Incidental Mutation 'R8882:Adam18'
| ID |
676983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
068750-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8882 (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 C
at 25136438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 361
(D361G)
|
| 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: D361G
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: D361G
| 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: D361G
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: D361G
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (55/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
A |
T |
13: 111,392,033 (GRCm39) |
I123L |
probably benign |
Het |
| Adcyap1r1 |
G |
A |
6: 55,468,219 (GRCm39) |
V352M |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,978,106 (GRCm39) |
L75P |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,355,949 (GRCm39) |
S856P |
probably benign |
Het |
| Asprv1 |
G |
T |
6: 86,605,349 (GRCm39) |
C65F |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,654,193 (GRCm39) |
|
probably null |
Het |
| Cd55 |
A |
G |
1: 130,387,501 (GRCm39) |
V99A |
probably benign |
Het |
| Cit |
G |
A |
5: 116,001,089 (GRCm39) |
A163T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,155,481 (GRCm39) |
D711E |
probably benign |
Het |
| Dnajc15 |
A |
T |
14: 78,094,411 (GRCm39) |
V41E |
probably damaging |
Het |
| Dock2 |
GCACACACACA |
GCACACACACACA |
11: 34,595,436 (GRCm39) |
453 |
probably null |
Het |
| Dst |
T |
C |
1: 34,240,005 (GRCm39) |
S1785P |
probably damaging |
Het |
| Efhb |
A |
G |
17: 53,769,712 (GRCm39) |
V199A |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,202,909 (GRCm39) |
G498D |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,304,957 (GRCm39) |
I562T |
|
Het |
| Fh1 |
C |
T |
1: 175,437,353 (GRCm39) |
V249I |
possibly damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,704 (GRCm39) |
I245T |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,209,629 (GRCm39) |
|
probably null |
Het |
| Hip1r |
A |
G |
5: 124,140,025 (GRCm39) |
K1043E |
probably damaging |
Het |
| Htt |
G |
A |
5: 34,979,061 (GRCm39) |
V815I |
probably benign |
Het |
| Jrk |
A |
G |
15: 74,579,004 (GRCm39) |
Y94H |
probably damaging |
Het |
| Krit1 |
T |
A |
5: 3,886,864 (GRCm39) |
N704K |
possibly damaging |
Het |
| Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,257,703 (GRCm39) |
Y440* |
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,882,793 (GRCm39) |
T216A |
possibly damaging |
Het |
| Or1e1f |
T |
G |
11: 73,855,940 (GRCm39) |
C169G |
probably damaging |
Het |
| Or4a79 |
G |
T |
2: 89,551,740 (GRCm39) |
C238* |
probably null |
Het |
| Or5ae2 |
T |
C |
7: 84,505,681 (GRCm39) |
Y37H |
probably damaging |
Het |
| Or7e176 |
T |
C |
9: 20,171,256 (GRCm39) |
F40S |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,461 (GRCm39) |
Y35* |
probably null |
Het |
| Parva |
T |
C |
7: 112,027,211 (GRCm39) |
S14P |
probably benign |
Het |
| Pax6 |
A |
C |
2: 105,521,963 (GRCm39) |
N207H |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,378,619 (GRCm39) |
N314S |
|
Het |
| Phlpp1 |
T |
A |
1: 106,320,372 (GRCm39) |
S1456T |
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,677,428 (GRCm39) |
V933A |
probably damaging |
Het |
| Rasgef1b |
A |
G |
5: 99,524,860 (GRCm39) |
S100P |
probably benign |
Het |
| Rpn2 |
A |
G |
2: 157,136,102 (GRCm39) |
H170R |
probably benign |
Het |
| Sbds |
A |
G |
5: 130,282,778 (GRCm39) |
|
probably null |
Het |
| Scube2 |
G |
C |
7: 109,451,680 (GRCm39) |
L158V |
probably damaging |
Het |
| Slc16a12 |
C |
A |
19: 34,649,854 (GRCm39) |
V394L |
probably benign |
Het |
| Slc23a2 |
A |
T |
2: 131,933,159 (GRCm39) |
Y100N |
possibly damaging |
Het |
| Slc30a9 |
G |
T |
5: 67,473,044 (GRCm39) |
E43* |
probably null |
Het |
| Specc1l |
A |
T |
10: 75,065,689 (GRCm39) |
M1L |
unknown |
Het |
| Sspo |
T |
A |
6: 48,452,390 (GRCm39) |
C2785S |
probably damaging |
Het |
| Star |
T |
C |
8: 26,302,897 (GRCm39) |
S280P |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,534,341 (GRCm39) |
M127K |
probably benign |
Het |
| Tbx19 |
C |
T |
1: 164,966,780 (GRCm39) |
V365M |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,435,062 (GRCm39) |
D788G |
unknown |
Het |
| Tspyl1 |
A |
G |
10: 34,158,494 (GRCm39) |
E73G |
possibly damaging |
Het |
| Ulk2 |
C |
T |
11: 61,698,887 (GRCm39) |
|
probably null |
Het |
| Vmn2r120 |
A |
T |
17: 57,852,229 (GRCm39) |
M29K |
probably benign |
Het |
| Vmn2r60 |
C |
A |
7: 41,790,518 (GRCm39) |
Q502K |
probably benign |
Het |
| Xpo5 |
A |
G |
17: 46,538,666 (GRCm39) |
D624G |
possibly damaging |
Het |
| Zfp119b |
T |
C |
17: 56,246,923 (GRCm39) |
R88G |
possibly damaging |
Het |
| Zfp879 |
C |
A |
11: 50,724,763 (GRCm39) |
E98* |
probably null |
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 |
|
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'- ATGCAGCGTTGACAACAGG -3'
(R):5'- GTTTTACATCGAACCTCCACTG -3'
Sequencing Primer
(F):5'- CAGCGTTGACAACAGGAAAAATG -3'
(R):5'- TCGAACCTCCACTGAAGTATAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation