Incidental Mutation 'IGL01350:Adam39'
| ID |
75304 |
| 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: 0.089)
|
| Stock # |
IGL01350
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41276046-41279898 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 41278876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 422
(C422*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066814]
|
| AlphaFold |
Q7M762 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066814
AA Change: C422*
|
| SMART Domains |
Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: C422*
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,187,208 (GRCm39) |
I926T |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,338 (GRCm39) |
N81S |
probably damaging |
Het |
| Amd1 |
A |
T |
10: 40,166,186 (GRCm39) |
Y264* |
probably null |
Het |
| Axl |
T |
C |
7: 25,458,175 (GRCm39) |
Y851C |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 22,463,690 (GRCm39) |
L160P |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,136,812 (GRCm39) |
Y273* |
probably null |
Het |
| Cyb5rl |
T |
C |
4: 106,941,409 (GRCm39) |
V278A |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,771 (GRCm39) |
F417S |
probably damaging |
Het |
| Dnah7b |
C |
A |
1: 46,120,592 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
T |
1: 77,483,492 (GRCm39) |
D172E |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 22,989,873 (GRCm39) |
I495F |
possibly damaging |
Het |
| Gpr150 |
A |
T |
13: 76,204,542 (GRCm39) |
H134Q |
probably benign |
Het |
| Gpr153 |
T |
G |
4: 152,366,423 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,250 (GRCm39) |
Y333H |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,242,775 (GRCm39) |
M21T |
probably benign |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,341,328 (GRCm39) |
R951C |
probably damaging |
Het |
| Msi1 |
A |
G |
5: 115,573,580 (GRCm39) |
K126R |
possibly damaging |
Het |
| Nkx2-6 |
T |
A |
14: 69,412,222 (GRCm39) |
F130Y |
probably damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,160 (GRCm39) |
L218Q |
probably damaging |
Het |
| Or12j4 |
G |
T |
7: 140,046,292 (GRCm39) |
M59I |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or8j3 |
A |
G |
2: 86,028,149 (GRCm39) |
*316Q |
probably null |
Het |
| Pah |
T |
A |
10: 87,414,221 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,358,583 (GRCm39) |
E602K |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,474,408 (GRCm39) |
T623M |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,909,109 (GRCm39) |
|
probably null |
Het |
| Prl7b1 |
T |
A |
13: 27,786,804 (GRCm39) |
T142S |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,173,544 (GRCm39) |
H1090R |
probably damaging |
Het |
| Siglecf |
G |
T |
7: 43,005,319 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,746 (GRCm39) |
V105A |
probably damaging |
Het |
| Thnsl1 |
T |
C |
2: 21,217,011 (GRCm39) |
V255A |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,020,757 (GRCm39) |
*84K |
probably null |
Het |
| Trrap |
C |
T |
5: 144,767,779 (GRCm39) |
L2579F |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,276,489 (GRCm39) |
T211A |
probably benign |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,716 (GRCm39) |
V302D |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,857,420 (GRCm39) |
C572* |
probably null |
Het |
| Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,444 (GRCm39) |
V52A |
probably benign |
Het |
| Zfp977 |
T |
C |
7: 42,230,090 (GRCm39) |
Y145C |
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 |
|
IGL02237:Adam39
|
APN |
8 |
41,278,482 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
2013-10-07 |
Incidental Mutation