Incidental Mutation 'R4563:Adam17'
| ID |
343205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adam17
|
| Ensembl Gene |
ENSMUSG00000052593 |
| Gene Name |
a disintegrin and metallopeptidase domain 17 |
| Synonyms |
CD156b, Tace |
| MMRRC Submission |
041788-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R4563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
21373510-21423633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21382089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 591
(C591R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064536]
[ENSMUST00000101551]
[ENSMUST00000127974]
[ENSMUST00000145118]
[ENSMUST00000232526]
[ENSMUST00000232107]
|
| AlphaFold |
Q9Z0F8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064536
AA Change: C591R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067953
Gene: ENSMUSG00000052593
AA Change: C591R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
28 |
167 |
1.1e-11 |
PFAM |
|
Pfam:Reprolysin_5
|
221 |
451 |
6.7e-37 |
PFAM |
|
Pfam:Reprolysin_4
|
221 |
469 |
3.2e-24 |
PFAM |
|
Pfam:Reprolysin_2
|
244 |
464 |
8.8e-29 |
PFAM |
|
Pfam:Reprolysin_3
|
248 |
416 |
1.2e-12 |
PFAM |
|
Pfam:Reprolysin
|
383 |
474 |
3.1e-9 |
PFAM |
|
DISIN
|
484 |
561 |
6.27e-26 |
SMART |
|
PDB:2M2F|A
|
581 |
642 |
4e-32 |
PDB |
|
transmembrane domain
|
672 |
694 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101551
AA Change: C610R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099087
Gene: ENSMUSG00000052593
AA Change: C610R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
31 |
167 |
9.7e-15 |
PFAM |
|
Pfam:Reprolysin_5
|
221 |
470 |
5e-34 |
PFAM |
|
Pfam:Reprolysin_4
|
221 |
488 |
6.1e-20 |
PFAM |
|
Pfam:Reprolysin_2
|
264 |
483 |
2.6e-34 |
PFAM |
|
Pfam:Reprolysin_3
|
267 |
435 |
2.8e-14 |
PFAM |
|
Pfam:Reprolysin
|
330 |
493 |
5.3e-9 |
PFAM |
|
DISIN
|
503 |
580 |
6.27e-26 |
SMART |
|
Pfam:ADAM17_MPD
|
600 |
661 |
1e-23 |
PFAM |
|
transmembrane domain
|
691 |
713 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127974
|
| SMART Domains |
Protein: ENSMUSP00000136677
Gene: ENSMUSG00000052593
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
25 |
167 |
9.1e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141799
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145118
AA Change: C591R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136407
Gene: ENSMUSG00000052593
AA Change: C591R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
28 |
167 |
7.5e-12 |
PFAM |
|
Pfam:Reprolysin_5
|
221 |
451 |
4.2e-37 |
PFAM |
|
Pfam:Reprolysin_4
|
221 |
469 |
2e-24 |
PFAM |
|
Pfam:Reprolysin_2
|
244 |
464 |
5.6e-29 |
PFAM |
|
Pfam:Reprolysin_3
|
248 |
416 |
7.8e-13 |
PFAM |
|
Pfam:Reprolysin
|
381 |
474 |
2.2e-9 |
PFAM |
|
DISIN
|
484 |
561 |
6.27e-26 |
SMART |
|
PDB:2M2F|A
|
581 |
638 |
5e-29 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155115
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232526
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232107
|
| Meta Mutation Damage Score |
0.7089 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (40/40) |
| 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 or fail to survive beyond one week of age. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Most mice homozygous for targeted mutations that inactivate the gene die perinatally with stunted vibrissae and open eyelids. Survivors display various degrees of eye degeneration, perturbed hair coats, curly vibrissae, and irregular pigmentation patterns. Histological analysis of fetuses reveal defects in epithelial cell maturation and organization in multiple organs. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(13) : Targeted, knock-out(2) Targeted, other(3) Gene trapped(8) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Calm5 |
C |
A |
13: 3,904,402 (GRCm39) |
S32* |
probably null |
Het |
| Ccdc198 |
T |
A |
14: 49,471,955 (GRCm39) |
M152L |
probably benign |
Het |
| Cln3 |
G |
T |
7: 126,171,730 (GRCm39) |
S346R |
probably damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Glipr2 |
A |
T |
4: 43,977,600 (GRCm39) |
N77Y |
probably damaging |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,766,264 (GRCm39) |
V37A |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
G |
T |
1: 20,879,869 (GRCm39) |
R543S |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,505,660 (GRCm39) |
D43G |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,928,457 (GRCm39) |
Y703H |
probably benign |
Het |
| Ncf2 |
T |
C |
1: 152,683,976 (GRCm39) |
|
probably benign |
Het |
| Nek6 |
T |
G |
2: 38,475,305 (GRCm39) |
V282G |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,666 (GRCm39) |
D197G |
possibly damaging |
Het |
| Nup93 |
G |
T |
8: 95,034,520 (GRCm39) |
V612F |
probably damaging |
Het |
| Or5be3 |
C |
T |
2: 86,864,028 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,646 (GRCm39) |
F103L |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,887,404 (GRCm39) |
K36E |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,997 (GRCm39) |
E329G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,383 (GRCm39) |
Q256R |
probably damaging |
Het |
| Pctp |
A |
T |
11: 89,879,578 (GRCm39) |
D94E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pex14 |
A |
T |
4: 149,126,225 (GRCm39) |
V41D |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,561 (GRCm39) |
K366R |
probably damaging |
Het |
| Rprd1a |
A |
C |
18: 24,640,160 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
C |
9: 59,657,546 (GRCm39) |
M1R |
probably null |
Het |
| Slc49a4 |
T |
C |
16: 35,518,312 (GRCm39) |
Y467C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,286 (GRCm39) |
T1581A |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,536,035 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,443,622 (GRCm39) |
|
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,308 (GRCm39) |
T69A |
probably damaging |
Het |
|
| Other mutations in Adam17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:Adam17
|
APN |
12 |
21,378,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01340:Adam17
|
APN |
12 |
21,380,058 (GRCm39) |
nonsense |
probably null |
|
|
IGL01973:Adam17
|
APN |
12 |
21,399,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Adam17
|
APN |
12 |
21,411,706 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03153:Adam17
|
APN |
12 |
21,395,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Steinway
|
UTSW |
12 |
21,403,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
wavedx
|
UTSW |
12 |
21,390,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Adam17
|
UTSW |
12 |
21,386,645 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0080:Adam17
|
UTSW |
12 |
21,379,049 (GRCm39) |
splice site |
probably benign |
|
|
R0082:Adam17
|
UTSW |
12 |
21,379,049 (GRCm39) |
splice site |
probably benign |
|
|
R0324:Adam17
|
UTSW |
12 |
21,399,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0511:Adam17
|
UTSW |
12 |
21,390,459 (GRCm39) |
splice site |
probably benign |
|
|
R0745:Adam17
|
UTSW |
12 |
21,382,222 (GRCm39) |
splice site |
probably benign |
|
|
R1314:Adam17
|
UTSW |
12 |
21,379,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Adam17
|
UTSW |
12 |
21,403,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1594:Adam17
|
UTSW |
12 |
21,390,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1607:Adam17
|
UTSW |
12 |
21,384,139 (GRCm39) |
splice site |
probably null |
|
|
R1812:Adam17
|
UTSW |
12 |
21,411,768 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2020:Adam17
|
UTSW |
12 |
21,399,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3408:Adam17
|
UTSW |
12 |
21,379,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Adam17
|
UTSW |
12 |
21,375,413 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3886:Adam17
|
UTSW |
12 |
21,375,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3888:Adam17
|
UTSW |
12 |
21,375,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Adam17
|
UTSW |
12 |
21,375,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4415:Adam17
|
UTSW |
12 |
21,395,702 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4658:Adam17
|
UTSW |
12 |
21,382,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Adam17
|
UTSW |
12 |
21,384,016 (GRCm39) |
missense |
probably benign |
|
|
R4793:Adam17
|
UTSW |
12 |
21,397,396 (GRCm39) |
missense |
probably benign |
|
|
R5101:Adam17
|
UTSW |
12 |
21,423,406 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5120:Adam17
|
UTSW |
12 |
21,393,020 (GRCm39) |
intron |
probably benign |
|
|
R5514:Adam17
|
UTSW |
12 |
21,390,520 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5592:Adam17
|
UTSW |
12 |
21,384,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5874:Adam17
|
UTSW |
12 |
21,379,087 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6110:Adam17
|
UTSW |
12 |
21,403,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6451:Adam17
|
UTSW |
12 |
21,392,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6930:Adam17
|
UTSW |
12 |
21,403,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6970:Adam17
|
UTSW |
12 |
21,395,669 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7213:Adam17
|
UTSW |
12 |
21,386,679 (GRCm39) |
nonsense |
probably null |
|
|
R7302:Adam17
|
UTSW |
12 |
21,405,694 (GRCm39) |
intron |
probably benign |
|
|
R7361:Adam17
|
UTSW |
12 |
21,375,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7667:Adam17
|
UTSW |
12 |
21,383,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7799:Adam17
|
UTSW |
12 |
21,390,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Adam17
|
UTSW |
12 |
21,401,595 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8958:Adam17
|
UTSW |
12 |
21,399,934 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9108:Adam17
|
UTSW |
12 |
21,380,132 (GRCm39) |
missense |
probably benign |
|
|
R9163:Adam17
|
UTSW |
12 |
21,401,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9295:Adam17
|
UTSW |
12 |
21,399,938 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9345:Adam17
|
UTSW |
12 |
21,378,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9444:Adam17
|
UTSW |
12 |
21,375,536 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9522:Adam17
|
UTSW |
12 |
21,395,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9582:Adam17
|
UTSW |
12 |
21,386,665 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0063:Adam17
|
UTSW |
12 |
21,382,586 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1176:Adam17
|
UTSW |
12 |
21,411,738 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACTCGGGTCTGAAATGG -3'
(R):5'- CAACTATTGTGCCTTGGACTG -3'
Sequencing Primer
(F):5'- CTGACTCGGGTCTGAAATGGAGTAG -3'
(R):5'- GCCTTGGACTGAGTGTGAATG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation