Incidental Mutation 'IGL02997:Adamts15'
| ID |
407195 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adamts15
|
| Ensembl Gene |
ENSMUSG00000033453 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 15 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02997
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
30810451-30833748 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 30817353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065112]
|
| AlphaFold |
P59384 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065112
|
| SMART Domains |
Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
24 |
157 |
8.7e-27 |
PFAM |
|
Pfam:Reprolysin_4
|
216 |
422 |
8.2e-7 |
PFAM |
|
Pfam:Reprolysin_5
|
217 |
404 |
7.2e-13 |
PFAM |
|
Pfam:Reprolysin
|
218 |
427 |
3.7e-20 |
PFAM |
|
Pfam:Reprolysin_3
|
240 |
372 |
6.1e-10 |
PFAM |
|
Blast:ACR
|
429 |
507 |
1e-25 |
BLAST |
|
TSP1
|
519 |
571 |
7.85e-12 |
SMART |
|
Pfam:ADAM_spacer1
|
683 |
801 |
7.1e-36 |
PFAM |
|
TSP1
|
842 |
895 |
3e-8 |
SMART |
|
TSP1
|
896 |
949 |
4.21e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217070
|
| 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 versicanase enzyme. This gene is located adjacent to a related ADAMTS gene (Adamts8) on chromosome 9. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,966,359 (GRCm39) |
|
probably benign |
Het |
| Arsa |
T |
C |
15: 89,358,241 (GRCm39) |
D356G |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
| Cmklr1 |
T |
C |
5: 113,752,701 (GRCm39) |
D100G |
probably benign |
Het |
| Col23a1 |
T |
A |
11: 51,467,979 (GRCm39) |
C517S |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,853,205 (GRCm39) |
L1699F |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,892,776 (GRCm39) |
D900G |
probably benign |
Het |
| Glrp1 |
T |
C |
1: 88,437,507 (GRCm39) |
|
probably benign |
Het |
| Gys2 |
A |
T |
6: 142,395,195 (GRCm39) |
D423E |
probably damaging |
Het |
| H2-T9 |
A |
G |
17: 36,438,728 (GRCm39) |
V221A |
possibly damaging |
Het |
| Hp |
C |
A |
8: 110,302,418 (GRCm39) |
V177F |
probably damaging |
Het |
| Isoc1 |
T |
C |
18: 58,804,516 (GRCm39) |
|
probably benign |
Het |
| Kif18b |
A |
G |
11: 102,799,910 (GRCm39) |
L513P |
probably damaging |
Het |
| Kifc2 |
T |
C |
15: 76,548,539 (GRCm39) |
V342A |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,598 (GRCm39) |
S738T |
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,578,018 (GRCm39) |
N381D |
possibly damaging |
Het |
| Masp2 |
C |
A |
4: 148,687,632 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
G |
T |
10: 88,362,235 (GRCm39) |
N982K |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,196,634 (GRCm39) |
|
probably benign |
Het |
| Nkg7 |
T |
C |
7: 43,087,291 (GRCm39) |
F133L |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
| Nlrp4e |
G |
T |
7: 23,000,799 (GRCm39) |
Q31H |
probably benign |
Het |
| Or4p22 |
A |
C |
2: 88,317,732 (GRCm39) |
I219L |
probably damaging |
Het |
| Orc6 |
T |
A |
8: 86,032,837 (GRCm39) |
|
probably benign |
Het |
| Pbrm1 |
C |
T |
14: 30,783,508 (GRCm39) |
L542F |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,797 (GRCm39) |
I37T |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,009,991 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
A |
G |
13: 27,569,087 (GRCm39) |
|
probably benign |
Het |
| Rnf168 |
G |
A |
16: 32,104,239 (GRCm39) |
E146K |
probably damaging |
Het |
| Rsph6a |
T |
G |
7: 18,788,764 (GRCm39) |
L32R |
probably benign |
Het |
| Scaper |
C |
T |
9: 55,722,783 (GRCm39) |
R675H |
probably damaging |
Het |
| Sf3a2 |
G |
A |
10: 80,639,454 (GRCm39) |
R148H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,635,610 (GRCm39) |
N328S |
probably benign |
Het |
| Smurf1 |
T |
A |
5: 144,834,815 (GRCm39) |
R153* |
probably null |
Het |
| Sorcs2 |
C |
T |
5: 36,225,492 (GRCm39) |
V126M |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,128,899 (GRCm39) |
S216P |
probably damaging |
Het |
| Trav7d-4 |
T |
C |
14: 53,007,713 (GRCm39) |
S69P |
probably damaging |
Het |
| Trh |
G |
T |
6: 92,220,115 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,649,896 (GRCm39) |
V438A |
probably benign |
Het |
| Utp25 |
T |
C |
1: 192,802,892 (GRCm39) |
Q275R |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,042,778 (GRCm39) |
E1991G |
probably null |
Het |
|
| Other mutations in Adamts15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00930:Adamts15
|
APN |
9 |
30,813,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01325:Adamts15
|
APN |
9 |
30,832,984 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01506:Adamts15
|
APN |
9 |
30,833,430 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01897:Adamts15
|
APN |
9 |
30,813,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02137:Adamts15
|
APN |
9 |
30,821,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02876:Adamts15
|
APN |
9 |
30,815,818 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03094:Adamts15
|
APN |
9 |
30,815,768 (GRCm39) |
splice site |
probably benign |
|
|
IGL03146:Adamts15
|
APN |
9 |
30,832,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03241:Adamts15
|
APN |
9 |
30,815,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Awareness
|
UTSW |
9 |
30,822,404 (GRCm39) |
critical splice donor site |
probably null |
|
|
heightened
|
UTSW |
9 |
30,816,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Pugsley
|
UTSW |
9 |
30,817,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sparticus
|
UTSW |
9 |
30,821,898 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0118:Adamts15
|
UTSW |
9 |
30,823,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Adamts15
|
UTSW |
9 |
30,816,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0827:Adamts15
|
UTSW |
9 |
30,832,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0946:Adamts15
|
UTSW |
9 |
30,813,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Adamts15
|
UTSW |
9 |
30,813,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1806:Adamts15
|
UTSW |
9 |
30,816,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Adamts15
|
UTSW |
9 |
30,822,004 (GRCm39) |
missense |
probably benign |
|
|
R1967:Adamts15
|
UTSW |
9 |
30,832,605 (GRCm39) |
nonsense |
probably null |
|
|
R2009:Adamts15
|
UTSW |
9 |
30,833,433 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2129:Adamts15
|
UTSW |
9 |
30,815,799 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2329:Adamts15
|
UTSW |
9 |
30,813,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2991:Adamts15
|
UTSW |
9 |
30,832,690 (GRCm39) |
missense |
probably benign |
|
|
R3970:Adamts15
|
UTSW |
9 |
30,821,898 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4212:Adamts15
|
UTSW |
9 |
30,817,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4326:Adamts15
|
UTSW |
9 |
30,815,814 (GRCm39) |
missense |
probably benign |
|
|
R4329:Adamts15
|
UTSW |
9 |
30,815,814 (GRCm39) |
missense |
probably benign |
|
|
R4594:Adamts15
|
UTSW |
9 |
30,832,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5110:Adamts15
|
UTSW |
9 |
30,832,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5120:Adamts15
|
UTSW |
9 |
30,832,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5697:Adamts15
|
UTSW |
9 |
30,823,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5901:Adamts15
|
UTSW |
9 |
30,813,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6011:Adamts15
|
UTSW |
9 |
30,814,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6020:Adamts15
|
UTSW |
9 |
30,813,358 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6651:Adamts15
|
UTSW |
9 |
30,833,448 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6665:Adamts15
|
UTSW |
9 |
30,815,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7021:Adamts15
|
UTSW |
9 |
30,832,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Adamts15
|
UTSW |
9 |
30,817,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Adamts15
|
UTSW |
9 |
30,813,906 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7390:Adamts15
|
UTSW |
9 |
30,822,404 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7798:Adamts15
|
UTSW |
9 |
30,815,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7833:Adamts15
|
UTSW |
9 |
30,833,401 (GRCm39) |
missense |
probably benign |
|
|
R7908:Adamts15
|
UTSW |
9 |
30,813,522 (GRCm39) |
missense |
probably benign |
|
|
R8175:Adamts15
|
UTSW |
9 |
30,815,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Adamts15
|
UTSW |
9 |
30,833,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Adamts15
|
UTSW |
9 |
30,813,846 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8348:Adamts15
|
UTSW |
9 |
30,813,846 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8374:Adamts15
|
UTSW |
9 |
30,814,002 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8473:Adamts15
|
UTSW |
9 |
30,816,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Adamts15
|
UTSW |
9 |
30,823,055 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9113:Adamts15
|
UTSW |
9 |
30,822,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Adamts15
|
UTSW |
9 |
30,816,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Adamts15
|
UTSW |
9 |
30,813,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0063:Adamts15
|
UTSW |
9 |
30,833,526 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0067:Adamts15
|
UTSW |
9 |
30,832,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Adamts15
|
UTSW |
9 |
30,821,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Adamts15
|
UTSW |
9 |
30,813,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation