Incidental Mutation 'IGL02137:Adam32'
| ID |
281350 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam32
|
| Ensembl Gene |
ENSMUSG00000037437 |
| Gene Name |
a disintegrin and metallopeptidase domain 32 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
25326156-25438820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25362610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 605
(G605D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119720]
[ENSMUST00000121438]
[ENSMUST00000173069]
|
| AlphaFold |
Q8K410 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119720
AA Change: G605D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437
AA Change: G605D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
32 |
145 |
4.5e-32 |
PFAM |
|
Pfam:Reprolysin
|
187 |
384 |
4.1e-66 |
PFAM |
|
Pfam:Reprolysin_3
|
211 |
318 |
6.2e-7 |
PFAM |
|
DISIN
|
400 |
481 |
2.69e-16 |
SMART |
|
ACR
|
482 |
622 |
6.83e-38 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121438
AA Change: G605D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: G605D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
24 |
145 |
8.4e-26 |
PFAM |
|
Pfam:Reprolysin
|
187 |
384 |
1.3e-68 |
PFAM |
|
DISIN
|
400 |
481 |
2.69e-16 |
SMART |
|
ACR
|
482 |
622 |
6.83e-38 |
SMART |
|
EGF
|
631 |
660 |
1.73e0 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
754 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140573
|
| SMART Domains |
Protein: ENSMUSP00000133843
Gene: ENSMUSG00000037437
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DISIN
|
2 |
22 |
5e-7 |
BLAST |
|
Pfam:ADAM_CR
|
24 |
71 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173069
AA Change: G29D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133631
Gene: ENSMUSG00000037437
AA Change: G29D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ACR
|
1 |
46 |
7e-25 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an metalloprotease, disintegrin and epidermal growth factor-like domains. This gene was found to be expressed predominantly in the pachytene spermatocytes, where the processed protein is localized to the sperm surface. This gene is located in a cluster of other disintegrin and metallopeptidase family genes on chromosome 8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
T |
C |
X: 80,501,262 (GRCm39) |
D116G |
probably benign |
Het |
| Acp2 |
G |
T |
2: 91,034,028 (GRCm39) |
G66V |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,467,877 (GRCm39) |
D248G |
possibly damaging |
Het |
| Adamts15 |
C |
A |
9: 30,821,956 (GRCm39) |
G494W |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,283,338 (GRCm39) |
N190K |
probably damaging |
Het |
| Bach2 |
C |
T |
4: 32,501,621 (GRCm39) |
|
probably benign |
Het |
| Bloc1s1 |
T |
C |
10: 128,758,517 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
G |
T |
4: 149,017,925 (GRCm39) |
A405S |
possibly damaging |
Het |
| Cplx4 |
T |
C |
18: 66,090,125 (GRCm39) |
D98G |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,134,349 (GRCm39) |
N1553D |
probably benign |
Het |
| Erich5 |
G |
A |
15: 34,470,900 (GRCm39) |
C43Y |
probably damaging |
Het |
| Exosc10 |
A |
C |
4: 148,645,590 (GRCm39) |
R123S |
probably damaging |
Het |
| Hoatz |
T |
C |
9: 50,997,408 (GRCm39) |
|
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,853 (GRCm39) |
V377A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,620,700 (GRCm39) |
|
probably benign |
Het |
| Mrps17 |
G |
A |
5: 129,793,847 (GRCm39) |
V14M |
probably benign |
Het |
| Mtrr |
G |
A |
13: 68,716,920 (GRCm39) |
S431F |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,068,817 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
T |
A |
2: 151,351,509 (GRCm39) |
I291N |
probably damaging |
Het |
| Ntsr1 |
T |
A |
2: 180,180,628 (GRCm39) |
|
probably null |
Het |
| Or4n4 |
T |
C |
14: 50,519,135 (GRCm39) |
T192A |
probably benign |
Het |
| Park7 |
T |
C |
4: 150,988,288 (GRCm39) |
I102M |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,950,039 (GRCm39) |
Q1326L |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,648,025 (GRCm39) |
D693G |
probably benign |
Het |
| Rep15 |
G |
A |
6: 146,934,845 (GRCm39) |
R228H |
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,745,234 (GRCm39) |
V100A |
probably benign |
Het |
| Slc9a4 |
T |
C |
1: 40,640,059 (GRCm39) |
F284L |
possibly damaging |
Het |
| Sox10 |
G |
T |
15: 79,043,393 (GRCm39) |
D52E |
probably benign |
Het |
| St3gal5 |
C |
A |
6: 72,105,266 (GRCm39) |
T6N |
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,183,870 (GRCm39) |
D243G |
probably benign |
Het |
| Tll1 |
T |
C |
8: 64,469,132 (GRCm39) |
Y997C |
possibly damaging |
Het |
| Tmem8b |
A |
T |
4: 43,689,434 (GRCm39) |
H276L |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,609,450 (GRCm39) |
Y12C |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
| Trav18 |
T |
A |
14: 54,069,192 (GRCm39) |
M78K |
probably benign |
Het |
| Uba7 |
A |
G |
9: 107,856,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,864 (GRCm39) |
S51T |
probably damaging |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,761 (GRCm39) |
Y99N |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
|
| Other mutations in Adam32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00775:Adam32
|
APN |
8 |
25,411,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00793:Adam32
|
APN |
8 |
25,327,846 (GRCm39) |
splice site |
probably benign |
|
|
IGL01317:Adam32
|
APN |
8 |
25,362,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01475:Adam32
|
APN |
8 |
25,362,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01501:Adam32
|
APN |
8 |
25,404,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01659:Adam32
|
APN |
8 |
25,360,790 (GRCm39) |
splice site |
probably benign |
|
|
IGL01994:Adam32
|
APN |
8 |
25,392,812 (GRCm39) |
splice site |
probably benign |
|
|
IGL02393:Adam32
|
APN |
8 |
25,410,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Adam32
|
APN |
8 |
25,388,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Adam32
|
APN |
8 |
25,368,727 (GRCm39) |
intron |
probably benign |
|
|
IGL02929:Adam32
|
APN |
8 |
25,362,659 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03273:Adam32
|
APN |
8 |
25,411,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Adam32
|
UTSW |
8 |
25,404,342 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0088:Adam32
|
UTSW |
8 |
25,404,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Adam32
|
UTSW |
8 |
25,404,405 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0098:Adam32
|
UTSW |
8 |
25,404,405 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0189:Adam32
|
UTSW |
8 |
25,412,353 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1740:Adam32
|
UTSW |
8 |
25,411,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Adam32
|
UTSW |
8 |
25,388,642 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2090:Adam32
|
UTSW |
8 |
25,391,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2906:Adam32
|
UTSW |
8 |
25,353,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:Adam32
|
UTSW |
8 |
25,353,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4304:Adam32
|
UTSW |
8 |
25,391,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Adam32
|
UTSW |
8 |
25,362,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4673:Adam32
|
UTSW |
8 |
25,374,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Adam32
|
UTSW |
8 |
25,353,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Adam32
|
UTSW |
8 |
25,354,467 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5398:Adam32
|
UTSW |
8 |
25,362,595 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5524:Adam32
|
UTSW |
8 |
25,412,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5939:Adam32
|
UTSW |
8 |
25,404,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6350:Adam32
|
UTSW |
8 |
25,353,445 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6766:Adam32
|
UTSW |
8 |
25,362,646 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6893:Adam32
|
UTSW |
8 |
25,368,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Adam32
|
UTSW |
8 |
25,404,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Adam32
|
UTSW |
8 |
25,388,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7457:Adam32
|
UTSW |
8 |
25,374,635 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7864:Adam32
|
UTSW |
8 |
25,412,292 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8083:Adam32
|
UTSW |
8 |
25,362,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Adam32
|
UTSW |
8 |
25,391,486 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8376:Adam32
|
UTSW |
8 |
25,409,936 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8681:Adam32
|
UTSW |
8 |
25,327,811 (GRCm39) |
missense |
unknown |
|
|
R9154:Adam32
|
UTSW |
8 |
25,438,769 (GRCm39) |
small deletion |
probably benign |
|
|
R9391:Adam32
|
UTSW |
8 |
25,374,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Adam32
|
UTSW |
8 |
25,438,766 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation