Incidental Mutation 'R3813:Adamts3'
| ID |
274142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts3
|
| Ensembl Gene |
ENSMUSG00000043635 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 3 |
| Synonyms |
1100001H14Rik, 6330442E02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3813 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
89824946-90031193 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89825785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1018
(D1018G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061427]
[ENSMUST00000163159]
|
| AlphaFold |
E9Q287 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061427
AA Change: D1017G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: D1017G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
42 |
201 |
5.1e-40 |
PFAM |
|
Pfam:Reprolysin_5
|
254 |
439 |
5.4e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
256 |
454 |
1.9e-10 |
PFAM |
|
Pfam:Reprolysin
|
257 |
460 |
3.6e-22 |
PFAM |
|
Pfam:Reprolysin_2
|
274 |
451 |
7.7e-13 |
PFAM |
|
Pfam:Reprolysin_3
|
278 |
409 |
1.5e-12 |
PFAM |
|
TSP1
|
554 |
606 |
1.26e-15 |
SMART |
|
Pfam:ADAM_spacer1
|
713 |
827 |
3e-34 |
PFAM |
|
TSP1
|
848 |
905 |
4.35e-2 |
SMART |
|
TSP1
|
908 |
967 |
4.95e-2 |
SMART |
|
TSP1
|
969 |
1016 |
6.58e-5 |
SMART |
|
low complexity region
|
1114 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122551
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163159
AA Change: D1018G
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: D1018G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
43 |
201 |
1.5e-40 |
PFAM |
|
Pfam:Reprolysin_5
|
254 |
439 |
2.2e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
256 |
454 |
7.7e-11 |
PFAM |
|
Pfam:Reprolysin
|
257 |
460 |
3.7e-21 |
PFAM |
|
Pfam:Reprolysin_2
|
274 |
451 |
4.3e-14 |
PFAM |
|
Pfam:Reprolysin_3
|
278 |
409 |
1.3e-12 |
PFAM |
|
TSP1
|
554 |
606 |
1.26e-15 |
SMART |
|
Pfam:ADAM_spacer1
|
713 |
828 |
3.6e-28 |
PFAM |
|
TSP1
|
849 |
906 |
4.35e-2 |
SMART |
|
TSP1
|
909 |
968 |
4.95e-2 |
SMART |
|
TSP1
|
970 |
1017 |
6.58e-5 |
SMART |
|
low complexity region
|
1115 |
1129 |
N/A |
INTRINSIC |
|
low complexity region
|
1158 |
1178 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1221 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
A |
8: 95,738,193 (GRCm39) |
L562Q |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,618,117 (GRCm39) |
T1891A |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,267,831 (GRCm39) |
N648S |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,013,085 (GRCm39) |
I312F |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,790,679 (GRCm39) |
S457P |
probably benign |
Het |
| Cep120 |
G |
A |
18: 53,873,284 (GRCm39) |
|
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,471,190 (GRCm39) |
I493L |
possibly damaging |
Het |
| Cfap97d1 |
A |
T |
11: 101,882,314 (GRCm39) |
R106S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,655,209 (GRCm39) |
D31G |
possibly damaging |
Het |
| Cstf3 |
T |
C |
2: 104,439,466 (GRCm39) |
Y54H |
probably damaging |
Het |
| Cubn |
T |
A |
2: 13,299,136 (GRCm39) |
Y3179F |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,505,291 (GRCm39) |
|
probably null |
Het |
| Dll4 |
C |
A |
2: 119,161,510 (GRCm39) |
T364N |
possibly damaging |
Het |
| Doc2g |
C |
T |
19: 4,054,466 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
G |
2: 20,793,246 (GRCm39) |
E657G |
probably damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,371,577 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
| Gpat3 |
A |
G |
5: 101,039,505 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
A |
G |
17: 35,602,071 (GRCm39) |
H311R |
possibly damaging |
Het |
| Hipk4 |
T |
C |
7: 27,223,372 (GRCm39) |
L144S |
probably damaging |
Het |
| Hspa4 |
G |
A |
11: 53,161,806 (GRCm39) |
P449S |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,363,638 (GRCm39) |
V90A |
probably damaging |
Het |
| Klhl38 |
T |
C |
15: 58,185,953 (GRCm39) |
I259V |
probably benign |
Het |
| Krt9 |
T |
A |
11: 100,080,503 (GRCm39) |
E414D |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
| Manba |
G |
A |
3: 135,269,023 (GRCm39) |
E643K |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,090,799 (GRCm39) |
L7Q |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,057,453 (GRCm39) |
P788S |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,105 (GRCm39) |
F13S |
probably damaging |
Het |
| Or6c70 |
T |
A |
10: 129,709,855 (GRCm39) |
Y257F |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,416,667 (GRCm39) |
R153* |
probably null |
Het |
| Plk3 |
T |
C |
4: 116,990,647 (GRCm39) |
Y89C |
probably damaging |
Het |
| Prss41 |
G |
A |
17: 24,056,596 (GRCm39) |
R160* |
probably null |
Het |
| Rae1 |
T |
A |
2: 172,848,666 (GRCm39) |
|
probably benign |
Het |
| Rbm17 |
T |
A |
2: 11,600,246 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
A |
T |
15: 76,588,694 (GRCm39) |
M1039K |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slit3 |
A |
G |
11: 35,566,806 (GRCm39) |
Y1026C |
probably damaging |
Het |
| Tbl2 |
T |
A |
5: 135,185,375 (GRCm39) |
|
probably null |
Het |
| Tex2 |
G |
A |
11: 106,402,770 (GRCm39) |
T1034I |
unknown |
Het |
| Tmem241 |
A |
T |
18: 12,200,167 (GRCm39) |
|
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,256,389 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
| Trmt1 |
T |
A |
8: 85,421,846 (GRCm39) |
|
probably benign |
Het |
| Vps37d |
G |
A |
5: 135,103,304 (GRCm39) |
Q113* |
probably null |
Het |
| Zup1 |
T |
C |
10: 33,816,218 (GRCm39) |
E242G |
possibly damaging |
Het |
|
| Other mutations in Adamts3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Adamts3
|
APN |
5 |
90,009,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00340:Adamts3
|
APN |
5 |
89,849,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00923:Adamts3
|
APN |
5 |
89,832,235 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01420:Adamts3
|
APN |
5 |
89,850,916 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01522:Adamts3
|
APN |
5 |
89,850,802 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01676:Adamts3
|
APN |
5 |
90,029,402 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01676:Adamts3
|
APN |
5 |
89,825,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01678:Adamts3
|
APN |
5 |
89,855,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01936:Adamts3
|
APN |
5 |
90,009,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01956:Adamts3
|
APN |
5 |
89,825,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02342:Adamts3
|
APN |
5 |
89,839,332 (GRCm39) |
splice site |
probably null |
|
|
IGL02415:Adamts3
|
APN |
5 |
89,854,506 (GRCm39) |
splice site |
probably null |
|
|
IGL03261:Adamts3
|
APN |
5 |
90,030,756 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03301:Adamts3
|
APN |
5 |
89,855,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0041:Adamts3
|
UTSW |
5 |
89,832,326 (GRCm39) |
missense |
probably benign |
|
|
R0079:Adamts3
|
UTSW |
5 |
89,840,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0096:Adamts3
|
UTSW |
5 |
89,849,576 (GRCm39) |
nonsense |
probably null |
|
|
R0096:Adamts3
|
UTSW |
5 |
89,849,576 (GRCm39) |
nonsense |
probably null |
|
|
R0477:Adamts3
|
UTSW |
5 |
89,832,366 (GRCm39) |
missense |
probably benign |
|
|
R0605:Adamts3
|
UTSW |
5 |
90,009,334 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1036:Adamts3
|
UTSW |
5 |
89,843,952 (GRCm39) |
splice site |
probably benign |
|
|
R1462:Adamts3
|
UTSW |
5 |
90,009,208 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1462:Adamts3
|
UTSW |
5 |
90,009,208 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1621:Adamts3
|
UTSW |
5 |
89,869,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Adamts3
|
UTSW |
5 |
89,923,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2163:Adamts3
|
UTSW |
5 |
89,856,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2412:Adamts3
|
UTSW |
5 |
89,849,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2420:Adamts3
|
UTSW |
5 |
89,831,034 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2421:Adamts3
|
UTSW |
5 |
89,831,034 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2422:Adamts3
|
UTSW |
5 |
89,831,034 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2921:Adamts3
|
UTSW |
5 |
90,009,393 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2922:Adamts3
|
UTSW |
5 |
90,009,393 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2923:Adamts3
|
UTSW |
5 |
90,009,393 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3402:Adamts3
|
UTSW |
5 |
89,849,592 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3431:Adamts3
|
UTSW |
5 |
89,855,312 (GRCm39) |
splice site |
probably benign |
|
|
R3432:Adamts3
|
UTSW |
5 |
89,855,312 (GRCm39) |
splice site |
probably benign |
|
|
R3816:Adamts3
|
UTSW |
5 |
89,853,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3905:Adamts3
|
UTSW |
5 |
90,009,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3906:Adamts3
|
UTSW |
5 |
90,009,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Adamts3
|
UTSW |
5 |
90,009,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3908:Adamts3
|
UTSW |
5 |
90,009,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4557:Adamts3
|
UTSW |
5 |
89,848,346 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4684:Adamts3
|
UTSW |
5 |
89,850,866 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4844:Adamts3
|
UTSW |
5 |
89,825,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4925:Adamts3
|
UTSW |
5 |
89,832,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5097:Adamts3
|
UTSW |
5 |
89,840,909 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5100:Adamts3
|
UTSW |
5 |
89,856,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5237:Adamts3
|
UTSW |
5 |
89,923,236 (GRCm39) |
missense |
probably benign |
|
|
R5265:Adamts3
|
UTSW |
5 |
90,009,411 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5322:Adamts3
|
UTSW |
5 |
89,855,159 (GRCm39) |
splice site |
probably null |
|
|
R5413:Adamts3
|
UTSW |
5 |
89,856,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5459:Adamts3
|
UTSW |
5 |
89,839,332 (GRCm39) |
splice site |
probably null |
|
|
R5738:Adamts3
|
UTSW |
5 |
89,856,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Adamts3
|
UTSW |
5 |
90,009,528 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5992:Adamts3
|
UTSW |
5 |
89,839,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Adamts3
|
UTSW |
5 |
89,869,673 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6572:Adamts3
|
UTSW |
5 |
90,009,468 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7098:Adamts3
|
UTSW |
5 |
90,009,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Adamts3
|
UTSW |
5 |
90,030,860 (GRCm39) |
start gained |
probably benign |
|
|
R7263:Adamts3
|
UTSW |
5 |
89,825,601 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7401:Adamts3
|
UTSW |
5 |
89,855,309 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7599:Adamts3
|
UTSW |
5 |
90,009,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7829:Adamts3
|
UTSW |
5 |
90,009,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7835:Adamts3
|
UTSW |
5 |
89,848,299 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7892:Adamts3
|
UTSW |
5 |
90,009,288 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8021:Adamts3
|
UTSW |
5 |
89,831,043 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8289:Adamts3
|
UTSW |
5 |
89,923,282 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8350:Adamts3
|
UTSW |
5 |
89,850,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8468:Adamts3
|
UTSW |
5 |
89,842,627 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8827:Adamts3
|
UTSW |
5 |
89,839,324 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8864:Adamts3
|
UTSW |
5 |
89,854,981 (GRCm39) |
intron |
probably benign |
|
|
R8906:Adamts3
|
UTSW |
5 |
89,825,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9000:Adamts3
|
UTSW |
5 |
89,854,570 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9005:Adamts3
|
UTSW |
5 |
89,825,693 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9378:Adamts3
|
UTSW |
5 |
89,848,269 (GRCm39) |
nonsense |
probably null |
|
|
R9505:Adamts3
|
UTSW |
5 |
89,855,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Adamts3
|
UTSW |
5 |
89,834,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Adamts3
|
UTSW |
5 |
89,850,901 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1088:Adamts3
|
UTSW |
5 |
89,832,308 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Adamts3
|
UTSW |
5 |
89,923,210 (GRCm39) |
missense |
not run |
|
|
Z1177:Adamts3
|
UTSW |
5 |
89,923,210 (GRCm39) |
missense |
not run |
|
|
Z1177:Adamts3
|
UTSW |
5 |
89,855,723 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAAGATAGCATCACTGTGG -3'
(R):5'- ATAATGCAGTGAAGTCCTCCC -3'
Sequencing Primer
(F):5'- AGCATCACTGTGGATTTCAGCAG -3'
(R):5'- CTCAGCAGATAAGAGCTCTTCTGAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation