Incidental Mutation 'R8411:Adam18'
| ID |
652681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
067881-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25142143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 211
(I211N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000173833]
|
| AlphaFold |
Q9R157 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033957
AA Change: I211N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: I211N
| 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 damaging
Transcript: ENSMUST00000173833
AA Change: I211N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: I211N
| 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: 99.7%
- 20x: 99.0%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,285,588 (GRCm39) |
S89P |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,361,502 (GRCm39) |
M367K |
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,290,430 (GRCm39) |
Y478C |
probably damaging |
Het |
| Apba2 |
A |
T |
7: 64,386,674 (GRCm39) |
I434F |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,286,759 (GRCm39) |
K50N |
probably benign |
Het |
| Arfgef2 |
A |
T |
2: 166,715,903 (GRCm39) |
Q1397H |
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,597,208 (GRCm39) |
R129Q |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,720,032 (GRCm39) |
V621A |
probably benign |
Het |
| Catsperz |
A |
T |
19: 6,899,930 (GRCm39) |
L192M |
probably benign |
Het |
| Cd5 |
G |
A |
19: 10,697,585 (GRCm39) |
P465S |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,789,103 (GRCm39) |
E94G |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,982,711 (GRCm39) |
H1392R |
probably damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,688,888 (GRCm39) |
I23V |
probably benign |
Het |
| Ctnnd2 |
C |
T |
15: 30,647,179 (GRCm39) |
R292C |
probably benign |
Het |
| Dcaf6 |
T |
A |
1: 165,216,244 (GRCm39) |
H453L |
probably benign |
Het |
| Dnah3 |
C |
A |
7: 119,610,253 (GRCm39) |
D1728Y |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,028,693 (GRCm39) |
K179E |
possibly damaging |
Het |
| Fam3b |
T |
A |
16: 97,283,053 (GRCm39) |
Y74F |
probably benign |
Het |
| Gm5464 |
T |
C |
14: 67,106,555 (GRCm39) |
L64P |
unknown |
Het |
| Gm5624 |
T |
G |
14: 44,799,347 (GRCm39) |
N70T |
|
Het |
| Kcnh7 |
T |
A |
2: 62,594,952 (GRCm39) |
H706L |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,018,239 (GRCm39) |
R1067H |
probably damaging |
Het |
| Klhl28 |
A |
T |
12: 64,996,864 (GRCm39) |
H492Q |
probably damaging |
Het |
| Loxl3 |
T |
A |
6: 83,027,605 (GRCm39) |
C716S |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,833,187 (GRCm39) |
Y1474H |
probably damaging |
Het |
| Mcm3 |
C |
T |
1: 20,886,980 (GRCm39) |
V142I |
probably benign |
Het |
| Mmp24 |
G |
T |
2: 155,655,935 (GRCm39) |
V458L |
probably benign |
Het |
| Mpl |
C |
A |
4: 118,303,306 (GRCm39) |
S502I |
|
Het |
| Nfatc1 |
A |
T |
18: 80,710,257 (GRCm39) |
V503D |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 120,175,807 (GRCm39) |
I133T |
possibly damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,215,031 (GRCm38) |
Y327C |
probably damaging |
Het |
| Oma1 |
C |
T |
4: 103,186,113 (GRCm39) |
R360* |
probably null |
Het |
| Oog2 |
T |
A |
4: 143,920,743 (GRCm39) |
W59R |
probably damaging |
Het |
| Or4c109 |
T |
C |
2: 88,818,409 (GRCm39) |
T46A |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,974 (GRCm39) |
E96G |
probably damaging |
Het |
| Pcna |
T |
A |
2: 132,093,850 (GRCm39) |
T98S |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,729,618 (GRCm39) |
C899Y |
possibly damaging |
Het |
| Phf11d |
T |
C |
14: 59,593,883 (GRCm39) |
N97S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 106,103,961 (GRCm39) |
W431* |
probably null |
Het |
| Plk4 |
A |
G |
3: 40,767,901 (GRCm39) |
T815A |
probably benign |
Het |
| Pnma2 |
C |
T |
14: 67,153,762 (GRCm39) |
T62I |
possibly damaging |
Het |
| Ppp1r9a |
C |
T |
6: 5,057,568 (GRCm39) |
R548W |
probably damaging |
Het |
| Ptx3 |
A |
G |
3: 66,132,201 (GRCm39) |
S241G |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rplp0 |
A |
T |
5: 115,698,823 (GRCm39) |
K26N |
probably damaging |
Het |
| Sec62 |
A |
C |
3: 30,872,931 (GRCm39) |
E338A |
unknown |
Het |
| Sema6a |
T |
C |
18: 47,382,022 (GRCm39) |
M842V |
probably benign |
Het |
| Serpina3j |
T |
C |
12: 104,281,043 (GRCm39) |
V72A |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,368 (GRCm39) |
F112S |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,705,880 (GRCm39) |
N455D |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,108,398 (GRCm39) |
F54Y |
probably benign |
Het |
| Spag6 |
G |
A |
2: 18,715,394 (GRCm39) |
V80M |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,514,498 (GRCm39) |
E34G |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,898,154 (GRCm39) |
K469E |
possibly damaging |
Het |
| Them7 |
T |
A |
2: 105,128,190 (GRCm39) |
L57Q |
probably benign |
Het |
| Tlr3 |
G |
A |
8: 45,849,978 (GRCm39) |
A897V |
probably damaging |
Het |
| Tnp2 |
A |
G |
16: 10,606,372 (GRCm39) |
C32R |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,831,332 (GRCm39) |
Q1399L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,677,015 (GRCm39) |
E11074* |
probably null |
Het |
| Ubash3b |
G |
A |
9: 40,954,781 (GRCm39) |
A243V |
probably benign |
Het |
| Vash1 |
G |
A |
12: 86,726,952 (GRCm39) |
R64Q |
possibly damaging |
Het |
| Vmn1r167 |
T |
A |
7: 23,204,981 (GRCm39) |
M12L |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,562 (GRCm39) |
H645L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,797,722 (GRCm39) |
I697K |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,308,126 (GRCm39) |
I704T |
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 |
|
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 |
|
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'- AGCATCTAAGAATAGGATCGTAGTG -3'
(R):5'- CACAGCACAGTGTTTCTGAAG -3'
Sequencing Primer
(F):5'- AGGATCGTAGTGTATGTTTCAAAAAC -3'
(R):5'- CTGTGCAAAGAGAAGTCCTGTTTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation