Incidental Mutation 'R5909:Adamts8'
| ID |
460855 |
| 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 |
044106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5909 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
30853858-30875134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30873224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 810
(S810P)
|
| 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: S810P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: S810P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214688
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| 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. 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
A |
T |
8: 89,052,124 (GRCm39) |
I931F |
probably damaging |
Het |
| Alcam |
G |
T |
16: 52,111,356 (GRCm39) |
Q248K |
probably benign |
Het |
| Astn1 |
A |
C |
1: 158,429,507 (GRCm39) |
R750S |
probably damaging |
Het |
| Atp1a2 |
A |
T |
1: 172,114,797 (GRCm39) |
N329K |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,791,556 (GRCm39) |
V266A |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,228,794 (GRCm39) |
V278A |
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,437,111 (GRCm39) |
E493G |
probably damaging |
Het |
| Cpvl |
T |
C |
6: 53,909,413 (GRCm39) |
Y241C |
probably damaging |
Het |
| Ddx55 |
T |
C |
5: 124,704,913 (GRCm39) |
M390T |
probably benign |
Het |
| Ero1b |
A |
G |
13: 12,594,139 (GRCm39) |
E102G |
probably benign |
Het |
| Etnk1 |
A |
G |
6: 143,143,164 (GRCm39) |
D273G |
probably benign |
Het |
| Exoc3 |
A |
G |
13: 74,347,643 (GRCm39) |
V109A |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,091 (GRCm39) |
I58N |
probably damaging |
Het |
| Fancd2 |
T |
A |
6: 113,538,672 (GRCm39) |
V589E |
probably benign |
Het |
| Fbll1 |
G |
A |
11: 35,689,159 (GRCm39) |
R35C |
unknown |
Het |
| Fnbp1 |
A |
G |
2: 30,938,211 (GRCm39) |
|
probably null |
Het |
| Glce |
G |
T |
9: 61,967,426 (GRCm39) |
A575D |
probably damaging |
Het |
| Ift20 |
T |
A |
11: 78,430,867 (GRCm39) |
M70K |
possibly damaging |
Het |
| Impg2 |
T |
C |
16: 56,078,499 (GRCm39) |
V487A |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,619,426 (GRCm39) |
D206G |
probably benign |
Het |
| Jak3 |
A |
G |
8: 72,136,875 (GRCm39) |
I684V |
possibly damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,306 (GRCm39) |
S1169N |
probably benign |
Het |
| Krt35 |
A |
T |
11: 99,986,639 (GRCm39) |
L125Q |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,948,855 (GRCm39) |
A873T |
probably benign |
Het |
| Lrch4 |
T |
C |
5: 137,632,127 (GRCm39) |
S74P |
possibly damaging |
Het |
| Maneal |
A |
T |
4: 124,750,966 (GRCm39) |
Y263* |
probably null |
Het |
| Mcat |
C |
T |
15: 83,432,116 (GRCm39) |
A251T |
probably benign |
Het |
| Mup3 |
T |
G |
4: 62,004,244 (GRCm39) |
T90P |
probably benign |
Het |
| Mybpc2 |
G |
A |
7: 44,156,515 (GRCm39) |
A812V |
probably damaging |
Het |
| Naa15 |
T |
C |
3: 51,367,485 (GRCm39) |
F503L |
probably damaging |
Het |
| Nudt8 |
T |
C |
19: 4,050,727 (GRCm39) |
L25S |
possibly damaging |
Het |
| Oas1e |
A |
T |
5: 120,926,972 (GRCm39) |
V245D |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,417,054 (GRCm39) |
M109T |
possibly damaging |
Het |
| Or4c58 |
A |
G |
2: 89,674,735 (GRCm39) |
V194A |
possibly damaging |
Het |
| Or4p18 |
A |
T |
2: 88,232,535 (GRCm39) |
F248I |
probably damaging |
Het |
| Phkb |
G |
T |
8: 86,748,076 (GRCm39) |
|
probably null |
Het |
| Pidd1 |
A |
C |
7: 141,021,183 (GRCm39) |
L365R |
probably damaging |
Het |
| Pira12 |
G |
A |
7: 3,900,621 (GRCm39) |
T43I |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,750,795 (GRCm39) |
R1739C |
probably benign |
Het |
| Pkdrej |
A |
T |
15: 85,702,497 (GRCm39) |
D1146E |
possibly damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,390,159 (GRCm39) |
W1425L |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,181 (GRCm39) |
L145P |
probably damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,945,649 (GRCm39) |
D941E |
probably benign |
Het |
| Prdm13 |
G |
T |
4: 21,683,894 (GRCm39) |
Q126K |
unknown |
Het |
| Rbm25 |
T |
A |
12: 83,728,362 (GRCm39) |
V837E |
probably damaging |
Het |
| Rcc2 |
T |
A |
4: 140,444,379 (GRCm39) |
Y357N |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,919,884 (GRCm39) |
N882K |
probably damaging |
Het |
| Sox13 |
A |
G |
1: 133,311,627 (GRCm39) |
I535T |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,040,291 (GRCm39) |
S2408P |
probably benign |
Het |
| Stat3 |
G |
A |
11: 100,794,556 (GRCm39) |
T251I |
probably benign |
Het |
| Sulf1 |
A |
T |
1: 12,929,039 (GRCm39) |
D102V |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tmem145 |
G |
T |
7: 25,007,618 (GRCm39) |
L208F |
possibly damaging |
Het |
| Trim17 |
A |
T |
11: 58,859,506 (GRCm39) |
E240V |
probably damaging |
Het |
| Trim43b |
A |
T |
9: 88,967,451 (GRCm39) |
I395K |
possibly damaging |
Het |
| Trmt61a |
C |
A |
12: 111,647,292 (GRCm39) |
H130N |
probably damaging |
Het |
| Unc5b |
A |
C |
10: 60,608,138 (GRCm39) |
L654R |
probably damaging |
Het |
| Vmn1r66 |
A |
T |
7: 10,008,269 (GRCm39) |
S255T |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,345,109 (GRCm39) |
F677S |
probably benign |
Het |
| Zfp493 |
T |
A |
13: 67,934,717 (GRCm39) |
C223* |
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 |
|
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 |
|
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'- TGATGTGAAACAGCGGAGTC -3'
(R):5'- CTCATCACAGGTGTCAGAGG -3'
Sequencing Primer
(F):5'- TACCTGGCGCTGAAGACAG -3'
(R):5'- GGTCCCTGCATTCCACAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation