Incidental Mutation 'R4165:Adamts8'
| ID |
321698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts8
|
| Ensembl Gene |
ENSMUSG00000031994 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 8 |
| Synonyms |
METH2, METH-2 |
| MMRRC Submission |
041007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
30853858-30875134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30862684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 296
(E296D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068135]
[ENSMUST00000163037]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068135
AA Change: E296D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: E296D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
35 |
152 |
6.4e-23 |
PFAM |
|
Pfam:Reprolysin_5
|
232 |
418 |
1.3e-15 |
PFAM |
|
Pfam:Reprolysin_4
|
233 |
435 |
3.4e-8 |
PFAM |
|
Pfam:Reprolysin
|
234 |
444 |
3.8e-21 |
PFAM |
|
Pfam:Reprolysin_2
|
252 |
434 |
1.3e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
255 |
389 |
7.4e-14 |
PFAM |
|
TSP1
|
545 |
597 |
7.04e-14 |
SMART |
|
Pfam:ADAM_spacer1
|
706 |
825 |
3.2e-35 |
PFAM |
|
TSP1
|
851 |
904 |
5.35e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163037
AA Change: E89D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124848
Gene: ENSMUSG00000031994
AA Change: E89D
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2V4B|B
|
22 |
128 |
2e-38 |
PDB |
|
SCOP:d1kufa_
|
27 |
128 |
2e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214688
|
| Meta Mutation Damage Score |
0.0768 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (38/39) |
| 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. This gene is expressed in mouse lung, heart and macrophage-rich areas of atherosclerotic plaques. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent aggrecanase enzyme. This gene is located adjacent to a related ADAMTS gene on chromosome 9. [provided by RefSeq, May 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,827,044 (GRCm39) |
F4I |
probably damaging |
Het |
| Alg11 |
T |
C |
8: 22,555,573 (GRCm39) |
V278A |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Avil |
C |
T |
10: 126,842,496 (GRCm39) |
Q92* |
probably null |
Het |
| Cfap300 |
A |
T |
9: 8,026,071 (GRCm39) |
L167Q |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,864,522 (GRCm39) |
S36T |
possibly damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,514,883 (GRCm39) |
S7P |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fsd2 |
T |
C |
7: 81,195,608 (GRCm39) |
T434A |
probably damaging |
Het |
| Gm5174 |
A |
G |
10: 86,492,797 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
A |
C |
15: 76,216,667 (GRCm39) |
|
probably benign |
Het |
| Grina |
T |
A |
15: 76,133,529 (GRCm39) |
L334Q |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,929,895 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv15-103 |
G |
T |
6: 68,414,824 (GRCm39) |
G88* |
probably null |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,928,797 (GRCm39) |
I183F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,432,066 (GRCm39) |
|
probably null |
Het |
| Larp7 |
A |
G |
3: 127,330,611 (GRCm39) |
Y569H |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,460,025 (GRCm39) |
I758F |
probably damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,215,446 (GRCm38) |
I189V |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,217,008 (GRCm39) |
I668K |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,632,243 (GRCm39) |
N679K |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Prap1 |
T |
A |
7: 139,676,091 (GRCm39) |
V35E |
probably benign |
Het |
| Prdm1 |
T |
A |
10: 44,317,572 (GRCm39) |
Y417F |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rps3 |
T |
C |
7: 99,132,816 (GRCm39) |
I5V |
probably benign |
Het |
| Sema3a |
A |
T |
5: 13,523,364 (GRCm39) |
|
probably null |
Het |
| Serpina3g |
A |
T |
12: 104,206,546 (GRCm39) |
T116S |
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,040,773 (GRCm39) |
S493P |
possibly damaging |
Het |
| Snapc1 |
G |
T |
12: 74,029,354 (GRCm39) |
|
probably null |
Het |
| Sobp |
C |
T |
10: 42,897,644 (GRCm39) |
G647D |
probably damaging |
Het |
| Tomm22 |
C |
A |
15: 79,555,206 (GRCm39) |
|
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,978,003 (GRCm39) |
|
probably benign |
Het |
| Txnl4a |
T |
A |
18: 80,265,471 (GRCm39) |
M112K |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,427 (GRCm39) |
F61L |
possibly damaging |
Het |
| Zfp709 |
C |
T |
8: 72,644,649 (GRCm39) |
Q693* |
probably null |
Het |
|
| Other mutations in Adamts8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Adamts8
|
APN |
9 |
30,864,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02049:Adamts8
|
APN |
9 |
30,862,650 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02304:Adamts8
|
APN |
9 |
30,867,952 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02385:Adamts8
|
APN |
9 |
30,873,026 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02536:Adamts8
|
APN |
9 |
30,873,368 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03347:Adamts8
|
APN |
9 |
30,870,534 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0633:Adamts8
|
UTSW |
9 |
30,854,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1066:Adamts8
|
UTSW |
9 |
30,867,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Adamts8
|
UTSW |
9 |
30,862,673 (GRCm39) |
missense |
probably benign |
|
|
R1464:Adamts8
|
UTSW |
9 |
30,862,673 (GRCm39) |
missense |
probably benign |
|
|
R1560:Adamts8
|
UTSW |
9 |
30,867,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Adamts8
|
UTSW |
9 |
30,854,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1753:Adamts8
|
UTSW |
9 |
30,865,910 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1932:Adamts8
|
UTSW |
9 |
30,867,808 (GRCm39) |
missense |
probably benign |
|
|
R2087:Adamts8
|
UTSW |
9 |
30,873,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2118:Adamts8
|
UTSW |
9 |
30,854,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:Adamts8
|
UTSW |
9 |
30,870,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4166:Adamts8
|
UTSW |
9 |
30,862,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4193:Adamts8
|
UTSW |
9 |
30,870,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Adamts8
|
UTSW |
9 |
30,867,952 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5155:Adamts8
|
UTSW |
9 |
30,865,844 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5433:Adamts8
|
UTSW |
9 |
30,873,012 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5544:Adamts8
|
UTSW |
9 |
30,863,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Adamts8
|
UTSW |
9 |
30,862,632 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5640:Adamts8
|
UTSW |
9 |
30,867,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5800:Adamts8
|
UTSW |
9 |
30,865,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Adamts8
|
UTSW |
9 |
30,873,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6821:Adamts8
|
UTSW |
9 |
30,867,922 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6967:Adamts8
|
UTSW |
9 |
30,865,787 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7336:Adamts8
|
UTSW |
9 |
30,873,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7538:Adamts8
|
UTSW |
9 |
30,864,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Adamts8
|
UTSW |
9 |
30,870,360 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7942:Adamts8
|
UTSW |
9 |
30,870,209 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7942:Adamts8
|
UTSW |
9 |
30,864,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Adamts8
|
UTSW |
9 |
30,854,611 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8795:Adamts8
|
UTSW |
9 |
30,854,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8877:Adamts8
|
UTSW |
9 |
30,862,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8900:Adamts8
|
UTSW |
9 |
30,865,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9141:Adamts8
|
UTSW |
9 |
30,864,721 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9224:Adamts8
|
UTSW |
9 |
30,854,188 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9326:Adamts8
|
UTSW |
9 |
30,854,886 (GRCm39) |
missense |
probably benign |
|
|
R9331:Adamts8
|
UTSW |
9 |
30,862,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9426:Adamts8
|
UTSW |
9 |
30,864,721 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9796:Adamts8
|
UTSW |
9 |
30,862,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCTCCTAATGAGGTGGTAG -3'
(R):5'- TGTTTGGGCAGGCTCCAAAG -3'
Sequencing Primer
(F):5'- TGGTAGGAGTGGGCAGCC -3'
(R):5'- AAAGCCCTCCCTTTGATCTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation