Incidental Mutation 'R9567:Adam18'
ID |
721689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam18
|
Ensembl Gene |
ENSMUSG00000031552 |
Gene Name |
a disintegrin and metallopeptidase domain 18 |
Synonyms |
Dtgn3, Adam27 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9567 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 25118210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 569
(V569I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000138232]
[ENSMUST00000173833]
|
AlphaFold |
Q9R157 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
AA Change: V569I
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000033957 Gene: ENSMUSG00000031552 AA Change: V569I
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
AA Change: V21I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173833
AA Change: V569I
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000133378 Gene: ENSMUSG00000031552 AA Change: V569I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
C |
T |
13: 119,602,793 (GRCm39) |
P52S |
probably damaging |
Het |
6820408C15Rik |
C |
A |
2: 152,270,867 (GRCm39) |
P30Q |
probably damaging |
Het |
Adnp2 |
A |
T |
18: 80,174,133 (GRCm39) |
L92Q |
probably damaging |
Het |
Ahi1 |
C |
T |
10: 20,857,300 (GRCm39) |
H632Y |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,127,311 (GRCm39) |
N3720D |
possibly damaging |
Het |
Alpk3 |
T |
C |
7: 80,742,687 (GRCm39) |
S835P |
possibly damaging |
Het |
Amer3 |
C |
T |
1: 34,627,836 (GRCm39) |
L692F |
probably benign |
Het |
Anks6 |
T |
A |
4: 47,044,880 (GRCm39) |
D342V |
unknown |
Het |
Arap2 |
G |
T |
5: 62,761,841 (GRCm39) |
F1628L |
probably benign |
Het |
Arhgap21 |
T |
G |
2: 20,896,953 (GRCm39) |
I108L |
possibly damaging |
Het |
Cacna1h |
T |
C |
17: 25,612,487 (GRCm39) |
I404V |
probably damaging |
Het |
Cacna2d3 |
G |
T |
14: 28,627,268 (GRCm39) |
A1077E |
probably benign |
Het |
Cacng6 |
T |
C |
7: 3,483,281 (GRCm39) |
V203A |
probably benign |
Het |
Clec1b |
A |
T |
6: 129,382,201 (GRCm39) |
D226V |
possibly damaging |
Het |
Crb1 |
A |
C |
1: 139,171,208 (GRCm39) |
S727R |
probably benign |
Het |
Dars1 |
T |
C |
1: 128,343,112 (GRCm39) |
I35V |
|
Het |
Ddo |
T |
A |
10: 40,523,913 (GRCm39) |
V301D |
probably damaging |
Het |
Diablo |
C |
A |
5: 123,662,196 (GRCm39) |
|
probably benign |
Het |
Dipk1a |
T |
A |
5: 108,057,368 (GRCm39) |
K397* |
probably null |
Het |
Dnhd1 |
C |
A |
7: 105,353,473 (GRCm39) |
H2875Q |
probably benign |
Het |
E230025N22Rik |
A |
G |
18: 36,820,336 (GRCm39) |
L282P |
|
Het |
Ebna1bp2 |
A |
G |
4: 118,478,190 (GRCm39) |
Q21R |
probably benign |
Het |
Exoc7 |
C |
T |
11: 116,195,724 (GRCm39) |
V93I |
probably benign |
Het |
Foxk1 |
T |
A |
5: 142,387,713 (GRCm39) |
Y145* |
probably null |
Het |
Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,798,173 (GRCm39) |
T489M |
probably benign |
Het |
Gbf1 |
C |
T |
19: 46,260,046 (GRCm39) |
T1067I |
|
Het |
Ggta1 |
T |
A |
2: 35,313,333 (GRCm39) |
T3S |
possibly damaging |
Het |
Guf1 |
T |
A |
5: 69,721,951 (GRCm39) |
V370E |
possibly damaging |
Het |
Hmg20a |
A |
G |
9: 56,384,472 (GRCm39) |
S81G |
probably benign |
Het |
Igf2r |
G |
A |
17: 12,905,641 (GRCm39) |
T2230I |
probably damaging |
Het |
Ighmbp2 |
A |
T |
19: 3,332,785 (GRCm39) |
M1K |
probably null |
Het |
Klhdc9 |
T |
C |
1: 171,187,914 (GRCm39) |
T106A |
probably benign |
Het |
Kti12 |
T |
C |
4: 108,705,935 (GRCm39) |
M283T |
possibly damaging |
Het |
Lrig3 |
C |
T |
10: 125,845,964 (GRCm39) |
P798S |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,711,469 (GRCm39) |
F333L |
probably damaging |
Het |
Lyn |
T |
A |
4: 3,746,757 (GRCm39) |
D178E |
probably benign |
Het |
Magi1 |
G |
A |
6: 93,655,431 (GRCm39) |
A1405V |
probably damaging |
Het |
Magi1 |
A |
C |
6: 93,659,931 (GRCm39) |
|
probably null |
Het |
Mdga1 |
G |
A |
17: 30,076,569 (GRCm39) |
P68S |
probably damaging |
Het |
Mfsd8 |
T |
C |
3: 40,793,933 (GRCm39) |
S25G |
probably benign |
Het |
Mgat1 |
C |
A |
11: 49,152,694 (GRCm39) |
S392R |
probably benign |
Het |
Mtmr2 |
C |
T |
9: 13,713,301 (GRCm39) |
Q493* |
probably null |
Het |
Myocd |
A |
T |
11: 65,078,410 (GRCm39) |
S462T |
probably damaging |
Het |
Ndnf |
A |
G |
6: 65,681,164 (GRCm39) |
Y481C |
probably damaging |
Het |
Neb |
G |
T |
2: 52,065,138 (GRCm39) |
R6258S |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,063,624 (GRCm39) |
M11V |
probably benign |
Het |
Nup93 |
T |
C |
8: 95,035,604 (GRCm39) |
S658P |
possibly damaging |
Het |
Obox2 |
T |
A |
7: 15,130,771 (GRCm39) |
M1K |
probably null |
Het |
Or10ag55-ps1 |
T |
A |
2: 87,115,037 (GRCm39) |
Y134* |
probably null |
Het |
Or10g9 |
T |
A |
9: 39,912,367 (GRCm39) |
H52L |
possibly damaging |
Het |
Or1e20-ps1 |
G |
T |
11: 73,324,789 (GRCm39) |
H88N |
unknown |
Het |
Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,710,884 (GRCm39) |
I144F |
possibly damaging |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,982 (GRCm39) |
T259I |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,763,436 (GRCm39) |
T685A |
|
Het |
Pecam1 |
T |
C |
11: 106,588,121 (GRCm39) |
T139A |
possibly damaging |
Het |
Pi15 |
T |
A |
1: 17,695,178 (GRCm39) |
L265Q |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,394,173 (GRCm39) |
F2053L |
probably damaging |
Het |
Ppp1r36 |
A |
G |
12: 76,485,900 (GRCm39) |
I353V |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,157,004 (GRCm39) |
S961G |
probably benign |
Het |
Rbm42 |
T |
C |
7: 30,345,395 (GRCm39) |
R151G |
possibly damaging |
Het |
Rnf224 |
T |
C |
2: 25,126,354 (GRCm39) |
|
probably benign |
Het |
Scn2a |
C |
T |
2: 65,518,974 (GRCm39) |
T400I |
probably damaging |
Het |
Slc17a5 |
T |
A |
9: 78,445,562 (GRCm39) |
Q457L |
possibly damaging |
Het |
Slc5a4a |
A |
T |
10: 76,022,396 (GRCm39) |
D577V |
probably benign |
Het |
Stim2 |
A |
G |
5: 54,232,707 (GRCm39) |
D123G |
probably damaging |
Het |
Stxbp5l |
A |
G |
16: 37,061,734 (GRCm39) |
F359L |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,196,386 (GRCm39) |
D3882G |
possibly damaging |
Het |
Synj1 |
G |
T |
16: 90,790,912 (GRCm39) |
S83Y |
possibly damaging |
Het |
Tfip11 |
C |
T |
5: 112,479,029 (GRCm39) |
T199I |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,669,644 (GRCm39) |
S1389T |
probably benign |
Het |
Tiam1 |
T |
A |
16: 89,591,653 (GRCm39) |
D1349V |
probably damaging |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Ucn3 |
T |
A |
13: 3,991,313 (GRCm39) |
D113V |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,306,370 (GRCm39) |
D173G |
possibly damaging |
Het |
Uimc1 |
C |
A |
13: 55,188,427 (GRCm39) |
R544L |
possibly damaging |
Het |
Unc13c |
T |
C |
9: 73,536,485 (GRCm39) |
S1623G |
probably damaging |
Het |
Vmn2r41 |
T |
C |
7: 8,141,391 (GRCm39) |
N691S |
probably benign |
Het |
Wdr24 |
T |
A |
17: 26,043,190 (GRCm39) |
M4K |
probably damaging |
Het |
Wdr48 |
T |
C |
9: 119,741,454 (GRCm39) |
F332L |
probably benign |
Het |
Xpo7 |
A |
G |
14: 70,903,466 (GRCm39) |
V1080A |
probably benign |
Het |
Zc3h3 |
A |
T |
15: 75,651,261 (GRCm39) |
I653N |
probably damaging |
Het |
Zfp1005 |
A |
T |
2: 150,109,517 (GRCm39) |
H69L |
possibly damaging |
Het |
Zfp362 |
T |
A |
4: 128,688,681 (GRCm39) |
M1L |
unknown |
Het |
Zfp503 |
A |
G |
14: 22,036,041 (GRCm39) |
C292R |
possibly 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 |
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 |
R9603:Adam18
|
UTSW |
8 |
25,118,147 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGTGGTAGCCATCGTGG -3'
(R):5'- CTGCCACGGTGCTAATTAACC -3'
Sequencing Primer
(F):5'- GCAATTAGCATACATTGACAGAGC -3'
(R):5'- GCCACGGTGCTAATTAACCTATTTG -3'
|
Posted On |
2022-08-09 |