Incidental Mutation 'IGL03010:Adamts4'
ID |
407721 |
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 # |
IGL03010
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171077990-171088206 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 171078985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 202
(C202R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013737]
[ENSMUST00000111314]
[ENSMUST00000111315]
[ENSMUST00000111318]
[ENSMUST00000191871]
[ENSMUST00000219033]
[ENSMUST00000194778]
|
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 damaging
Transcript: ENSMUST00000111315
AA Change: C190R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106947 Gene: ENSMUSG00000006403 AA Change: C190R
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 damaging
Transcript: ENSMUST00000219033
AA Change: C202R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,876,390 (GRCm39) |
D409G |
probably benign |
Het |
Atp6v1b2 |
T |
C |
8: 69,558,534 (GRCm39) |
I334T |
probably damaging |
Het |
Btn2a2 |
A |
T |
13: 23,670,375 (GRCm39) |
Y119* |
probably null |
Het |
Cct2 |
T |
C |
10: 116,894,019 (GRCm39) |
D245G |
probably damaging |
Het |
Ercc2 |
A |
G |
7: 19,125,491 (GRCm39) |
K486E |
possibly damaging |
Het |
Fam186b |
T |
C |
15: 99,178,508 (GRCm39) |
S273G |
possibly damaging |
Het |
Fbxw24 |
T |
A |
9: 109,452,678 (GRCm39) |
I106L |
probably benign |
Het |
Ghrhr |
T |
C |
6: 55,361,742 (GRCm39) |
I303T |
probably damaging |
Het |
Habp2 |
T |
C |
19: 56,299,655 (GRCm39) |
|
probably null |
Het |
Haus3 |
T |
A |
5: 34,323,631 (GRCm39) |
E326D |
probably benign |
Het |
Hdac7 |
C |
T |
15: 97,691,810 (GRCm39) |
|
probably null |
Het |
Hectd2 |
T |
A |
19: 36,593,002 (GRCm39) |
D722E |
probably benign |
Het |
Il20ra |
G |
T |
10: 19,624,960 (GRCm39) |
G80W |
probably damaging |
Het |
Jag1 |
T |
C |
2: 136,935,118 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
G |
2: 42,213,618 (GRCm39) |
S65P |
possibly damaging |
Het |
Lypd2 |
A |
G |
15: 74,606,102 (GRCm39) |
I12T |
probably benign |
Het |
Nat2 |
T |
A |
8: 67,954,664 (GRCm39) |
L258Q |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,414,688 (GRCm39) |
|
probably benign |
Het |
Or2y1b |
T |
A |
11: 49,208,973 (GRCm39) |
V200E |
probably damaging |
Het |
Or5ac24 |
A |
G |
16: 59,165,135 (GRCm39) |
|
probably benign |
Het |
Or6c3 |
G |
T |
10: 129,308,843 (GRCm39) |
C94F |
probably damaging |
Het |
Pcdh15 |
T |
A |
10: 74,221,777 (GRCm39) |
D692E |
probably damaging |
Het |
Prkcz |
G |
T |
4: 155,371,262 (GRCm39) |
H134N |
probably damaging |
Het |
Prmt8 |
T |
C |
6: 127,706,498 (GRCm39) |
T98A |
probably benign |
Het |
Rps6kc1 |
C |
A |
1: 190,643,803 (GRCm39) |
E19* |
probably null |
Het |
Rrp8 |
A |
G |
7: 105,383,598 (GRCm39) |
S223P |
probably benign |
Het |
Septin10 |
G |
A |
10: 59,006,777 (GRCm39) |
|
probably benign |
Het |
Serpinb7 |
T |
C |
1: 107,379,741 (GRCm39) |
|
probably benign |
Het |
Spaca6 |
C |
A |
17: 18,058,667 (GRCm39) |
Q72K |
probably benign |
Het |
Spag1 |
A |
G |
15: 36,233,419 (GRCm39) |
H712R |
probably benign |
Het |
Spg11 |
C |
A |
2: 121,918,801 (GRCm39) |
A943S |
probably damaging |
Het |
Tmem104 |
T |
C |
11: 115,134,360 (GRCm39) |
S298P |
probably benign |
Het |
Ttn |
A |
G |
2: 76,565,432 (GRCm39) |
I28265T |
probably damaging |
Het |
Usp33 |
G |
T |
3: 152,074,233 (GRCm39) |
V360F |
probably benign |
Het |
Vmn2r113 |
A |
G |
17: 23,175,038 (GRCm39) |
T550A |
possibly damaging |
Het |
Zscan4d |
A |
T |
7: 10,897,070 (GRCm39) |
V128D |
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 |
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 |
2016-08-02 |