Incidental Mutation 'R9184:Adam18'
| ID |
697248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
068979-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25137847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 331
(N331I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000173833]
|
| AlphaFold |
Q9R157 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
AA Change: N331I
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: N331I
| 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: ENSMUST00000173833
AA Change: N331I
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: N331I
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
97% (60/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
T |
C |
8: 107,233,901 (GRCm39) |
V199A |
unknown |
Het |
| Abca7 |
A |
G |
10: 79,838,690 (GRCm39) |
H621R |
probably damaging |
Het |
| Akt1 |
A |
G |
12: 112,621,152 (GRCm39) |
S475P |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,543,779 (GRCm39) |
V148A |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,291,887 (GRCm39) |
L21P |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,162,214 (GRCm39) |
L692S |
probably damaging |
Het |
| C1qtnf2 |
T |
C |
11: 43,365,180 (GRCm39) |
V25A |
probably benign |
Het |
| Cald1 |
G |
T |
6: 34,730,512 (GRCm39) |
E244D |
unknown |
Het |
| Cdc42bpa |
T |
A |
1: 179,972,301 (GRCm39) |
F1368I |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,919,308 (GRCm39) |
C680Y |
probably null |
Het |
| Chd1 |
T |
A |
17: 15,962,551 (GRCm39) |
N769K |
possibly damaging |
Het |
| Clasp1 |
T |
A |
1: 118,470,908 (GRCm39) |
V848E |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
G |
T |
14: 63,375,544 (GRCm39) |
G170V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,340,552 (GRCm39) |
K2320E |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,036,592 (GRCm39) |
I3415F |
probably damaging |
Het |
| Fibcd1 |
A |
G |
2: 31,706,488 (GRCm39) |
S448P |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,805,542 (GRCm39) |
K71E |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,558,331 (GRCm39) |
V350I |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,368,311 (GRCm39) |
S1032T |
possibly damaging |
Het |
| Glis3 |
T |
C |
19: 28,509,007 (GRCm39) |
T326A |
probably damaging |
Het |
| Hspa9 |
C |
T |
18: 35,082,168 (GRCm39) |
R146H |
possibly damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kcnk15 |
G |
A |
2: 163,700,606 (GRCm39) |
V282M |
probably benign |
Het |
| Klk1b8 |
A |
G |
7: 43,602,158 (GRCm39) |
N30S |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,540,911 (GRCm39) |
Y454* |
probably null |
Het |
| Mcam |
T |
C |
9: 44,046,545 (GRCm39) |
|
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,596,182 (GRCm39) |
L1047S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,218,767 (GRCm39) |
I81T |
possibly damaging |
Het |
| Neurod4 |
A |
T |
10: 130,106,958 (GRCm39) |
D105E |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,072,067 (GRCm39) |
L592P |
probably damaging |
Het |
| Nnt |
C |
A |
13: 119,518,270 (GRCm39) |
K302N |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,806,364 (GRCm39) |
F1767S |
probably damaging |
Het |
| Or4c103 |
C |
A |
2: 88,513,519 (GRCm39) |
A186S |
possibly damaging |
Het |
| Or4c58 |
T |
A |
2: 89,675,294 (GRCm39) |
I8F |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,727,138 (GRCm39) |
I151V |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,820,460 (GRCm39) |
I670F |
possibly damaging |
Het |
| Pdp1 |
T |
C |
4: 11,962,143 (GRCm39) |
E75G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,724,249 (GRCm39) |
N1275K |
probably benign |
Het |
| Pink1 |
G |
T |
4: 138,048,321 (GRCm39) |
Q134K |
probably benign |
Het |
| Poli |
T |
A |
18: 70,642,250 (GRCm39) |
H650L |
probably damaging |
Het |
| Prickle2 |
G |
A |
6: 92,388,505 (GRCm39) |
P355L |
possibly damaging |
Het |
| Prkaca |
G |
A |
8: 84,717,305 (GRCm39) |
G194D |
probably benign |
Het |
| Ptgs2 |
A |
T |
1: 149,980,175 (GRCm39) |
Y371F |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,818,882 (GRCm38) |
|
probably benign |
Het |
| Rarb |
C |
T |
14: 16,818,881 (GRCm38) |
|
probably benign |
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,269,393 (GRCm39) |
V42G |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,782,834 (GRCm39) |
I41F |
possibly damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,018,880 (GRCm39) |
D653V |
probably damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,506,630 (GRCm39) |
V602M |
possibly damaging |
Het |
| Slu7 |
T |
C |
11: 43,334,224 (GRCm39) |
S417P |
probably damaging |
Het |
| Smad2 |
T |
A |
18: 76,422,171 (GRCm39) |
D194E |
probably benign |
Het |
| Sntg1 |
A |
T |
1: 8,748,056 (GRCm39) |
V112E |
probably damaging |
Het |
| Strip1 |
A |
T |
3: 107,521,979 (GRCm39) |
M733K |
probably benign |
Het |
| Szt2 |
G |
A |
4: 118,241,726 (GRCm39) |
S1655L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,599,949 (GRCm39) |
I19075N |
probably benign |
Het |
| Urb2 |
C |
T |
8: 124,771,890 (GRCm39) |
T1437I |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,822 (GRCm39) |
I159F |
probably benign |
Het |
| Zfp78 |
T |
C |
7: 6,382,300 (GRCm39) |
V450A |
probably damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,743,475 (GRCm39) |
H314L |
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 |
|
|
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 |
|
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 |
|
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'- AGAATGTATGCACACTTAGTCATG -3'
(R):5'- CATGTGTGCAATATGTACAGTTTTG -3'
Sequencing Primer
(F):5'- CACACTTAGTCATGATTAGGGGC -3'
(R):5'- TGTGCAATATGTACAGTTTTGTAAGG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation