Incidental Mutation 'R5781:Adamts4'
| ID |
447713 |
| 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 |
043378-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5781 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
171077990-171088206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171078584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 56
(I56T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013737]
[ENSMUST00000111314]
[ENSMUST00000111315]
[ENSMUST00000111318]
[ENSMUST00000191871]
[ENSMUST00000194778]
[ENSMUST00000219033]
|
| AlphaFold |
Q8BNJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013737
|
| SMART Domains |
Protein: ENSMUSP00000013737
Gene: ENSMUSG00000013593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
193 |
463 |
1.1e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111314
|
| SMART Domains |
Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403
| 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 |
possibly damaging
Transcript: ENSMUST00000111315
AA Change: I56T
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: I56T
| 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: ENSMUST00000111318
|
| SMART Domains |
Protein: ENSMUSP00000106950
Gene: ENSMUSG00000013593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
193 |
236 |
2e-21 |
PFAM |
|
Pfam:Complex1_49kDa
|
232 |
437 |
1.7e-105 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191871
|
| SMART Domains |
Protein: ENSMUSP00000141942
Gene: ENSMUSG00000013593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
114 |
146 |
5.3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194778
|
| SMART Domains |
Protein: ENSMUSP00000141370
Gene: ENSMUSG00000013593
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Complex1_49kDa
|
166 |
231 |
3.4e-28 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219033
AA Change: I68T
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,992,813 (GRCm39) |
L1617P |
probably damaging |
Het |
| Abhd16b |
T |
C |
2: 181,135,947 (GRCm39) |
V283A |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 58,971,040 (GRCm39) |
R208L |
possibly damaging |
Het |
| Alpk1 |
A |
C |
3: 127,473,684 (GRCm39) |
V773G |
possibly damaging |
Het |
| Arhgap10 |
G |
T |
8: 78,177,336 (GRCm39) |
Q100K |
possibly damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,489,439 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,564,377 (GRCm39) |
H277L |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,514,074 (GRCm39) |
V291E |
probably damaging |
Het |
| Cnot6l |
A |
C |
5: 96,234,024 (GRCm39) |
V329G |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,286,908 (GRCm39) |
T910A |
unknown |
Het |
| Dhdds |
G |
A |
4: 133,724,141 (GRCm39) |
L58F |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,567 (GRCm39) |
I846T |
probably benign |
Het |
| Evc |
A |
T |
5: 37,483,914 (GRCm39) |
S129T |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,623,898 (GRCm39) |
V1377A |
probably damaging |
Het |
| Haus6 |
C |
T |
4: 86,519,500 (GRCm39) |
A203T |
possibly damaging |
Het |
| Hkdc1 |
T |
G |
10: 62,253,712 (GRCm39) |
D23A |
probably damaging |
Het |
| Hpdl |
C |
T |
4: 116,677,775 (GRCm39) |
V229M |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,810,518 (GRCm39) |
Y175C |
probably damaging |
Het |
| Hyal1 |
C |
T |
9: 107,454,866 (GRCm39) |
P59S |
probably damaging |
Het |
| Itpr1 |
G |
A |
6: 108,487,699 (GRCm39) |
C2374Y |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,759,139 (GRCm39) |
Y114* |
probably null |
Het |
| Mc2r |
A |
T |
18: 68,540,466 (GRCm39) |
Y276N |
possibly damaging |
Het |
| Mc2r |
A |
T |
18: 68,540,468 (GRCm39) |
I275K |
probably damaging |
Het |
| Mlycd |
A |
G |
8: 120,137,019 (GRCm39) |
Y413C |
probably damaging |
Het |
| Mocs2 |
T |
G |
13: 114,957,455 (GRCm39) |
S86R |
probably damaging |
Het |
| Msx2 |
C |
A |
13: 53,626,644 (GRCm39) |
A35S |
probably benign |
Het |
| Or6c201 |
A |
T |
10: 128,969,016 (GRCm39) |
L207H |
probably damaging |
Het |
| Pla2g4f |
C |
A |
2: 120,135,504 (GRCm39) |
S390I |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,148 (GRCm39) |
A163V |
possibly damaging |
Het |
| Pnn |
T |
C |
12: 59,118,605 (GRCm39) |
V396A |
probably damaging |
Het |
| Rbmxl1 |
G |
A |
8: 79,232,270 (GRCm39) |
|
probably benign |
Het |
| Recql |
G |
T |
6: 142,311,344 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,699,089 (GRCm39) |
N1195K |
probably benign |
Het |
| Rfwd3 |
G |
A |
8: 111,999,716 (GRCm39) |
T754M |
probably benign |
Het |
| Sctr |
A |
G |
1: 119,959,350 (GRCm39) |
T98A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 141,921,803 (GRCm39) |
D6E |
probably benign |
Het |
| Smpdl3a |
T |
A |
10: 57,684,034 (GRCm39) |
I264K |
possibly damaging |
Het |
| Spag6 |
A |
G |
2: 18,736,804 (GRCm39) |
I154V |
probably benign |
Het |
| Tbc1d12 |
A |
C |
19: 38,871,127 (GRCm39) |
T297P |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,396,385 (GRCm39) |
D226G |
probably benign |
Het |
| Ubr3 |
G |
T |
2: 69,846,588 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,195,407 (GRCm39) |
Y1210H |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
| Vmn2r120 |
T |
G |
17: 57,831,938 (GRCm39) |
T284P |
probably benign |
Het |
| Vps13b |
G |
T |
15: 35,794,181 (GRCm39) |
A2286S |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,331,332 (GRCm39) |
|
probably benign |
Het |
| Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
probably benign |
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 |
|
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 |
|
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'- TCAATCCATCCCAGCTGCAG -3'
(R):5'- CATTGATGGTGCCAGTCAGGTAG -3'
Sequencing Primer
(F):5'- AGCTGCAGCCCGGGTAC -3'
(R):5'- TGCCAGTCAGGTAGGTACC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation