Incidental Mutation 'R1608:Adamts15'
| ID |
176632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts15
|
| Ensembl Gene |
ENSMUSG00000033453 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 15 |
| Synonyms |
|
| MMRRC Submission |
039645-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1608 (G1)
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
30810451-30833748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30813775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 797
(S797P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065112]
|
| AlphaFold |
P59384 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065112
AA Change: S797P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453
AA Change: S797P
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
C |
5: 4,011,783 (GRCm39) |
Y829H |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,279,375 (GRCm39) |
D74G |
probably damaging |
Het |
| B3gat1 |
T |
C |
9: 26,663,112 (GRCm39) |
I13T |
probably damaging |
Het |
| Cbfa2t3 |
A |
T |
8: 123,374,448 (GRCm39) |
V99D |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,309,799 (GRCm39) |
C1600Y |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,078 (GRCm39) |
N291K |
probably damaging |
Het |
| Dennd1a |
T |
G |
2: 37,742,446 (GRCm39) |
M3L |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,488,147 (GRCm39) |
P1017L |
probably damaging |
Het |
| Dnajc6 |
A |
T |
4: 101,456,364 (GRCm39) |
D86V |
probably damaging |
Het |
| Evx2 |
T |
G |
2: 74,488,195 (GRCm39) |
K208N |
probably damaging |
Het |
| F13a1 |
A |
G |
13: 37,052,785 (GRCm39) |
V718A |
probably damaging |
Het |
| Fcho2 |
T |
C |
13: 98,862,706 (GRCm39) |
D757G |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,232,094 (GRCm39) |
W424* |
probably null |
Het |
| Gata3 |
G |
T |
2: 9,879,579 (GRCm39) |
Y97* |
probably null |
Het |
| Gm15446 |
T |
A |
5: 110,090,323 (GRCm39) |
C192S |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,009,521 (GRCm39) |
D470E |
probably benign |
Het |
| Ier2 |
A |
G |
8: 85,389,055 (GRCm39) |
L109P |
probably benign |
Het |
| Iftap |
T |
C |
2: 101,440,916 (GRCm39) |
E29G |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,217 (GRCm39) |
T559A |
probably benign |
Het |
| Khk |
C |
T |
5: 31,087,938 (GRCm39) |
A204V |
probably damaging |
Het |
| Kndc1 |
T |
A |
7: 139,507,321 (GRCm39) |
M1169K |
possibly damaging |
Het |
| Krtap31-1 |
A |
G |
11: 99,798,919 (GRCm39) |
S41G |
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,512,162 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,913,039 (GRCm39) |
D939G |
probably benign |
Het |
| Or5e1 |
A |
T |
7: 108,354,309 (GRCm39) |
N82I |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,340,974 (GRCm39) |
I1089T |
possibly damaging |
Het |
| Ptk2 |
A |
T |
15: 73,134,424 (GRCm39) |
D558E |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,112 (GRCm39) |
D168G |
probably benign |
Het |
| Shisa8 |
G |
A |
15: 82,092,756 (GRCm39) |
P189L |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,054,204 (GRCm39) |
V89A |
probably benign |
Het |
| Slc40a1 |
C |
T |
1: 45,950,457 (GRCm39) |
A332T |
probably damaging |
Het |
| Slc44a3 |
A |
T |
3: 121,291,496 (GRCm39) |
Y373* |
probably null |
Het |
| Slf2 |
T |
C |
19: 44,937,440 (GRCm39) |
V722A |
probably benign |
Het |
| Spanxn4 |
A |
G |
12: 62,734,624 (GRCm39) |
|
noncoding transcript |
Het |
| Stag3 |
T |
A |
5: 138,296,901 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,628,038 (GRCm39) |
I612T |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,906,043 (GRCm39) |
M286L |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,545,515 (GRCm39) |
N294K |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,302,644 (GRCm39) |
L1381V |
probably damaging |
Het |
| Trpm8 |
T |
G |
1: 88,254,154 (GRCm39) |
S126A |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,857 (GRCm39) |
Y1075C |
probably damaging |
Het |
| Ubox5 |
C |
T |
2: 130,439,376 (GRCm39) |
G418D |
probably benign |
Het |
| Vmn1r67 |
T |
C |
7: 10,180,907 (GRCm39) |
V57A |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,500 (GRCm39) |
H628R |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,216 (GRCm39) |
I231V |
probably benign |
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 |
|
IGL02997:Adamts15
|
APN |
9 |
30,817,353 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATGGCCGATGGTCTACATCAC -3'
(R):5'- GGCAAATACCTGCTCAATGGGCAC -3'
Sequencing Primer
(F):5'- TGGTCTACATCACAAGCAGAG -3'
(R):5'- CAATGGGCACTTTGTGGTATCC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation