Incidental Mutation 'R1568:Adam18'
ID |
175423 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam18
|
Ensembl Gene |
ENSMUSG00000031552 |
Gene Name |
a disintegrin and metallopeptidase domain 18 |
Synonyms |
Dtgn3, Adam27 |
MMRRC Submission |
039607-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1568 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to G
at 25137799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033957]
[ENSMUST00000173833]
|
AlphaFold |
Q9R157 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033957
|
SMART Domains |
Protein: ENSMUSP00000033957 Gene: ENSMUSG00000031552
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
|
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: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
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 |
Adgb |
A |
T |
10: 10,318,409 (GRCm39) |
Y138* |
probably null |
Het |
Adra1d |
T |
C |
2: 131,388,092 (GRCm39) |
R488G |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,979,739 (GRCm39) |
G341E |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,808,838 (GRCm39) |
D690G |
probably damaging |
Het |
Arhgef38 |
C |
T |
3: 132,838,225 (GRCm39) |
E21K |
probably damaging |
Het |
Atp8b2 |
T |
C |
3: 89,857,155 (GRCm39) |
M402V |
probably damaging |
Het |
Atp8b4 |
G |
T |
2: 126,167,314 (GRCm39) |
H1062N |
probably benign |
Het |
Bdnf |
A |
G |
2: 109,554,139 (GRCm39) |
H131R |
probably damaging |
Het |
Cblb |
C |
T |
16: 51,956,192 (GRCm39) |
T265M |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,945,519 (GRCm39) |
M1011K |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,781,410 (GRCm39) |
Y711* |
probably null |
Het |
Clca4a |
A |
G |
3: 144,658,690 (GRCm39) |
Y842H |
probably benign |
Het |
Clspn |
T |
A |
4: 126,475,310 (GRCm39) |
M1021K |
probably benign |
Het |
Cpne8 |
G |
T |
15: 90,503,845 (GRCm39) |
R107S |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
Dsp |
T |
C |
13: 38,359,123 (GRCm39) |
I298T |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,157,553 (GRCm39) |
K858R |
probably null |
Het |
Fasn |
A |
T |
11: 120,704,075 (GRCm39) |
V1448E |
possibly damaging |
Het |
Ghdc |
A |
G |
11: 100,659,331 (GRCm39) |
I322T |
probably benign |
Het |
Gins2 |
T |
C |
8: 121,308,939 (GRCm39) |
D105G |
probably damaging |
Het |
Insr |
A |
T |
8: 3,215,576 (GRCm39) |
D975E |
probably benign |
Het |
Klrc3 |
T |
C |
6: 129,616,510 (GRCm39) |
D169G |
probably benign |
Het |
Krt76 |
T |
A |
15: 101,793,443 (GRCm39) |
S532C |
unknown |
Het |
Lamp3 |
A |
T |
16: 19,492,275 (GRCm39) |
M323K |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,360,868 (GRCm39) |
I423M |
possibly damaging |
Het |
Lpgat1 |
A |
T |
1: 191,508,538 (GRCm39) |
T359S |
possibly damaging |
Het |
Lrguk |
T |
A |
6: 34,063,373 (GRCm39) |
I466N |
probably damaging |
Het |
Magi3 |
A |
C |
3: 103,996,843 (GRCm39) |
M234R |
probably benign |
Het |
Myh14 |
G |
A |
7: 44,261,122 (GRCm39) |
R1042* |
probably null |
Het |
Nfia |
T |
G |
4: 97,999,461 (GRCm39) |
Y378D |
possibly damaging |
Het |
Npffr1 |
T |
A |
10: 61,462,012 (GRCm39) |
S383T |
possibly damaging |
Het |
Or4f57 |
C |
A |
2: 111,790,585 (GRCm39) |
V278F |
probably benign |
Het |
Or52n4 |
T |
A |
7: 104,293,977 (GRCm39) |
I199F |
probably benign |
Het |
Or5b112 |
C |
A |
19: 13,319,539 (GRCm39) |
P139Q |
probably benign |
Het |
Or9s14 |
T |
C |
1: 92,535,676 (GRCm39) |
L39P |
probably damaging |
Het |
Osr1 |
G |
A |
12: 9,629,798 (GRCm39) |
|
probably null |
Het |
Pde4b |
A |
C |
4: 102,454,896 (GRCm39) |
R375S |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,942,011 (GRCm39) |
E150G |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,408,897 (GRCm39) |
|
probably null |
Het |
Ppp3ca |
A |
G |
3: 136,634,305 (GRCm39) |
T422A |
probably benign |
Het |
Proser1 |
T |
C |
3: 53,385,180 (GRCm39) |
V354A |
possibly damaging |
Het |
Rgs20 |
G |
T |
1: 5,091,050 (GRCm39) |
R127S |
probably benign |
Het |
Sanbr |
T |
C |
11: 23,539,971 (GRCm39) |
K48E |
probably damaging |
Het |
Sec22a |
T |
C |
16: 35,167,998 (GRCm39) |
D171G |
probably benign |
Het |
Secisbp2 |
A |
G |
13: 51,827,143 (GRCm39) |
E417G |
possibly damaging |
Het |
Serpinb6b |
T |
C |
13: 33,158,895 (GRCm39) |
L32S |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Slc39a10 |
A |
T |
1: 46,865,375 (GRCm39) |
S487T |
probably benign |
Het |
Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
Spag6 |
A |
G |
2: 18,737,925 (GRCm39) |
D265G |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,724,950 (GRCm39) |
T77A |
probably benign |
Het |
Sybu |
G |
T |
15: 44,582,228 (GRCm39) |
S132* |
probably null |
Het |
Virma |
T |
C |
4: 11,528,776 (GRCm39) |
S1288P |
probably damaging |
Het |
Vmn1r229 |
T |
A |
17: 21,035,067 (GRCm39) |
V104D |
probably damaging |
Het |
Vmn1r238 |
T |
C |
18: 3,123,358 (GRCm39) |
T19A |
probably benign |
Het |
Vmn2r86 |
C |
T |
10: 130,289,010 (GRCm39) |
V164I |
probably benign |
Het |
Wfdc13 |
G |
T |
2: 164,528,854 (GRCm39) |
A64S |
probably damaging |
Het |
Zfp873 |
C |
A |
10: 81,896,113 (GRCm39) |
H318Q |
probably damaging |
Het |
Zyg11a |
A |
G |
4: 108,040,843 (GRCm39) |
|
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 |
|
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'- AGGCAACAAAGTAGCAACAGTATCATGT -3'
(R):5'- CCTACCTGTTCTGGCTTTAACCTTCAAA -3'
Sequencing Primer
(F):5'- ctgagttttatacccagcattcc -3'
(R):5'- GCAAAGATGTTCATCATTTGCC -3'
|
Posted On |
2014-04-24 |