Incidental Mutation 'IGL02966:Adam18'
ID |
365617 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adam18
|
Ensembl Gene |
ENSMUSG00000031552 |
Gene Name |
a disintegrin and metallopeptidase domain 18 |
Synonyms |
Dtgn3, Adam27 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02966
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 25101165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000138232]
[ENSMUST00000173833]
|
AlphaFold |
Q9R157 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
|
SMART Domains |
Protein: ENSMUSP00000033957 Gene: ENSMUSG00000031552
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
|
SMART Domains |
Protein: ENSMUSP00000133378 Gene: ENSMUSG00000031552
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 |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595M18Rik |
A |
T |
X: 80,463,317 (GRCm39) |
Y797N |
possibly damaging |
Het |
Actbl2 |
G |
A |
13: 111,392,106 (GRCm39) |
G147E |
probably damaging |
Het |
Ahcyl2 |
G |
A |
6: 29,880,556 (GRCm39) |
V175I |
probably benign |
Het |
Alox12 |
T |
A |
11: 70,140,911 (GRCm39) |
T375S |
probably damaging |
Het |
Batf2 |
C |
A |
19: 6,221,819 (GRCm39) |
Q210K |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,385,494 (GRCm39) |
S76P |
probably damaging |
Het |
Bphl |
A |
T |
13: 34,247,980 (GRCm39) |
H251L |
probably damaging |
Het |
C130074G19Rik |
C |
A |
1: 184,614,943 (GRCm39) |
E82D |
probably damaging |
Het |
Calu |
A |
T |
6: 29,356,584 (GRCm39) |
K39* |
probably null |
Het |
Capns1 |
T |
C |
7: 29,891,618 (GRCm39) |
D142G |
probably damaging |
Het |
Ccr8 |
T |
C |
9: 119,923,206 (GRCm39) |
V107A |
probably damaging |
Het |
Cep170b |
G |
A |
12: 112,702,878 (GRCm39) |
G447D |
possibly damaging |
Het |
Chat |
C |
T |
14: 32,170,903 (GRCm39) |
V199M |
probably damaging |
Het |
Cntnap1 |
G |
T |
11: 101,075,575 (GRCm39) |
V918L |
probably damaging |
Het |
Cyp27a1 |
A |
G |
1: 74,771,249 (GRCm39) |
T145A |
probably benign |
Het |
Dgkq |
T |
A |
5: 108,804,287 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,369,948 (GRCm39) |
I4458V |
probably benign |
Het |
Enpp1 |
T |
A |
10: 24,536,172 (GRCm39) |
E409D |
probably damaging |
Het |
Fam78b |
G |
T |
1: 166,906,457 (GRCm39) |
L205F |
probably damaging |
Het |
Foxr2 |
C |
A |
X: 151,913,677 (GRCm39) |
R183S |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,264,129 (GRCm39) |
S361P |
probably damaging |
Het |
Gfra4 |
C |
A |
2: 130,884,560 (GRCm39) |
A15S |
possibly damaging |
Het |
Gm8011 |
A |
T |
14: 42,287,957 (GRCm39) |
D145V |
unknown |
Het |
Gnb4 |
A |
G |
3: 32,639,372 (GRCm39) |
V307A |
probably benign |
Het |
Hdac4 |
A |
T |
1: 91,982,667 (GRCm39) |
V17E |
possibly damaging |
Het |
Herc6 |
G |
A |
6: 57,560,318 (GRCm39) |
|
probably null |
Het |
Hivep3 |
A |
G |
4: 119,989,383 (GRCm39) |
T1945A |
probably benign |
Het |
Ica1l |
A |
T |
1: 60,049,298 (GRCm39) |
N218K |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,274,887 (GRCm39) |
L1939Q |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Marchf8 |
C |
T |
6: 116,380,499 (GRCm39) |
R117C |
probably damaging |
Het |
Megf6 |
T |
C |
4: 154,338,234 (GRCm39) |
S327P |
probably damaging |
Het |
Mocos |
T |
G |
18: 24,809,668 (GRCm39) |
C424G |
probably damaging |
Het |
Mrpl50 |
A |
G |
4: 49,521,014 (GRCm39) |
W14R |
probably benign |
Het |
Mysm1 |
A |
T |
4: 94,863,523 (GRCm39) |
D23E |
probably benign |
Het |
Naa35 |
T |
A |
13: 59,734,085 (GRCm39) |
D34E |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,656,806 (GRCm39) |
I646V |
probably benign |
Het |
Nupr1 |
T |
C |
7: 126,224,073 (GRCm39) |
|
probably benign |
Het |
Or2aj6 |
G |
T |
16: 19,443,051 (GRCm39) |
H266Q |
probably damaging |
Het |
Or5b24 |
A |
T |
19: 12,912,164 (GRCm39) |
I21F |
probably benign |
Het |
Or8b12b |
T |
G |
9: 37,684,882 (GRCm39) |
L309R |
probably benign |
Het |
Pcbp2 |
A |
C |
15: 102,392,684 (GRCm39) |
|
probably benign |
Het |
Pde8b |
T |
C |
13: 95,232,156 (GRCm39) |
Q158R |
probably damaging |
Het |
Pdzd8 |
T |
C |
19: 59,289,291 (GRCm39) |
Y703C |
probably damaging |
Het |
Plxnb3 |
T |
C |
X: 72,808,889 (GRCm39) |
S885P |
probably benign |
Het |
Poc1b |
T |
A |
10: 98,980,176 (GRCm39) |
C136S |
probably damaging |
Het |
Pole2 |
T |
C |
12: 69,256,649 (GRCm39) |
D292G |
probably damaging |
Het |
Prpf39 |
T |
C |
12: 65,089,553 (GRCm39) |
V97A |
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,838,869 (GRCm39) |
H183Q |
possibly damaging |
Het |
Scn2a |
C |
T |
2: 65,532,188 (GRCm39) |
T600M |
possibly damaging |
Het |
Spata32 |
T |
C |
11: 103,099,629 (GRCm39) |
Q292R |
possibly damaging |
Het |
Sugp1 |
T |
C |
8: 70,523,758 (GRCm39) |
|
probably benign |
Het |
Sult3a1 |
A |
C |
10: 33,753,269 (GRCm39) |
|
probably benign |
Het |
Tpm3-rs7 |
C |
T |
14: 113,552,810 (GRCm39) |
Q235* |
probably null |
Het |
Trbv2 |
A |
T |
6: 41,024,685 (GRCm39) |
T34S |
possibly damaging |
Het |
Tssk6 |
A |
G |
8: 70,355,535 (GRCm39) |
Y193C |
probably benign |
Het |
Ttn |
T |
C |
2: 76,538,802 (GRCm39) |
K34676R |
possibly damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,479,101 (GRCm39) |
K1072E |
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 |
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 |
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 |
|
Posted On |
2015-12-18 |