (GRCm39) |
L90I |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,924,341 (GRCm39) |
V55A |
possibly damaging |
Het |
Cfap90 |
T |
A |
13: 68,745,596 (GRCm39) |
M1K |
probably null |
Het |
Chst8 |
T |
A |
7: 34,374,693 (GRCm39) |
H382L |
probably benign |
Het |
Cyb5r4 |
T |
C |
9: 86,948,696 (GRCm39) |
|
probably benign |
Het |
Cyp2j13 |
T |
C |
4: 95,950,209 (GRCm39) |
D264G |
possibly damaging |
Het |
Daam1 |
A |
G |
12: 72,024,500 (GRCm39) |
M814V |
probably damaging |
Het |
Ddx19b |
A |
G |
8: 111,742,285 (GRCm39) |
I150T |
probably damaging |
Het |
Dync1li1 |
T |
G |
9: 114,518,278 (GRCm39) |
S50A |
possibly damaging |
Het |
Fat3 |
A |
T |
9: 15,871,351 (GRCm39) |
L3680Q |
probably damaging |
Het |
Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
Gm21286 |
T |
G |
4: 60,794,931 (GRCm39) |
|
noncoding transcript |
Het |
Il6 |
T |
C |
5: 30,223,060 (GRCm39) |
Y126H |
probably damaging |
Het |
Inhba |
G |
T |
13: 16,201,607 (GRCm39) |
V390L |
probably damaging |
Het |
Ino80 |
C |
T |
2: 119,280,530 (GRCm39) |
R278H |
probably damaging |
Het |
Jade3 |
T |
G |
X: 20,384,057 (GRCm39) |
N799K |
probably benign |
Het |
Kcnn1 |
G |
A |
8: 71,316,714 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,765,848 (GRCm39) |
T585A |
probably damaging |
Het |
Kmt2d |
T |
A |
15: 98,754,258 (GRCm39) |
|
probably benign |
Het |
Krt17 |
C |
T |
11: 100,148,365 (GRCm39) |
E359K |
possibly damaging |
Het |
Lce1b |
T |
G |
3: 92,563,283 (GRCm39) |
R83S |
unknown |
Het |
Lck |
T |
C |
4: 129,449,461 (GRCm39) |
S290G |
possibly damaging |
Het |
Ltbp3 |
T |
C |
19: 5,798,915 (GRCm39) |
S544P |
probably benign |
Het |
Lypd6b |
T |
A |
2: 49,824,831 (GRCm39) |
S4R |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,328,555 (GRCm39) |
D4724G |
probably null |
Het |
Mcoln2 |
A |
G |
3: 145,882,365 (GRCm39) |
T255A |
probably benign |
Het |
Mcph1 |
T |
A |
8: 18,682,703 (GRCm39) |
|
probably null |
Het |
Mki67 |
C |
A |
7: 135,297,900 (GRCm39) |
R2378L |
probably benign |
Het |
Mxd1 |
A |
G |
6: 86,630,137 (GRCm39) |
V27A |
possibly damaging |
Het |
Myo5a |
T |
C |
9: 75,078,833 (GRCm39) |
Y864H |
probably benign |
Het |
Ndel1 |
A |
T |
11: 68,713,482 (GRCm39) |
N318K |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,066,167 (GRCm39) |
Q95R |
probably benign |
Het |
Or5ac16 |
A |
T |
16: 59,022,546 (GRCm39) |
M81K |
probably damaging |
Het |
Or5j3 |
T |
C |
2: 86,128,715 (GRCm39) |
L185P |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,735 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6b2b |
A |
T |
1: 92,419,339 (GRCm39) |
I46N |
probably damaging |
Het |
Parp10 |
T |
A |
15: 76,125,617 (GRCm39) |
Q487L |
probably damaging |
Het |
Pcdh10 |
C |
T |
3: 45,333,838 (GRCm39) |
R51C |
probably damaging |
Het |
Pdpr |
A |
T |
8: 111,851,107 (GRCm39) |
|
probably benign |
Het |
Pfpl |
A |
T |
19: 12,407,060 (GRCm39) |
D437V |
probably benign |
Het |
Pik3c2a |
G |
A |
7: 115,987,280 (GRCm39) |
T547I |
probably benign |
Het |
Pkdrej |
A |
C |
15: 85,700,963 (GRCm39) |
S1658A |
possibly damaging |
Het |
Pkn3 |
T |
C |
2: 29,969,776 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
A |
G |
17: 84,867,004 (GRCm39) |
|
probably null |
Het |
Plxdc1 |
A |
T |
11: 97,823,150 (GRCm39) |
C357S |
probably damaging |
Het |
Pnp |
A |
G |
14: 51,188,042 (GRCm39) |
T132A |
possibly damaging |
Het |
Prorp |
A |
T |
12: 55,350,997 (GRCm39) |
Q102L |
probably benign |
Het |
Rcan2 |
A |
G |
17: 44,147,315 (GRCm39) |
D51G |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,219,434 (GRCm39) |
N253S |
probably damaging |
Het |
Rreb1 |
T |
A |
13: 38,115,860 (GRCm39) |
I1073N |
probably benign |
Het |
Scaf4 |
G |
T |
16: 90,042,282 (GRCm39) |
D686E |
unknown |
Het |
Sfxn5 |
A |
C |
6: 85,213,907 (GRCm39) |
M221R |
probably damaging |
Het |
Slc38a1 |
A |
G |
15: 96,507,741 (GRCm39) |
F104L |
probably damaging |
Het |
Slc8a1 |
A |
T |
17: 81,955,547 (GRCm39) |
V497D |
probably damaging |
Het |
Spryd3 |
C |
A |
15: 102,027,396 (GRCm39) |
G290C |
probably damaging |
Het |
Stc2 |
A |
T |
11: 31,315,418 (GRCm39) |
Y140* |
probably null |
Het |
Stfa2 |
A |
T |
16: 36,228,673 (GRCm39) |
I8K |
possibly damaging |
Het |
Sult3a2 |
A |
T |
10: 33,658,026 (GRCm39) |
M29K |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Triobp |
G |
A |
15: 78,887,967 (GRCm39) |
R1908Q |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,802,828 (GRCm39) |
R7* |
probably null |
Het |
Ttn |
T |
C |
2: 76,782,501 (GRCm39) |
I912V |
probably benign |
Het |
Tusc2 |
T |
A |
9: 107,442,080 (GRCm39) |
V93E |
probably damaging |
Het |
Uhrf2 |
T |
A |
19: 30,016,461 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
G |
A |
17: 31,178,203 (GRCm39) |
V60M |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,380,501 (GRCm39) |
D2270V |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,005,553 (GRCm39) |
T397A |
possibly damaging |
Het |
Wbp2 |
A |
G |
11: 115,977,708 (GRCm39) |
V15A |
probably benign |
Het |
Zfp182 |
T |
A |
X: 20,896,446 (GRCm39) |
R617W |
probably damaging |
Het |
Zfp82 |
C |
A |
7: 29,756,047 (GRCm39) |
R345L |
probably damaging |
Het |
Zfp85 |
T |
C |
13: 67,903,084 (GRCm39) |
|
probably benign |
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 |
|
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 |
R2237:Adam18
|
UTSW |
8 |
25,136,303 (GRCm39) |
missense |
probably benign |
0.01 |
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'- AGGAGAGCCACAGATCTTGCCAAC -3'
(R):5'- CGTGTGATCTCCATCAGCTCTGAAC -3'
Sequencing Primer
(F):5'- TAGCATCAGAGTAGCTCACTTGG -3'
(R):5'- GCTCTGAACAAACACTGCTATTG -3'
|
Posted On |
2014-04-13 |