Incidental Mutation 'IGL01420:Adamts3'
| ID |
80390 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
89824946-90031193 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89850916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 541
(M541K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061427]
[ENSMUST00000163159]
|
| AlphaFold |
E9Q287 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061427
AA Change: M541K
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: M541K
| 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 |
possibly damaging
Transcript: ENSMUST00000163159
AA Change: M541K
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: M541K
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,920,637 (GRCm39) |
|
probably benign |
Het |
| Actr6 |
A |
T |
10: 89,561,027 (GRCm39) |
|
probably benign |
Het |
| Adgre4 |
T |
C |
17: 56,106,785 (GRCm39) |
|
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,883,189 (GRCm39) |
Y481C |
probably damaging |
Het |
| Apbb1ip |
A |
T |
2: 22,748,292 (GRCm39) |
I371F |
possibly damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,297,649 (GRCm39) |
D261G |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,609,342 (GRCm39) |
H28R |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,104,065 (GRCm39) |
V2026A |
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,773,595 (GRCm39) |
V1697I |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,301,079 (GRCm39) |
H2738R |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,718,389 (GRCm39) |
|
probably null |
Het |
| Cep152 |
A |
T |
2: 125,405,572 (GRCm39) |
D1653E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,470,137 (GRCm39) |
I248F |
probably benign |
Het |
| Clcnka |
C |
A |
4: 141,116,643 (GRCm39) |
R536L |
probably benign |
Het |
| Dao |
T |
A |
5: 114,161,881 (GRCm39) |
|
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,175,367 (GRCm39) |
S585P |
possibly damaging |
Het |
| Dysf |
C |
T |
6: 84,126,741 (GRCm39) |
Q1333* |
probably null |
Het |
| Eps8l2 |
T |
A |
7: 140,937,576 (GRCm39) |
S397T |
probably benign |
Het |
| Fap |
A |
G |
2: 62,334,846 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,036,822 (GRCm39) |
T971A |
probably benign |
Het |
| Fbxl17 |
C |
T |
17: 63,692,047 (GRCm39) |
V22M |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,839,558 (GRCm39) |
M457K |
probably benign |
Het |
| Fundc2 |
T |
C |
X: 74,434,471 (GRCm39) |
|
probably benign |
Het |
| Heyl |
C |
A |
4: 123,133,967 (GRCm39) |
Q42K |
probably damaging |
Het |
| Hyal4 |
A |
G |
6: 24,755,871 (GRCm39) |
K30E |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,071 (GRCm39) |
I2201V |
probably benign |
Het |
| Il34 |
T |
C |
8: 111,469,345 (GRCm39) |
K157E |
probably damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,316,766 (GRCm39) |
T116A |
probably damaging |
Het |
| Lpl |
T |
C |
8: 69,340,085 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
A |
G |
1: 128,273,612 (GRCm39) |
L406P |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,960,027 (GRCm39) |
R328H |
probably damaging |
Het |
| Nadk2 |
T |
C |
15: 9,103,072 (GRCm39) |
S308P |
probably damaging |
Het |
| Nae1 |
G |
T |
8: 105,249,797 (GRCm39) |
Q225K |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,249,507 (GRCm39) |
P1266S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,047,389 (GRCm39) |
Y6485H |
probably damaging |
Het |
| Nin |
G |
A |
12: 70,092,188 (GRCm39) |
A707V |
probably benign |
Het |
| Nmur1 |
T |
C |
1: 86,315,113 (GRCm39) |
T218A |
probably benign |
Het |
| Npr3 |
T |
C |
15: 11,858,718 (GRCm39) |
N135D |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,620,926 (GRCm39) |
L142Q |
probably damaging |
Het |
| Pdgfc |
T |
A |
3: 81,048,750 (GRCm39) |
S53T |
probably benign |
Het |
| Plxdc2 |
T |
A |
2: 16,654,950 (GRCm39) |
V232D |
probably damaging |
Het |
| Pou2f2 |
T |
C |
7: 24,792,377 (GRCm39) |
N493D |
possibly damaging |
Het |
| Rtel1 |
T |
C |
2: 180,996,194 (GRCm39) |
I750T |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 125,891,184 (GRCm39) |
|
probably null |
Het |
| Sec24d |
A |
G |
3: 123,143,658 (GRCm39) |
N603S |
probably benign |
Het |
| Slc38a10 |
T |
A |
11: 119,997,286 (GRCm39) |
E736V |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,341,659 (GRCm39) |
Y559C |
probably benign |
Het |
| Sprr4 |
A |
T |
3: 92,407,691 (GRCm39) |
V37E |
unknown |
Het |
| Sptbn2 |
A |
G |
19: 4,784,153 (GRCm39) |
T632A |
probably benign |
Het |
| Trim31 |
A |
G |
17: 37,209,303 (GRCm39) |
M20V |
probably benign |
Het |
| Trim65 |
C |
A |
11: 116,017,335 (GRCm39) |
V376L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,542,420 (GRCm39) |
D25195G |
probably damaging |
Het |
| Tysnd1 |
A |
G |
10: 61,537,830 (GRCm39) |
T503A |
possibly damaging |
Het |
| Vtn |
A |
T |
11: 78,390,200 (GRCm39) |
I9L |
probably benign |
Het |
| Zfp398 |
A |
G |
6: 47,842,868 (GRCm39) |
M175V |
probably benign |
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 |
|
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 |
|
|
R3813:Adamts3
|
UTSW |
5 |
89,825,785 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
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 |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation