Incidental Mutation 'R7616:Adam10'
| ID |
588920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam10
|
| Ensembl Gene |
ENSMUSG00000054693 |
| Gene Name |
a disintegrin and metallopeptidase domain 10 |
| Synonyms |
kuzbanian, 1700031C13Rik, kuz |
| MMRRC Submission |
045716-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70586279-70687511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70629993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 142
(R142G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067880]
[ENSMUST00000140205]
[ENSMUST00000144537]
|
| AlphaFold |
O35598 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067880
AA Change: R142G
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: R142G
| 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 |
possibly damaging
Transcript: ENSMUST00000140205
AA Change: R142G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693
AA Change: R142G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144537
|
| SMART Domains |
Protein: ENSMUSP00000116867
Gene: ENSMUSG00000054693
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
76 |
145 |
5.8e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.3161 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (41/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
G |
9: 55,896,738 (GRCm39) |
F290S |
probably benign |
Het |
| 4931414P19Rik |
T |
C |
14: 54,823,123 (GRCm39) |
D358G |
probably damaging |
Het |
| A630089N07Rik |
T |
A |
16: 97,867,410 (GRCm39) |
Q184L |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,420,418 (GRCm39) |
T856A |
probably damaging |
Het |
| Angel1 |
A |
G |
12: 86,764,510 (GRCm39) |
S493P |
probably benign |
Het |
| Arid1b |
C |
G |
17: 5,045,661 (GRCm39) |
P150A |
unknown |
Het |
| Atp8b5 |
T |
A |
4: 43,370,823 (GRCm39) |
|
probably null |
Het |
| Cbfa2t3 |
T |
G |
8: 123,360,076 (GRCm39) |
Q525P |
possibly damaging |
Het |
| Clip4 |
T |
C |
17: 72,141,268 (GRCm39) |
Y541H |
probably benign |
Het |
| Cracr2a |
C |
T |
6: 127,585,660 (GRCm39) |
Q153* |
probably null |
Het |
| Dsp |
G |
T |
13: 38,375,458 (GRCm39) |
C1081F |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,078,945 (GRCm39) |
D708G |
probably benign |
Het |
| Eif3d |
A |
T |
15: 77,845,886 (GRCm39) |
D378E |
probably damaging |
Het |
| Etv1 |
T |
A |
12: 38,915,605 (GRCm39) |
M424K |
probably damaging |
Het |
| Fam120b |
T |
G |
17: 15,623,098 (GRCm39) |
S359A |
possibly damaging |
Het |
| Ffar2 |
A |
G |
7: 30,519,357 (GRCm39) |
L61P |
probably damaging |
Het |
| Grm5 |
A |
T |
7: 87,765,409 (GRCm39) |
D879V |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,951 (GRCm39) |
A246E |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,281,633 (GRCm39) |
P1207Q |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,328,168 (GRCm39) |
Y400F |
probably damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,022,574 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,574,161 (GRCm39) |
Y746* |
probably null |
Het |
| Mylk |
T |
C |
16: 34,699,927 (GRCm39) |
F430S |
probably damaging |
Het |
| Nek10 |
G |
A |
14: 14,937,759 (GRCm38) |
C826Y |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,275,092 (GRCm39) |
F51Y |
probably damaging |
Het |
| Or10ag55-ps1 |
T |
C |
2: 87,115,617 (GRCm39) |
*328Q |
probably null |
Het |
| Phf2 |
T |
A |
13: 48,961,083 (GRCm39) |
Y869F |
unknown |
Het |
| Psmb7 |
T |
C |
2: 38,523,976 (GRCm39) |
Y133C |
possibly damaging |
Het |
| Ptcd2 |
G |
A |
13: 99,481,207 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,721,674 (GRCm39) |
N55I |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,053,037 (GRCm39) |
K73* |
probably null |
Het |
| Sult2a5 |
G |
A |
7: 13,404,607 (GRCm39) |
M281I |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,794,084 (GRCm39) |
M647K |
possibly damaging |
Het |
| Trim66 |
T |
A |
7: 109,082,956 (GRCm39) |
D162V |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,091,381 (GRCm39) |
I235N |
probably damaging |
Het |
| Vmn1r175 |
T |
A |
7: 23,508,031 (GRCm39) |
I199F |
possibly damaging |
Het |
| Vmn1r72 |
A |
G |
7: 11,404,272 (GRCm39) |
S59P |
probably damaging |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Zfand2a |
A |
T |
5: 139,464,321 (GRCm39) |
N61K |
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 |
|
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 |
|
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 |
|
|
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'- ACGTGAAAATTAATTTCCCAGCAC -3'
(R):5'- CTGGCCTGTGTTGACAACTG -3'
Sequencing Primer
(F):5'- TCCCAGCACATTTATACTTAGGATAG -3'
(R):5'- CTGTGTTGACAACTGCTATACCACAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation