Incidental Mutation 'R4833:Adam18'
ID |
372991 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam18
|
Ensembl Gene |
ENSMUSG00000031552 |
Gene Name |
a disintegrin and metallopeptidase domain 18 |
Synonyms |
Dtgn3, Adam27 |
MMRRC Submission |
042449-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4833 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25164117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 22
(I22T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000033958]
[ENSMUST00000167431]
[ENSMUST00000170318]
[ENSMUST00000173833]
|
AlphaFold |
Q9R157 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033957
AA Change: I22T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000033957 Gene: ENSMUSG00000031552 AA Change: I22T
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: ENSMUST00000033958
|
SMART Domains |
Protein: ENSMUSP00000033958 Gene: ENSMUSG00000031553
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
26 |
144 |
3.8e-30 |
PFAM |
Pfam:Reprolysin_5
|
185 |
361 |
6.8e-9 |
PFAM |
Pfam:Reprolysin
|
187 |
384 |
1.6e-64 |
PFAM |
Pfam:Reprolysin_3
|
211 |
333 |
1.2e-8 |
PFAM |
DISIN
|
404 |
482 |
5.58e-32 |
SMART |
ACR
|
483 |
614 |
4.1e-50 |
SMART |
EGF
|
622 |
653 |
1.66e1 |
SMART |
transmembrane domain
|
689 |
709 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167431
|
SMART Domains |
Protein: ENSMUSP00000127479 Gene: ENSMUSG00000031553
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170318
|
SMART Domains |
Protein: ENSMUSP00000132620 Gene: ENSMUSG00000031553
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
26 |
118 |
1.3e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173833
AA Change: I22T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000133378 Gene: ENSMUSG00000031552 AA Change: I22T
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 |
0.0871 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
99% (74/75) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
C |
A |
19: 3,766,872 (GRCm39) |
T153K |
possibly damaging |
Het |
Abca5 |
A |
C |
11: 110,170,142 (GRCm39) |
Y1318D |
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,708,963 (GRCm39) |
H1147L |
possibly damaging |
Het |
Ankrd2 |
T |
C |
19: 42,032,296 (GRCm39) |
|
probably null |
Het |
Bdkrb2 |
T |
C |
12: 105,557,917 (GRCm39) |
W53R |
probably benign |
Het |
Blm |
T |
A |
7: 80,116,574 (GRCm39) |
I1111L |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,019,117 (GRCm39) |
I2007V |
probably damaging |
Het |
Bmp3 |
T |
G |
5: 99,003,066 (GRCm39) |
L32R |
probably damaging |
Het |
Cdh23 |
T |
G |
10: 60,220,817 (GRCm39) |
E1312A |
probably damaging |
Het |
Ceacam5 |
C |
T |
7: 17,486,183 (GRCm39) |
T560M |
probably benign |
Het |
Cimap1a |
T |
C |
7: 140,428,191 (GRCm39) |
M1T |
probably null |
Het |
Cmtm8 |
C |
A |
9: 114,625,233 (GRCm39) |
R66I |
probably benign |
Het |
Cnbd1 |
A |
G |
4: 18,862,120 (GRCm39) |
Y357H |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,507,323 (GRCm39) |
V252E |
unknown |
Het |
Col6a4 |
A |
T |
9: 105,949,178 (GRCm39) |
M819K |
probably benign |
Het |
Cwf19l2 |
T |
C |
9: 3,430,783 (GRCm39) |
S372P |
probably benign |
Het |
Daam2 |
A |
T |
17: 49,797,173 (GRCm39) |
I204N |
possibly damaging |
Het |
Dock6 |
T |
C |
9: 21,755,576 (GRCm39) |
D216G |
probably damaging |
Het |
Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
Erich2 |
T |
C |
2: 70,364,636 (GRCm39) |
Y311H |
possibly damaging |
Het |
Gm3985 |
A |
G |
8: 33,380,505 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1 |
A |
G |
4: 155,627,524 (GRCm39) |
T102A |
possibly damaging |
Het |
Hcfc2 |
C |
T |
10: 82,544,980 (GRCm39) |
A204V |
probably null |
Het |
Hnrnpu |
T |
C |
1: 178,161,459 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
G |
5: 35,009,569 (GRCm39) |
T1517A |
probably damaging |
Het |
Klhl6 |
T |
A |
16: 19,775,889 (GRCm39) |
D223V |
probably damaging |
Het |
Kpna6 |
A |
G |
4: 129,551,572 (GRCm39) |
S71P |
possibly damaging |
Het |
Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
Lipt1 |
T |
G |
1: 37,914,610 (GRCm39) |
L222R |
probably damaging |
Het |
Lrrc41 |
A |
G |
4: 115,950,374 (GRCm39) |
|
probably benign |
Het |
Lrrc59 |
T |
C |
11: 94,525,498 (GRCm39) |
V98A |
probably benign |
Het |
Mast4 |
A |
G |
13: 102,910,692 (GRCm39) |
|
probably null |
Het |
Mdc1 |
C |
T |
17: 36,161,286 (GRCm39) |
S733F |
probably benign |
Het |
Mknk1 |
C |
T |
4: 115,735,383 (GRCm39) |
|
probably benign |
Het |
Mtmr7 |
A |
G |
8: 41,043,505 (GRCm39) |
F141S |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,778,428 (GRCm39) |
D1G |
possibly damaging |
Het |
Or7c70 |
T |
G |
10: 78,683,409 (GRCm39) |
L113F |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,628,540 (GRCm39) |
V183E |
probably damaging |
Het |
Pola2 |
T |
C |
19: 6,003,892 (GRCm39) |
Y161C |
probably damaging |
Het |
Psen1 |
G |
A |
12: 83,778,552 (GRCm39) |
V412I |
probably benign |
Het |
Psmc4 |
C |
A |
7: 27,746,937 (GRCm39) |
G77V |
probably damaging |
Het |
Psmd3 |
A |
G |
11: 98,578,586 (GRCm39) |
Y207C |
probably damaging |
Het |
Pxk |
T |
A |
14: 8,130,653 (GRCm38) |
M84K |
probably damaging |
Het |
Rab44 |
A |
C |
17: 29,355,311 (GRCm39) |
Q19P |
probably damaging |
Het |
Rbks |
A |
G |
5: 31,781,859 (GRCm39) |
Y314H |
probably benign |
Het |
Rftn2 |
T |
C |
1: 55,253,399 (GRCm39) |
D68G |
possibly damaging |
Het |
Rims2 |
T |
A |
15: 39,399,310 (GRCm39) |
S838R |
probably damaging |
Het |
Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
Slfn14 |
A |
G |
11: 83,169,982 (GRCm39) |
L554P |
probably damaging |
Het |
Spink2 |
G |
T |
5: 77,353,239 (GRCm39) |
D83E |
possibly damaging |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
Taar8b |
A |
T |
10: 23,968,030 (GRCm39) |
S55T |
possibly damaging |
Het |
Tbca |
A |
G |
13: 94,968,918 (GRCm39) |
E35G |
probably benign |
Het |
Tmc5 |
C |
A |
7: 118,228,052 (GRCm39) |
H307Q |
probably benign |
Het |
Tmem169 |
A |
G |
1: 72,337,311 (GRCm39) |
D82G |
probably benign |
Het |
Tmem72 |
T |
C |
6: 116,675,319 (GRCm39) |
T58A |
probably benign |
Het |
Ttc7 |
C |
T |
17: 87,641,749 (GRCm39) |
P449S |
probably damaging |
Het |
Ttf2 |
T |
C |
3: 100,868,722 (GRCm39) |
E449G |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,129,857 (GRCm39) |
T659K |
probably damaging |
Het |
Wdr1 |
A |
G |
5: 38,704,372 (GRCm39) |
Y98H |
probably damaging |
Het |
Wfikkn2 |
A |
G |
11: 94,129,878 (GRCm39) |
Y88H |
probably benign |
Het |
Zfp384 |
A |
T |
6: 125,007,811 (GRCm39) |
H247L |
probably damaging |
Het |
Zfp526 |
C |
T |
7: 24,925,295 (GRCm39) |
A518V |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,296,992 (GRCm39) |
H47Q |
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 |
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'- GAAGGCTGTTCTTTGAAGTGAC -3'
(R):5'- GTGCTTCTGAGGAGGAACAG -3'
Sequencing Primer
(F):5'- TCTTTGAAGTGACCACAACCTAGGG -3'
(R):5'- TATCGAAACTCCTGTATCAAGGAAGG -3'
|
Posted On |
2016-03-01 |