Incidental Mutation 'R5534:Adam18'
| ID |
434710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
043092-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5534 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25155530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 163
(D163V)
|
| 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: D163V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: D163V
| 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: D163V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: D163V
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 94.9%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
T |
3: 126,740,947 (GRCm39) |
|
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,814,442 (GRCm39) |
E355G |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,232,491 (GRCm39) |
N172S |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,510,231 (GRCm39) |
M712T |
probably damaging |
Het |
| Apcdd1 |
T |
C |
18: 63,070,105 (GRCm39) |
I124T |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,347 (GRCm39) |
K256R |
probably damaging |
Het |
| Cass4 |
G |
T |
2: 172,268,688 (GRCm39) |
V259L |
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,888,241 (GRCm39) |
V508A |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 58,024,450 (GRCm39) |
S226P |
possibly damaging |
Het |
| Cep72 |
T |
C |
13: 74,210,335 (GRCm39) |
E9G |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,621,227 (GRCm39) |
Y616N |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,054,939 (GRCm39) |
S117P |
possibly damaging |
Het |
| Col11a2 |
C |
T |
17: 34,269,998 (GRCm39) |
A429V |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,465,238 (GRCm39) |
E979G |
unknown |
Het |
| Coq10b |
T |
C |
1: 55,103,359 (GRCm39) |
Y46H |
possibly damaging |
Het |
| Cplane1 |
C |
A |
15: 8,258,319 (GRCm39) |
F2188L |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,943,596 (GRCm39) |
T3169A |
possibly damaging |
Het |
| Dock6 |
G |
A |
9: 21,714,372 (GRCm39) |
R1824* |
probably null |
Het |
| Dsp |
A |
C |
13: 38,379,818 (GRCm39) |
I1589L |
probably benign |
Het |
| Edil3 |
A |
G |
13: 89,347,593 (GRCm39) |
T383A |
probably benign |
Het |
| Efemp1 |
T |
C |
11: 28,817,758 (GRCm39) |
V79A |
probably damaging |
Het |
| Esyt1 |
C |
T |
10: 128,355,329 (GRCm39) |
V471I |
probably benign |
Het |
| Fbxo30 |
T |
C |
10: 11,165,409 (GRCm39) |
S44P |
possibly damaging |
Het |
| Fdx2 |
G |
T |
9: 20,984,562 (GRCm39) |
D57E |
probably benign |
Het |
| Gbp11 |
A |
T |
5: 105,478,904 (GRCm39) |
V178D |
probably damaging |
Het |
| Gna11 |
A |
T |
10: 81,366,967 (GRCm39) |
I283N |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 63,480,345 (GRCm39) |
Q53L |
probably benign |
Het |
| Jmjd6 |
A |
G |
11: 116,731,252 (GRCm39) |
S266P |
probably damaging |
Het |
| Kirrel1 |
G |
A |
3: 86,997,825 (GRCm39) |
R233C |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,735,238 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,686,267 (GRCm39) |
T1171S |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,210,191 (GRCm39) |
S650R |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,709,632 (GRCm39) |
|
probably null |
Het |
| Mgat1 |
T |
C |
11: 49,151,976 (GRCm39) |
V153A |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,110,452 (GRCm39) |
D416V |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,987,870 (GRCm39) |
R1448W |
probably damaging |
Het |
| Nedd1 |
A |
T |
10: 92,530,894 (GRCm39) |
F398L |
probably benign |
Het |
| Or2a14 |
A |
G |
6: 43,130,567 (GRCm39) |
I109M |
probably benign |
Het |
| Or4k45 |
T |
C |
2: 111,395,349 (GRCm39) |
T147A |
probably benign |
Het |
| Or5ac17 |
T |
C |
16: 59,036,403 (GRCm39) |
D191G |
probably benign |
Het |
| Or5g9 |
T |
C |
2: 85,552,331 (GRCm39) |
I194T |
probably benign |
Het |
| Otud3 |
A |
G |
4: 138,624,894 (GRCm39) |
L269P |
probably damaging |
Het |
| Otx1 |
A |
G |
11: 21,946,296 (GRCm39) |
|
probably benign |
Het |
| Pcdhga7 |
A |
C |
18: 37,849,331 (GRCm39) |
D446A |
probably damaging |
Het |
| Pcnx2 |
T |
G |
8: 126,564,754 (GRCm39) |
K1046N |
possibly damaging |
Het |
| Pfkp |
C |
A |
13: 6,698,619 (GRCm39) |
G33W |
probably damaging |
Het |
| Poglut2 |
C |
T |
1: 44,151,837 (GRCm39) |
V351M |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,188,043 (GRCm39) |
I585T |
probably damaging |
Het |
| Pole4 |
A |
G |
6: 82,629,115 (GRCm39) |
Y84H |
possibly damaging |
Het |
| Pramel26 |
G |
T |
4: 143,539,169 (GRCm39) |
S108* |
probably null |
Het |
| Ptpn23 |
A |
G |
9: 110,221,809 (GRCm39) |
S126P |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rin3 |
T |
C |
12: 102,353,891 (GRCm39) |
L766P |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rras2 |
G |
A |
7: 113,649,650 (GRCm39) |
T138I |
possibly damaging |
Het |
| Scrn2 |
A |
G |
11: 96,921,751 (GRCm39) |
I74V |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,501,735 (GRCm39) |
I526T |
possibly damaging |
Het |
| Shd |
G |
T |
17: 56,278,577 (GRCm39) |
E47* |
probably null |
Het |
| Slc22a27 |
T |
C |
19: 7,903,996 (GRCm39) |
H47R |
probably damaging |
Het |
| Slc36a3 |
C |
G |
11: 55,033,595 (GRCm39) |
W141S |
possibly damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,376,977 (GRCm39) |
V429E |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,976,296 (GRCm39) |
D428E |
probably benign |
Het |
| Snrpe |
A |
T |
1: 133,534,211 (GRCm39) |
F84Y |
probably benign |
Het |
| Tbc1d2b |
C |
T |
9: 90,109,559 (GRCm39) |
D306N |
possibly damaging |
Het |
| Trav9n-4 |
A |
G |
14: 53,532,356 (GRCm39) |
Y70C |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,936,367 (GRCm39) |
F843L |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,870,847 (GRCm39) |
I330T |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,488,349 (GRCm39) |
L12P |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,436,713 (GRCm39) |
S2047P |
unknown |
Het |
| Zfp763 |
A |
C |
17: 33,240,768 (GRCm39) |
S20R |
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 |
|
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'- AATGGCTAATCTTCCTGCATTG -3'
(R):5'- CACATTTCAGGTGATAGCTTTGAGG -3'
Sequencing Primer
(F):5'- GCTAATCTTCCTGCATTGTTTAATGG -3'
(R):5'- TTGCATGGTTTTGATAATAATTGCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation