Incidental Mutation 'R7224:Adamts7'
| ID |
562037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts7
|
| Ensembl Gene |
ENSMUSG00000032363 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 7 |
| Synonyms |
ADAM-TS7 |
| MMRRC Submission |
045296-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7224 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
90041420-90082155 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90067868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 453
(Y453H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113059]
[ENSMUST00000113060]
[ENSMUST00000134996]
[ENSMUST00000147250]
[ENSMUST00000167122]
|
| AlphaFold |
Q68SA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113059
AA Change: Y453H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363
AA Change: Y453H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
34 |
174 |
1.1e-36 |
PFAM |
|
low complexity region
|
203 |
220 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
224 |
411 |
1.3e-16 |
PFAM |
|
Pfam:Reprolysin_4
|
224 |
425 |
8.5e-9 |
PFAM |
|
Pfam:Reprolysin
|
226 |
437 |
2.2e-27 |
PFAM |
|
Pfam:Reprolysin_2
|
244 |
427 |
2.9e-12 |
PFAM |
|
Pfam:Reprolysin_3
|
248 |
383 |
5.2e-13 |
PFAM |
|
Blast:ACR
|
442 |
513 |
5e-15 |
BLAST |
|
TSP1
|
526 |
578 |
4.9e-13 |
SMART |
|
Pfam:ADAM_spacer1
|
683 |
794 |
2.2e-36 |
PFAM |
|
TSP1
|
807 |
863 |
1.45e-6 |
SMART |
|
TSP1
|
866 |
908 |
2.41e-1 |
SMART |
|
TSP1
|
929 |
978 |
1.45e-6 |
SMART |
|
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1211 |
1233 |
N/A |
INTRINSIC |
|
TSP1
|
1385 |
1435 |
2.4e-2 |
SMART |
|
TSP1
|
1436 |
1493 |
1.8e-2 |
SMART |
|
TSP1
|
1495 |
1542 |
4.82e-2 |
SMART |
|
TSP1
|
1543 |
1600 |
1.39e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113060
AA Change: Y453H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363
AA Change: Y453H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
33 |
174 |
3.4e-28 |
PFAM |
|
low complexity region
|
203 |
220 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
224 |
411 |
1.6e-16 |
PFAM |
|
Pfam:Reprolysin_4
|
224 |
425 |
8.2e-9 |
PFAM |
|
Pfam:Reprolysin
|
226 |
437 |
6.4e-30 |
PFAM |
|
Pfam:Reprolysin_2
|
244 |
427 |
4.6e-12 |
PFAM |
|
Pfam:Reprolysin_3
|
248 |
383 |
8.1e-13 |
PFAM |
|
Blast:ACR
|
442 |
513 |
5e-15 |
BLAST |
|
TSP1
|
526 |
578 |
4.9e-13 |
SMART |
|
Pfam:ADAM_spacer1
|
683 |
794 |
1.5e-36 |
PFAM |
|
TSP1
|
807 |
863 |
1.45e-6 |
SMART |
|
TSP1
|
866 |
908 |
2.41e-1 |
SMART |
|
low complexity region
|
969 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1169 |
1191 |
N/A |
INTRINSIC |
|
TSP1
|
1343 |
1393 |
2.4e-2 |
SMART |
|
TSP1
|
1394 |
1451 |
1.8e-2 |
SMART |
|
TSP1
|
1453 |
1500 |
4.82e-2 |
SMART |
|
TSP1
|
1501 |
1558 |
1.39e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134996
AA Change: Y453H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119744
Gene: ENSMUSG00000032363
AA Change: Y453H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
33 |
174 |
2.4e-29 |
PFAM |
|
low complexity region
|
203 |
220 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
224 |
412 |
1e-17 |
PFAM |
|
Pfam:Reprolysin_4
|
224 |
426 |
5e-10 |
PFAM |
|
Pfam:Reprolysin
|
226 |
437 |
3.7e-31 |
PFAM |
|
Pfam:Reprolysin_2
|
244 |
427 |
3.2e-13 |
PFAM |
|
Pfam:Reprolysin_3
|
248 |
383 |
6.3e-14 |
PFAM |
|
Blast:ACR
|
439 |
505 |
7e-12 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147250
AA Change: Y453H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115972
Gene: ENSMUSG00000032363
AA Change: Y453H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
33 |
174 |
2.7e-26 |
PFAM |
|
low complexity region
|
203 |
220 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
