Incidental Mutation 'IGL01501:Adam32'
ID |
88920 |
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 # |
IGL01501
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
25326156-25438820 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25404369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 212
(N212I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119720]
[ENSMUST00000121438]
|
AlphaFold |
Q8K410 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119720
AA Change: N212I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113076 Gene: ENSMUSG00000037437 AA Change: N212I
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: N212I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113627 Gene: ENSMUSG00000037437 AA Change: N212I
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: ENSMUST00000174059
|
SMART Domains |
Protein: ENSMUSP00000134680 Gene: ENSMUSG00000037437
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
19 |
141 |
4.6e-27 |
PFAM |
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
T |
G |
17: 56,109,002 (GRCm39) |
|
probably benign |
Het |
Amer3 |
G |
A |
1: 34,627,398 (GRCm39) |
V546M |
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,476,308 (GRCm39) |
S1504P |
possibly damaging |
Het |
D630003M21Rik |
G |
A |
2: 158,042,987 (GRCm39) |
A851V |
probably benign |
Het |
Ddhd2 |
A |
T |
8: 26,225,857 (GRCm39) |
M500K |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,146,370 (GRCm39) |
S191P |
probably benign |
Het |
Gabrg3 |
T |
C |
7: 56,374,214 (GRCm39) |
T451A |
probably damaging |
Het |
Gzme |
T |
A |
14: 56,356,858 (GRCm39) |
M35L |
probably damaging |
Het |
Il6st |
A |
G |
13: 112,616,593 (GRCm39) |
I47V |
probably benign |
Het |
Klk1b11 |
A |
T |
7: 43,649,258 (GRCm39) |
|
probably benign |
Het |
Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
Or4f14b |
A |
G |
2: 111,774,863 (GRCm39) |
*313Q |
probably null |
Het |
Or5i1 |
T |
A |
2: 87,613,480 (GRCm39) |
W199R |
possibly damaging |
Het |
Ptprz1 |
A |
T |
6: 22,973,081 (GRCm39) |
N283I |
probably damaging |
Het |
Slc25a33 |
T |
C |
4: 149,840,615 (GRCm39) |
|
probably benign |
Het |
Snap91 |
T |
C |
9: 86,720,178 (GRCm39) |
M120V |
probably damaging |
Het |
Tbc1d8 |
G |
A |
1: 39,428,416 (GRCm39) |
R510C |
probably damaging |
Het |
Thoc1 |
T |
C |
18: 9,986,321 (GRCm39) |
L351P |
possibly damaging |
Het |
Tmco5b |
A |
G |
2: 113,121,726 (GRCm39) |
K180R |
probably null |
Het |
Zfp553 |
G |
T |
7: 126,835,387 (GRCm39) |
S314I |
probably damaging |
Het |
Zgrf1 |
G |
A |
3: 127,396,211 (GRCm39) |
|
probably null |
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 |
IGL01659:Adam32
|
APN |
8 |
25,360,790 (GRCm39) |
splice site |
probably benign |
|
IGL01994:Adam32
|
APN |
8 |
25,392,812 (GRCm39) |
splice site |
probably benign |
|
IGL02137:Adam32
|
APN |
8 |
25,362,610 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-12-03 |