Incidental Mutation 'R8684:Adamts4'
| ID |
661926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts4
|
| Ensembl Gene |
ENSMUSG00000006403 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 4 |
| Synonyms |
aggrecanase-1, ADAM-TS4 |
| MMRRC Submission |
068539-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8684 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171077990-171088206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 171086541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 778
(T778S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111314]
[ENSMUST00000111315]
[ENSMUST00000219033]
|
| AlphaFold |
Q8BNJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111314
AA Change: T581S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403
AA Change: T581S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
27 |
214 |
1.8e-12 |
PFAM |
|
Pfam:Reprolysin
|
29 |
239 |
1e-19 |
PFAM |
|
Pfam:Reprolysin_4
|
33 |
235 |
1.2e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
50 |
183 |
5.4e-12 |
PFAM |
|
Pfam:Reprolysin_2
|
50 |
229 |
1.9e-9 |
PFAM |
|
Blast:ACR
|
240 |
319 |
4e-24 |
BLAST |
|
TSP1
|
334 |
386 |
3.52e-14 |
SMART |
|
Pfam:ADAM_spacer1
|
497 |
614 |
5.2e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111315
AA Change: T766S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: T766S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
49 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
54 |
177 |
5.6e-17 |
PFAM |
|
Pfam:Reprolysin_5
|
212 |
399 |
6.5e-12 |
PFAM |
|
Pfam:Reprolysin
|
214 |
424 |
4.6e-19 |
PFAM |
|
Pfam:Reprolysin_4
|
219 |
420 |
4.6e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
235 |
368 |
1.9e-11 |
PFAM |
|
Pfam:Reprolysin_2
|
236 |
414 |
7.2e-9 |
PFAM |
|
Blast:ACR
|
425 |
504 |
4e-24 |
BLAST |
|
TSP1
|
519 |
571 |
3.52e-14 |
SMART |
|
Pfam:ADAM_spacer1
|
682 |
799 |
1.8e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219033
AA Change: T778S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active zinc-dependent aggrecanase enzyme that degrades cartilage. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutant mice do not exhibit any morphological abnormalities. However, they do display impaired coordination and an increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
C |
T |
7: 42,097,413 (GRCm39) |
R27H |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,336,508 (GRCm39) |
L2229Q |
possibly damaging |
Het |
| AY358078 |
T |
G |
14: 52,059,597 (GRCm39) |
Y311* |
probably null |
Het |
| Catsperg1 |
C |
T |
7: 28,897,825 (GRCm39) |
V181M |
probably damaging |
Het |
| Cdcp3 |
C |
A |
7: 130,837,688 (GRCm39) |
S528* |
probably null |
Het |
| Cep70 |
A |
G |
9: 99,145,842 (GRCm39) |
K170E |
possibly damaging |
Het |
| Coro1b |
T |
A |
19: 4,199,527 (GRCm39) |
V62E |
probably damaging |
Het |
| Dnajc11 |
T |
C |
4: 152,065,183 (GRCm39) |
*560Q |
probably null |
Het |
| Eci3 |
T |
C |
13: 35,143,874 (GRCm39) |
N84D |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,045,111 (GRCm39) |
V2133E |
probably benign |
Het |
| Fancl |
C |
A |
11: 26,420,826 (GRCm39) |
P116Q |
|
Het |
| Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
C |
T |
16: 36,734,764 (GRCm39) |
T1378M |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,147 (GRCm39) |
N342S |
probably benign |
Het |
| Herc3 |
A |
G |
6: 58,864,561 (GRCm39) |
K732E |
probably damaging |
Het |
| Lce1e |
A |
T |
3: 92,615,269 (GRCm39) |
I26N |
unknown |
Het |
| Lingo1 |
T |
C |
9: 56,528,106 (GRCm39) |
Y167C |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,012,566 (GRCm39) |
E35G |
probably benign |
Het |
| Mmp13 |
A |
G |
9: 7,282,089 (GRCm39) |
M464V |
possibly damaging |
Het |
| Mov10 |
T |
C |
3: 104,711,690 (GRCm39) |
H199R |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,386,368 (GRCm39) |
T765A |
probably damaging |
Het |
| Nlgn3 |
C |
T |
X: 100,363,425 (GRCm39) |
R679* |
probably null |
Het |
| Nrp1 |
C |
T |
8: 129,085,885 (GRCm39) |
|
probably benign |
Het |
| Nup88 |
C |
A |
11: 70,860,687 (GRCm39) |
V31L |
probably benign |
Het |
| Or2r11 |
T |
C |
6: 42,437,827 (GRCm39) |
N42S |
probably damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,872 (GRCm39) |
T164A |
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,820,212 (GRCm39) |
D196V |
probably benign |
Het |
| Pah |
A |
G |
10: 87,414,827 (GRCm39) |
N393S |
probably benign |
Het |
| Peli3 |
T |
C |
19: 4,985,022 (GRCm39) |
Y163C |
probably damaging |
Het |
| Rasgef1b |
A |
T |
5: 99,524,994 (GRCm39) |
M55K |
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,264,302 (GRCm39) |
D930G |
possibly damaging |
Het |
| Rpgrip1l |
T |
G |
8: 92,000,329 (GRCm39) |
M537L |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,702,875 (GRCm39) |
V2871E |
probably damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,841 (GRCm39) |
N171Y |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sox2 |
T |
A |
3: 34,705,016 (GRCm39) |
L151Q |
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,305 (GRCm39) |
E754G |
probably benign |
Het |
| Sulf1 |
A |
T |
1: 12,867,004 (GRCm39) |
M63L |
probably benign |
Het |
| Traf2 |
A |
G |
2: 25,410,458 (GRCm39) |
M390T |
probably damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,310,266 (GRCm39) |
V16A |
probably damaging |
Het |
| Trmo |
C |
T |
4: 46,386,251 (GRCm39) |
W84* |
probably null |
Het |
| Trmo |
T |
C |
4: 46,386,253 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
T |
A |
7: 4,133,791 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,643,220 (GRCm39) |
N4194S |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,486,511 (GRCm39) |
Y259C |
probably damaging |
Het |
| Vmn2r94 |
T |
A |
17: 18,497,912 (GRCm39) |
|
probably benign |
Het |
| Zfp101 |
A |
G |
17: 33,600,977 (GRCm39) |
S260P |
possibly damaging |
Het |
|
| Other mutations in Adamts4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Adamts4
|
APN |
1 |
171,080,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02496:Adamts4
|
APN |
1 |
171,078,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02510:Adamts4
|
APN |
1 |
171,078,959 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02695:Adamts4
|
APN |
1 |
171,080,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02952:Adamts4
|
APN |
1 |
171,078,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Adamts4
|
APN |
1 |
171,078,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:Adamts4
|
APN |
1 |
171,080,438 (GRCm39) |
splice site |
probably benign |
|
|
PIT4305001:Adamts4
|
UTSW |
1 |
171,086,610 (GRCm39) |
missense |
probably benign |
|
|
R0331:Adamts4
|
UTSW |
1 |
171,078,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1302:Adamts4
|
UTSW |
1 |
171,080,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Adamts4
|
UTSW |
1 |
171,084,009 (GRCm39) |
splice site |
probably benign |
|
|
R1502:Adamts4
|
UTSW |
1 |
171,086,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Adamts4
|
UTSW |
1 |
171,080,311 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1815:Adamts4
|
UTSW |
1 |
171,083,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1982:Adamts4
|
UTSW |
1 |
171,086,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1986:Adamts4
|
UTSW |
1 |
171,084,244 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2281:Adamts4
|
UTSW |
1 |
171,083,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4261:Adamts4
|
UTSW |
1 |
171,086,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4750:Adamts4
|
UTSW |
1 |
171,078,635 (GRCm39) |
missense |
probably benign |
|
|
R4868:Adamts4
|
UTSW |
1 |
171,080,000 (GRCm39) |
intron |
probably benign |
|
|
R4924:Adamts4
|
UTSW |
1 |
171,086,643 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5418:Adamts4
|
UTSW |
1 |
171,080,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Adamts4
|
UTSW |
1 |
171,080,178 (GRCm39) |
missense |
probably benign |
|
|
R5566:Adamts4
|
UTSW |
1 |
171,078,419 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
R5781:Adamts4
|
UTSW |
1 |
171,078,584 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6043:Adamts4
|
UTSW |
1 |
171,080,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Adamts4
|
UTSW |
1 |
171,080,284 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6187:Adamts4
|
UTSW |
1 |
171,078,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6614:Adamts4
|
UTSW |
1 |
171,084,193 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6976:Adamts4
|
UTSW |
1 |
171,079,877 (GRCm39) |
intron |
probably benign |
|
|
R7291:Adamts4
|
UTSW |
1 |
171,084,097 (GRCm39) |
missense |
probably benign |
|
|
R7363:Adamts4
|
UTSW |
1 |
171,086,608 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7490:Adamts4
|
UTSW |
1 |
171,084,169 (GRCm39) |
nonsense |
probably null |
|
|
R7797:Adamts4
|
UTSW |
1 |
171,085,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Adamts4
|
UTSW |
1 |
171,080,292 (GRCm39) |
missense |
|
|
|
R8408:Adamts4
|
UTSW |
1 |
171,080,314 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9541:Adamts4
|
UTSW |
1 |
171,084,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Adamts4
|
UTSW |
1 |
171,081,530 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9760:Adamts4
|
UTSW |
1 |
171,086,334 (GRCm39) |
missense |
probably benign |
|
|
X0062:Adamts4
|
UTSW |
1 |
171,084,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Adamts4
|
UTSW |
1 |
171,086,353 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1176:Adamts4
|
UTSW |
1 |
171,086,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACCCATATCCTTGTACG -3'
(R):5'- GGACAGTGAGGTTATTTCCGGC -3'
Sequencing Primer
(F):5'- ATATCCTTGTACGGCAGCAG -3'
(R):5'- GAGGTTATTTCCGGCCTGCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation