Incidental Mutation 'IGL00582:Adam10'
| ID |
12439 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adam10
|
| Ensembl Gene |
ENSMUSG00000054693 |
| Gene Name |
a disintegrin and metallopeptidase domain 10 |
| Synonyms |
kuzbanian, 1700031C13Rik, kuz |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00582
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
70586279-70687511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70674177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 513
(T513K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067880]
[ENSMUST00000140205]
|
| AlphaFold |
O35598 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067880
AA Change: T513K
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: T513K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
27 |
156 |
7.5e-15 |
PFAM |
|
Pfam:Reprolysin_5
|
219 |
434 |
1e-33 |
PFAM |
|
Pfam:Reprolysin_4
|
219 |
453 |
2.1e-29 |
PFAM |
|
Pfam:Reprolysin
|
221 |
457 |
6.1e-8 |
PFAM |
|
Pfam:Reprolysin_2
|
240 |
447 |
6.5e-39 |
PFAM |
|
Pfam:Reprolysin_3
|
244 |
395 |
4.6e-27 |
PFAM |
|
DISIN
|
467 |
551 |
5.99e-23 |
SMART |
|
transmembrane domain
|
675 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
709 |
739 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140205
|
| SMART Domains |
Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
26 |
156 |
5.8e-18 |
PFAM |
|
Pfam:Reprolysin_5
|
219 |
434 |
2.6e-34 |
PFAM |
|
Pfam:Reprolysin_4
|
219 |
453 |
4e-30 |
PFAM |
|
Pfam:Reprolysin
|
221 |
457 |
4.4e-10 |
PFAM |
|
Pfam:Reprolysin_2
|
240 |
447 |
5.1e-36 |
PFAM |
|
Pfam:Reprolysin_3
|
244 |
395 |
1.7e-24 |
PFAM |
|
DISIN
|
467 |
513 |
1.48e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature enzyme that is involved in the proteolytic release of membrane-bound proteins in a process called ectodomain shedding. Mice lacking the encoded protein die in utero with multiple defects of the developing central nervous system, somites, and cardiovascular system. [provided by RefSeq, May 2016]
PHENOTYPE: Targeted inactivation of this gene leads to embryonic lethality at E9.5. Embryos homozygous for a knock-out allele display decreased size and multiple abnormalities related to Notch signaling, including defects of the developing central nervous system, somites, and cardiovascular system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn1 |
C |
A |
19: 6,057,299 (GRCm39) |
G383V |
probably damaging |
Het |
| Csf1 |
A |
G |
3: 107,664,043 (GRCm39) |
S42P |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,796,257 (GRCm39) |
|
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,932,980 (GRCm39) |
E2046D |
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,790,593 (GRCm39) |
V271A |
probably damaging |
Het |
| Pik3c2a |
G |
T |
7: 115,975,518 (GRCm39) |
T683K |
possibly damaging |
Het |
| Ranbp17 |
G |
A |
11: 33,454,683 (GRCm39) |
T55I |
probably damaging |
Het |
| Sema3d |
C |
T |
5: 12,635,162 (GRCm39) |
R743C |
probably damaging |
Het |
| Setbp1 |
G |
A |
18: 78,798,894 (GRCm39) |
Q1429* |
probably null |
Het |
| Sirt7 |
A |
G |
11: 120,509,735 (GRCm39) |
I383T |
probably benign |
Het |
| Sis |
T |
C |
3: 72,853,969 (GRCm39) |
I503V |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,678 (GRCm39) |
Y402F |
probably damaging |
Het |
| Usp17le |
T |
C |
7: 104,417,994 (GRCm39) |
T383A |
probably benign |
Het |
| Zfp248 |
A |
T |
6: 118,406,693 (GRCm39) |
Y299N |
probably damaging |
Het |
| Zfp420 |
T |
C |
7: 29,574,518 (GRCm39) |
I246T |
probably damaging |
Het |
|
| Other mutations in Adam10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00570:Adam10
|
APN |
9 |
70,626,028 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02021:Adam10
|
APN |
9 |
70,651,191 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02149:Adam10
|
APN |
9 |
70,610,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03310:Adam10
|
APN |
9 |
70,685,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Adam10
|
UTSW |
9 |
70,673,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Adam10
|
UTSW |
9 |
70,655,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Adam10
|
UTSW |
9 |
70,655,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Adam10
|
UTSW |
9 |
70,655,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Adam10
|
UTSW |
9 |
70,661,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Adam10
|
UTSW |
9 |
70,673,223 (GRCm39) |
splice site |
probably benign |
|
|
R0735:Adam10
|
UTSW |
9 |
70,655,533 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0785:Adam10
|
UTSW |
9 |
70,675,170 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0881:Adam10
|
UTSW |
9 |
70,653,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1019:Adam10
|
UTSW |
9 |
70,668,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1169:Adam10
|
UTSW |
9 |
70,653,574 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1779:Adam10
|
UTSW |
9 |
70,683,651 (GRCm39) |
splice site |
probably benign |
|
|
R2048:Adam10
|
UTSW |
9 |
70,647,357 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2911:Adam10
|
UTSW |
9 |
70,626,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3890:Adam10
|
UTSW |
9 |
70,676,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4608:Adam10
|
UTSW |
9 |
70,651,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4609:Adam10
|
UTSW |
9 |
70,647,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4689:Adam10
|
UTSW |
9 |
70,673,236 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5135:Adam10
|
UTSW |
9 |
70,673,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5496:Adam10
|
UTSW |
9 |
70,630,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Adam10
|
UTSW |
9 |
70,647,399 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6730:Adam10
|
UTSW |
9 |
70,647,458 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6825:Adam10
|
UTSW |
9 |
70,668,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6987:Adam10
|
UTSW |
9 |
70,629,978 (GRCm39) |
missense |
probably benign |
|
|
R7616:Adam10
|
UTSW |
9 |
70,629,993 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7829:Adam10
|
UTSW |
9 |
70,674,209 (GRCm39) |
nonsense |
probably null |
|
|
R7908:Adam10
|
UTSW |
9 |
70,669,046 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8445:Adam10
|
UTSW |
9 |
70,674,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8447:Adam10
|
UTSW |
9 |
70,655,400 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8690:Adam10
|
UTSW |
9 |
70,655,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Adam10
|
UTSW |
9 |
70,655,458 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0020:Adam10
|
UTSW |
9 |
70,647,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Adam10
|
UTSW |
9 |
70,673,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation