Incidental Mutation 'IGL02929:Adam32'
ID |
364003 |
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 # |
IGL02929
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
25326156-25438820 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 25362659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 13
(V13L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133631
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119720]
[ENSMUST00000121438]
[ENSMUST00000173069]
|
AlphaFold |
Q8K410 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000119720
AA Change: V589L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000113076 Gene: ENSMUSG00000037437 AA Change: V589L
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 benign
Transcript: ENSMUST00000121438
AA Change: V589L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000113627 Gene: ENSMUSG00000037437 AA Change: V589L
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 |
possibly damaging
Transcript: ENSMUST00000173069
AA Change: V13L
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133631 Gene: ENSMUSG00000037437 AA Change: V13L
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330070K13Rik |
A |
G |
5: 130,413,252 (GRCm39) |
|
probably null |
Het |
Abcb5 |
T |
C |
12: 118,908,674 (GRCm39) |
Y90C |
probably damaging |
Het |
Accs |
T |
C |
2: 93,674,566 (GRCm39) |
D112G |
probably damaging |
Het |
Adgrb3 |
A |
G |
1: 25,592,905 (GRCm39) |
V294A |
probably benign |
Het |
Agt |
G |
T |
8: 125,283,829 (GRCm39) |
A430E |
probably benign |
Het |
Agxt2 |
T |
C |
15: 10,388,379 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
A |
T |
7: 126,056,116 (GRCm39) |
I235N |
probably damaging |
Het |
Atp8b1 |
T |
C |
18: 64,694,733 (GRCm39) |
I516M |
possibly damaging |
Het |
Atrx |
T |
C |
X: 104,923,512 (GRCm39) |
|
probably null |
Het |
Brcc3 |
T |
C |
X: 74,479,105 (GRCm39) |
V117A |
possibly damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,624,105 (GRCm39) |
|
probably benign |
Het |
Ceacam3 |
T |
A |
7: 16,892,115 (GRCm39) |
V286D |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,329,630 (GRCm39) |
D32G |
probably benign |
Het |
Cpsf1 |
C |
A |
15: 76,486,327 (GRCm39) |
|
probably null |
Het |
Dnai4 |
C |
T |
4: 102,917,188 (GRCm39) |
W552* |
probably null |
Het |
Dock2 |
A |
T |
11: 34,218,048 (GRCm39) |
V1174E |
probably damaging |
Het |
Dqx1 |
A |
G |
6: 83,037,465 (GRCm39) |
|
probably benign |
Het |
Ercc1 |
T |
C |
7: 19,089,288 (GRCm39) |
|
probably null |
Het |
Fn1 |
A |
G |
1: 71,634,821 (GRCm39) |
|
probably null |
Het |
Garre1 |
A |
T |
7: 33,944,507 (GRCm39) |
M75K |
possibly damaging |
Het |
Ice1 |
A |
G |
13: 70,744,322 (GRCm39) |
L2087P |
probably damaging |
Het |
Ift122 |
A |
G |
6: 115,879,838 (GRCm39) |
D612G |
probably damaging |
Het |
Igkv6-25 |
A |
G |
6: 70,192,929 (GRCm39) |
Y112C |
probably damaging |
Het |
Kit |
C |
A |
5: 75,801,429 (GRCm39) |
P572Q |
probably damaging |
Het |
Kras |
A |
G |
6: 145,177,815 (GRCm39) |
|
probably benign |
Het |
Ltv1 |
T |
C |
10: 13,067,970 (GRCm39) |
K6R |
possibly damaging |
Het |
Man1a |
C |
T |
10: 53,801,531 (GRCm39) |
V443I |
probably benign |
Het |
Mat2b |
A |
C |
11: 40,575,540 (GRCm39) |
D154E |
probably benign |
Het |
Mtrf1 |
A |
G |
14: 79,640,273 (GRCm39) |
K143E |
probably benign |
Het |
Myh13 |
A |
C |
11: 67,257,991 (GRCm39) |
I95L |
probably damaging |
Het |
Myo7b |
A |
T |
18: 32,127,978 (GRCm39) |
D571E |
probably benign |
Het |
Nek10 |
T |
A |
14: 14,821,119 (GRCm38) |
D28E |
possibly damaging |
Het |
Npm2 |
T |
A |
14: 70,889,678 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Plcb2 |
G |
A |
2: 118,543,715 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
A |
G |
6: 14,719,810 (GRCm39) |
M368T |
probably benign |
Het |
Rnf123 |
G |
T |
9: 107,946,275 (GRCm39) |
T300K |
probably benign |
Het |
Sbspon |
A |
G |
1: 15,954,069 (GRCm39) |
|
probably benign |
Het |
Slc52a2 |
G |
A |
15: 76,424,776 (GRCm39) |
C338Y |
probably benign |
Het |
Tdrd6 |
T |
A |
17: 43,940,604 (GRCm39) |
Q148L |
possibly damaging |
Het |
Tle5 |
T |
A |
10: 81,400,672 (GRCm39) |
|
probably null |
Het |
Trpc3 |
T |
A |
3: 36,692,623 (GRCm39) |
K790* |
probably null |
Het |
Ushbp1 |
C |
T |
8: 71,847,120 (GRCm39) |
A171T |
probably damaging |
Het |
Usp32 |
T |
C |
11: 84,879,198 (GRCm39) |
T1504A |
probably benign |
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 |
|
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 |
|
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 |
2015-12-18 |