224 |
411 |
1.4e-14 |
PFAM |
|
Pfam:Reprolysin_4
|
224 |
425 |
7e-7 |
PFAM |
|
Pfam:Reprolysin
|
226 |
437 |
4.9e-28 |
PFAM |
|
Pfam:Reprolysin_2
|
244 |
427 |
5e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
248 |
383 |
6.5e-11 |
PFAM |
|
ACR
|
439 |
515 |
1.7e-5 |
SMART |
|
TSP1
|
526 |
578 |
2.3e-15 |
SMART |
|
Pfam:ADAM_spacer1
|
683 |
794 |
3.5e-34 |
PFAM |
|
TSP1
|
807 |
863 |
6.9e-9 |
SMART |
|
TSP1
|
866 |
908 |
1.2e-3 |
SMART |
|
low complexity region
|
969 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1169 |
1191 |
N/A |
INTRINSIC |
|
TSP1
|
1284 |
1334 |
1.2e-4 |
SMART |
|
TSP1
|
1335 |
1392 |
8.7e-5 |
SMART |
|
TSP1
|
1394 |
1441 |
2.3e-4 |
SMART |
|
TSP1
|
1442 |
1499 |
6.5e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167122
AA Change: Y453H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363
AA Change: Y453H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
33 |
174 |
1.4e-28 |
PFAM |
|
low complexity region
|
203 |
220 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
224 |
411 |
7.2e-17 |
PFAM |
|
Pfam:Reprolysin_4
|
224 |
425 |
3.6e-9 |
PFAM |
|
Pfam:Reprolysin
|
226 |
437 |
2.9e-30 |
PFAM |
|
Pfam:Reprolysin_2
|
244 |
427 |
2.2e-12 |
PFAM |
|
Pfam:Reprolysin_3
|
248 |
383 |
3.7e-13 |
PFAM |
|
Blast:ACR
|
442 |
513 |
5e-15 |
BLAST |
|
TSP1
|
526 |
578 |
4.9e-13 |
SMART |
|
Pfam:ADAM_spacer1
|
683 |
794 |
1.1e-36 |
PFAM |
|
TSP1
|
807 |
863 |
1.45e-6 |
SMART |
|
TSP1
|
866 |
908 |
2.41e-1 |
SMART |
|
TSP1
|
929 |
978 |
1.45e-6 |
SMART |
|
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1211 |
1233 |
N/A |
INTRINSIC |
|
TSP1
|
1385 |
1435 |
2.4e-2 |
SMART |
|
TSP1
|
1436 |
1493 |
1.8e-2 |
SMART |
|
TSP1
|
1495 |
1542 |
4.82e-2 |
SMART |
|
TSP1
|
1543 |
1600 |
1.39e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.4830 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| Validation Efficiency |
99% (79/80) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent enzyme that degrades cartilage oligomeric matrix protein. The deficiency of the encoded protein decreases atherosclerosis in genetically hyperlipidemic mice and in response to vascular injury. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for a null allele show increased lung function parameters, reduced endothelial cell migration and proliferation, increased re-endothelialization and ameliorated neointima formation after carotid artery injury, and increased oval cell activation and biliary fibrosis after liver injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
C |
T |
3: 59,943,275 (GRCm39) |
T60M |
probably benign |
Het |
| Actn4 |
C |
T |
7: 28,661,509 (GRCm39) |
A34T |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,041,245 (GRCm39) |
M466V |
probably benign |
Het |
| Amfr |
G |
A |
8: 94,711,484 (GRCm39) |
P351S |
probably damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,516,688 (GRCm39) |
T492M |
probably benign |
Het |
| Anxa6 |
A |
G |
11: 54,876,993 (GRCm39) |
F547L |
probably damaging |
Het |
| Ap5m1 |
T |
G |
14: 49,318,384 (GRCm39) |
Y394D |
unknown |
Het |
| Atic |
G |
A |
1: 71,610,014 (GRCm39) |
V342I |
probably benign |
Het |
| Atl1 |
C |
A |
12: 70,002,127 (GRCm39) |
T362N |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,447,219 (GRCm39) |
M654L |
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,588,503 (GRCm39) |
M241L |
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,659,877 (GRCm39) |
V186A |
possibly damaging |
Het |
| Brme1 |
A |
G |
8: 84,898,842 (GRCm39) |
T577A |
probably benign |
Het |
| C8b |
T |
C |
4: 104,637,795 (GRCm39) |
L89P |
probably damaging |
Het |
| Capn7 |
G |
T |
14: 31,092,678 (GRCm39) |
E742* |
probably null |
Het |
| Ccdc162 |
G |
A |
10: 41,437,187 (GRCm39) |
R1741C |
probably damaging |
Het |
| Cdhr17 |
T |
C |
5: 17,041,592 (GRCm39) |
V615A |
possibly damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,047 (GRCm39) |
L395H |
probably damaging |
Het |
| Cnot9 |
A |
G |
1: 74,556,388 (GRCm39) |
T62A |
probably benign |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
| Cyp2d12 |
T |
A |
15: 82,441,849 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,436,420 (GRCm39) |
V3974A |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,584,196 (GRCm39) |
G533D |
possibly damaging |
Het |
| Eddm13 |
T |
G |
7: 6,271,801 (GRCm39) |
M77R |
probably benign |
Het |
| Elfn1 |
A |
G |
5: 139,958,228 (GRCm39) |
S411G |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,652,782 (GRCm39) |
D725G |
possibly damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,073,595 (GRCm39) |
|
probably null |
Het |
| Fndc8 |
T |
C |
11: 82,783,151 (GRCm39) |
M44T |
probably benign |
Het |
| Gcgr |
A |
T |
11: 120,425,538 (GRCm39) |
|
probably benign |
Het |
| Ggt1 |
T |
A |
10: 75,410,110 (GRCm39) |
V14D |
possibly damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,331,447 (GRCm39) |
I198M |
unknown |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm6034 |
T |
A |
17: 36,367,331 (GRCm39) |
S59T |
unknown |
Het |
| Gm6408 |
G |
A |
5: 146,421,180 (GRCm39) |
V270I |
probably benign |
Het |
| Gpr20 |
A |
T |
15: 73,567,981 (GRCm39) |
I136N |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,268,160 (GRCm39) |
E565G |
|
Het |
| Igsf9 |
T |
C |
1: 172,322,349 (GRCm39) |
S515P |
probably damaging |
Het |
| Kbtbd12 |
G |
A |
6: 88,590,965 (GRCm39) |
R416* |
probably null |
Het |
| Kcnd3 |
A |
T |
3: 105,576,400 (GRCm39) |
I615F |
probably damaging |
Het |
| Kcnk7 |
A |
T |
19: 5,756,805 (GRCm39) |
M265L |
probably benign |
Het |
| Klhdc1 |
G |
A |
12: 69,309,923 (GRCm39) |
S275N |
probably damaging |
Het |
| Ldc1 |
C |
G |
4: 130,112,992 (GRCm39) |
A135P |
probably damaging |
Het |
| Lrba |
A |
C |
3: 86,302,553 (GRCm39) |
N1871T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,982,134 (GRCm39) |
V169A |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,660,070 (GRCm39) |
I1175T |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,489,369 (GRCm39) |
T537A |
possibly damaging |
Het |
| Mrpl17 |
T |
C |
7: 105,459,209 (GRCm39) |
N129S |
probably damaging |
Het |
| Mup5 |
G |
A |
4: 61,750,622 (GRCm39) |
R174C |
probably damaging |
Het |
| Ndufaf1 |
G |
A |
2: 119,488,877 (GRCm39) |
R216C |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,224,671 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or52m2 |
A |
T |
7: 102,263,974 (GRCm39) |
M74K |
probably damaging |
Het |
| Or5a1 |
T |
C |
19: 12,097,912 (GRCm39) |
T55A |
probably benign |
Het |
| Or8b12b |
G |
A |
9: 37,684,711 (GRCm39) |
G252D |
possibly damaging |
Het |
| Osbpl8 |
C |
T |
10: 111,110,872 (GRCm39) |
P458L |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,511 (GRCm39) |
E263G |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,895,241 (GRCm39) |
L623P |
|
Het |
| Plxdc1 |
T |
C |
11: 97,823,153 (GRCm39) |
T363A |
possibly damaging |
Het |
| Pole3 |
T |
C |
4: 62,442,287 (GRCm39) |
D111G |
unknown |
Het |
| R3hdm2 |
T |
A |
10: 127,294,022 (GRCm39) |
L172Q |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,599,322 (GRCm39) |
V90A |
|
Het |
| Rcbtb1 |
C |
G |
14: 59,465,828 (GRCm39) |
I390M |
probably damaging |
Het |
| Romo1 |
G |
A |
2: 155,986,295 (GRCm39) |
|
probably benign |
Het |
| Sars1 |
A |
G |
3: 108,335,519 (GRCm39) |
Y410H |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,224,724 (GRCm39) |
T327A |
probably benign |
Het |
| Slc30a5 |
A |
G |
13: 100,945,762 (GRCm39) |
V530A |
probably damaging |
Het |
| Slc30a9 |
G |
A |
5: 67,473,044 (GRCm39) |
E43K |
probably benign |
Het |
| Slc38a2 |
A |
C |
15: 96,589,240 (GRCm39) |
L418W |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,276,614 (GRCm39) |
E557G |
possibly damaging |
Het |
| Spata33 |
T |
A |
8: 123,948,737 (GRCm39) |
I123K |
probably damaging |
Het |
| Tdrd3 |
A |
T |
14: 87,714,839 (GRCm39) |
H170L |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,868,854 (GRCm39) |
|
probably null |
Het |
| Tsr3 |
A |
T |
17: 25,461,569 (GRCm39) |
E302D |
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,792,685 (GRCm39) |
I386T |
probably damaging |
Het |
| Usp2 |
C |
T |
9: 43,987,266 (GRCm39) |
T188M |
possibly damaging |
Het |
| Usp44 |
A |
G |
10: 93,681,855 (GRCm39) |
I102V |
probably benign |
Het |
| Wasf1 |
A |
G |
10: 40,802,546 (GRCm39) |
N67S |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,681,208 (GRCm39) |
N911S |
probably benign |
Het |
| Zfp467 |
A |
G |
6: 48,421,903 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Adamts7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00547:Adamts7
|
APN |
9 |
90,076,302 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL00673:Adamts7
|
APN |
9 |
90,075,714 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL00902:Adamts7
|
APN |
9 |
90,070,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01303:Adamts7
|
APN |
9 |
90,053,787 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01333:Adamts7
|
APN |
9 |
90,069,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01431:Adamts7
|
APN |
9 |
90,089,838 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01595:Adamts7
|
APN |
9 |
90,075,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02728:Adamts7
|
APN |
9 |
90,073,880 (GRCm39) |
splice site |
probably benign |
|
|
IGL02860:Adamts7
|
APN |
9 |
90,073,915 (GRCm39) |
missense |
probably benign |
|
|
IGL03237:Adamts7
|
APN |
9 |
90,070,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4495001:Adamts7
|
UTSW |
9 |
90,056,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Adamts7
|
UTSW |
9 |
90,053,641 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0078:Adamts7
|
UTSW |
9 |
90,061,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0107:Adamts7
|
UTSW |
9 |
90,062,773 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0122:Adamts7
|
UTSW |
9 |
90,061,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Adamts7
|
UTSW |
9 |
90,075,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0517:Adamts7
|
UTSW |
9 |
90,081,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1442:Adamts7
|
UTSW |
9 |
90,070,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1468:Adamts7
|
UTSW |
9 |
90,070,851 (GRCm39) |
splice site |
probably benign |
|
|
R1554:Adamts7
|
UTSW |
9 |
90,055,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1612:Adamts7
|
UTSW |
9 |
90,070,750 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1652:Adamts7
|
UTSW |
9 |
90,071,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2007:Adamts7
|
UTSW |
9 |
90,059,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Adamts7
|
UTSW |
9 |
90,070,493 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2202:Adamts7
|
UTSW |
9 |
90,062,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2204:Adamts7
|
UTSW |
9 |
90,062,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Adamts7
|
UTSW |
9 |
90,062,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2305:Adamts7
|
UTSW |
9 |
90,062,764 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2409:Adamts7
|
UTSW |
9 |
90,062,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4157:Adamts7
|
UTSW |
9 |
90,070,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Adamts7
|
UTSW |
9 |
90,076,063 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4368:Adamts7
|
UTSW |
9 |
90,077,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4533:Adamts7
|
UTSW |
9 |
90,062,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Adamts7
|
UTSW |
9 |
90,056,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Adamts7
|
UTSW |
9 |
90,068,515 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4661:Adamts7
|
UTSW |
9 |
90,075,383 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4820:Adamts7
|
UTSW |
9 |
90,071,739 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4942:Adamts7
|
UTSW |
9 |
90,045,364 (GRCm39) |
missense |
probably benign |
|
|
R4961:Adamts7
|
UTSW |
9 |
90,067,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5064:Adamts7
|
UTSW |
9 |
90,077,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Adamts7
|
UTSW |
9 |
90,070,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5921:Adamts7
|
UTSW |
9 |
90,070,747 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6027:Adamts7
|
UTSW |
9 |
90,073,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Adamts7
|
UTSW |
9 |
90,074,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6306:Adamts7
|
UTSW |
9 |
90,060,331 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6404:Adamts7
|
UTSW |
9 |
90,062,509 (GRCm39) |
splice site |
probably null |
|
|
R6488:Adamts7
|
UTSW |
9 |
90,053,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6649:Adamts7
|
UTSW |
9 |
90,073,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6658:Adamts7
|
UTSW |
9 |
90,077,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6874:Adamts7
|
UTSW |
9 |
90,070,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6947:Adamts7
|
UTSW |
9 |
90,073,857 (GRCm39) |
splice site |
probably null |
|
|
R7110:Adamts7
|
UTSW |
9 |
90,076,017 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7239:Adamts7
|
UTSW |
9 |
90,068,610 (GRCm39) |
splice site |
probably null |
|
|
R7519:Adamts7
|
UTSW |
9 |
90,079,132 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7608:Adamts7
|
UTSW |
9 |
90,055,826 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7635:Adamts7
|
UTSW |
9 |
90,077,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Adamts7
|
UTSW |
9 |
90,070,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Adamts7
|
UTSW |
9 |
90,075,610 (GRCm39) |
nonsense |
probably null |
|
|
R8680:Adamts7
|
UTSW |
9 |
90,077,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Adamts7
|
UTSW |
9 |
90,077,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8784:Adamts7
|
UTSW |
9 |
90,075,918 (GRCm39) |
missense |
probably null |
0.00 |
|
R8794:Adamts7
|
UTSW |
9 |
90,076,239 (GRCm39) |
nonsense |
probably null |
|
|
R8851:Adamts7
|
UTSW |
9 |
90,075,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9025:Adamts7
|
UTSW |
9 |
90,067,848 (GRCm39) |
nonsense |
probably null |
|
|
R9038:Adamts7
|
UTSW |
9 |
90,056,692 (GRCm39) |
missense |
|
|
|
R9101:Adamts7
|
UTSW |
9 |
90,071,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9256:Adamts7
|
UTSW |
9 |
90,060,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Adamts7
|
UTSW |
9 |
90,075,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9385:Adamts7
|
UTSW |
9 |
90,077,258 (GRCm39) |
nonsense |
probably null |
|
|
R9614:Adamts7
|
UTSW |
9 |
90,077,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Adamts7
|
UTSW |
9 |
90,060,270 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTTCTCACCAGGTTCACAAGTC -3'
(R):5'- CGGCCACAAGTCACATTAGG -3'
Sequencing Primer
(F):5'- ACCAGGTTCACAAGTCCTTCCTAG -3'
(R):5'- AGGTATTACCATGCCCCTTGAAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation