Incidental Mutation 'IGL02525:Adam18'
| ID |
297052 |
| 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 # |
IGL02525
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25101060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 701
(V701I)
|
| 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: V701I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: V701I
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
T |
15: 94,180,959 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
G |
T |
17: 43,760,854 (GRCm39) |
V850F |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 126,919,070 (GRCm39) |
|
probably null |
Het |
| Ap4b1 |
G |
A |
3: 103,720,164 (GRCm39) |
R62K |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Ccdc12 |
T |
A |
9: 110,540,169 (GRCm39) |
D120E |
probably damaging |
Het |
| Ccdc22 |
A |
G |
X: 7,461,249 (GRCm39) |
S529P |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,067,675 (GRCm39) |
K390E |
probably benign |
Het |
| Col1a2 |
A |
G |
6: 4,531,355 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
A |
T |
1: 136,344,743 (GRCm39) |
Q138L |
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,046,800 (GRCm39) |
F1091L |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,027,790 (GRCm39) |
V682M |
probably benign |
Het |
| Dock9 |
C |
T |
14: 121,877,538 (GRCm39) |
D404N |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,346,962 (GRCm39) |
V402A |
probably damaging |
Het |
| Erlin1 |
T |
C |
19: 44,027,634 (GRCm39) |
H268R |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,279,601 (GRCm39) |
|
probably benign |
Het |
| Fam43a |
A |
G |
16: 30,419,596 (GRCm39) |
K60R |
probably benign |
Het |
| Frmd4b |
T |
A |
6: 97,389,494 (GRCm39) |
D78V |
probably damaging |
Het |
| Gabrq |
A |
G |
X: 71,880,430 (GRCm39) |
T308A |
possibly damaging |
Het |
| Gipr |
A |
G |
7: 18,893,690 (GRCm39) |
C328R |
possibly damaging |
Het |
| Gm17078 |
T |
C |
14: 51,848,680 (GRCm39) |
N19S |
possibly damaging |
Het |
| Gm17541 |
T |
C |
12: 4,739,907 (GRCm39) |
|
probably benign |
Het |
| Gm21759 |
T |
C |
5: 8,229,967 (GRCm39) |
|
probably benign |
Het |
| Gm7964 |
A |
G |
7: 83,405,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gspt1 |
A |
G |
16: 11,048,854 (GRCm39) |
V318A |
probably damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,319 (GRCm39) |
S526G |
probably benign |
Het |
| Hey2 |
A |
G |
10: 30,718,643 (GRCm39) |
M1T |
probably null |
Het |
| Hipk3 |
T |
C |
2: 104,301,757 (GRCm39) |
D145G |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,021,777 (GRCm39) |
D886G |
probably damaging |
Het |
| Ktn1 |
T |
A |
14: 47,962,200 (GRCm39) |
|
probably null |
Het |
| Med12l |
A |
G |
3: 58,975,789 (GRCm39) |
K239R |
probably benign |
Het |
| Milr1 |
A |
T |
11: 106,656,101 (GRCm39) |
M124L |
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mterf1a |
G |
A |
5: 3,941,583 (GRCm39) |
S95F |
probably benign |
Het |
| Myef2 |
C |
A |
2: 124,955,978 (GRCm39) |
|
probably benign |
Het |
| Nfrkb |
T |
A |
9: 31,325,812 (GRCm39) |
I1085N |
possibly damaging |
Het |
| Or13f5 |
A |
T |
4: 52,825,616 (GRCm39) |
Y73F |
probably damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,536 (GRCm39) |
M42K |
possibly damaging |
Het |
| Prodh |
G |
A |
16: 17,890,332 (GRCm39) |
Q430* |
probably null |
Het |
| Pstk |
G |
T |
7: 130,972,922 (GRCm39) |
R7L |
probably benign |
Het |
| Ptgr1 |
C |
A |
4: 58,978,067 (GRCm39) |
E108D |
probably benign |
Het |
| Ptpn9 |
T |
A |
9: 56,944,009 (GRCm39) |
Y294* |
probably null |
Het |
| Rnls |
C |
T |
19: 33,115,614 (GRCm39) |
V153M |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 51,992,138 (GRCm39) |
T1362A |
possibly damaging |
Het |
| Samt3 |
G |
A |
X: 85,090,527 (GRCm39) |
A140T |
possibly damaging |
Het |
| Sbpl |
T |
A |
17: 24,173,837 (GRCm39) |
M16L |
unknown |
Het |
| Sephs1 |
G |
A |
2: 4,911,407 (GRCm39) |
C327Y |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,137,135 (GRCm39) |
I93N |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 55,551,051 (GRCm39) |
|
probably benign |
Het |
| Slc7a9 |
T |
C |
7: 35,152,860 (GRCm39) |
S93P |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,798,461 (GRCm39) |
S1444P |
probably damaging |
Het |
| Spmap2l |
T |
A |
5: 77,164,400 (GRCm39) |
D134E |
probably benign |
Het |
| Stk32b |
C |
T |
5: 37,688,977 (GRCm39) |
V116M |
probably damaging |
Het |
| Supt5 |
A |
G |
7: 28,018,372 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,147,777 (GRCm39) |
S6439T |
probably damaging |
Het |
| Taar7d |
A |
G |
10: 23,903,994 (GRCm39) |
D292G |
possibly damaging |
Het |
| Tal2 |
A |
T |
4: 53,785,971 (GRCm39) |
I51F |
probably damaging |
Het |
| Tk2 |
A |
T |
8: 104,970,032 (GRCm39) |
N77K |
probably benign |
Het |
| Tmprss3 |
T |
A |
17: 31,413,865 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf10b |
T |
C |
14: 70,019,825 (GRCm39) |
M319T |
probably damaging |
Het |
| Trim24 |
A |
G |
6: 37,922,653 (GRCm39) |
R417G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,594,658 (GRCm39) |
G18717* |
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,447 (GRCm39) |
T525A |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnt3 |
C |
T |
11: 103,703,296 (GRCm39) |
R260W |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,231,990 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,731 (GRCm39) |
T218A |
probably benign |
Het |
| Znfx1 |
C |
T |
2: 166,879,457 (GRCm39) |
E776K |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation