Incidental Mutation 'R1019:Adam10'
| ID |
96766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam10
|
| Ensembl Gene |
ENSMUSG00000054693 |
| Gene Name |
a disintegrin and metallopeptidase domain 10 |
| Synonyms |
kuzbanian, 1700031C13Rik, kuz |
| MMRRC Submission |
039123-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1019 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
70586279-70687511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70668922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 413
(N413D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067880]
[ENSMUST00000140205]
|
| AlphaFold |
O35598 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067880
AA Change: N413D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: N413D
| 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
AA Change: N413D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693
AA Change: N413D
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
C |
8: 120,872,209 (GRCm39) |
E46Q |
probably damaging |
Het |
| 9130401M01Rik |
A |
G |
15: 57,885,823 (GRCm39) |
I353T |
possibly damaging |
Het |
| A830031A19Rik |
G |
A |
11: 23,999,438 (GRCm39) |
R53C |
unknown |
Het |
| Abcc6 |
T |
C |
7: 45,663,531 (GRCm39) |
R378G |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,415,807 (GRCm39) |
V2712A |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,358,378 (GRCm39) |
F3289S |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,795,440 (GRCm39) |
S2330P |
probably damaging |
Het |
| Ift74 |
C |
T |
4: 94,524,072 (GRCm39) |
A196V |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,708,257 (GRCm39) |
C252* |
probably null |
Het |
| Mrgpra1 |
C |
G |
7: 46,984,833 (GRCm39) |
C282S |
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,346,799 (GRCm39) |
L765Q |
probably damaging |
Het |
| Or13a26 |
C |
T |
7: 140,284,407 (GRCm39) |
P81L |
probably damaging |
Het |
| Or1l8 |
A |
G |
2: 36,817,764 (GRCm39) |
F121L |
probably benign |
Het |
| Otof |
C |
A |
5: 30,528,087 (GRCm39) |
V1924L |
probably damaging |
Het |
| Pdhb |
T |
C |
14: 8,171,442 (GRCm38) |
Q62R |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,628,903 (GRCm39) |
V55A |
probably benign |
Het |
| Poteg |
T |
A |
8: 27,937,852 (GRCm39) |
F3I |
possibly damaging |
Het |
| Rptor |
A |
G |
11: 119,734,569 (GRCm39) |
D46G |
probably damaging |
Het |
| Slc18a1 |
C |
T |
8: 69,527,685 (GRCm39) |
|
probably null |
Het |
| Slc37a1 |
A |
G |
17: 31,534,568 (GRCm39) |
N80S |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,825,998 (GRCm39) |
R17S |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,850,182 (GRCm39) |
S649P |
probably benign |
Het |
| Syngr3 |
G |
T |
17: 24,906,534 (GRCm39) |
Q94K |
possibly damaging |
Het |
| Tgm2 |
C |
A |
2: 157,966,074 (GRCm39) |
E527* |
probably null |
Het |
| Tnc |
T |
A |
4: 63,880,319 (GRCm39) |
T1952S |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,593 (GRCm39) |
R499Q |
probably benign |
Het |
| Uck1 |
A |
G |
2: 32,146,205 (GRCm39) |
V230A |
possibly damaging |
Het |
| Unc13d |
G |
A |
11: 115,958,900 (GRCm39) |
R754C |
probably benign |
Het |
| Zfp708 |
C |
T |
13: 67,222,162 (GRCm39) |
A73T |
probably benign |
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 |
|
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'- GCAACAGTGGCCCCATAGAGCAAG -3'
(R):5'- AGGCGGGAACTGAGTGGCCTCTTAC -3'
Sequencing Primer
(F):5'- GCCCCATAGAGCAAGTGTTTATC -3'
(R):5'- tcctctgacctccacatacc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation