Incidental Mutation 'R6614:Adamts4'
| ID |
523822 |
| 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 |
044737-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6614 (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 G
at 171084193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 557
(R557G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111314]
[ENSMUST00000111315]
[ENSMUST00000219033]
|
| AlphaFold |
Q8BNJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111314
AA Change: R360G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403
AA Change: R360G
| 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 benign
Transcript: ENSMUST00000111315
AA Change: R545G
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: R545G
| 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 benign
Transcript: ENSMUST00000219033
AA Change: R557G
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0844 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
T |
A |
8: 125,587,986 (GRCm39) |
|
probably null |
Het |
| Abca13 |
A |
T |
11: 9,244,371 (GRCm39) |
N2078I |
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,807,800 (GRCm39) |
I814V |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,095,899 (GRCm39) |
I70N |
probably benign |
Het |
| Bysl |
A |
T |
17: 47,912,767 (GRCm39) |
L341Q |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,266,803 (GRCm39) |
G41D |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,850,411 (GRCm39) |
D4221G |
possibly damaging |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,470,349 (GRCm39) |
|
probably null |
Het |
| Elavl1 |
C |
A |
8: 4,339,818 (GRCm39) |
A255S |
probably damaging |
Het |
| Filip1 |
C |
T |
9: 79,723,121 (GRCm39) |
G1166D |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,454,235 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ifit3b |
A |
T |
19: 34,588,919 (GRCm39) |
S32C |
probably benign |
Het |
| Kcnh7 |
T |
G |
2: 62,607,940 (GRCm39) |
Y547S |
probably damaging |
Het |
| Lima1 |
G |
A |
15: 99,681,461 (GRCm39) |
A243V |
probably damaging |
Het |
| Mast3 |
T |
A |
8: 71,234,610 (GRCm39) |
I67F |
possibly damaging |
Het |
| Ncor1 |
A |
C |
11: 62,221,645 (GRCm39) |
M1283R |
probably benign |
Het |
| Ndufv1 |
G |
A |
19: 4,058,749 (GRCm39) |
T253I |
probably benign |
Het |
| Neurog1 |
G |
T |
13: 56,399,637 (GRCm39) |
Q37K |
probably benign |
Het |
| Nol4 |
T |
G |
18: 23,053,913 (GRCm39) |
K200Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,903,627 (GRCm39) |
H7599R |
probably benign |
Het |
| Oog4 |
A |
G |
4: 143,164,445 (GRCm39) |
V362A |
possibly damaging |
Het |
| Oosp1 |
T |
A |
19: 11,668,314 (GRCm39) |
D23V |
probably damaging |
Het |
| Or11a4 |
T |
C |
17: 37,536,790 (GRCm39) |
V258A |
probably benign |
Het |
| Or11g24 |
C |
T |
14: 50,662,546 (GRCm39) |
T190I |
probably benign |
Het |
| Or4k1 |
T |
A |
14: 50,377,821 (GRCm39) |
I92F |
probably damaging |
Het |
| Or4n4b |
T |
A |
14: 50,536,494 (GRCm39) |
I91L |
probably benign |
Het |
| Or7a41 |
C |
A |
10: 78,870,925 (GRCm39) |
C98* |
probably null |
Het |
| P2rx3 |
A |
G |
2: 84,865,543 (GRCm39) |
I34T |
probably damaging |
Het |
| Pate7 |
A |
G |
9: 35,688,421 (GRCm39) |
W55R |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,717,986 (GRCm39) |
V621E |
probably benign |
Het |
| Prpf39 |
T |
G |
12: 65,089,337 (GRCm39) |
V25G |
probably benign |
Het |
| Psd |
T |
C |
19: 46,301,851 (GRCm39) |
K913E |
probably benign |
Het |
| Ptx4 |
A |
T |
17: 25,341,676 (GRCm39) |
R50S |
possibly damaging |
Het |
| Rex2 |
A |
T |
4: 147,137,018 (GRCm39) |
M16L |
probably benign |
Het |
| Serac1 |
A |
T |
17: 6,095,937 (GRCm39) |
V604E |
probably damaging |
Het |
| Sp140l2 |
A |
C |
1: 85,179,781 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
A |
10: 82,127,482 (GRCm39) |
N1843Y |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stxbp6 |
T |
A |
12: 44,908,058 (GRCm39) |
T187S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,607,108 (GRCm39) |
C215Y |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,407,142 (GRCm38) |
K671* |
probably null |
Het |
| Trmt1 |
G |
T |
8: 85,415,962 (GRCm39) |
V7L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,615,174 (GRCm39) |
R15102H |
probably benign |
Het |
| Unc79 |
A |
T |
12: 102,957,689 (GRCm39) |
I35F |
probably 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 |
|
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 |
|
R8684:Adamts4
|
UTSW |
1 |
171,086,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTCAAGGACTTCAATGTGAGACC -3'
(R):5'- AATTTCCCCGGTAGAAGACAC -3'
Sequencing Primer
(F):5'- ACTTCAATGTGAGACCTCAGGGC -3'
(R):5'- TTTCCCCGGTAGAAGACACAATCC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation