Incidental Mutation 'IGL03401:Adam12'
ID |
421419 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adam12
|
Ensembl Gene |
ENSMUSG00000054555 |
Gene Name |
ADAM metallopeptidase domain 12 |
Synonyms |
Mltna, ADAM12 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.386)
|
Stock # |
IGL03401
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
133484928-133826826 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 133518192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 327
(N327K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067680]
[ENSMUST00000138363]
|
AlphaFold |
Q61824 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067680
AA Change: N649K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065213 Gene: ENSMUSG00000054555 AA Change: N649K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
35 |
165 |
1.1e-27 |
PFAM |
Pfam:Reprolysin_5
|
210 |
392 |
2.1e-24 |
PFAM |
Pfam:Reprolysin_4
|
210 |
408 |
3.8e-16 |
PFAM |
Pfam:Reprolysin
|
212 |
414 |
1.4e-74 |
PFAM |
Pfam:Reprolysin_2
|
232 |
404 |
6e-18 |
PFAM |
Pfam:Reprolysin_3
|
236 |
359 |
1.3e-16 |
PFAM |
DISIN
|
431 |
506 |
4.29e-42 |
SMART |
ACR
|
507 |
650 |
1.75e-67 |
SMART |
transmembrane domain
|
705 |
727 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138363
AA Change: N327K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114874 Gene: ENSMUSG00000054555 AA Change: N327K
Domain | Start | End | E-Value | Type |
Pfam:Reprolysin
|
4 |
92 |
4.5e-24 |
PFAM |
Pfam:Reprolysin_2
|
6 |
82 |
2.1e-11 |
PFAM |
Pfam:Reprolysin_5
|
9 |
70 |
2.8e-11 |
PFAM |
Pfam:Reprolysin_4
|
11 |
87 |
8.9e-8 |
PFAM |
DISIN
|
109 |
184 |
4.29e-42 |
SMART |
ACR
|
185 |
328 |
1.75e-67 |
SMART |
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein that localizes to the cell surface. About a third of the mice lacking the encoded protein die before weaning. Overexpression of the encoded protein in a mouse model of Duchenne muscular dystrophy alleviates the muscle pathology by preventing cell necrosis and inflammation. [provided by RefSeq, May 2016] PHENOTYPE: Homozygous null mice display partial postnatal lethality, decreased brown fat, and impaired formation of neck and interscapular muscles. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,384,223 (GRCm39) |
R581* |
probably null |
Het |
Actn1 |
A |
T |
12: 80,215,741 (GRCm39) |
L799* |
probably null |
Het |
Adamts9 |
A |
G |
6: 92,763,849 (GRCm39) |
V1314A |
probably damaging |
Het |
Agbl4 |
G |
T |
4: 110,976,216 (GRCm39) |
R191L |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,847,786 (GRCm39) |
I611T |
probably damaging |
Het |
Arhgef26 |
T |
A |
3: 62,330,953 (GRCm39) |
S556T |
possibly damaging |
Het |
AW209491 |
A |
G |
13: 14,812,041 (GRCm39) |
D298G |
probably benign |
Het |
Cc2d1a |
A |
G |
8: 84,861,258 (GRCm39) |
M763T |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,336,127 (GRCm39) |
D388G |
probably benign |
Het |
Cept1 |
T |
C |
3: 106,440,706 (GRCm39) |
E151G |
probably damaging |
Het |
Chat |
T |
C |
14: 32,174,526 (GRCm39) |
K139E |
probably damaging |
Het |
Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
Enpep |
T |
A |
3: 129,106,269 (GRCm39) |
Q319L |
probably benign |
Het |
F13a1 |
A |
G |
13: 37,082,054 (GRCm39) |
I550T |
probably benign |
Het |
Fbxw19 |
A |
G |
9: 109,324,038 (GRCm39) |
|
probably null |
Het |
Frem3 |
T |
G |
8: 81,341,170 (GRCm39) |
D1154E |
probably damaging |
Het |
Frmpd1 |
G |
T |
4: 45,284,383 (GRCm39) |
C1068F |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,820,814 (GRCm39) |
P5516T |
probably benign |
Het |
Hyou1 |
G |
A |
9: 44,296,206 (GRCm39) |
A429T |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,000,790 (GRCm39) |
E2145K |
probably benign |
Het |
Map1b |
A |
T |
13: 99,563,776 (GRCm39) |
V2397D |
unknown |
Het |
Mcm3ap |
T |
C |
10: 76,320,483 (GRCm39) |
|
probably benign |
Het |
Mgst2 |
T |
G |
3: 51,571,933 (GRCm39) |
S20R |
possibly damaging |
Het |
Nr4a3 |
T |
A |
4: 48,070,987 (GRCm39) |
|
probably null |
Het |
Nup93 |
T |
A |
8: 95,036,339 (GRCm39) |
|
probably null |
Het |
Or1e1f |
T |
C |
11: 73,856,388 (GRCm39) |
|
probably benign |
Het |
Papola |
A |
T |
12: 105,795,381 (GRCm39) |
T611S |
probably benign |
Het |
Pik3ca |
C |
A |
3: 32,491,963 (GRCm39) |
|
probably null |
Het |
Pklr |
T |
C |
3: 89,050,036 (GRCm39) |
V337A |
probably benign |
Het |
Prl7b1 |
A |
G |
13: 27,785,964 (GRCm39) |
Y235H |
probably benign |
Het |
Proc |
T |
C |
18: 32,256,326 (GRCm39) |
Y447C |
possibly damaging |
Het |
Pum1 |
T |
C |
4: 130,470,992 (GRCm39) |
|
probably benign |
Het |
Rimklb |
A |
T |
6: 122,441,077 (GRCm39) |
I32N |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,114,951 (GRCm39) |
D644E |
possibly damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Shbg |
A |
G |
11: 69,505,925 (GRCm39) |
S361P |
probably damaging |
Het |
Trmt9b |
A |
C |
8: 36,972,823 (GRCm39) |
D91A |
probably damaging |
Het |
Zfp647 |
T |
A |
15: 76,795,568 (GRCm39) |
H364L |
probably damaging |
Het |
Zfp715 |
A |
T |
7: 42,949,160 (GRCm39) |
S267T |
probably benign |
Het |
|
Other mutations in Adam12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00474:Adam12
|
APN |
7 |
133,511,610 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL01403:Adam12
|
APN |
7 |
133,521,339 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01482:Adam12
|
APN |
7 |
133,569,577 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01922:Adam12
|
APN |
7 |
133,539,201 (GRCm39) |
nonsense |
probably null |
|
IGL02397:Adam12
|
APN |
7 |
133,511,548 (GRCm39) |
splice site |
probably benign |
|
R0122:Adam12
|
UTSW |
7 |
133,614,077 (GRCm39) |
missense |
probably benign |
0.45 |
R0200:Adam12
|
UTSW |
7 |
133,576,145 (GRCm39) |
splice site |
probably null |
|
R0463:Adam12
|
UTSW |
7 |
133,576,145 (GRCm39) |
splice site |
probably null |
|
R0927:Adam12
|
UTSW |
7 |
133,599,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R1258:Adam12
|
UTSW |
7 |
133,539,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Adam12
|
UTSW |
7 |
133,533,543 (GRCm39) |
missense |
probably benign |
0.03 |
R1483:Adam12
|
UTSW |
7 |
133,531,754 (GRCm39) |
missense |
probably benign |
0.41 |
R1692:Adam12
|
UTSW |
7 |
133,489,673 (GRCm39) |
makesense |
probably null |
|
R1797:Adam12
|
UTSW |
7 |
133,569,590 (GRCm39) |
missense |
probably benign |
0.03 |
R2134:Adam12
|
UTSW |
7 |
133,614,017 (GRCm39) |
nonsense |
probably null |
|
R2230:Adam12
|
UTSW |
7 |
133,521,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R2350:Adam12
|
UTSW |
7 |
133,521,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R2944:Adam12
|
UTSW |
7 |
133,577,236 (GRCm39) |
missense |
probably null |
0.02 |
R3688:Adam12
|
UTSW |
7 |
133,566,525 (GRCm39) |
nonsense |
probably null |
|
R3747:Adam12
|
UTSW |
7 |
133,774,594 (GRCm39) |
missense |
probably damaging |
0.96 |
R3749:Adam12
|
UTSW |
7 |
133,774,594 (GRCm39) |
missense |
probably damaging |
0.96 |
R3750:Adam12
|
UTSW |
7 |
133,774,594 (GRCm39) |
missense |
probably damaging |
0.96 |
R4028:Adam12
|
UTSW |
7 |
133,531,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R4130:Adam12
|
UTSW |
7 |
133,514,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R4131:Adam12
|
UTSW |
7 |
133,514,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R4346:Adam12
|
UTSW |
7 |
133,583,264 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4701:Adam12
|
UTSW |
7 |
133,518,191 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4887:Adam12
|
UTSW |
7 |
133,774,550 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5355:Adam12
|
UTSW |
7 |
133,489,671 (GRCm39) |
makesense |
probably null |
|
R5468:Adam12
|
UTSW |
7 |
133,577,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5486:Adam12
|
UTSW |
7 |
133,509,401 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5990:Adam12
|
UTSW |
7 |
133,533,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R6504:Adam12
|
UTSW |
7 |
133,531,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R6783:Adam12
|
UTSW |
7 |
133,576,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R7117:Adam12
|
UTSW |
7 |
133,518,191 (GRCm39) |
missense |
probably benign |
0.00 |
R7263:Adam12
|
UTSW |
7 |
133,521,240 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7749:Adam12
|
UTSW |
7 |
133,826,542 (GRCm39) |
missense |
unknown |
|
R7820:Adam12
|
UTSW |
7 |
133,599,917 (GRCm39) |
missense |
probably benign |
0.00 |
R7880:Adam12
|
UTSW |
7 |
133,511,691 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7891:Adam12
|
UTSW |
7 |
133,599,961 (GRCm39) |
missense |
probably benign |
0.00 |
R8114:Adam12
|
UTSW |
7 |
133,569,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R8160:Adam12
|
UTSW |
7 |
133,569,770 (GRCm39) |
splice site |
probably null |
|
R8683:Adam12
|
UTSW |
7 |
133,491,929 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9236:Adam12
|
UTSW |
7 |
133,614,022 (GRCm39) |
missense |
probably benign |
0.03 |
R9277:Adam12
|
UTSW |
7 |
133,521,561 (GRCm39) |
missense |
probably benign |
0.00 |
R9480:Adam12
|
UTSW |
7 |
133,736,470 (GRCm39) |
missense |
probably damaging |
0.98 |
R9515:Adam12
|
UTSW |
7 |
133,509,373 (GRCm39) |
missense |
probably benign |
0.03 |
R9599:Adam12
|
UTSW |
7 |
133,566,454 (GRCm39) |
missense |
probably damaging |
0.99 |
X0057:Adam12
|
UTSW |
7 |
133,614,044 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |