Incidental Mutation 'R0096:Adamts3'
ID |
64057 |
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 |
038382-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0096 (G1)
|
Quality Score |
101 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
89824946-90031193 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 89849576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 615
(Q615*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132219
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061427]
[ENSMUST00000163159]
|
AlphaFold |
E9Q287 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061427
AA Change: Q615*
|
SMART Domains |
Protein: ENSMUSP00000058552 Gene: ENSMUSG00000043635 AA Change: Q615*
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 |
probably null
Transcript: ENSMUST00000163159
AA Change: Q615*
|
SMART Domains |
Protein: ENSMUSP00000132219 Gene: ENSMUSG00000043635 AA Change: Q615*
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 |
0.9754 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.5%
|
Validation Efficiency |
100% (69/69) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
Anks1b |
T |
C |
10: 89,909,924 (GRCm39) |
S48P |
possibly damaging |
Het |
Aoc1l2 |
A |
C |
6: 48,908,122 (GRCm39) |
Q374P |
probably damaging |
Het |
Arfip2 |
T |
A |
7: 105,287,437 (GRCm39) |
K94N |
probably damaging |
Het |
Arhgap42 |
G |
T |
9: 9,009,314 (GRCm39) |
N524K |
probably damaging |
Het |
Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
Arid4b |
T |
C |
13: 14,303,779 (GRCm39) |
V68A |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
Capn3 |
A |
T |
2: 120,333,010 (GRCm39) |
H592L |
possibly damaging |
Het |
Dglucy |
A |
T |
12: 100,804,910 (GRCm39) |
I134F |
possibly damaging |
Het |
Dhh |
T |
A |
15: 98,791,869 (GRCm39) |
M380L |
probably benign |
Het |
Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
Dthd1 |
A |
T |
5: 63,000,383 (GRCm39) |
R568S |
possibly damaging |
Het |
Efr3a |
A |
G |
15: 65,727,290 (GRCm39) |
N613S |
probably damaging |
Het |
Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
Fam120c |
CCAGCAGCAGCAGCAGCA |
CCAGCAGCAGCAGCA |
X: 150,127,341 (GRCm39) |
|
probably benign |
Het |
Fbrs |
C |
T |
7: 127,088,659 (GRCm39) |
A145V |
probably damaging |
Het |
Gm4736 |
T |
C |
6: 132,092,569 (GRCm39) |
|
noncoding transcript |
Het |
Gm9873 |
A |
T |
2: 168,863,029 (GRCm39) |
|
noncoding transcript |
Het |
Grik1 |
T |
C |
16: 87,831,114 (GRCm39) |
M219V |
possibly damaging |
Het |
Gtsf1l |
C |
T |
2: 162,929,456 (GRCm39) |
C9Y |
probably damaging |
Het |
Itih5 |
G |
A |
2: 10,256,189 (GRCm39) |
R885Q |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,275,580 (GRCm39) |
E752G |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
Lama1 |
T |
A |
17: 68,112,408 (GRCm39) |
F2283I |
probably benign |
Het |
Luc7l3 |
A |
G |
11: 94,192,320 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
Map1a |
A |
G |
2: 121,131,986 (GRCm39) |
E696G |
probably damaging |
Het |
Mrps34 |
A |
G |
17: 25,114,643 (GRCm39) |
D110G |
probably damaging |
Het |
Myh11 |
T |
A |
16: 14,022,231 (GRCm39) |
K1710M |
possibly damaging |
Het |
Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
Nos1ap |
T |
C |
1: 170,156,816 (GRCm39) |
D214G |
probably damaging |
Het |
Or4c119 |
A |
T |
2: 88,986,640 (GRCm39) |
M293K |
probably benign |
Het |
Or8b46 |
A |
T |
9: 38,450,832 (GRCm39) |
I214F |
probably damaging |
Het |
Pate4 |
T |
G |
9: 35,523,130 (GRCm39) |
T5P |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,237,940 (GRCm39) |
|
probably benign |
Het |
Samd4 |
A |
T |
14: 47,301,754 (GRCm39) |
M252L |
possibly damaging |
Het |
Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
Sis |
A |
T |
3: 72,835,600 (GRCm39) |
W921R |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,454,965 (GRCm39) |
|
probably benign |
Het |
Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,045,528 (GRCm39) |
Q31K |
probably damaging |
Het |
Taar7f |
A |
G |
10: 23,926,152 (GRCm39) |
M249V |
probably benign |
Het |
Tarm1 |
T |
C |
7: 3,546,067 (GRCm39) |
T79A |
probably benign |
Het |
Tektl1 |
T |
A |
10: 78,584,539 (GRCm39) |
I328L |
probably benign |
Het |
Trf |
A |
G |
9: 103,099,358 (GRCm39) |
F300L |
probably damaging |
Het |
Vmn1r69 |
T |
A |
7: 10,313,985 (GRCm39) |
I170F |
probably damaging |
Het |
Vmn2r105 |
A |
G |
17: 20,447,741 (GRCm39) |
F361S |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,686,527 (GRCm39) |
Y636C |
probably damaging |
Het |
Wdr59 |
T |
C |
8: 112,231,005 (GRCm39) |
N68D |
probably damaging |
Het |
Zfp345 |
T |
A |
2: 150,314,220 (GRCm39) |
H439L |
probably 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 |
|
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'- AATGCCTGGCCTCTCTAAGTACCC -3'
(R):5'- ACCCTAGACATTGGAAGGACAGCAC -3'
Sequencing Primer
(F):5'- TTATGTTACCACATAGGCGGGAC -3'
(R):5'- GACAGCACCATTCAGCTTGTG -3'
|
Posted On |
2013-08-06 |