Incidental Mutation 'R6329:Adam18'
| ID |
509396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
044483-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6329 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25104843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 657
(G657V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000138232]
[ENSMUST00000173833]
|
| AlphaFold |
Q9R157 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033957
AA Change: G657V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: G657V
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,879,457 (GRCm39) |
H72R |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,227,937 (GRCm39) |
N660I |
probably damaging |
Het |
| Actr8 |
C |
T |
14: 29,715,041 (GRCm39) |
R619* |
probably null |
Het |
| Adcyap1 |
A |
G |
17: 93,510,227 (GRCm39) |
E85G |
probably benign |
Het |
| Akr1c14 |
A |
G |
13: 4,137,302 (GRCm39) |
Y305C |
probably damaging |
Het |
| Ankdd1b |
T |
A |
13: 96,591,388 (GRCm39) |
H37L |
possibly damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,903,636 (GRCm39) |
L846P |
probably benign |
Het |
| Aqp9 |
A |
T |
9: 71,039,966 (GRCm39) |
Y105* |
probably null |
Het |
| Arid1b |
C |
T |
17: 5,387,538 (GRCm39) |
Q1664* |
probably null |
Het |
| Aup1 |
A |
G |
6: 83,031,588 (GRCm39) |
|
probably benign |
Het |
| Bnip1 |
C |
A |
17: 27,005,684 (GRCm39) |
S64* |
probably null |
Het |
| Calcr |
T |
A |
6: 3,687,621 (GRCm39) |
Q422L |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,539,147 (GRCm39) |
D407V |
possibly damaging |
Het |
| Ccdc66 |
G |
T |
14: 27,208,441 (GRCm39) |
S760R |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,577,193 (GRCm39) |
E38V |
probably damaging |
Het |
| Cggbp1 |
T |
C |
16: 64,676,383 (GRCm39) |
Y150H |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,252,510 (GRCm39) |
K263R |
possibly damaging |
Het |
| Col4a2 |
T |
A |
8: 11,496,238 (GRCm39) |
F1620I |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,435,662 (GRCm39) |
T858A |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,580,273 (GRCm39) |
D1554V |
probably damaging |
Het |
| Dnajc25 |
A |
T |
4: 59,013,678 (GRCm39) |
Q132L |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Ehbp1l1 |
A |
C |
19: 5,768,795 (GRCm39) |
I836S |
possibly damaging |
Het |
| Elf1 |
A |
G |
14: 79,810,779 (GRCm39) |
Q288R |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,150,393 (GRCm39) |
V2608L |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,268,551 (GRCm39) |
I232T |
possibly damaging |
Het |
| Fuca1 |
T |
A |
4: 135,662,137 (GRCm39) |
I355N |
probably damaging |
Het |
| Gcnt4 |
A |
G |
13: 97,083,781 (GRCm39) |
D359G |
probably damaging |
Het |
| Gm5134 |
T |
C |
10: 75,790,494 (GRCm39) |
M30T |
possibly damaging |
Het |
| Grk1 |
T |
G |
8: 13,455,704 (GRCm39) |
L196R |
probably damaging |
Het |
| Igkv14-126 |
A |
C |
6: 67,873,548 (GRCm39) |
D92A |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,520,600 (GRCm39) |
S1837P |
probably benign |
Het |
| Lhx4 |
T |
A |
1: 155,578,300 (GRCm39) |
T281S |
probably benign |
Het |
| Lrrc55 |
G |
T |
2: 85,026,653 (GRCm39) |
H124N |
probably benign |
Het |
| Marchf8 |
T |
A |
6: 116,383,277 (GRCm39) |
I566N |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,288 (GRCm39) |
A3091V |
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,458,847 (GRCm39) |
N355S |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,920,411 (GRCm39) |
V278A |
probably benign |
Het |
| Nod1 |
T |
C |
6: 54,921,689 (GRCm39) |
M210V |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,422,138 (GRCm39) |
C63* |
probably null |
Het |
| Or1e1f |
A |
G |
11: 73,855,568 (GRCm39) |
I45V |
possibly damaging |
Het |
| Or1j17 |
A |
T |
2: 36,578,694 (GRCm39) |
K227* |
probably null |
Het |
| Or4g7 |
C |
T |
2: 111,309,573 (GRCm39) |
A148V |
possibly damaging |
Het |
| Or5d37 |
G |
A |
2: 87,924,008 (GRCm39) |
P91S |
probably damaging |
Het |
| Or7g21 |
A |
C |
9: 19,032,253 (GRCm39) |
M1L |
probably benign |
Het |
| Or8b37 |
T |
C |
9: 37,959,121 (GRCm39) |
V201A |
probably benign |
Het |
| Or8g24 |
C |
T |
9: 38,989,199 (GRCm39) |
V281I |
probably benign |
Het |
| Osbp2 |
T |
A |
11: 3,665,153 (GRCm39) |
S517C |
probably damaging |
Het |
| Pcdha1 |
C |
T |
18: 37,065,301 (GRCm39) |
P655L |
probably damaging |
Het |
| Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
| Perp |
G |
A |
10: 18,731,502 (GRCm39) |
G154S |
probably damaging |
Het |
| Perp |
G |
T |
10: 18,731,503 (GRCm39) |
G154V |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,850 (GRCm39) |
T340A |
probably damaging |
Het |
| Prokr1 |
T |
G |
6: 87,558,774 (GRCm39) |
T204P |
possibly damaging |
Het |
| Prpf3 |
A |
T |
3: 95,739,890 (GRCm39) |
C630S |
probably damaging |
Het |
| Pter |
C |
A |
2: 12,985,359 (GRCm39) |
H230N |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,724,427 (GRCm39) |
Y1167* |
probably null |
Het |
| Rad54l2 |
T |
C |
9: 106,595,121 (GRCm39) |
I279V |
possibly damaging |
Het |
| Rora |
T |
A |
9: 69,280,468 (GRCm39) |
L347Q |
probably damaging |
Het |
| Runx1t1 |
T |
G |
4: 13,785,136 (GRCm39) |
M1R |
probably null |
Het |
| Sdcbp |
A |
G |
4: 6,381,064 (GRCm39) |
S70G |
probably benign |
Het |
| Serpinb12 |
A |
G |
1: 106,881,493 (GRCm39) |
Y210C |
probably damaging |
Het |
| Sipa1 |
T |
C |
19: 5,701,517 (GRCm39) |
E1015G |
probably damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,572,144 (GRCm39) |
L740R |
possibly damaging |
Het |
| Specc1 |
A |
G |
11: 62,047,379 (GRCm39) |
E916G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,041,743 (GRCm39) |
I1371T |
possibly damaging |
Het |
| Tagln3 |
T |
C |
16: 45,533,365 (GRCm39) |
M130V |
probably benign |
Het |
| Tchh |
A |
T |
3: 93,353,752 (GRCm39) |
E1064V |
unknown |
Het |
| Tdp1 |
A |
T |
12: 99,880,330 (GRCm39) |
S464C |
probably damaging |
Het |
| Tdp1 |
G |
C |
12: 99,880,331 (GRCm39) |
S464T |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,884 (GRCm39) |
Y1374C |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,402,833 (GRCm39) |
Y455* |
probably null |
Het |
| Ttc5 |
A |
G |
14: 51,003,385 (GRCm39) |
V433A |
possibly damaging |
Het |
| Wnt5a |
A |
T |
14: 28,240,449 (GRCm39) |
R180* |
probably null |
Het |
| Zfp53 |
A |
G |
17: 21,728,372 (GRCm39) |
D135G |
probably benign |
Het |
| Zfp619 |
T |
A |
7: 39,186,969 (GRCm39) |
C1000S |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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'- GGTTGAATGCCTCTGAGAAAACTC -3'
(R):5'- GTCATGTATGCCCTTCAATTATGC -3'
Sequencing Primer
(F):5'- TCGGGCTGTGAAAGATTT -3'
(R):5'- GCACATTCCTCATATTGTATAGCTAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation