Incidental Mutation 'R0041:Adamts3'
ID |
201485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts3
|
Ensembl Gene |
ENSMUSG00000043635 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 3 |
Synonyms |
1100001H14Rik, 6330442E02Rik |
MMRRC Submission |
038335-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0041 (G1)
|
Quality Score |
30 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
89824946-90031193 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89832326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 927
(N927Y)
|
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: N926Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000058552 Gene: ENSMUSG00000043635 AA Change: N926Y
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 |
probably benign
Transcript: ENSMUST00000163159
AA Change: N927Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132219 Gene: ENSMUSG00000043635 AA Change: N927Y
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
Validation Efficiency |
97% (58/60) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
A |
G |
2: 26,873,986 (GRCm39) |
R412G |
probably damaging |
Het |
Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
Agpat3 |
C |
A |
10: 78,123,881 (GRCm39) |
|
probably benign |
Het |
AI182371 |
T |
A |
2: 34,975,733 (GRCm39) |
Q277L |
possibly damaging |
Het |
Arhgef15 |
A |
T |
11: 68,845,342 (GRCm39) |
L170Q |
possibly damaging |
Het |
Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
Bspry |
G |
C |
4: 62,404,791 (GRCm39) |
A196P |
probably damaging |
Het |
Cacna1c |
T |
A |
6: 118,570,988 (GRCm39) |
L2095F |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,874,651 (GRCm39) |
S908C |
probably damaging |
Het |
Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
Dynap |
A |
G |
18: 70,375,105 (GRCm39) |
S37P |
possibly damaging |
Het |
Efna5 |
A |
T |
17: 62,914,467 (GRCm39) |
|
probably benign |
Het |
Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
Fbxw16 |
T |
A |
9: 109,277,232 (GRCm39) |
S37C |
probably damaging |
Het |
Galnt4 |
A |
G |
10: 98,944,374 (GRCm39) |
Y33C |
probably benign |
Het |
Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
Krt71 |
C |
A |
15: 101,647,753 (GRCm39) |
E222D |
probably damaging |
Het |
Ltf |
T |
A |
9: 110,858,636 (GRCm39) |
D461E |
possibly damaging |
Het |
Mapk4 |
A |
T |
18: 74,068,109 (GRCm39) |
L274Q |
probably damaging |
Het |
Mbd6 |
A |
G |
10: 127,122,741 (GRCm39) |
C103R |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,321,030 (GRCm39) |
N2047S |
probably benign |
Het |
Nefh |
C |
T |
11: 4,895,184 (GRCm39) |
S335N |
possibly damaging |
Het |
Obscn |
G |
T |
11: 58,934,803 (GRCm39) |
H4715N |
probably damaging |
Het |
Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
Or6d13 |
G |
A |
6: 116,518,295 (GRCm39) |
V294I |
possibly damaging |
Het |
Or8g34 |
T |
A |
9: 39,372,772 (GRCm39) |
F12Y |
probably benign |
Het |
Pck1 |
A |
G |
2: 172,997,003 (GRCm39) |
E215G |
probably benign |
Het |
Peg12 |
T |
A |
7: 62,113,308 (GRCm39) |
E263V |
unknown |
Het |
Phkg1 |
T |
A |
5: 129,903,103 (GRCm39) |
T15S |
probably benign |
Het |
Plekhg1 |
T |
A |
10: 3,914,076 (GRCm39) |
L1120* |
probably null |
Het |
Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
Rnf112 |
T |
A |
11: 61,343,181 (GRCm39) |
R165W |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,293,401 (GRCm39) |
T51A |
probably benign |
Het |
Rnf220 |
A |
G |
4: 117,130,481 (GRCm39) |
L293P |
probably damaging |
Het |
Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,414,851 (GRCm39) |
V2087A |
probably benign |
Het |
Rpl7a |
A |
G |
2: 26,801,563 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
Skor1 |
T |
G |
9: 63,053,133 (GRCm39) |
T279P |
probably damaging |
Het |
Son |
A |
T |
16: 91,456,221 (GRCm39) |
E1656V |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
Treh |
T |
C |
9: 44,594,910 (GRCm39) |
V262A |
probably benign |
Het |
Trpm4 |
A |
G |
7: 44,954,370 (GRCm39) |
|
probably null |
Het |
Ugt8a |
T |
C |
3: 125,708,739 (GRCm39) |
I124V |
probably benign |
Het |
Wdr53 |
T |
C |
16: 32,075,473 (GRCm39) |
V226A |
probably damaging |
Het |
Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTTTGTCCCTACCACAAACGCTG -3'
(R):5'- CGCTGTCAGAAAGTTGTTCGCC -3'
Sequencing Primer
(F):5'- CGCTGTCTGAAAGTGTTAATTTTCC -3'
(R):5'- AAGTTGTTCGCCCATAATGTGC -3'
|
Posted On |
2014-06-13 |