Incidental Mutation 'R2211:Adam18'
| ID |
239380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
040213-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25118171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 34
(S34P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000138232]
[ENSMUST00000173833]
|
| AlphaFold |
Q9R157 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
AA Change: S582P
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: S582P
| 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 damaging
Transcript: ENSMUST00000138232
AA Change: S34P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173833
AA Change: S582P
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: S582P
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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 |
|---|
| Adam23 |
T |
A |
1: 63,612,288 (GRCm39) |
|
probably benign |
Het |
| Adcy10 |
A |
T |
1: 165,345,781 (GRCm39) |
I277F |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,467,993 (GRCm39) |
S1736T |
possibly damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,886,451 (GRCm39) |
M242K |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,437,680 (GRCm39) |
S268P |
possibly damaging |
Het |
| Astn1 |
A |
G |
1: 158,484,876 (GRCm39) |
R4G |
probably benign |
Het |
| AU041133 |
G |
A |
10: 81,986,755 (GRCm39) |
C135Y |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,268,288 (GRCm39) |
V53A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,301,783 (GRCm39) |
D428G |
possibly damaging |
Het |
| Cebpa |
T |
C |
7: 34,819,891 (GRCm39) |
S350P |
probably damaging |
Het |
| Cftr |
A |
G |
6: 18,214,279 (GRCm39) |
M152V |
probably null |
Het |
| Cpa4 |
A |
G |
6: 30,583,649 (GRCm39) |
N255S |
possibly damaging |
Het |
| Ddx51 |
T |
A |
5: 110,803,634 (GRCm39) |
D343E |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,518,932 (GRCm39) |
I2942V |
probably benign |
Het |
| Dnajc1 |
G |
T |
2: 18,397,286 (GRCm39) |
A9E |
probably damaging |
Het |
| Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
| Edem3 |
A |
G |
1: 151,680,453 (GRCm39) |
D526G |
possibly damaging |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Etaa1 |
G |
A |
11: 17,902,686 (GRCm39) |
Q84* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam149a |
G |
A |
8: 45,794,046 (GRCm39) |
T674I |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,845,940 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
G |
3: 38,945,676 (GRCm39) |
N1523S |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,758,361 (GRCm39) |
T529A |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,526,870 (GRCm39) |
A447V |
probably damaging |
Het |
| Hap1 |
G |
A |
11: 100,245,550 (GRCm39) |
T138M |
probably benign |
Het |
| Hic1 |
T |
A |
11: 75,060,210 (GRCm39) |
R46W |
possibly damaging |
Het |
| Id4 |
T |
A |
13: 48,415,278 (GRCm39) |
L102Q |
probably damaging |
Het |
| Il3ra |
T |
C |
14: 14,355,029 (GRCm38) |
C271R |
probably benign |
Het |
| Ints4 |
T |
C |
7: 97,158,957 (GRCm39) |
I443T |
possibly damaging |
Het |
| Lmln |
A |
G |
16: 32,930,148 (GRCm39) |
E535G |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,623 (GRCm39) |
H345R |
probably benign |
Het |
| Ltbp3 |
T |
C |
19: 5,803,990 (GRCm39) |
I834T |
possibly damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Ms4a18 |
C |
A |
19: 10,974,669 (GRCm39) |
V341L |
probably benign |
Het |
| Nbr1 |
T |
C |
11: 101,458,090 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
C |
11: 79,334,890 (GRCm39) |
M914T |
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,366,952 (GRCm39) |
H861L |
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,470,089 (GRCm39) |
F341L |
probably damaging |
Het |
| Ogfod2 |
C |
A |
5: 124,250,843 (GRCm39) |
|
probably null |
Het |
| Oit3 |
T |
C |
10: 59,263,892 (GRCm39) |
D414G |
probably damaging |
Het |
| Or6c5c |
A |
T |
10: 129,298,809 (GRCm39) |
K88M |
probably damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,320 (GRCm39) |
H191R |
probably benign |
Het |
| Or8k32 |
T |
C |
2: 86,368,857 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or9q2 |
T |
A |
19: 13,772,733 (GRCm39) |
M81L |
probably benign |
Het |
| Pals1 |
A |
T |
12: 78,844,022 (GRCm39) |
K75N |
possibly damaging |
Het |
| Pcbp4 |
C |
A |
9: 106,337,933 (GRCm39) |
H74Q |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,356,214 (GRCm39) |
D241E |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,554,015 (GRCm39) |
D102G |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,471,587 (GRCm39) |
E4K |
possibly damaging |
Het |
| Ppargc1a |
A |
C |
5: 51,631,601 (GRCm39) |
S343A |
possibly damaging |
Het |
| Ppwd1 |
G |
A |
13: 104,343,650 (GRCm39) |
S585L |
probably benign |
Het |
| Rarg |
T |
C |
15: 102,147,959 (GRCm39) |
N284S |
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
| Rp1 |
A |
C |
1: 4,418,362 (GRCm39) |
S917A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGAGGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rsph3b |
T |
C |
17: 7,209,139 (GRCm39) |
S189G |
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,511,589 (GRCm39) |
L604Q |
probably damaging |
Het |
| Sema6b |
T |
A |
17: 56,431,741 (GRCm39) |
I641F |
probably benign |
Het |
| Slc35f5 |
A |
T |
1: 125,507,001 (GRCm39) |
I309F |
possibly damaging |
Het |
| Smarca4 |
A |
G |
9: 21,597,325 (GRCm39) |
E1360G |
probably damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,183,753 (GRCm39) |
S432P |
probably benign |
Het |
| Spsb3 |
T |
C |
17: 25,109,911 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,067,034 (GRCm39) |
D1960G |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,689,645 (GRCm39) |
V345A |
possibly damaging |
Het |
| Tiam2 |
C |
A |
17: 3,465,193 (GRCm39) |
C307* |
probably null |
Het |
| Trim43b |
T |
A |
9: 88,967,302 (GRCm39) |
T444S |
possibly damaging |
Het |
| Trmt13 |
A |
G |
3: 116,388,403 (GRCm39) |
I11T |
probably benign |
Het |
| Ylpm1 |
A |
T |
12: 85,091,152 (GRCm39) |
R1073* |
probably null |
Het |
| Zfp524 |
T |
C |
7: 5,020,918 (GRCm39) |
S149P |
probably damaging |
Het |
| Zfp777 |
T |
C |
6: 48,020,819 (GRCm39) |
I312V |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGAGTATTAAAGCTCCCTTTGC -3'
(R):5'- CTGCCACGGTGCTAATTAACC -3'
Sequencing Primer
(F):5'- CCTTTGCTTGCCAATTAACACAAG -3'
(R):5'- GCCACGGTGCTAATTAACCTATTTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation