Incidental Mutation 'R8877:Adamts8'
| ID |
676640 |
| 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 |
068745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R8877 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
30853858-30875134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30862688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 298
(S298P)
|
| 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: S298P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: S298P
| 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 damaging
Transcript: ENSMUST00000163037
AA Change: S91P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124848
Gene: ENSMUSG00000031994
AA Change: S91P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2V4B|B
|
22 |
128 |
2e-38 |
PDB |
|
SCOP:d1kufa_
|
27 |
128 |
2e-22 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,288,704 (GRCm39) |
|
probably null |
Het |
| Acp2 |
G |
A |
2: 91,036,129 (GRCm39) |
R109H |
probably damaging |
Het |
| Anxa7 |
A |
G |
14: 20,517,548 (GRCm39) |
V157A |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,740,904 (GRCm39) |
K181E |
probably damaging |
Het |
| Armt1 |
A |
G |
10: 4,400,864 (GRCm39) |
T204A |
possibly damaging |
Het |
| Brip1 |
A |
C |
11: 86,043,532 (GRCm39) |
V344G |
possibly damaging |
Het |
| Ccdc40 |
C |
T |
11: 119,153,992 (GRCm39) |
S1088L |
probably damaging |
Het |
| Ccdc93 |
A |
T |
1: 121,403,867 (GRCm39) |
H332L |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,706,877 (GRCm39) |
D1120G |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,077,985 (GRCm39) |
I631N |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,637,197 (GRCm39) |
A1354T |
unknown |
Het |
| Cpa2 |
T |
C |
6: 30,541,692 (GRCm39) |
L10P |
probably damaging |
Het |
| Creg2 |
G |
T |
1: 39,689,861 (GRCm39) |
T83K |
probably benign |
Het |
| Ddit3 |
T |
C |
10: 127,131,884 (GRCm39) |
I144T |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,011,292 (GRCm39) |
I1150V |
possibly damaging |
Het |
| Eprs1 |
C |
T |
1: 185,148,071 (GRCm39) |
R1278* |
probably null |
Het |
| Esco1 |
A |
G |
18: 10,575,017 (GRCm39) |
V685A |
probably damaging |
Het |
| Gid8 |
C |
T |
2: 180,358,710 (GRCm39) |
A125V |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,710,941 (GRCm39) |
D208G |
possibly damaging |
Het |
| Gja10 |
G |
A |
4: 32,602,441 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,503,699 (GRCm39) |
I679V |
probably damaging |
Het |
| Gsto2 |
C |
A |
19: 47,873,176 (GRCm39) |
R184S |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,770,854 (GRCm39) |
H830Q |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,514,659 (GRCm39) |
T3571I |
probably benign |
Het |
| Khnyn |
T |
C |
14: 56,131,782 (GRCm39) |
V568A |
possibly damaging |
Het |
| Kif13a |
T |
A |
13: 46,954,921 (GRCm39) |
|
probably null |
Het |
| Larp4b |
T |
C |
13: 9,193,835 (GRCm39) |
V161A |
probably benign |
Het |
| Larp6 |
T |
A |
9: 60,644,850 (GRCm39) |
M330K |
probably benign |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,974 (GRCm39) |
R83G |
possibly damaging |
Het |
| Mavs |
A |
G |
2: 131,087,489 (GRCm39) |
N329S |
possibly damaging |
Het |
| Mep1b |
T |
A |
18: 21,221,630 (GRCm39) |
N193K |
possibly damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,322,468 (GRCm39) |
R12* |
probably null |
Het |
| Mttp |
A |
T |
3: 137,818,317 (GRCm39) |
D380E |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,459,311 (GRCm39) |
T1939I |
probably damaging |
Het |
| Nsun7 |
A |
T |
5: 66,453,294 (GRCm39) |
R670* |
probably null |
Het |
| Obsl1 |
G |
A |
1: 75,473,167 (GRCm39) |
R1019* |
probably null |
Het |
| Or10ak12 |
A |
G |
4: 118,666,482 (GRCm39) |
V193A |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,212 (GRCm39) |
M19T |
probably damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,271 (GRCm39) |
V922I |
probably damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,468,951 (GRCm39) |
V190A |
possibly damaging |
Het |
| Plekhg2 |
G |
T |
7: 28,060,278 (GRCm39) |
T993N |
possibly damaging |
Het |
| Psg26 |
C |
T |
7: 18,217,865 (GRCm39) |
V18I |
probably benign |
Het |
| Slc11a1 |
A |
G |
1: 74,419,424 (GRCm39) |
Y187C |
probably damaging |
Het |
| Smarcd3 |
A |
G |
5: 24,798,990 (GRCm39) |
S323P |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,199,137 (GRCm39) |
Y3163* |
probably null |
Het |
| Stx4a |
T |
A |
7: 127,447,633 (GRCm39) |
V259D |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,087,941 (GRCm39) |
S1331P |
probably damaging |
Het |
| Tmprss11c |
G |
A |
5: 86,385,540 (GRCm39) |
Q311* |
probably null |
Het |
| Tpo |
T |
A |
12: 30,142,738 (GRCm39) |
N662I |
probably damaging |
Het |
| Trav13d-4 |
C |
A |
14: 53,995,350 (GRCm39) |
D101E |
probably damaging |
Het |
| Trbv14 |
G |
A |
6: 41,112,292 (GRCm39) |
A30T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,567,144 (GRCm39) |
S917P |
possibly damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,856,319 (GRCm39) |
C466* |
probably null |
Het |
| Zfp462 |
T |
C |
4: 55,011,097 (GRCm39) |
V1021A |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,682,017 (GRCm39) |
M72T |
probably damaging |
Het |
| Zfp704 |
C |
T |
3: 9,674,416 (GRCm39) |
E122K |
unknown |
Het |
| Zfyve26 |
T |
C |
12: 79,334,152 (GRCm39) |
K289E |
probably benign |
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 |
|
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 |
|
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'- ATGTTTGGGCAGGCTCCAAAG -3'
Sequencing Primer
(F):5'- TGGTAGGAGTGGGCAGCC -3'
(R):5'- AAAGCCCTCCCTTTGATCTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation