Incidental Mutation 'R0785:Adam10'
| ID |
76822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam10
|
| Ensembl Gene |
ENSMUSG00000054693 |
| Gene Name |
a disintegrin and metallopeptidase domain 10 |
| Synonyms |
kuzbanian, 1700031C13Rik, kuz |
| MMRRC Submission |
038965-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0785 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70586279-70687511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70675170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 593
(E593G)
|
| 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: E593G
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: E593G
| 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 |
|
| Meta Mutation Damage Score |
0.1003 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.1%
- 20x: 87.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
| Adh6a |
T |
C |
3: 138,034,829 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
T |
A |
12: 52,933,405 (GRCm39) |
I299N |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,013,483 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
A |
T |
5: 41,977,359 (GRCm39) |
N1318K |
probably benign |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,598,434 (GRCm39) |
D327G |
probably benign |
Het |
| Eif2b2 |
C |
A |
12: 85,268,335 (GRCm39) |
T170K |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,242,239 (GRCm39) |
H138Q |
probably damaging |
Het |
| Ern2 |
A |
T |
7: 121,770,884 (GRCm39) |
|
probably null |
Het |
| Fkbp11 |
T |
C |
15: 98,624,430 (GRCm39) |
K108R |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,719,152 (GRCm39) |
K353E |
possibly damaging |
Het |
| Hipk1 |
G |
T |
3: 103,661,641 (GRCm39) |
|
probably null |
Het |
| Itga4 |
A |
G |
2: 79,119,649 (GRCm39) |
D485G |
possibly damaging |
Het |
| Krt1c |
C |
A |
15: 101,726,356 (GRCm39) |
G61C |
unknown |
Het |
| Med12l |
T |
A |
3: 59,168,253 (GRCm39) |
L1561Q |
probably damaging |
Het |
| Mtmr14 |
T |
C |
6: 113,254,908 (GRCm39) |
|
probably null |
Het |
| Myorg |
A |
G |
4: 41,497,539 (GRCm39) |
V697A |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,584 (GRCm39) |
M1140T |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,593 (GRCm39) |
R1137Q |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,070,081 (GRCm39) |
H251Q |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,646,566 (GRCm39) |
D1366G |
possibly damaging |
Het |
| Or2b7 |
A |
G |
13: 21,739,958 (GRCm39) |
V78A |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,336,750 (GRCm39) |
|
probably null |
Het |
| Pde6c |
A |
C |
19: 38,121,628 (GRCm39) |
M79L |
probably benign |
Het |
| Pld5 |
C |
T |
1: 175,803,018 (GRCm39) |
|
probably benign |
Het |
| Polr1g |
G |
C |
7: 19,091,210 (GRCm39) |
S299C |
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,541,142 (GRCm39) |
V387A |
probably damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,890 (GRCm39) |
D79G |
probably benign |
Het |
| Tmem243 |
A |
T |
5: 9,168,488 (GRCm39) |
K90I |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,192,289 (GRCm39) |
H260R |
probably damaging |
Het |
| Trappc1 |
A |
G |
11: 69,215,636 (GRCm39) |
|
probably benign |
Het |
| Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
| Zfp300 |
T |
C |
X: 20,949,164 (GRCm39) |
Y200C |
possibly 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 |
|
IGL00582:Adam10
|
APN |
9 |
70,674,177 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTATGCACAAGAGTACAACTAGGCA -3'
(R):5'- GCTCTCCACATCAAGGCTCCATCAT -3'
Sequencing Primer
(F):5'- tgcggatcagacccagg -3'
(R):5'- TGGTCTCAAAGGCCTTTCTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation