Incidental Mutation 'R0280:Adam18'
| ID |
37460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
038502-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0280 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25164070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 38
(G38R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000033958]
[ENSMUST00000167431]
[ENSMUST00000170318]
[ENSMUST00000173833]
|
| AlphaFold |
Q9R157 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
AA Change: G38R
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: G38R
| 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: ENSMUST00000033958
|
| SMART Domains |
Protein: ENSMUSP00000033958
Gene: ENSMUSG00000031553
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
144 |
3.8e-30 |
PFAM |
|
Pfam:Reprolysin_5
|
185 |
361 |
6.8e-9 |
PFAM |
|
Pfam:Reprolysin
|
187 |
384 |
1.6e-64 |
PFAM |
|
Pfam:Reprolysin_3
|
211 |
333 |
1.2e-8 |
PFAM |
|
DISIN
|
404 |
482 |
5.58e-32 |
SMART |
|
ACR
|
483 |
614 |
4.1e-50 |
SMART |
|
EGF
|
622 |
653 |
1.66e1 |
SMART |
|
transmembrane domain
|
689 |
709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167431
|
| SMART Domains |
Protein: ENSMUSP00000127479
Gene: ENSMUSG00000031553
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170318
|
| SMART Domains |
Protein: ENSMUSP00000132620
Gene: ENSMUSG00000031553
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
118 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173833
AA Change: G38R
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: G38R
| 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: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
96% (55/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Ankrd16 |
T |
G |
2: 11,786,312 (GRCm39) |
V187G |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,396,487 (GRCm39) |
N793Y |
probably benign |
Het |
| Ccdc170 |
T |
C |
10: 4,508,663 (GRCm39) |
I629T |
possibly damaging |
Het |
| Clcn6 |
A |
G |
4: 148,093,172 (GRCm39) |
L836P |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Crocc |
T |
C |
4: 140,755,737 (GRCm39) |
E1097G |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,321,616 (GRCm39) |
V494E |
probably damaging |
Het |
| Drg1 |
A |
T |
11: 3,206,537 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,840,206 (GRCm39) |
K134E |
possibly damaging |
Het |
| Dyrk1b |
T |
C |
7: 27,883,737 (GRCm39) |
Y198H |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,806,951 (GRCm39) |
D289G |
probably benign |
Het |
| Esr1 |
G |
T |
10: 4,889,289 (GRCm39) |
V396F |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,243,133 (GRCm39) |
V339A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,944,965 (GRCm39) |
Q1286L |
probably benign |
Het |
| Fcsk |
A |
T |
8: 111,621,380 (GRCm39) |
V188D |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,887,681 (GRCm39) |
H1118R |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,852 (GRCm39) |
D321N |
probably benign |
Het |
| Gaa |
T |
G |
11: 119,175,373 (GRCm39) |
V917G |
probably damaging |
Het |
| Gm973 |
GCC |
GC |
1: 59,583,839 (GRCm39) |
|
probably null |
Het |
| Kidins220 |
A |
G |
12: 25,060,140 (GRCm39) |
T767A |
probably damaging |
Het |
| Kif7 |
A |
G |
7: 79,348,571 (GRCm39) |
S1257P |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,194,726 (GRCm39) |
L1391P |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,236,439 (GRCm39) |
Y681H |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,240,564 (GRCm39) |
V291A |
possibly damaging |
Het |
| Metrn |
C |
T |
17: 26,014,109 (GRCm39) |
R239H |
probably benign |
Het |
| Mphosph10 |
C |
A |
7: 64,026,451 (GRCm39) |
K666N |
possibly damaging |
Het |
| Mtbp |
C |
T |
15: 55,449,857 (GRCm39) |
T433I |
probably benign |
Het |
| Mtmr2 |
A |
G |
9: 13,710,545 (GRCm39) |
K365E |
probably damaging |
Het |
| Nanog |
A |
G |
6: 122,690,357 (GRCm39) |
D229G |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,520,679 (GRCm39) |
T123A |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,131,840 (GRCm39) |
N338S |
possibly damaging |
Het |
| Nphp4 |
T |
A |
4: 152,636,393 (GRCm39) |
|
probably benign |
Het |
| Odad4 |
A |
T |
11: 100,441,091 (GRCm39) |
K107N |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,137,417 (GRCm39) |
F289S |
possibly damaging |
Het |
| Plcl2 |
A |
G |
17: 50,914,062 (GRCm39) |
E357G |
probably damaging |
Het |
| Polb |
A |
T |
8: 23,130,408 (GRCm39) |
Y173N |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,090,512 (GRCm39) |
S74T |
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,246,782 (GRCm39) |
C37S |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,432,511 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,541,197 (GRCm39) |
S369G |
probably damaging |
Het |
| Sgf29 |
A |
G |
7: 126,270,743 (GRCm39) |
E108G |
probably benign |
Het |
| Sh3tc1 |
A |
G |
5: 35,863,361 (GRCm39) |
L942P |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,874,187 (GRCm39) |
L188* |
probably null |
Het |
| Slc9a3 |
T |
A |
13: 74,307,543 (GRCm39) |
I445N |
probably damaging |
Het |
| Sufu |
A |
T |
19: 46,439,112 (GRCm39) |
|
probably benign |
Het |
| Tomm40 |
G |
A |
7: 19,447,676 (GRCm39) |
T118I |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,570,823 (GRCm39) |
R26690H |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,005 (GRCm39) |
I293V |
possibly damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,457 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
C |
G |
7: 84,882,466 (GRCm39) |
|
probably null |
Het |
| Vsig8 |
A |
G |
1: 172,389,105 (GRCm39) |
D119G |
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 |
|
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 |
|
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'- ATTTGCACATCGGGTCCTCGTC -3'
(R):5'- AACACGGCTTGGAATGGGACTAC -3'
Sequencing Primer
(F):5'- CATCGGGTCCTCGTCATGTAG -3'
(R):5'- TGGGACTACCACGGATTCAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation