Incidental Mutation 'R1552:Adam18'
ID |
170010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam18
|
Ensembl Gene |
ENSMUSG00000031552 |
Gene Name |
a disintegrin and metallopeptidase domain 18 |
Synonyms |
Dtgn3, Adam27 |
MMRRC Submission |
039591-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1552 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 25136377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 381
(H381Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000173833]
|
AlphaFold |
Q9R157 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
AA Change: H381Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000033957 Gene: ENSMUSG00000031552 AA Change: H381Q
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: H381Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133378 Gene: ENSMUSG00000031552 AA Change: H381Q
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
Validation Efficiency |
97% (71/73) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
T |
A |
16: 20,217,617 (GRCm39) |
I365F |
probably damaging |
Het |
Abhd15 |
T |
C |
11: 77,406,233 (GRCm39) |
L70P |
probably damaging |
Het |
Ankfy1 |
T |
C |
11: 72,645,321 (GRCm39) |
|
probably null |
Het |
Arcn1 |
C |
T |
9: 44,670,291 (GRCm39) |
A112T |
probably damaging |
Het |
Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
Calhm1 |
C |
T |
19: 47,129,640 (GRCm39) |
R294H |
probably benign |
Het |
Ccdc121rt1 |
A |
G |
1: 181,338,556 (GRCm39) |
L132P |
probably damaging |
Het |
Cdk5rap1 |
T |
C |
2: 154,212,615 (GRCm39) |
E81G |
probably benign |
Het |
Cep170 |
T |
C |
1: 176,610,060 (GRCm39) |
|
probably benign |
Het |
Cep350 |
C |
T |
1: 155,786,484 (GRCm39) |
R1454Q |
possibly damaging |
Het |
Chrna3 |
C |
A |
9: 54,923,192 (GRCm39) |
E205D |
probably benign |
Het |
Chst5 |
T |
C |
8: 112,616,912 (GRCm39) |
D236G |
probably damaging |
Het |
Coro1a |
T |
C |
7: 126,299,124 (GRCm39) |
N367D |
probably benign |
Het |
Cyp3a16 |
T |
C |
5: 145,373,346 (GRCm39) |
I474V |
probably benign |
Het |
Cyth3 |
G |
A |
5: 143,683,505 (GRCm39) |
V87I |
probably benign |
Het |
Dclk3 |
C |
A |
9: 111,317,647 (GRCm39) |
T761K |
probably damaging |
Het |
Dvl2 |
T |
A |
11: 69,897,198 (GRCm39) |
M300K |
possibly damaging |
Het |
Eefsec |
C |
T |
6: 88,353,182 (GRCm39) |
|
probably benign |
Het |
Exog |
T |
C |
9: 119,274,176 (GRCm39) |
S54P |
unknown |
Het |
Fasn |
A |
G |
11: 120,709,384 (GRCm39) |
S519P |
probably damaging |
Het |
Gas8 |
G |
A |
8: 124,247,385 (GRCm39) |
A16T |
probably benign |
Het |
Got2 |
A |
G |
8: 96,596,122 (GRCm39) |
S333P |
probably benign |
Het |
Hadhb |
T |
A |
5: 30,381,931 (GRCm39) |
L287Q |
probably null |
Het |
Ift57 |
A |
G |
16: 49,579,716 (GRCm39) |
T211A |
probably benign |
Het |
Il1rap |
A |
G |
16: 26,541,184 (GRCm39) |
E475G |
possibly damaging |
Het |
Ilkap |
A |
T |
1: 91,312,316 (GRCm39) |
D11E |
probably damaging |
Het |
Impact |
T |
C |
18: 13,117,337 (GRCm39) |
S137P |
probably benign |
Het |
Jarid2 |
T |
C |
13: 45,064,675 (GRCm39) |
V920A |
probably damaging |
Het |
Kcnk18 |
A |
T |
19: 59,223,890 (GRCm39) |
H345L |
probably damaging |
Het |
Kdm4d |
A |
T |
9: 14,375,325 (GRCm39) |
Y178N |
probably damaging |
Het |
Klk1b1 |
A |
G |
7: 43,618,767 (GRCm39) |
Y48C |
probably damaging |
Het |
Klra5 |
G |
T |
6: 129,886,848 (GRCm39) |
T60K |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,806,270 (GRCm39) |
L643H |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,013,067 (GRCm39) |
|
probably null |
Het |
Lingo2 |
A |
G |
4: 35,708,315 (GRCm39) |
V555A |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,162,946 (GRCm39) |
S251P |
probably damaging |
Het |
Mc4r |
T |
C |
18: 66,992,766 (GRCm39) |
S116G |
probably benign |
Het |
Mipol1 |
T |
C |
12: 57,352,874 (GRCm39) |
V71A |
possibly damaging |
Het |
Myo15b |
A |
C |
11: 115,757,461 (GRCm39) |
S1104R |
probably benign |
Het |
Nek1 |
T |
A |
8: 61,459,771 (GRCm39) |
D26E |
probably damaging |
Het |
Neu1 |
C |
T |
17: 35,151,089 (GRCm39) |
|
probably benign |
Het |
Npffr2 |
T |
C |
5: 89,730,975 (GRCm39) |
S302P |
possibly damaging |
Het |
Or8b48 |
T |
C |
9: 38,492,675 (GRCm39) |
M34T |
probably benign |
Het |
Palmd |
T |
A |
3: 116,741,689 (GRCm39) |
|
probably benign |
Het |
Pcdh8 |
A |
T |
14: 80,008,047 (GRCm39) |
V172E |
probably benign |
Het |
Pnpla6 |
C |
A |
8: 3,572,403 (GRCm39) |
Q291K |
probably damaging |
Het |
Pou2af2 |
T |
A |
9: 51,202,870 (GRCm39) |
S95C |
probably damaging |
Het |
Prkch |
T |
C |
12: 73,749,320 (GRCm39) |
F357L |
probably benign |
Het |
Ptprj |
A |
T |
2: 90,301,497 (GRCm39) |
Y212N |
probably damaging |
Het |
Reln |
G |
T |
5: 22,165,376 (GRCm39) |
H2061N |
probably benign |
Het |
Rint1 |
T |
A |
5: 24,005,656 (GRCm39) |
S113T |
probably benign |
Het |
Rnf38 |
G |
C |
4: 44,142,468 (GRCm39) |
|
probably null |
Het |
Slc30a4 |
T |
A |
2: 122,527,936 (GRCm39) |
I374L |
probably benign |
Het |
Slfn10-ps |
T |
C |
11: 82,920,676 (GRCm39) |
|
noncoding transcript |
Het |
Smcp |
A |
T |
3: 92,491,710 (GRCm39) |
C46S |
unknown |
Het |
Smu1 |
A |
C |
4: 40,748,570 (GRCm39) |
V240G |
probably damaging |
Het |
Srsf5 |
A |
G |
12: 80,996,519 (GRCm39) |
|
probably benign |
Het |
Stn1 |
T |
C |
19: 47,524,812 (GRCm39) |
|
probably null |
Het |
Stx18 |
A |
G |
5: 38,262,335 (GRCm39) |
E63G |
probably damaging |
Het |
Tas2r130 |
A |
G |
6: 131,607,130 (GRCm39) |
Y222H |
probably benign |
Het |
Tescl |
G |
T |
7: 24,032,758 (GRCm39) |
P189Q |
probably benign |
Het |
Tlr1 |
A |
G |
5: 65,084,203 (GRCm39) |
S125P |
probably damaging |
Het |
Ugt2a2 |
G |
T |
5: 87,609,880 (GRCm39) |
D566E |
possibly damaging |
Het |
Unc13b |
A |
T |
4: 43,237,144 (GRCm39) |
T3405S |
probably damaging |
Het |
Upf1 |
G |
A |
8: 70,785,709 (GRCm39) |
Q1046* |
probably null |
Het |
Wwox |
T |
A |
8: 115,172,090 (GRCm39) |
Y61* |
probably null |
Het |
Zfhx4 |
C |
T |
3: 5,468,170 (GRCm39) |
T2776M |
probably damaging |
Het |
Zranb3 |
G |
A |
1: 127,888,488 (GRCm39) |
|
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 |
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 |
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'- CGTCTTCTCGACTCAAGAGATGCC -3'
(R):5'- ACCAGTGGAGCACAGTCAGGATATG -3'
Sequencing Primer
(F):5'- aggaggggcacaatttcac -3'
(R):5'- CACAGTCAGGATATGGTGTTTTAG -3'
|
Posted On |
2014-04-13 |