Incidental Mutation 'R6350:Adam32'
| ID |
514154 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
25326156-25438820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25353445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 715
(K715E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119720]
[ENSMUST00000121438]
[ENSMUST00000173069]
[ENSMUST00000173559]
|
| AlphaFold |
Q8K410 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119720
|
| SMART Domains |
Protein: ENSMUSP00000113076
Gene: ENSMUSG00000037437
| 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 |
possibly damaging
Transcript: ENSMUST00000121438
AA Change: K715E
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113627
Gene: ENSMUSG00000037437
AA Change: K715E
| 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 |
noncoding transcript
Transcript: ENSMUST00000156719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173069
|
| SMART Domains |
Protein: ENSMUSP00000133631
Gene: ENSMUSG00000037437
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ACR
|
1 |
46 |
7e-25 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173559
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,764 (GRCm39) |
K554E |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,449,156 (GRCm39) |
M609V |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,367,256 (GRCm39) |
T30A |
probably benign |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,068 (GRCm39) |
L245P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,147,579 (GRCm39) |
V926A |
probably damaging |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,278 (GRCm39) |
H138Q |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,415 (GRCm39) |
L35P |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,265,406 (GRCm39) |
V490E |
probably damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
| Kcnmb1 |
A |
G |
11: 33,914,711 (GRCm39) |
K4R |
probably damaging |
Het |
| Larp1 |
T |
A |
11: 57,940,657 (GRCm39) |
D594E |
probably benign |
Het |
| Lnpep |
G |
T |
17: 17,783,071 (GRCm39) |
H577N |
probably benign |
Het |
| Mief1 |
T |
C |
15: 80,133,804 (GRCm39) |
I287T |
probably damaging |
Het |
| Mras |
T |
C |
9: 99,293,560 (GRCm39) |
S27G |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,470,680 (GRCm39) |
C1043S |
probably benign |
Het |
| N4bp1 |
T |
C |
8: 87,588,596 (GRCm39) |
D114G |
probably damaging |
Het |
| Nsmce4a |
A |
T |
7: 130,140,829 (GRCm39) |
I219K |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,105,533 (GRCm39) |
I848F |
probably benign |
Het |
| Or2p2 |
T |
C |
13: 21,256,775 (GRCm39) |
E232G |
probably benign |
Het |
| Or4f62 |
T |
A |
2: 111,986,542 (GRCm39) |
I82N |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,293,855 (GRCm39) |
S36T |
probably benign |
Het |
| Pcdhb15 |
G |
A |
18: 37,608,414 (GRCm39) |
V549M |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,357,631 (GRCm39) |
|
probably null |
Het |
| Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,382,512 (GRCm39) |
L451P |
probably damaging |
Het |
| Repin1 |
A |
G |
6: 48,574,562 (GRCm39) |
D497G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,776,282 (GRCm39) |
F1085S |
probably damaging |
Het |
| Slc6a18 |
G |
A |
13: 73,826,044 (GRCm39) |
A2V |
possibly damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably damaging |
Het |
| Zmynd15 |
T |
C |
11: 70,355,257 (GRCm39) |
V388A |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGAAATGCTGATATAGTGCC -3'
(R):5'- TCCATGTTACTTAATTGACAAGGGG -3'
Sequencing Primer
(F):5'- CTGATATAGTGCCCAAAGTCTTAGGG -3'
(R):5'- GGGGGACGACCAAAAGAAATC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation