Incidental Mutation 'IGL02237:Adam39'
| ID |
285924 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam39
|
| Ensembl Gene |
ENSMUSG00000054033 |
| Gene Name |
a disintegrin and metallopeptidase domain 39 |
| Synonyms |
1700056P18Rik, testase 9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL02237
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41276046-41279898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41278482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 291
(E291V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066814]
|
| AlphaFold |
Q7M762 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066814
AA Change: E291V
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: E291V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pep_M12B_propep
|
53 |
178 |
1.3e-19 |
PFAM |
|
Pfam:Reprolysin_5
|
219 |
398 |
2.2e-18 |
PFAM |
|
Pfam:Reprolysin_4
|
219 |
406 |
6.8e-16 |
PFAM |
|
Pfam:Reprolysin
|
221 |
410 |
1.3e-43 |
PFAM |
|
Pfam:Reprolysin_2
|
238 |
399 |
2.6e-12 |
PFAM |
|
Pfam:Reprolysin_3
|
246 |
366 |
1.2e-17 |
PFAM |
|
DISIN
|
428 |
503 |
3.97e-37 |
SMART |
|
ACR
|
504 |
640 |
8.95e-74 |
SMART |
|
transmembrane domain
|
702 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
745 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
T |
A |
2: 181,135,350 (GRCm39) |
V84E |
probably benign |
Het |
| Ak5 |
T |
A |
3: 152,204,980 (GRCm39) |
D372V |
probably benign |
Het |
| Brpf1 |
C |
T |
6: 113,287,336 (GRCm39) |
P188L |
probably damaging |
Het |
| Cacna2d3 |
C |
T |
14: 29,068,954 (GRCm39) |
V258I |
probably benign |
Het |
| Cd14 |
A |
G |
18: 36,858,912 (GRCm39) |
F181S |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cts6 |
A |
T |
13: 61,345,313 (GRCm39) |
D261E |
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,029,495 (GRCm39) |
T897A |
probably benign |
Het |
| Ddx25 |
T |
A |
9: 35,453,365 (GRCm39) |
|
probably benign |
Het |
| Ddx55 |
A |
G |
5: 124,705,958 (GRCm39) |
E461G |
probably damaging |
Het |
| Degs1 |
T |
C |
1: 182,107,253 (GRCm39) |
K2R |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,799,507 (GRCm39) |
L561F |
probably damaging |
Het |
| Eif4enif1 |
A |
T |
11: 3,177,876 (GRCm39) |
K423* |
probably null |
Het |
| Epha7 |
A |
G |
4: 28,949,325 (GRCm39) |
|
probably null |
Het |
| Erich5 |
A |
C |
15: 34,471,482 (GRCm39) |
E237A |
probably benign |
Het |
| Ficd |
A |
G |
5: 113,876,373 (GRCm39) |
T183A |
probably damaging |
Het |
| Foxb2 |
T |
C |
19: 16,850,908 (GRCm39) |
M33V |
unknown |
Het |
| Gja8 |
T |
G |
3: 96,827,249 (GRCm39) |
S138R |
probably benign |
Het |
| Gm28042 |
T |
G |
2: 119,870,380 (GRCm39) |
L743V |
possibly damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,316,397 (GRCm39) |
|
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,663,057 (GRCm39) |
|
probably null |
Het |
| Kazn |
A |
T |
4: 141,874,410 (GRCm39) |
D315E |
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,756,033 (GRCm39) |
S568T |
possibly damaging |
Het |
| Man1c1 |
A |
C |
4: 134,311,609 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,670,854 (GRCm39) |
S463P |
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Oog2 |
T |
A |
4: 143,923,016 (GRCm39) |
F427Y |
possibly damaging |
Het |
| Pcmtd1 |
T |
C |
1: 7,233,601 (GRCm39) |
|
probably null |
Het |
| Pcnt |
C |
A |
10: 76,188,818 (GRCm39) |
D2861Y |
probably damaging |
Het |
| Pdzd7 |
C |
T |
19: 45,028,697 (GRCm39) |
A149T |
probably damaging |
Het |
| Pebp4 |
A |
T |
14: 70,297,105 (GRCm39) |
T215S |
possibly damaging |
Het |
| Pgm1 |
T |
C |
4: 99,820,707 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
T |
A |
17: 84,883,213 (GRCm39) |
D760E |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,135,689 (GRCm39) |
I351T |
probably benign |
Het |
| Ptpn21 |
C |
T |
12: 98,671,351 (GRCm39) |
|
probably null |
Het |
| Rsad2 |
T |
G |
12: 26,506,186 (GRCm39) |
Y78S |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,124,604 (GRCm39) |
N399K |
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,509,914 (GRCm39) |
V1191A |
probably damaging |
Het |
| Sema6c |
C |
T |
3: 95,077,430 (GRCm39) |
P414L |
probably damaging |
Het |
| Serpinb5 |
T |
C |
1: 106,808,056 (GRCm39) |
S69P |
probably benign |
Het |
| Slc25a13 |
C |
T |
6: 6,042,646 (GRCm39) |
R586H |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,145,934 (GRCm39) |
M776K |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,133,864 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
G |
A |
9: 36,660,933 (GRCm39) |
Q293* |
probably null |
Het |
| Syne4 |
T |
A |
7: 30,015,988 (GRCm39) |
|
probably null |
Het |
| Tomm40l |
C |
T |
1: 171,048,463 (GRCm39) |
V97M |
possibly damaging |
Het |
| Trpc4 |
C |
T |
3: 54,129,783 (GRCm39) |
S183F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,716,478 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
C |
4: 25,269,082 (GRCm39) |
S170A |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 84,643,908 (GRCm39) |
T834I |
probably benign |
Het |
| Vmn2r75 |
A |
G |
7: 85,814,786 (GRCm39) |
S236P |
possibly damaging |
Het |
| Zfp345 |
A |
T |
2: 150,316,805 (GRCm39) |
|
probably benign |
Het |
| Zfp955b |
T |
C |
17: 33,520,893 (GRCm39) |
S121P |
probably damaging |
Het |
|
| Other mutations in Adam39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Adam39
|
APN |
8 |
41,279,783 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01350:Adam39
|
APN |
8 |
41,278,876 (GRCm39) |
nonsense |
probably null |
|
|
IGL02688:Adam39
|
APN |
8 |
41,279,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02890:Adam39
|
APN |
8 |
41,278,190 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03071:Adam39
|
APN |
8 |
41,278,104 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03145:Adam39
|
APN |
8 |
41,277,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0083:Adam39
|
UTSW |
8 |
41,278,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0086:Adam39
|
UTSW |
8 |
41,279,397 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0546:Adam39
|
UTSW |
8 |
41,279,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0548:Adam39
|
UTSW |
8 |
41,279,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1489:Adam39
|
UTSW |
8 |
41,278,031 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1643:Adam39
|
UTSW |
8 |
41,279,523 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1756:Adam39
|
UTSW |
8 |
41,278,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2081:Adam39
|
UTSW |
8 |
41,279,879 (GRCm39) |
makesense |
probably null |
|
|
R4510:Adam39
|
UTSW |
8 |
41,279,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Adam39
|
UTSW |
8 |
41,279,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Adam39
|
UTSW |
8 |
41,278,958 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4673:Adam39
|
UTSW |
8 |
41,277,768 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4704:Adam39
|
UTSW |
8 |
41,278,833 (GRCm39) |
missense |
probably benign |
|
|
R4978:Adam39
|
UTSW |
8 |
41,278,374 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5116:Adam39
|
UTSW |
8 |
41,278,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Adam39
|
UTSW |
8 |
41,279,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5710:Adam39
|
UTSW |
8 |
41,277,684 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5971:Adam39
|
UTSW |
8 |
41,277,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6067:Adam39
|
UTSW |
8 |
41,277,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6078:Adam39
|
UTSW |
8 |
41,277,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6180:Adam39
|
UTSW |
8 |
41,279,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6358:Adam39
|
UTSW |
8 |
41,279,718 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6699:Adam39
|
UTSW |
8 |
41,279,694 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6896:Adam39
|
UTSW |
8 |
41,277,975 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7117:Adam39
|
UTSW |
8 |
41,279,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Adam39
|
UTSW |
8 |
41,279,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7195:Adam39
|
UTSW |
8 |
41,277,812 (GRCm39) |
nonsense |
probably null |
|
|
R7381:Adam39
|
UTSW |
8 |
41,279,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Adam39
|
UTSW |
8 |
41,277,659 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8068:Adam39
|
UTSW |
8 |
41,278,975 (GRCm39) |
missense |
not run |
|
|
R8205:Adam39
|
UTSW |
8 |
41,278,080 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8239:Adam39
|
UTSW |
8 |
41,278,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8792:Adam39
|
UTSW |
8 |
41,279,613 (GRCm39) |
missense |
probably benign |
|
|
R8978:Adam39
|
UTSW |
8 |
41,278,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9472:Adam39
|
UTSW |
8 |
41,279,351 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9562:Adam39
|
UTSW |
8 |
41,277,755 (GRCm39) |
missense |
probably benign |
|
|
R9565:Adam39
|
UTSW |
8 |
41,277,755 (GRCm39) |
missense |
probably benign |
|
|
R9570:Adam39
|
UTSW |
8 |
41,277,687 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9593:Adam39
|
UTSW |
8 |
41,279,744 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
U15987:Adam39
|
UTSW |
8 |
41,277,630 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Adam39
|
UTSW |
8 |
41,278,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation