Incidental Mutation 'IGL02510:Adamts4'
ID |
296494 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adamts4
|
Ensembl Gene |
ENSMUSG00000006403 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 4 |
Synonyms |
aggrecanase-1, ADAM-TS4 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02510
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171077990-171088206 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 171078959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 193
(S193N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151387
(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 |
probably benign
Transcript: ENSMUST00000111315
AA Change: S181N
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000106947 Gene: ENSMUSG00000006403 AA Change: S181N
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 |
probably benign
Transcript: ENSMUST00000219033
AA Change: S193N
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arrdc1 |
C |
A |
2: 24,825,112 (GRCm39) |
V16F |
probably damaging |
Het |
Bhmt1b |
A |
G |
18: 87,775,653 (GRCm39) |
Q392R |
probably benign |
Het |
Bsx |
A |
T |
9: 40,785,517 (GRCm39) |
Q15L |
possibly damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,639,704 (GRCm39) |
T253A |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,902,097 (GRCm39) |
L102P |
probably damaging |
Het |
Cgnl1 |
G |
T |
9: 71,632,639 (GRCm39) |
N237K |
probably benign |
Het |
Cldn14 |
T |
A |
16: 93,716,844 (GRCm39) |
M1L |
probably damaging |
Het |
Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
Col7a1 |
C |
A |
9: 108,802,299 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dhrs2 |
G |
A |
14: 55,473,532 (GRCm39) |
V64M |
probably damaging |
Het |
Disp3 |
G |
A |
4: 148,337,158 (GRCm39) |
H886Y |
probably benign |
Het |
Dst |
G |
A |
1: 34,268,332 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
T |
C |
2: 90,581,819 (GRCm39) |
V215A |
probably benign |
Het |
Fzd9 |
A |
G |
5: 135,278,469 (GRCm39) |
L472P |
probably damaging |
Het |
Hpd |
C |
T |
5: 123,319,973 (GRCm39) |
R15Q |
possibly damaging |
Het |
Htra2 |
A |
G |
6: 83,028,592 (GRCm39) |
V412A |
probably damaging |
Het |
Ift80 |
A |
G |
3: 68,805,876 (GRCm39) |
F722S |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,723,154 (GRCm39) |
T741A |
probably benign |
Het |
Kl |
A |
C |
5: 150,912,466 (GRCm39) |
E738D |
probably damaging |
Het |
Klra4 |
T |
A |
6: 130,036,506 (GRCm39) |
I178L |
probably damaging |
Het |
Klra9 |
T |
C |
6: 130,168,185 (GRCm39) |
E27G |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,957,125 (GRCm39) |
Y2145H |
probably benign |
Het |
Mbd5 |
T |
A |
2: 49,147,041 (GRCm39) |
M417K |
probably benign |
Het |
Med31 |
C |
T |
11: 72,102,882 (GRCm39) |
M75I |
probably benign |
Het |
Mpeg1 |
A |
T |
19: 12,438,788 (GRCm39) |
D82V |
probably damaging |
Het |
Msto1 |
A |
G |
3: 88,817,652 (GRCm39) |
Y439H |
probably damaging |
Het |
Or1e17 |
G |
A |
11: 73,831,831 (GRCm39) |
G253E |
probably damaging |
Het |
Or1j15 |
T |
C |
2: 36,458,693 (GRCm39) |
S28P |
possibly damaging |
Het |
Or2av9 |
T |
C |
11: 58,381,365 (GRCm39) |
Y72C |
probably damaging |
Het |
Or5p64 |
T |
A |
7: 107,855,348 (GRCm39) |
|
probably benign |
Het |
Prtg |
G |
A |
9: 72,798,151 (GRCm39) |
V706M |
probably damaging |
Het |
Sfxn2 |
G |
T |
19: 46,576,711 (GRCm39) |
A186S |
probably benign |
Het |
Slc12a5 |
A |
T |
2: 164,824,728 (GRCm39) |
|
probably benign |
Het |
Slc7a3 |
T |
C |
X: 100,126,439 (GRCm39) |
E222G |
probably benign |
Het |
Stox1 |
A |
T |
10: 62,499,826 (GRCm39) |
H911Q |
probably benign |
Het |
Sult3a2 |
A |
T |
10: 33,642,435 (GRCm39) |
N289K |
probably benign |
Het |
Supt20 |
A |
G |
3: 54,622,945 (GRCm39) |
|
probably benign |
Het |
Tchh |
A |
G |
3: 93,351,385 (GRCm39) |
E275G |
unknown |
Het |
Tectb |
A |
T |
19: 55,179,943 (GRCm39) |
N263I |
probably damaging |
Het |
Tsga10 |
C |
T |
1: 37,800,066 (GRCm39) |
R608Q |
possibly damaging |
Het |
Ttyh3 |
A |
G |
5: 140,615,219 (GRCm39) |
Y390H |
probably damaging |
Het |
Utf1 |
C |
A |
7: 139,523,929 (GRCm39) |
S48* |
probably null |
Het |
Zfp358 |
G |
A |
8: 3,546,786 (GRCm39) |
G456D |
probably benign |
Het |
Zup1 |
A |
G |
10: 33,806,150 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |