Incidental Mutation 'R1592:Adamts8'
| ID |
254715 |
| 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 |
039629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R1592 (G1)
|
| Quality Score |
47 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
30853858-30875134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30854472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 114
(S114P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068135]
[ENSMUST00000163037]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068135
AA Change: S114P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: S114P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124848
Gene: ENSMUSG00000031994
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2V4B|B
|
22 |
128 |
2e-38 |
PDB |
|
SCOP:d1kufa_
|
27 |
128 |
2e-22 |
SMART |
|
| Meta Mutation Damage Score |
0.3836 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,783,444 (GRCm39) |
E327G |
probably damaging |
Het |
| Acp5 |
A |
T |
9: 22,039,147 (GRCm39) |
W189R |
probably damaging |
Het |
| Alkbh3 |
A |
C |
2: 93,838,769 (GRCm39) |
|
probably null |
Het |
| Ankrd13d |
T |
C |
19: 4,332,919 (GRCm39) |
H27R |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,339,853 (GRCm39) |
N382S |
probably benign |
Het |
| Aspg |
G |
A |
12: 112,086,406 (GRCm39) |
R220Q |
probably benign |
Het |
| Atg16l2 |
C |
A |
7: 100,941,193 (GRCm39) |
G403V |
probably damaging |
Het |
| Bcat1 |
G |
T |
6: 144,955,784 (GRCm39) |
Q299K |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,483,868 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,091,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,177,322 (GRCm39) |
I222M |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,040,450 (GRCm39) |
V562A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,199 (GRCm39) |
T2682A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,182,696 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 39,061,326 (GRCm39) |
D4303V |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,665 (GRCm39) |
S234T |
probably benign |
Het |
| Gldc |
G |
A |
19: 30,138,077 (GRCm39) |
|
probably benign |
Het |
| Gli1 |
A |
C |
10: 127,167,198 (GRCm39) |
V685G |
probably damaging |
Het |
| H2-T22 |
T |
C |
17: 36,352,469 (GRCm39) |
N152S |
probably damaging |
Het |
| Inpp5d |
A |
T |
1: 87,593,254 (GRCm39) |
D118V |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,255,555 (GRCm39) |
I182V |
possibly damaging |
Het |
| Ipcef1 |
C |
T |
10: 6,885,182 (GRCm39) |
|
probably null |
Het |
| Kcnj3 |
G |
T |
2: 55,327,898 (GRCm39) |
R229L |
probably damaging |
Het |
| Klf11 |
C |
A |
12: 24,703,737 (GRCm39) |
D57E |
probably damaging |
Het |
| Krt73 |
G |
T |
15: 101,710,674 (GRCm39) |
S20* |
probably null |
Het |
| Lactbl1 |
A |
G |
4: 136,363,187 (GRCm39) |
|
probably null |
Het |
| Mapk10 |
T |
C |
5: 103,186,487 (GRCm39) |
D45G |
possibly damaging |
Het |
| Mfrp |
G |
A |
9: 44,014,519 (GRCm39) |
C222Y |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,147 (GRCm39) |
I2944F |
possibly damaging |
Het |
| Msh2 |
A |
G |
17: 87,987,441 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
T |
A |
15: 103,390,607 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
A |
G |
2: 85,877,333 (GRCm39) |
N169S |
probably benign |
Het |
| Pitpnm1 |
T |
A |
19: 4,156,964 (GRCm39) |
|
probably null |
Het |
| Sik2 |
C |
T |
9: 50,906,971 (GRCm39) |
V85I |
probably damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,552,470 (GRCm39) |
E229V |
probably benign |
Het |
| Spty2d1 |
A |
T |
7: 46,648,637 (GRCm39) |
D97E |
possibly damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Uggt1 |
C |
A |
1: 36,241,939 (GRCm39) |
A332S |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,699 (GRCm39) |
L961* |
probably null |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,837 (GRCm39) |
T144S |
possibly damaging |
Het |
| Wdfy1 |
G |
A |
1: 79,683,972 (GRCm39) |
R388C |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,106,321 (GRCm39) |
M1L |
probably damaging |
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 |
|
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 |
|
R4165:Adamts8
|
UTSW |
9 |
30,862,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- TTTTCCTGGACAGAGCGGCCC -3'
(R):5'- AAACTTCGGCGGCAGCGAGC -3'
Sequencing Primer
(F):5'- CTCGGAGCTAGTGGTGC -3'
(R):5'- CTGTGGCTGGATGGTGAACT -3'
|
| Posted On |
2014-12-19 |
Incidental Mutation