Incidental Mutation 'R9472:Adam18'
ID |
715521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adam18
|
Ensembl Gene |
ENSMUSG00000031552 |
Gene Name |
a disintegrin and metallopeptidase domain 18 |
Synonyms |
Dtgn3, Adam27 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9472 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
25092262-25164771 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 25127248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 449
(K449N)
|
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: K449N
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000033957 Gene: ENSMUSG00000031552 AA Change: K449N
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 |
|
SMART Domains |
Protein: ENSMUSP00000133378 Gene: ENSMUSG00000031552 AA Change: K449N
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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
G |
A |
8: 41,279,351 (GRCm39) |
V581I |
possibly damaging |
Het |
Agrn |
A |
G |
4: 156,254,841 (GRCm39) |
F1625S |
|
Het |
Aox3 |
G |
T |
1: 58,215,669 (GRCm39) |
V1034L |
possibly damaging |
Het |
Baz2a |
T |
G |
10: 127,948,624 (GRCm39) |
S302A |
probably benign |
Het |
Capn9 |
T |
C |
8: 125,325,534 (GRCm39) |
|
probably null |
Het |
Ccdc153 |
A |
T |
9: 44,154,923 (GRCm39) |
Q104L |
possibly damaging |
Het |
Cdh1 |
A |
T |
8: 107,380,248 (GRCm39) |
N168I |
probably damaging |
Het |
Crisp3 |
A |
T |
17: 40,539,676 (GRCm39) |
|
probably null |
Het |
Ctsb |
T |
C |
14: 63,379,186 (GRCm39) |
V266A |
probably damaging |
Het |
Cyp2c39 |
G |
T |
19: 39,502,043 (GRCm39) |
R144L |
probably damaging |
Het |
Elmo1 |
C |
T |
13: 20,470,897 (GRCm39) |
A263V |
probably benign |
Het |
Enkur |
T |
C |
2: 21,201,590 (GRCm39) |
R32G |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,817,285 (GRCm39) |
N4339K |
possibly damaging |
Het |
Gsn |
T |
G |
2: 35,182,741 (GRCm39) |
M268R |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,813,843 (GRCm39) |
W2659R |
probably damaging |
Het |
Hycc2 |
A |
G |
1: 58,574,641 (GRCm39) |
V300A |
possibly damaging |
Het |
Ino80e |
A |
G |
7: 126,461,127 (GRCm39) |
V40A |
unknown |
Het |
Ints2 |
T |
C |
11: 86,133,824 (GRCm39) |
T409A |
|
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kat2a |
A |
G |
11: 100,596,197 (GRCm39) |
V787A |
probably benign |
Het |
Klhl32 |
A |
G |
4: 24,629,273 (GRCm39) |
V465A |
probably benign |
Het |
Kmt2a |
C |
A |
9: 44,733,453 (GRCm39) |
R2288L |
unknown |
Het |
Megf6 |
G |
A |
4: 154,333,910 (GRCm39) |
G213S |
probably damaging |
Het |
Mt2 |
T |
A |
8: 94,899,999 (GRCm39) |
C44S |
probably damaging |
Het |
Nfe2l1 |
A |
G |
11: 96,710,159 (GRCm39) |
V690A |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,894,495 (GRCm39) |
H6670R |
|
Het |
Or4c111 |
A |
C |
2: 88,843,517 (GRCm39) |
I297S |
possibly damaging |
Het |
Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
Pcdhb17 |
C |
A |
18: 37,618,919 (GRCm39) |
N236K |
probably damaging |
Het |
Phlpp1 |
T |
C |
1: 106,308,079 (GRCm39) |
S1119P |
probably damaging |
Het |
Plppr3 |
T |
C |
10: 79,702,711 (GRCm39) |
D184G |
probably damaging |
Het |
Rassf6 |
A |
T |
5: 90,765,572 (GRCm39) |
Y46* |
probably null |
Het |
Rmdn2 |
T |
A |
17: 79,989,096 (GRCm39) |
I405N |
possibly damaging |
Het |
Rsbn1l |
A |
C |
5: 21,113,119 (GRCm39) |
S468A |
probably damaging |
Het |
Rslcan18 |
T |
C |
13: 67,260,296 (GRCm39) |
K34E |
probably benign |
Het |
Runx3 |
A |
G |
4: 134,898,441 (GRCm39) |
D204G |
probably damaging |
Het |
Sbf2 |
A |
G |
7: 109,970,798 (GRCm39) |
I866T |
possibly damaging |
Het |
Sgtb |
A |
C |
13: 104,247,681 (GRCm39) |
E28D |
probably benign |
Het |
Slc38a8 |
T |
A |
8: 120,227,888 (GRCm39) |
K14M |
probably damaging |
Het |
Spast |
T |
C |
17: 74,681,143 (GRCm39) |
V478A |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,719,101 (GRCm39) |
T147A |
probably damaging |
Het |
Tmem208 |
T |
C |
8: 106,055,027 (GRCm39) |
F79S |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,501,052 (GRCm39) |
I250V |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,261,128 (GRCm39) |
T1628A |
probably benign |
Het |
Vmn2r14 |
G |
T |
5: 109,367,962 (GRCm39) |
N343K |
probably benign |
Het |
Xrcc6 |
T |
A |
15: 81,913,328 (GRCm39) |
Y320* |
probably null |
Het |
Zbtb10 |
A |
C |
3: 9,343,355 (GRCm39) |
T627P |
probably benign |
Het |
Zfp532 |
A |
T |
18: 65,756,624 (GRCm39) |
K186* |
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 |
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 |
|
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'- AAAGAAAGCAAGCAGTACCTTTTCC -3'
(R):5'- ATCTGGGAGAGTTGCCCTTCTC -3'
Sequencing Primer
(F):5'- GCAGTACCTTTTCCAAATAAACTGAC -3'
(R):5'- AGGATCCCAGCAGGTGTTTTAC -3'
|
Posted On |
2022-06-15 |