Incidental Mutation 'R7872:Adam18'
| ID |
608185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
045924-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7872 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25101116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 682
(D682G)
|
| 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: D682G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: D682G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
C |
T |
19: 34,220,839 (GRCm39) |
D290N |
probably damaging |
Het |
| Ankrd46 |
A |
G |
15: 36,485,989 (GRCm39) |
V88A |
possibly damaging |
Het |
| Ankub1 |
T |
A |
3: 57,572,807 (GRCm39) |
K305I |
probably damaging |
Het |
| Atrn |
T |
A |
2: 130,812,147 (GRCm39) |
|
probably null |
Het |
| Bambi |
A |
T |
18: 3,511,406 (GRCm39) |
T76S |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,310,283 (GRCm39) |
V1447E |
probably damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,527,210 (GRCm39) |
M629T |
probably damaging |
Het |
| Clcn4 |
T |
C |
7: 7,290,780 (GRCm39) |
N673S |
probably benign |
Het |
| Col20a1 |
T |
C |
2: 180,628,371 (GRCm39) |
F15S |
probably benign |
Het |
| Col2a1 |
G |
A |
15: 97,898,458 (GRCm39) |
Q39* |
probably null |
Het |
| Creb3 |
A |
G |
4: 43,563,332 (GRCm39) |
E119G |
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,245,830 (GRCm39) |
D556A |
probably damaging |
Het |
| Edar |
C |
T |
10: 58,446,348 (GRCm39) |
M192I |
possibly damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,320,209 (GRCm39) |
M634V |
probably benign |
Het |
| Fbxo10 |
C |
T |
4: 45,051,699 (GRCm39) |
V471I |
not run |
Het |
| Fer1l5 |
T |
C |
1: 36,460,967 (GRCm39) |
F2032L |
probably benign |
Het |
| Gm5150 |
A |
C |
3: 16,060,485 (GRCm39) |
M1R |
probably null |
Het |
| Grin1 |
T |
C |
2: 25,188,202 (GRCm39) |
E509G |
probably benign |
Het |
| Igkv10-94 |
C |
T |
6: 68,681,913 (GRCm39) |
|
probably benign |
Het |
| Il18bp |
A |
G |
7: 101,666,002 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Ints8 |
A |
T |
4: 11,254,062 (GRCm39) |
C17S |
probably benign |
Het |
| Kcnmb1 |
T |
C |
11: 33,916,275 (GRCm39) |
Y74H |
probably damaging |
Het |
| Kpna1 |
T |
C |
16: 35,843,565 (GRCm39) |
V313A |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,321,061 (GRCm39) |
T1029I |
possibly damaging |
Het |
| Lrrc7 |
A |
T |
3: 158,059,099 (GRCm39) |
C3S |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,810,450 (GRCm39) |
H707N |
probably benign |
Het |
| Map3k20 |
A |
G |
2: 72,202,098 (GRCm39) |
K148R |
probably damaging |
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Mocs1 |
T |
A |
17: 49,746,561 (GRCm39) |
I177N |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,399,850 (GRCm39) |
D441G |
unknown |
Het |
| Ncoa1 |
T |
C |
12: 4,328,186 (GRCm39) |
N884S |
probably benign |
Het |
| Or12j4 |
A |
G |
7: 140,046,696 (GRCm39) |
N194S |
probably damaging |
Het |
| Or51a39 |
A |
G |
7: 102,363,389 (GRCm39) |
V77A |
probably benign |
Het |
| Padi6 |
A |
T |
4: 140,455,073 (GRCm39) |
F621L |
probably damaging |
Het |
| Pde8b |
C |
A |
13: 95,223,347 (GRCm39) |
M197I |
possibly damaging |
Het |
| Pear1 |
T |
A |
3: 87,659,522 (GRCm39) |
I771L |
probably benign |
Het |
| Poli |
A |
G |
18: 70,655,891 (GRCm39) |
L281P |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,530,231 (GRCm39) |
W41R |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,532,870 (GRCm39) |
S1500A |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,096,798 (GRCm39) |
H767Q |
probably benign |
Het |
| Rasgef1b |
G |
A |
5: 99,382,403 (GRCm39) |
Q196* |
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,416,096 (GRCm39) |
L121* |
probably null |
Het |
| Rpp14 |
A |
G |
14: 8,083,724 (GRCm38) |
M1V |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,610,610 (GRCm39) |
D4072V |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,102,765 (GRCm39) |
H314R |
probably damaging |
Het |
| Six4 |
CT |
C |
12: 73,151,013 (GRCm39) |
|
probably benign |
Het |
| Slc37a3 |
A |
T |
6: 39,324,244 (GRCm39) |
Y335N |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,536,837 (GRCm39) |
H9Q |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,779,057 (GRCm39) |
M1256K |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,609,910 (GRCm39) |
N126S |
probably damaging |
Het |
| Tut4 |
T |
G |
4: 108,374,715 (GRCm39) |
C933G |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,120,373 (GRCm39) |
F266S |
possibly damaging |
Het |
| Uimc1 |
A |
G |
13: 55,217,550 (GRCm39) |
V424A |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,573,873 (GRCm39) |
I1066V |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,740,404 (GRCm39) |
T12A |
probably benign |
Het |
| Vmn1r57 |
T |
A |
7: 5,223,613 (GRCm39) |
I46N |
possibly damaging |
Het |
| Vmn1r91 |
T |
C |
7: 19,835,839 (GRCm39) |
Y253H |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,369,219 (GRCm39) |
H118L |
probably benign |
Het |
| Zfp775 |
A |
G |
6: 48,597,404 (GRCm39) |
K426R |
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 |
|
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'- ACAAAGCTACTGAAGGCGC -3'
(R):5'- TTCATTCCAAGCAAGTATACAGCAC -3'
Sequencing Primer
(F):5'- GCAAGTCCGTTAACCCAGTGAG -3'
(R):5'- TAAATATGTAGAAAGCATCAATGGGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation