Incidental Mutation 'R7835:Adamts3'
| ID |
605906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts3
|
| Ensembl Gene |
ENSMUSG00000043635 |
| Gene Name |
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3 |
| Synonyms |
6330442E02Rik, 1100001H14Rik |
| MMRRC Submission |
045889-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
89677087-89883334 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89700440 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 674
(D674E)
|
| 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: D674E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058552
Gene: ENSMUSG00000043635
AA Change: D674E
| 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: D674E
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132219
Gene: ENSMUSG00000043635
AA Change: D674E
| 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 |
0.1029 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (48/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 79,099,875 (GRCm38) |
S1465T |
probably benign |
Het |
| Accsl |
T |
A |
2: 93,865,984 (GRCm38) |
K90* |
probably null |
Het |
| Adap2 |
T |
A |
11: 80,160,231 (GRCm38) |
V129D |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,987,727 (GRCm38) |
D742G |
|
Het |
| C1ra |
G |
A |
6: 124,517,725 (GRCm38) |
E316K |
probably benign |
Het |
| C330021F23Rik |
A |
G |
8: 3,580,452 (GRCm38) |
|
probably benign |
Het |
| Cachd1 |
G |
T |
4: 100,974,153 (GRCm38) |
|
probably null |
Het |
| Ccne1 |
G |
T |
7: 38,102,845 (GRCm38) |
Q133K |
probably benign |
Het |
| Cers3 |
C |
T |
7: 66,773,639 (GRCm38) |
H111Y |
possibly damaging |
Het |
| Chst5 |
A |
T |
8: 111,890,602 (GRCm38) |
L129M |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,728,185 (GRCm38) |
S164P |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,777,234 (GRCm38) |
A1966T |
probably damaging |
Het |
| Fam208a |
G |
T |
14: 27,476,643 (GRCm38) |
G1311C |
probably damaging |
Het |
| Fcgbp |
T |
G |
7: 28,117,207 (GRCm38) |
S2365A |
possibly damaging |
Het |
| Ihh |
A |
G |
1: 74,946,366 (GRCm38) |
V320A |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 900,558 (GRCm38) |
V201A |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 64,767,452 (GRCm38) |
H1117Q |
probably benign |
Het |
| Lcn8 |
C |
A |
2: 25,655,296 (GRCm38) |
|
probably null |
Het |
| Lrp4 |
T |
C |
2: 91,495,042 (GRCm38) |
V1404A |
possibly damaging |
Het |
| Lrrc61 |
A |
T |
6: 48,568,572 (GRCm38) |
T110S |
probably benign |
Het |
| Mrpl19 |
G |
A |
6: 81,962,126 (GRCm38) |
R232C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,809,303 (GRCm38) |
G2117A |
unknown |
Het |
| Mzt1 |
T |
C |
14: 99,046,003 (GRCm38) |
T21A |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,316,004 (GRCm38) |
A183E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,150,577 (GRCm38) |
D6624G |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,570,071 (GRCm38) |
D183G |
probably benign |
Het |
| Olfm5 |
A |
T |
7: 104,154,445 (GRCm38) |
Y195* |
probably null |
Het |
| Olfr828 |
T |
A |
9: 18,815,809 (GRCm38) |
M162L |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,082,945 (GRCm38) |
F1216I |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 109,624,195 (GRCm38) |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,915,142 (GRCm38) |
V135A |
probably benign |
Het |
| Ppcdc |
A |
G |
9: 57,420,276 (GRCm38) |
S83P |
probably benign |
Het |
| Prss21 |
A |
T |
17: 23,869,451 (GRCm38) |
Q130L |
possibly damaging |
Het |
| Rdx |
T |
A |
9: 52,065,788 (GRCm38) |
N112K |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,081,911 (GRCm38) |
|
probably null |
Het |
| Rps26 |
C |
T |
10: 128,626,126 (GRCm38) |
V40I |
probably benign |
Het |
| Runx2 |
A |
T |
17: 44,608,236 (GRCm38) |
M405K |
probably damaging |
Het |
| Serinc2 |
A |
C |
4: 130,275,487 (GRCm38) |
C4G |
unknown |
Het |
| Sh3rf2 |
C |
A |
18: 42,111,170 (GRCm38) |
R266S |
probably benign |
Het |
| Slc38a10 |
A |
G |
11: 120,116,996 (GRCm38) |
I386T |
possibly damaging |
Het |
| Stab2 |
G |
A |
10: 86,872,619 (GRCm38) |
P1694L |
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,932,029 (GRCm38) |
T682M |
probably damaging |
Het |
| Tmem102 |
A |
G |
11: 69,804,345 (GRCm38) |
V267A |
probably damaging |
Het |
| Trim65 |
A |
G |
11: 116,130,929 (GRCm38) |
L26P |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,871,954 (GRCm38) |
M244K |
possibly damaging |
Het |
| Vmn1r57 |
A |
T |
7: 5,221,139 (GRCm38) |
H221L |
probably benign |
Het |
| Wdr89 |
C |
A |
12: 75,632,899 (GRCm38) |
V194F |
probably damaging |
Het |
| Wee1 |
C |
A |
7: 110,130,878 (GRCm38) |
Y396* |
probably null |
Het |
| Zfp451 |
A |
T |
1: 33,772,979 (GRCm38) |
V885D |
probably damaging |
Het |
| Zfp981 |
A |
T |
4: 146,537,876 (GRCm38) |
Q419H |
probably benign |
Het |
| Znfx1 |
A |
G |
2: 167,039,827 (GRCm38) |
Y1081H |
probably damaging |
Het |
|
| Other mutations in Adamts3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Adamts3
|
APN |
5 |
89,861,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00340:Adamts3
|
APN |
5 |
89,701,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00923:Adamts3
|
APN |
5 |
89,684,376 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01420:Adamts3
|
APN |
5 |
89,703,057 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
IGL01522:Adamts3
|
APN |
5 |
89,702,943 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL01676:Adamts3
|
APN |
5 |
89,881,543 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL01676:Adamts3
|
APN |
5 |
89,677,754 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01678:Adamts3
|
APN |
5 |
89,707,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01936:Adamts3
|
APN |
5 |
89,861,423 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01956:Adamts3
|
APN |
5 |
89,677,911 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02342:Adamts3
|
APN |
5 |
89,691,473 (GRCm38) |
splice site |
probably null |
|
|
IGL02415:Adamts3
|
APN |
5 |
89,706,647 (GRCm38) |
splice site |
probably null |
|
|
IGL03261:Adamts3
|
APN |
5 |
89,882,897 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL03301:Adamts3
|
APN |
5 |
89,707,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0041:Adamts3
|
UTSW |
5 |
89,684,467 (GRCm38) |
missense |
probably benign |
|
|
R0079:Adamts3
|
UTSW |
5 |
89,693,053 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0096:Adamts3
|
UTSW |
5 |
89,701,717 (GRCm38) |
nonsense |
probably null |
|
|
R0096:Adamts3
|
UTSW |
5 |
89,701,717 (GRCm38) |
nonsense |
probably null |
|
|
R0477:Adamts3
|
UTSW |
5 |
89,684,507 (GRCm38) |
missense |
probably benign |
|
|
R0605:Adamts3
|
UTSW |
5 |
89,861,475 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R1036:Adamts3
|
UTSW |
5 |
89,696,093 (GRCm38) |
splice site |
probably benign |
|
|
R1462:Adamts3
|
UTSW |
5 |
89,861,349 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1462:Adamts3
|
UTSW |
5 |
89,861,349 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1621:Adamts3
|
UTSW |
5 |
89,721,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1799:Adamts3
|
UTSW |
5 |
89,775,421 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2163:Adamts3
|
UTSW |
5 |
89,708,718 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2412:Adamts3
|
UTSW |
5 |
89,701,771 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2420:Adamts3
|
UTSW |
5 |
89,683,175 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2421:Adamts3
|
UTSW |
5 |
89,683,175 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2422:Adamts3
|
UTSW |
5 |
89,683,175 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2921:Adamts3
|
UTSW |
5 |
89,861,534 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2922:Adamts3
|
UTSW |
5 |
89,861,534 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2923:Adamts3
|
UTSW |
5 |
89,861,534 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3402:Adamts3
|
UTSW |
5 |
89,701,733 (GRCm38) |
missense |
probably benign |
0.04 |
|
R3431:Adamts3
|
UTSW |
5 |
89,707,453 (GRCm38) |
splice site |
probably benign |
|
|
R3432:Adamts3
|
UTSW |
5 |
89,707,453 (GRCm38) |
splice site |
probably benign |
|
|
R3813:Adamts3
|
UTSW |
5 |
89,677,926 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R3816:Adamts3
|
UTSW |
5 |
89,705,264 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3905:Adamts3
|
UTSW |
5 |
89,861,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3906:Adamts3
|
UTSW |
5 |
89,861,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3907:Adamts3
|
UTSW |
5 |
89,861,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3908:Adamts3
|
UTSW |
5 |
89,861,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4557:Adamts3
|
UTSW |
5 |
89,700,487 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4684:Adamts3
|
UTSW |
5 |
89,703,007 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4844:Adamts3
|
UTSW |
5 |
89,677,816 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4925:Adamts3
|
UTSW |
5 |
89,684,323 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5097:Adamts3
|
UTSW |
5 |
89,693,050 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5100:Adamts3
|
UTSW |
5 |
89,708,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5237:Adamts3
|
UTSW |
5 |
89,775,377 (GRCm38) |
missense |
probably benign |
|
|
R5265:Adamts3
|
UTSW |
5 |
89,861,552 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5322:Adamts3
|
UTSW |
5 |
89,707,300 (GRCm38) |
splice site |
probably null |
|
|
R5413:Adamts3
|
UTSW |
5 |
89,708,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5459:Adamts3
|
UTSW |
5 |
89,691,473 (GRCm38) |
splice site |
probably null |
|
|
R5738:Adamts3
|
UTSW |
5 |
89,708,668 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5979:Adamts3
|
UTSW |
5 |
89,861,669 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5992:Adamts3
|
UTSW |
5 |
89,691,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6364:Adamts3
|
UTSW |
5 |
89,721,814 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6572:Adamts3
|
UTSW |
5 |
89,861,609 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7098:Adamts3
|
UTSW |
5 |
89,861,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7172:Adamts3
|
UTSW |
5 |
89,883,001 (GRCm38) |
start gained |
probably benign |
|
|
R7263:Adamts3
|
UTSW |
5 |
89,677,742 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7401:Adamts3
|
UTSW |
5 |
89,707,450 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7599:Adamts3
|
UTSW |
5 |
89,861,397 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7829:Adamts3
|
UTSW |
5 |
89,861,490 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7892:Adamts3
|
UTSW |
5 |
89,861,429 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8021:Adamts3
|
UTSW |
5 |
89,683,184 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R8289:Adamts3
|
UTSW |
5 |
89,775,423 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8350:Adamts3
|
UTSW |
5 |
89,702,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8468:Adamts3
|
UTSW |
5 |
89,694,768 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8827:Adamts3
|
UTSW |
5 |
89,691,465 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8864:Adamts3
|
UTSW |
5 |
89,707,122 (GRCm38) |
intron |
probably benign |
|
|
R8906:Adamts3
|
UTSW |
5 |
89,677,716 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9000:Adamts3
|
UTSW |
5 |
89,706,711 (GRCm38) |
missense |
probably benign |
0.17 |
|
R9005:Adamts3
|
UTSW |
5 |
89,677,834 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9378:Adamts3
|
UTSW |
5 |
89,700,410 (GRCm38) |
nonsense |
probably null |
|
|
R9505:Adamts3
|
UTSW |
5 |
89,707,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9516:Adamts3
|
UTSW |
5 |
89,686,891 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0064:Adamts3
|
UTSW |
5 |
89,703,042 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
Z1088:Adamts3
|
UTSW |
5 |
89,684,449 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Adamts3
|
UTSW |
5 |
89,775,351 (GRCm38) |
missense |
not run |
|
|
Z1177:Adamts3
|
UTSW |
5 |
89,775,351 (GRCm38) |
missense |
not run |
|
|
Z1177:Adamts3
|
UTSW |
5 |
89,707,864 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGGGGATGCTACAGGATAC -3'
(R):5'- TACAAAGATGCATGGTGGCG -3'
Sequencing Primer
(F):5'- ATACTGGGGATGCTGGGG -3'
(R):5'- AAGATGCATGGTGGCGTATCTATAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation