Incidental Mutation 'IGL01510:Adam5'
ID |
89181 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adam5
|
Ensembl Gene |
ENSMUSG00000031554 |
Gene Name |
a disintegrin and metallopeptidase domain 5 |
Synonyms |
tMDCII |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
IGL01510
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
25217109-25314385 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25294481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 373
(C373S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050300]
[ENSMUST00000118419]
[ENSMUST00000209935]
|
AlphaFold |
Q3TTE0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050300
AA Change: C373S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052661 Gene: ENSMUSG00000031554 AA Change: C373S
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
16 |
142 |
1.6e-19 |
PFAM |
Pfam:Reprolysin
|
185 |
378 |
7.7e-59 |
PFAM |
DISIN
|
397 |
474 |
9.1e-42 |
SMART |
ACR
|
475 |
618 |
6.9e-58 |
SMART |
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
low complexity region
|
718 |
751 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118419
AA Change: C373S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112422 Gene: ENSMUSG00000031554 AA Change: C373S
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
16 |
142 |
4.7e-30 |
PFAM |
Pfam:Reprolysin
|
185 |
378 |
7.9e-56 |
PFAM |
DISIN
|
397 |
474 |
1.78e-39 |
SMART |
ACR
|
475 |
618 |
2.06e-55 |
SMART |
transmembrane domain
|
695 |
712 |
N/A |
INTRINSIC |
low complexity region
|
718 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130939
|
Predicted Effect |
unknown
Transcript: ENSMUST00000132180
AA Change: C290S
|
SMART Domains |
Protein: ENSMUSP00000121272 Gene: ENSMUSG00000031554 AA Change: C290S
Domain | Start | End | E-Value | Type |
Pfam:Pep_M12B_propep
|
1 |
60 |
6.7e-14 |
PFAM |
Pfam:Reprolysin
|
103 |
296 |
2.5e-61 |
PFAM |
DISIN
|
315 |
392 |
1.78e-39 |
SMART |
ACR
|
393 |
536 |
2.06e-55 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209935
AA Change: C373S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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. This gene is located in a cluster of related ADAM genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,143,979 (GRCm39) |
Q6R |
probably damaging |
Het |
Adgre4 |
T |
C |
17: 56,125,760 (GRCm39) |
|
probably null |
Het |
Akap10 |
A |
T |
11: 61,768,846 (GRCm39) |
M614K |
possibly damaging |
Het |
Amigo2 |
T |
C |
15: 97,142,962 (GRCm39) |
T487A |
probably benign |
Het |
Asap1 |
T |
C |
15: 64,030,777 (GRCm39) |
D300G |
probably damaging |
Het |
Atp4a |
C |
A |
7: 30,420,216 (GRCm39) |
L788M |
probably benign |
Het |
Bcl3 |
T |
A |
7: 19,543,539 (GRCm39) |
H309L |
probably damaging |
Het |
Cblc |
T |
C |
7: 19,519,200 (GRCm39) |
N376S |
probably benign |
Het |
Cd200r2 |
A |
T |
16: 44,729,674 (GRCm39) |
I110L |
probably benign |
Het |
Ceacam3 |
T |
C |
7: 16,893,767 (GRCm39) |
M426T |
probably benign |
Het |
Cep295 |
G |
A |
9: 15,265,922 (GRCm39) |
R29* |
probably null |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Ctps1 |
G |
T |
4: 120,416,041 (GRCm39) |
T194K |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,260,396 (GRCm39) |
S318P |
probably damaging |
Het |
Fasl |
A |
T |
1: 161,609,522 (GRCm39) |
S155T |
possibly damaging |
Het |
Gldc |
C |
T |
19: 30,091,121 (GRCm39) |
|
probably null |
Het |
Gpr21 |
T |
A |
2: 37,408,433 (GRCm39) |
C326* |
probably null |
Het |
Gtf2a1 |
A |
G |
12: 91,534,607 (GRCm39) |
S216P |
probably benign |
Het |
Hoxb5 |
A |
T |
11: 96,194,818 (GRCm39) |
S127C |
possibly damaging |
Het |
Htt |
A |
T |
5: 35,064,856 (GRCm39) |
Q3023L |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,055,700 (GRCm39) |
H855L |
possibly damaging |
Het |
Lars1 |
T |
C |
18: 42,375,174 (GRCm39) |
I289V |
probably benign |
Het |
Lrig3 |
C |
A |
10: 125,844,567 (GRCm39) |
T677K |
probably damaging |
Het |
Mapk7 |
A |
T |
11: 61,381,986 (GRCm39) |
W309R |
probably damaging |
Het |
Mmp12 |
A |
G |
9: 7,358,307 (GRCm39) |
T468A |
possibly damaging |
Het |
Muc5b |
A |
T |
7: 141,412,798 (GRCm39) |
N1915Y |
unknown |
Het |
Naprt |
A |
G |
15: 75,762,837 (GRCm39) |
|
probably benign |
Het |
Nfatc1 |
T |
C |
18: 80,741,403 (GRCm39) |
Y199C |
probably damaging |
Het |
Or7e166 |
A |
T |
9: 19,624,575 (GRCm39) |
I151F |
probably benign |
Het |
Or8g51 |
T |
C |
9: 38,609,201 (GRCm39) |
I158V |
probably benign |
Het |
Phip |
T |
A |
9: 82,795,924 (GRCm39) |
I566F |
probably benign |
Het |
Pnpla3 |
T |
A |
15: 84,055,273 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
C |
T |
5: 103,710,166 (GRCm39) |
T1567I |
probably damaging |
Het |
Ptpn20 |
A |
G |
14: 33,360,343 (GRCm39) |
|
probably null |
Het |
Ptprq |
G |
T |
10: 107,547,909 (GRCm39) |
T163K |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,955,794 (GRCm39) |
C415R |
probably damaging |
Het |
Slco4c1 |
A |
G |
1: 96,795,678 (GRCm39) |
S127P |
probably damaging |
Het |
Tcerg1l |
A |
T |
7: 137,996,034 (GRCm39) |
|
probably benign |
Het |
Thbd |
C |
T |
2: 148,248,894 (GRCm39) |
V325M |
probably damaging |
Het |
Trim37 |
G |
A |
11: 87,068,686 (GRCm39) |
R344H |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,703,109 (GRCm39) |
|
probably benign |
Het |
Uvrag |
G |
A |
7: 98,653,796 (GRCm39) |
Q65* |
probably null |
Het |
Wrap53 |
G |
A |
11: 69,453,566 (GRCm39) |
S342L |
possibly damaging |
Het |
Zbtb11 |
T |
G |
16: 55,810,706 (GRCm39) |
V288G |
probably damaging |
Het |
|
Other mutations in Adam5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00823:Adam5
|
APN |
8 |
25,308,758 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01285:Adam5
|
APN |
8 |
25,271,610 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01310:Adam5
|
APN |
8 |
25,232,150 (GRCm39) |
intron |
probably benign |
|
IGL01570:Adam5
|
APN |
8 |
25,300,839 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02017:Adam5
|
APN |
8 |
25,271,775 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02191:Adam5
|
APN |
8 |
25,302,439 (GRCm39) |
nonsense |
probably null |
|
IGL02397:Adam5
|
APN |
8 |
25,234,149 (GRCm39) |
intron |
probably benign |
|
IGL02488:Adam5
|
APN |
8 |
25,282,022 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02490:Adam5
|
APN |
8 |
25,271,720 (GRCm39) |
nonsense |
probably null |
|
IGL02499:Adam5
|
APN |
8 |
25,271,581 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02539:Adam5
|
APN |
8 |
25,276,229 (GRCm39) |
nonsense |
probably null |
|
IGL02590:Adam5
|
APN |
8 |
25,234,151 (GRCm39) |
intron |
probably benign |
|
IGL02677:Adam5
|
APN |
8 |
25,302,395 (GRCm39) |
splice site |
probably benign |
|
IGL02679:Adam5
|
APN |
8 |
25,296,542 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02982:Adam5
|
APN |
8 |
25,294,447 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03146:Adam5
|
APN |
8 |
25,294,519 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03162:Adam5
|
APN |
8 |
25,271,620 (GRCm39) |
missense |
probably benign |
0.30 |
IGL03284:Adam5
|
APN |
8 |
25,276,354 (GRCm39) |
splice site |
probably benign |
|
R0081:Adam5
|
UTSW |
8 |
25,271,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R0377:Adam5
|
UTSW |
8 |
25,237,557 (GRCm39) |
missense |
probably benign |
0.08 |
R0398:Adam5
|
UTSW |
8 |
25,303,448 (GRCm39) |
missense |
probably benign |
0.17 |
R0771:Adam5
|
UTSW |
8 |
25,276,315 (GRCm39) |
missense |
probably benign |
0.04 |
R0925:Adam5
|
UTSW |
8 |
25,302,441 (GRCm39) |
missense |
probably benign |
0.09 |
R1547:Adam5
|
UTSW |
8 |
25,300,729 (GRCm39) |
missense |
probably benign |
0.10 |
R1985:Adam5
|
UTSW |
8 |
25,236,755 (GRCm39) |
missense |
probably benign |
0.01 |
R2115:Adam5
|
UTSW |
8 |
25,234,161 (GRCm39) |
intron |
probably benign |
|
R2125:Adam5
|
UTSW |
8 |
25,305,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Adam5
|
UTSW |
8 |
25,305,496 (GRCm39) |
missense |
probably benign |
0.14 |
R3151:Adam5
|
UTSW |
8 |
25,271,647 (GRCm39) |
missense |
probably damaging |
0.99 |
R3612:Adam5
|
UTSW |
8 |
25,308,105 (GRCm39) |
splice site |
probably benign |
|
R3844:Adam5
|
UTSW |
8 |
25,303,426 (GRCm39) |
missense |
probably benign |
0.12 |
R3873:Adam5
|
UTSW |
8 |
25,305,125 (GRCm39) |
missense |
probably benign |
0.02 |
R4514:Adam5
|
UTSW |
8 |
25,308,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R4843:Adam5
|
UTSW |
8 |
25,303,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R4866:Adam5
|
UTSW |
8 |
25,271,619 (GRCm39) |
missense |
probably damaging |
0.98 |
R4866:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
R4900:Adam5
|
UTSW |
8 |
25,232,172 (GRCm39) |
splice site |
probably null |
|
R4900:Adam5
|
UTSW |
8 |
25,271,619 (GRCm39) |
missense |
probably damaging |
0.98 |
R4903:Adam5
|
UTSW |
8 |
25,276,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Adam5
|
UTSW |
8 |
25,276,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Adam5
|
UTSW |
8 |
25,276,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R5259:Adam5
|
UTSW |
8 |
25,300,850 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5293:Adam5
|
UTSW |
8 |
25,300,722 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5724:Adam5
|
UTSW |
8 |
25,294,511 (GRCm39) |
nonsense |
probably null |
|
R5859:Adam5
|
UTSW |
8 |
25,303,477 (GRCm39) |
missense |
probably benign |
|
R6004:Adam5
|
UTSW |
8 |
25,271,685 (GRCm39) |
missense |
probably benign |
0.04 |
R6175:Adam5
|
UTSW |
8 |
25,276,167 (GRCm39) |
missense |
probably benign |
0.00 |
R6539:Adam5
|
UTSW |
8 |
25,272,616 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6994:Adam5
|
UTSW |
8 |
25,276,262 (GRCm39) |
nonsense |
probably null |
|
R6996:Adam5
|
UTSW |
8 |
25,296,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R7009:Adam5
|
UTSW |
8 |
25,296,454 (GRCm39) |
missense |
probably benign |
0.00 |
R7115:Adam5
|
UTSW |
8 |
25,271,712 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7127:Adam5
|
UTSW |
8 |
25,300,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Adam5
|
UTSW |
8 |
25,305,541 (GRCm39) |
missense |
probably benign |
0.45 |
R7780:Adam5
|
UTSW |
8 |
25,294,432 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8027:Adam5
|
UTSW |
8 |
25,272,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Adam5
|
UTSW |
8 |
25,303,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R8138:Adam5
|
UTSW |
8 |
25,271,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R8305:Adam5
|
UTSW |
8 |
25,300,719 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8359:Adam5
|
UTSW |
8 |
25,296,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R8480:Adam5
|
UTSW |
8 |
25,294,475 (GRCm39) |
nonsense |
probably null |
|
R8743:Adam5
|
UTSW |
8 |
25,276,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R9000:Adam5
|
UTSW |
8 |
25,294,372 (GRCm39) |
critical splice donor site |
probably null |
|
R9442:Adam5
|
UTSW |
8 |
25,296,510 (GRCm39) |
missense |
probably damaging |
0.96 |
R9474:Adam5
|
UTSW |
8 |
25,237,540 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9602:Adam5
|
UTSW |
8 |
25,303,402 (GRCm39) |
missense |
probably damaging |
0.96 |
R9748:Adam5
|
UTSW |
8 |
25,301,068 (GRCm39) |
missense |
probably benign |
0.23 |
X0019:Adam5
|
UTSW |
8 |
25,302,459 (GRCm39) |
missense |
probably benign |
0.00 |
X0022:Adam5
|
UTSW |
8 |
25,303,579 (GRCm39) |
critical splice acceptor site |
probably null |
|
X0027:Adam5
|
UTSW |
8 |
25,308,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |