Incidental Mutation 'R0135:Adam18'
| ID |
21884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
038420-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0135 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25155558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 154
(S154G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000173833]
|
| AlphaFold |
Q9R157 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033957
AA Change: S154G
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: S154G
| 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 |
possibly damaging
Transcript: ENSMUST00000173833
AA Change: S154G
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: S154G
| 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 |
0.2032 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
100% (80/80) |
| 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 |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,515 (GRCm39) |
F207S |
probably damaging |
Het |
| Abhd8 |
T |
A |
8: 71,910,718 (GRCm39) |
K363N |
probably benign |
Het |
| Adam11 |
T |
A |
11: 102,667,399 (GRCm39) |
V653E |
probably damaging |
Het |
| Adamts1 |
T |
C |
16: 85,595,591 (GRCm39) |
|
probably benign |
Het |
| Afm |
G |
T |
5: 90,698,181 (GRCm39) |
V528L |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,053,574 (GRCm39) |
H145Y |
probably benign |
Het |
| Ankmy2 |
C |
A |
12: 36,220,434 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,164,247 (GRCm39) |
|
probably benign |
Het |
| Arhgap28 |
T |
C |
17: 68,171,583 (GRCm39) |
D396G |
probably damaging |
Het |
| B430203G13Rik |
T |
C |
12: 17,974,489 (GRCm39) |
|
noncoding transcript |
Het |
| Bean1 |
C |
T |
8: 104,943,807 (GRCm39) |
P121S |
probably damaging |
Het |
| Bok |
T |
C |
1: 93,614,229 (GRCm39) |
S21P |
probably damaging |
Het |
| Brwd1 |
A |
C |
16: 95,848,304 (GRCm39) |
N572K |
probably damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,864 (GRCm39) |
V52E |
probably damaging |
Het |
| Cblif |
G |
T |
19: 11,735,118 (GRCm39) |
C246F |
probably damaging |
Het |
| Cdr2l |
C |
A |
11: 115,284,497 (GRCm39) |
P278T |
probably damaging |
Het |
| Cnga4 |
T |
A |
7: 105,056,055 (GRCm39) |
I219N |
probably damaging |
Het |
| Cpne2 |
C |
T |
8: 95,281,553 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,379 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dgcr2 |
A |
G |
16: 17,676,306 (GRCm39) |
S152P |
probably damaging |
Het |
| Dstyk |
A |
T |
1: 132,390,672 (GRCm39) |
D828V |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,937,877 (GRCm39) |
S582P |
probably damaging |
Het |
| Engase |
T |
C |
11: 118,375,304 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,918,073 (GRCm39) |
D1450G |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,208,552 (GRCm39) |
I467N |
probably damaging |
Het |
| Fhdc1 |
A |
T |
3: 84,352,925 (GRCm39) |
Y767N |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,614,204 (GRCm39) |
D105G |
probably damaging |
Het |
| Gaa |
C |
T |
11: 119,169,716 (GRCm39) |
T590I |
probably benign |
Het |
| Gabrr1 |
T |
A |
4: 33,160,224 (GRCm39) |
S303T |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,945,382 (GRCm39) |
I499M |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,143,551 (GRCm39) |
I196V |
probably benign |
Het |
| Grm6 |
G |
A |
11: 50,744,050 (GRCm39) |
E174K |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,874,062 (GRCm39) |
L2144R |
probably damaging |
Het |
| Itpr1 |
A |
T |
6: 108,465,443 (GRCm39) |
|
probably benign |
Het |
| Kcns1 |
A |
T |
2: 164,006,875 (GRCm39) |
S363T |
possibly damaging |
Het |
| Kif13a |
A |
T |
13: 46,947,419 (GRCm39) |
V855E |
probably damaging |
Het |
| Krt42 |
T |
C |
11: 100,153,985 (GRCm39) |
T424A |
possibly damaging |
Het |
| Lct |
A |
T |
1: 128,212,860 (GRCm39) |
F1931Y |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,159,251 (GRCm39) |
V1563E |
probably damaging |
Het |
| Lrrc37 |
C |
A |
11: 103,508,873 (GRCm39) |
|
probably benign |
Het |
| Lzts2 |
T |
C |
19: 45,014,626 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
C |
T |
2: 25,456,932 (GRCm39) |
R615Q |
possibly damaging |
Het |
| Mei1 |
C |
T |
15: 81,956,170 (GRCm39) |
Q133* |
probably null |
Het |
| Mif4gd |
T |
C |
11: 115,499,291 (GRCm39) |
E197G |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,640,462 (GRCm39) |
S544T |
probably benign |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Or52a5 |
T |
A |
7: 103,426,970 (GRCm39) |
D194V |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,464,663 (GRCm39) |
T114A |
probably benign |
Het |
| Pigk |
G |
T |
3: 152,450,343 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,784,045 (GRCm39) |
F197Y |
possibly damaging |
Het |
| Pld5 |
A |
T |
1: 175,798,155 (GRCm39) |
F415I |
probably damaging |
Het |
| Pnpla5 |
A |
G |
15: 83,998,150 (GRCm39) |
L364P |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,543,052 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
C |
T |
10: 10,426,584 (GRCm39) |
D121N |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,357,106 (GRCm39) |
T79S |
probably benign |
Het |
| Reln |
G |
T |
5: 22,333,647 (GRCm39) |
N258K |
probably damaging |
Het |
| Retsat |
A |
G |
6: 72,579,755 (GRCm39) |
T177A |
probably damaging |
Het |
| Serpinf2 |
T |
A |
11: 75,327,219 (GRCm39) |
H236L |
probably damaging |
Het |
| Slc26a6 |
A |
T |
9: 108,737,794 (GRCm39) |
|
probably benign |
Het |
| Slitrk1 |
T |
A |
14: 109,149,061 (GRCm39) |
E550V |
probably benign |
Het |
| Smarcd3 |
A |
T |
5: 24,800,497 (GRCm39) |
|
probably benign |
Het |
| Spdye4a |
A |
C |
5: 143,210,857 (GRCm39) |
|
probably null |
Het |
| Susd2 |
C |
T |
10: 75,474,348 (GRCm39) |
G572D |
probably damaging |
Het |
| Tcaf3 |
C |
T |
6: 42,566,692 (GRCm39) |
R799K |
probably benign |
Het |
| Tg |
A |
G |
15: 66,566,719 (GRCm39) |
S1256G |
probably benign |
Het |
| Them4 |
A |
T |
3: 94,230,877 (GRCm39) |
|
probably benign |
Het |
| Tmem210 |
C |
T |
2: 25,178,480 (GRCm39) |
A47V |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,955,616 (GRCm39) |
Y47H |
probably benign |
Het |
| Tnik |
T |
G |
3: 28,661,394 (GRCm39) |
N598K |
possibly damaging |
Het |
| Ttc3 |
A |
G |
16: 94,263,127 (GRCm39) |
N1498D |
possibly damaging |
Het |
| Ttll4 |
C |
A |
1: 74,719,087 (GRCm39) |
H313N |
possibly damaging |
Het |
| Vipr2 |
A |
G |
12: 116,106,447 (GRCm39) |
I348V |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,758,129 (GRCm39) |
V2A |
probably damaging |
Het |
| Vps72 |
G |
A |
3: 95,026,508 (GRCm39) |
R151K |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,350,968 (GRCm39) |
V1561A |
probably damaging |
Het |
| Zfp658 |
C |
A |
7: 43,223,019 (GRCm39) |
Y431* |
probably null |
Het |
| Zkscan2 |
T |
C |
7: 123,079,864 (GRCm39) |
K698E |
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 |
|
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 |
|
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'- aggaggacacctatccCAGTGAATC -3'
(R):5'- TGCATACGATCATTTGCTTTGCCG -3'
Sequencing Primer
(F):5'- AATGGCTAATCTTCCTGCATTG -3'
(R):5'- CCTGTATCACATTTCAGGTGATAGC -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation