Incidental Mutation 'R4261:Adamts4'
| ID |
322636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts4
|
| Ensembl Gene |
ENSMUSG00000006403 |
| Gene Name |
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 4 |
| Synonyms |
aggrecanase-1, ADAM-TS4 |
| MMRRC Submission |
041074-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4261 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171250421-171260637 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 171259104 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 822
(P822S)
|
| 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: P625S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403
AA Change: P625S
| 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: P810S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: P810S
| 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: P822S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Meta Mutation Damage Score |
0.0599 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (53/55) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 8,995,234 (GRCm38) |
S298P |
probably damaging |
Het |
| 4930407I10Rik |
A |
G |
15: 82,063,726 (GRCm38) |
D608G |
possibly damaging |
Het |
| Actr10 |
T |
C |
12: 70,952,985 (GRCm38) |
V185A |
probably benign |
Het |
| Adam9 |
G |
A |
8: 24,964,907 (GRCm38) |
Q733* |
probably null |
Het |
| Arhgap9 |
G |
C |
10: 127,328,465 (GRCm38) |
R537P |
probably damaging |
Het |
| Bsn |
T |
A |
9: 108,110,684 (GRCm38) |
|
probably benign |
Het |
| Car5a |
A |
T |
8: 121,944,749 (GRCm38) |
H15Q |
probably benign |
Het |
| Disp1 |
A |
T |
1: 183,089,386 (GRCm38) |
I490N |
probably damaging |
Het |
| Dlgap5 |
T |
G |
14: 47,413,788 (GRCm38) |
Y96S |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,730,137 (GRCm38) |
V162D |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 99,003,886 (GRCm38) |
M821K |
possibly damaging |
Het |
| Exoc3l |
T |
C |
8: 105,290,967 (GRCm38) |
R528G |
probably damaging |
Het |
| Fam234b |
G |
A |
6: 135,209,136 (GRCm38) |
G17E |
unknown |
Het |
| Grhl2 |
G |
A |
15: 37,360,823 (GRCm38) |
G617D |
possibly damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,448,348 (GRCm38) |
|
probably null |
Het |
| Hoxd9 |
C |
A |
2: 74,695,687 (GRCm38) |
|
probably benign |
Het |
| Hspa9 |
A |
G |
18: 34,939,423 (GRCm38) |
S550P |
probably damaging |
Het |
| Ide |
A |
C |
19: 37,329,186 (GRCm38) |
S63A |
unknown |
Het |
| Kat6b |
T |
A |
14: 21,669,669 (GRCm38) |
I1363N |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,291,367 (GRCm38) |
C614* |
probably null |
Het |
| Mphosph8 |
A |
G |
14: 56,674,465 (GRCm38) |
D315G |
probably benign |
Het |
| Mthfr-ps1 |
A |
C |
5: 78,474,483 (GRCm38) |
|
noncoding transcript |
Het |
| Mug1 |
A |
G |
6: 121,873,734 (GRCm38) |
T730A |
probably benign |
Het |
| Myef2 |
T |
C |
2: 125,115,479 (GRCm38) |
T119A |
possibly damaging |
Het |
| Pald1 |
A |
G |
10: 61,343,692 (GRCm38) |
L466P |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,645,680 (GRCm38) |
V286M |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,691,897 (GRCm38) |
D647G |
probably damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,077,631 (GRCm38) |
T737P |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,207,383 (GRCm38) |
T385P |
probably benign |
Het |
| Pkp4 |
A |
G |
2: 59,305,162 (GRCm38) |
Y126C |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,300,993 (GRCm38) |
I109V |
probably benign |
Het |
| Ppcs |
A |
G |
4: 119,421,909 (GRCm38) |
F149L |
probably damaging |
Het |
| Ppp2r5d |
G |
A |
17: 46,687,081 (GRCm38) |
Q219* |
probably null |
Het |
| Raf1 |
C |
T |
6: 115,623,054 (GRCm38) |
|
probably null |
Het |
| Rfx7 |
C |
T |
9: 72,616,643 (GRCm38) |
R372W |
probably damaging |
Het |
| Robo4 |
C |
A |
9: 37,405,581 (GRCm38) |
S397R |
probably benign |
Het |
| Sat1 |
T |
C |
X: 155,215,186 (GRCm38) |
|
probably benign |
Het |
| Serpina1c |
T |
C |
12: 103,897,080 (GRCm38) |
K287R |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,892,028 (GRCm38) |
H34L |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,998,493 (GRCm38) |
Y498H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,798,040 (GRCm38) |
Y14592F |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,398,428 (GRCm38) |
F245S |
possibly damaging |
Het |
| Ugt3a2 |
G |
A |
15: 9,335,793 (GRCm38) |
|
probably null |
Het |
| Wdr91 |
T |
A |
6: 34,904,522 (GRCm38) |
S297C |
possibly damaging |
Het |
| Zcwpw2 |
T |
C |
9: 117,998,914 (GRCm38) |
|
noncoding transcript |
Het |
|
| Other mutations in Adamts4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Adamts4
|
APN |
1 |
171,252,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02496:Adamts4
|
APN |
1 |
171,250,943 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02510:Adamts4
|
APN |
1 |
171,251,390 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02695:Adamts4
|
APN |
1 |
171,252,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02952:Adamts4
|
APN |
1 |
171,251,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03010:Adamts4
|
APN |
1 |
171,251,416 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03304:Adamts4
|
APN |
1 |
171,252,869 (GRCm38) |
splice site |
probably benign |
|
|
PIT4305001:Adamts4
|
UTSW |
1 |
171,259,041 (GRCm38) |
missense |
probably benign |
|
|
R0331:Adamts4
|
UTSW |
1 |
171,250,972 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1302:Adamts4
|
UTSW |
1 |
171,253,183 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1460:Adamts4
|
UTSW |
1 |
171,256,440 (GRCm38) |
splice site |
probably benign |
|
|
R1502:Adamts4
|
UTSW |
1 |
171,258,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1544:Adamts4
|
UTSW |
1 |
171,252,742 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1815:Adamts4
|
UTSW |
1 |
171,256,336 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1982:Adamts4
|
UTSW |
1 |
171,258,934 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1986:Adamts4
|
UTSW |
1 |
171,256,675 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2281:Adamts4
|
UTSW |
1 |
171,256,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4750:Adamts4
|
UTSW |
1 |
171,251,066 (GRCm38) |
missense |
probably benign |
|
|
R4868:Adamts4
|
UTSW |
1 |
171,252,431 (GRCm38) |
intron |
probably benign |
|
|
R4924:Adamts4
|
UTSW |
1 |
171,259,074 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5418:Adamts4
|
UTSW |
1 |
171,252,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5468:Adamts4
|
UTSW |
1 |
171,252,609 (GRCm38) |
missense |
probably benign |
|
|
R5566:Adamts4
|
UTSW |
1 |
171,250,850 (GRCm38) |
start codon destroyed |
probably null |
0.90 |
|
R5781:Adamts4
|
UTSW |
1 |
171,251,015 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6043:Adamts4
|
UTSW |
1 |
171,252,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6053:Adamts4
|
UTSW |
1 |
171,252,715 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6187:Adamts4
|
UTSW |
1 |
171,250,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6614:Adamts4
|
UTSW |
1 |
171,256,624 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6976:Adamts4
|
UTSW |
1 |
171,252,308 (GRCm38) |
intron |
probably benign |
|
|
R7291:Adamts4
|
UTSW |
1 |
171,256,528 (GRCm38) |
missense |
probably benign |
|
|
R7363:Adamts4
|
UTSW |
1 |
171,259,039 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7490:Adamts4
|
UTSW |
1 |
171,256,600 (GRCm38) |
nonsense |
probably null |
|
|
R7797:Adamts4
|
UTSW |
1 |
171,257,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8191:Adamts4
|
UTSW |
1 |
171,252,723 (GRCm38) |
missense |
|
|
|
R8408:Adamts4
|
UTSW |
1 |
171,252,745 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R8684:Adamts4
|
UTSW |
1 |
171,258,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9541:Adamts4
|
UTSW |
1 |
171,257,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9694:Adamts4
|
UTSW |
1 |
171,253,961 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9760:Adamts4
|
UTSW |
1 |
171,258,765 (GRCm38) |
missense |
probably benign |
|
|
X0062:Adamts4
|
UTSW |
1 |
171,256,549 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Adamts4
|
UTSW |
1 |
171,258,784 (GRCm38) |
missense |
probably benign |
0.29 |
|
Z1176:Adamts4
|
UTSW |
1 |
171,258,783 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAATGGTGAATACACGCTG -3'
(R):5'- CCCTACTGTGTTTTAGCAGGAG -3'
Sequencing Primer
(F):5'- TGGTGAATACACGCTGATGCC -3'
(R):5'- GGCAGTTGCAGAAGCCTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation