Incidental Mutation 'R9000:Adam18'
| ID |
684914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam18
|
| Ensembl Gene |
ENSMUSG00000031552 |
| Gene Name |
a disintegrin and metallopeptidase domain 18 |
| Synonyms |
Dtgn3, Adam27 |
| MMRRC Submission |
068831-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9000 (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 25127162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 478
(H478L)
|
| 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: H478L
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: H478L
| 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: H478L
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: H478L
| 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: 99.3%
|
| Validation Efficiency |
90% (55/61) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,353,195 (GRCm39) |
N749S |
probably damaging |
Het |
| Acsl5 |
T |
C |
19: 55,283,943 (GRCm39) |
*684Q |
probably null |
Het |
| Actr5 |
A |
T |
2: 158,478,610 (GRCm39) |
T487S |
probably benign |
Het |
| Adam5 |
A |
T |
8: 25,294,372 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,854,570 (GRCm39) |
N475S |
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,105,650 (GRCm39) |
R2907H |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,476,628 (GRCm39) |
V1330A |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,637,333 (GRCm39) |
M443K |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,254,725 (GRCm39) |
H753Q |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,065,281 (GRCm39) |
H311R |
|
Het |
| Cdh23 |
A |
G |
10: 60,140,277 (GRCm39) |
Y3222H |
possibly damaging |
Het |
| Ces2f |
A |
G |
8: 105,677,661 (GRCm39) |
D222G |
probably benign |
Het |
| Cnot9 |
C |
T |
1: 74,561,544 (GRCm39) |
R130C |
probably benign |
Het |
| Cntnap2 |
G |
A |
6: 46,461,139 (GRCm39) |
|
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,769,197 (GRCm39) |
L932P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 37,074,643 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
A |
C |
12: 110,606,397 (GRCm39) |
Q2489P |
probably benign |
Het |
| Elovl2 |
A |
G |
13: 41,338,810 (GRCm39) |
L280S |
probably benign |
Het |
| Fat1 |
C |
A |
8: 45,497,587 (GRCm39) |
Y4357* |
probably null |
Het |
| Fat3 |
T |
A |
9: 15,871,816 (GRCm39) |
Q3525L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,918,095 (GRCm39) |
I1443V |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,806,211 (GRCm39) |
I457T |
probably damaging |
Het |
| Kcnq5 |
G |
T |
1: 21,557,483 (GRCm39) |
F332L |
probably damaging |
Het |
| Meiob |
A |
G |
17: 25,047,916 (GRCm39) |
|
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,769 (GRCm39) |
L53P |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,901,740 (GRCm39) |
V832I |
unknown |
Het |
| Nckap5l |
G |
A |
15: 99,321,310 (GRCm39) |
P1186S |
probably damaging |
Het |
| Ndufa4l2 |
A |
T |
10: 127,350,898 (GRCm39) |
R16S |
probably benign |
Het |
| Nrg2 |
T |
C |
18: 36,151,682 (GRCm39) |
Y620C |
probably damaging |
Het |
| Or4p4b-ps1 |
T |
A |
2: 88,454,525 (GRCm39) |
*293R |
probably null |
Het |
| Or52a24 |
T |
C |
7: 103,381,672 (GRCm39) |
S180P |
probably damaging |
Het |
| Pip4k2a |
T |
G |
2: 18,877,240 (GRCm39) |
Y165S |
possibly damaging |
Het |
| Plcd4 |
T |
A |
1: 74,601,024 (GRCm39) |
C500* |
probably null |
Het |
| Plcl1 |
C |
T |
1: 55,736,990 (GRCm39) |
P777L |
probably damaging |
Het |
| Pnliprp2 |
T |
C |
19: 58,762,555 (GRCm39) |
Y387H |
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,595,470 (GRCm39) |
D1119E |
probably benign |
Het |
| Prss51 |
T |
C |
14: 64,332,420 (GRCm39) |
S36P |
possibly damaging |
Het |
| Prune1 |
A |
G |
3: 95,162,635 (GRCm39) |
V346A |
probably benign |
Het |
| Saxo5 |
T |
C |
8: 3,526,083 (GRCm39) |
S79P |
possibly damaging |
Het |
| Scn5a |
T |
C |
9: 119,321,171 (GRCm39) |
T1464A |
possibly damaging |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GGGG |
GGGGCCCAGCTCAGCCACAGGG |
7: 126,066,743 (GRCm39) |
|
probably benign |
Het |
| Sim1 |
T |
G |
10: 50,860,316 (GRCm39) |
I726S |
probably benign |
Het |
| Sim1 |
T |
G |
10: 50,860,317 (GRCm39) |
I726M |
possibly damaging |
Het |
| Slc38a4 |
G |
A |
15: 96,897,475 (GRCm39) |
P447S |
possibly damaging |
Het |
| Slc5a12 |
A |
G |
2: 110,454,525 (GRCm39) |
E362G |
probably damaging |
Het |
| Slc5a8 |
C |
A |
10: 88,762,089 (GRCm39) |
N576K |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,762,090 (GRCm39) |
Y577N |
probably benign |
Het |
| Snn |
A |
G |
16: 10,890,322 (GRCm39) |
E47G |
probably damaging |
Het |
| Snx19 |
T |
C |
9: 30,375,619 (GRCm39) |
V207A |
unknown |
Het |
| Srcap |
G |
A |
7: 127,130,943 (GRCm39) |
V720I |
possibly damaging |
Het |
| Syn3 |
T |
A |
10: 85,893,489 (GRCm39) |
R451S |
unknown |
Het |
| Tdrp |
A |
G |
8: 14,003,989 (GRCm39) |
V116A |
probably benign |
Het |
| Tef |
G |
A |
15: 81,695,773 (GRCm39) |
M1I |
probably null |
Het |
| Vmn1r232 |
T |
C |
17: 21,134,111 (GRCm39) |
K163R |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,986,711 (GRCm39) |
E164G |
probably damaging |
Het |
| Zcchc14 |
T |
G |
8: 122,336,880 (GRCm39) |
H178P |
unknown |
Het |
| Zfp37 |
T |
G |
4: 62,126,651 (GRCm39) |
K69T |
unknown |
Het |
| Zfp947 |
A |
G |
17: 22,365,161 (GRCm39) |
L171P |
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 |
|
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'- AAAGTGTGACCCAGACTCTTCC -3'
(R):5'- TTAGCCCCTCAATTAGCCAC -3'
Sequencing Primer
(F):5'- CTCATCGAGGCTCTAGGGTAG -3'
(R):5'- TTAGCCACAACCAGCCATGTTTAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation