Incidental Mutation 'R5249:Adam18'
ID |
398810 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam18
|
Ensembl Gene |
ENSMUSG00000031552 |
Gene Name |
a disintegrin and metallopeptidase domain 18 |
Synonyms |
Dtgn3, Adam27 |
MMRRC Submission |
042820-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5249 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25115868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 609
(T609A)
|
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: T609A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000033957 Gene: ENSMUSG00000031552 AA Change: T609A
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: T609A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000133378 Gene: ENSMUSG00000031552 AA Change: T609A
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 |
0.0827 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (93/95) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
A |
G |
9: 99,502,284 (GRCm39) |
H148R |
probably damaging |
Het |
Acrbp |
A |
G |
6: 125,037,885 (GRCm39) |
D394G |
probably damaging |
Het |
Adam25 |
T |
A |
8: 41,208,991 (GRCm39) |
N752K |
probably benign |
Het |
Ano6 |
A |
C |
15: 95,811,469 (GRCm39) |
S176R |
probably benign |
Het |
Ano7 |
T |
C |
1: 93,302,918 (GRCm39) |
S19P |
probably benign |
Het |
Ap1b1 |
A |
G |
11: 4,976,364 (GRCm39) |
E437G |
probably damaging |
Het |
Arfgap2 |
T |
A |
2: 91,095,982 (GRCm39) |
C46* |
probably null |
Het |
Arhgef26 |
T |
A |
3: 62,247,981 (GRCm39) |
L355Q |
probably damaging |
Het |
B4galnt4 |
C |
T |
7: 140,644,983 (GRCm39) |
T219I |
probably damaging |
Het |
Bap1 |
C |
T |
14: 30,979,243 (GRCm39) |
|
probably benign |
Het |
Catip |
T |
G |
1: 74,401,954 (GRCm39) |
L43R |
probably damaging |
Het |
Ccdc177 |
G |
A |
12: 80,805,282 (GRCm39) |
R331C |
unknown |
Het |
Cep85l |
T |
C |
10: 53,195,690 (GRCm39) |
|
probably null |
Het |
Cfap206 |
T |
A |
4: 34,714,502 (GRCm39) |
Q398L |
probably benign |
Het |
Clec18a |
A |
G |
8: 111,800,368 (GRCm39) |
C352R |
probably damaging |
Het |
Clic6 |
A |
T |
16: 92,336,339 (GRCm39) |
Y549F |
probably damaging |
Het |
Cpne9 |
C |
T |
6: 113,270,034 (GRCm39) |
|
probably benign |
Het |
Cyb5r3 |
A |
C |
15: 83,042,836 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,090,471 (GRCm39) |
R2293K |
probably damaging |
Het |
Dnmbp |
C |
A |
19: 43,890,879 (GRCm39) |
R296L |
probably damaging |
Het |
Dtwd1 |
C |
A |
2: 125,996,694 (GRCm39) |
Q60K |
probably benign |
Het |
Esyt1 |
C |
A |
10: 128,352,443 (GRCm39) |
V723L |
probably benign |
Het |
Fbxo42 |
T |
C |
4: 140,926,335 (GRCm39) |
L339P |
probably damaging |
Het |
Furin |
A |
T |
7: 80,043,169 (GRCm39) |
N347K |
probably damaging |
Het |
Fzd7 |
T |
C |
1: 59,522,522 (GRCm39) |
M135T |
probably damaging |
Het |
Garin1b |
A |
G |
6: 29,323,896 (GRCm39) |
D207G |
probably damaging |
Het |
Hlf |
A |
G |
11: 90,278,632 (GRCm39) |
M144T |
probably benign |
Het |
Hyal5 |
C |
T |
6: 24,876,648 (GRCm39) |
Q174* |
probably null |
Het |
Kcnb1 |
T |
A |
2: 166,947,103 (GRCm39) |
M582L |
possibly damaging |
Het |
Kdm5d |
T |
C |
Y: 916,692 (GRCm39) |
Y391H |
probably damaging |
Het |
Khdc4 |
T |
A |
3: 88,604,032 (GRCm39) |
I283N |
probably damaging |
Het |
Kif21b |
C |
T |
1: 136,096,966 (GRCm39) |
T1297M |
probably damaging |
Het |
Krt8 |
T |
G |
15: 101,906,875 (GRCm39) |
N317T |
possibly damaging |
Het |
Lctl |
G |
T |
9: 64,045,196 (GRCm39) |
V372L |
probably benign |
Het |
Lig1 |
C |
T |
7: 13,042,432 (GRCm39) |
H822Y |
possibly damaging |
Het |
Lrrc4b |
A |
G |
7: 44,111,988 (GRCm39) |
D620G |
possibly damaging |
Het |
Mboat4 |
C |
T |
8: 34,582,275 (GRCm39) |
H10Y |
probably benign |
Het |
Med1 |
A |
T |
11: 98,048,066 (GRCm39) |
M910K |
probably benign |
Het |
Mia2 |
A |
T |
12: 59,154,911 (GRCm39) |
D209V |
probably damaging |
Het |
Mpp4 |
C |
T |
1: 59,184,017 (GRCm39) |
|
probably benign |
Het |
Mrgprb1 |
A |
T |
7: 48,097,225 (GRCm39) |
V229E |
possibly damaging |
Het |
Mtor |
T |
A |
4: 148,548,189 (GRCm39) |
C485S |
probably damaging |
Het |
Mx1 |
T |
C |
16: 97,258,628 (GRCm39) |
D23G |
probably damaging |
Het |
Myrfl |
T |
C |
10: 116,619,138 (GRCm39) |
D740G |
probably benign |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Nav2 |
G |
A |
7: 49,185,661 (GRCm39) |
V874I |
probably damaging |
Het |
Ntrk3 |
A |
T |
7: 78,110,914 (GRCm39) |
N262K |
possibly damaging |
Het |
Opa1 |
A |
T |
16: 29,437,077 (GRCm39) |
D699V |
probably damaging |
Het |
Or10u4 |
C |
T |
10: 129,802,078 (GRCm39) |
A164T |
probably benign |
Het |
Or8b51 |
A |
G |
9: 38,569,374 (GRCm39) |
C105R |
possibly damaging |
Het |
Otud7a |
A |
G |
7: 63,407,181 (GRCm39) |
N495D |
possibly damaging |
Het |
Pcsk9 |
T |
C |
4: 106,320,950 (GRCm39) |
D53G |
probably benign |
Het |
Pdcd5 |
A |
G |
7: 35,346,421 (GRCm39) |
|
probably benign |
Het |
Phf21a |
C |
T |
2: 92,058,822 (GRCm39) |
P28L |
probably damaging |
Het |
Pitpnm1 |
T |
A |
19: 4,158,130 (GRCm39) |
D573E |
probably damaging |
Het |
Ppp1r35 |
C |
T |
5: 137,777,406 (GRCm39) |
|
probably benign |
Het |
Ptprq |
T |
C |
10: 107,535,496 (GRCm39) |
Q423R |
probably damaging |
Het |
Pum1 |
A |
T |
4: 130,490,125 (GRCm39) |
Y699F |
probably benign |
Het |
Rabgef1 |
A |
G |
5: 130,241,841 (GRCm39) |
D415G |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,413,943 (GRCm39) |
E23G |
probably benign |
Het |
Rpia |
G |
T |
6: 70,760,563 (GRCm39) |
C121* |
probably null |
Het |
Sanbr |
A |
G |
11: 23,525,483 (GRCm39) |
*719Q |
probably null |
Het |
Serpinb13 |
T |
A |
1: 106,926,427 (GRCm39) |
W201R |
probably damaging |
Het |
Sh3bp4 |
T |
C |
1: 89,065,456 (GRCm39) |
C17R |
probably damaging |
Het |
Sh3d21 |
A |
G |
4: 126,055,858 (GRCm39) |
|
probably benign |
Het |
Slamf6 |
A |
C |
1: 171,764,249 (GRCm39) |
N214T |
probably damaging |
Het |
Slc7a2 |
T |
C |
8: 41,361,130 (GRCm39) |
Y365H |
possibly damaging |
Het |
Sox18 |
T |
C |
2: 181,312,971 (GRCm39) |
|
probably null |
Het |
Spink7 |
A |
T |
18: 62,725,507 (GRCm39) |
F79I |
possibly damaging |
Het |
Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
Sspo |
A |
T |
6: 48,470,244 (GRCm39) |
H4561L |
probably damaging |
Het |
Tcaf1 |
T |
C |
6: 42,653,793 (GRCm39) |
K700R |
probably benign |
Het |
Tcf25 |
G |
T |
8: 124,115,372 (GRCm39) |
R203L |
probably damaging |
Het |
Tcp11 |
T |
C |
17: 28,290,757 (GRCm39) |
I201V |
possibly damaging |
Het |
Tex2 |
T |
C |
11: 106,437,615 (GRCm39) |
D685G |
unknown |
Het |
Themis |
G |
T |
10: 28,637,195 (GRCm39) |
E100* |
probably null |
Het |
Tmem52b |
G |
A |
6: 129,491,221 (GRCm39) |
|
probably null |
Het |
Tnr |
C |
T |
1: 159,512,226 (GRCm39) |
|
probably benign |
Het |
Tox3 |
T |
C |
8: 90,975,444 (GRCm39) |
I396V |
probably benign |
Het |
Tpm2 |
T |
A |
4: 43,514,828 (GRCm39) |
E269V |
probably benign |
Het |
Tulp1 |
C |
T |
17: 28,581,651 (GRCm39) |
|
probably benign |
Het |
Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
Ube2j2 |
A |
C |
4: 156,033,515 (GRCm39) |
K30Q |
possibly damaging |
Het |
Usp19 |
T |
A |
9: 108,369,807 (GRCm39) |
M1K |
probably null |
Het |
Vmn2r52 |
C |
A |
7: 9,910,197 (GRCm39) |
R6L |
probably benign |
Het |
Zbed4 |
G |
A |
15: 88,665,290 (GRCm39) |
V453M |
probably benign |
Het |
Zfp319 |
T |
C |
8: 96,055,099 (GRCm39) |
E368G |
probably benign |
Het |
Zfp366 |
A |
C |
13: 99,366,117 (GRCm39) |
E426A |
probably damaging |
Het |
Zfp687 |
A |
T |
3: 94,916,777 (GRCm39) |
I783N |
probably damaging |
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 |
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 |
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'- GCATCAGAGTAGCTCACTTGG -3'
(R):5'- TGTGATCTCCATCAGCTCTGAAC -3'
Sequencing Primer
(F):5'- ATCAGAGTAGCTCACTTGGTTTGTTC -3'
(R):5'- GCTCTGAACAAACACTGCTATTG -3'
|
Posted On |
2016-07-06 |