Incidental Mutation 'R6967:Adamts8'
ID |
542058 |
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 |
045077-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R6967 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
30853858-30875134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 30865787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 445
(T445I)
|
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: T445I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000069644 Gene: ENSMUSG00000031994 AA Change: T445I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
97% (56/58) |
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 |
4930516K23Rik |
A |
G |
7: 103,708,212 (GRCm39) |
I199T |
probably benign |
Het |
Adam23 |
T |
G |
1: 63,602,495 (GRCm39) |
|
probably null |
Het |
Ahi1 |
T |
C |
10: 20,864,524 (GRCm39) |
V752A |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
Bicra |
T |
C |
7: 15,706,130 (GRCm39) |
E1437G |
probably damaging |
Het |
Cdc42ep4 |
C |
T |
11: 113,619,998 (GRCm39) |
S131N |
possibly damaging |
Het |
Ces1f |
G |
A |
8: 93,994,625 (GRCm39) |
P262L |
probably benign |
Het |
Chrna2 |
A |
T |
14: 66,388,398 (GRCm39) |
|
probably null |
Het |
Cspg4 |
G |
A |
9: 56,797,420 (GRCm39) |
V1295M |
possibly damaging |
Het |
D5Ertd579e |
T |
C |
5: 36,773,100 (GRCm39) |
T432A |
probably benign |
Het |
Dach1 |
A |
T |
14: 98,140,633 (GRCm39) |
S456R |
probably damaging |
Het |
Dhx37 |
T |
C |
5: 125,499,231 (GRCm39) |
D659G |
probably benign |
Het |
Dscaml1 |
T |
C |
9: 45,585,821 (GRCm39) |
V586A |
probably damaging |
Het |
Efhb |
G |
T |
17: 53,770,196 (GRCm39) |
L38I |
probably benign |
Het |
Fbxw10 |
T |
C |
11: 62,738,429 (GRCm39) |
S108P |
possibly damaging |
Het |
Fmnl2 |
A |
G |
2: 52,987,344 (GRCm39) |
N313S |
possibly damaging |
Het |
Gga3 |
T |
C |
11: 115,482,102 (GRCm39) |
E172G |
probably damaging |
Het |
Ggta1 |
A |
G |
2: 35,292,734 (GRCm39) |
V191A |
possibly damaging |
Het |
Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
Hcn4 |
C |
T |
9: 58,731,228 (GRCm39) |
T145M |
unknown |
Het |
Kirrel3 |
T |
C |
9: 34,946,202 (GRCm39) |
S654P |
probably damaging |
Het |
Klrb1 |
A |
T |
6: 128,687,486 (GRCm39) |
|
probably null |
Het |
Krt15 |
T |
A |
11: 100,025,339 (GRCm39) |
D166V |
probably damaging |
Het |
Lipk |
T |
A |
19: 34,017,794 (GRCm39) |
Y277* |
probably null |
Het |
Ly6g |
A |
C |
15: 75,030,398 (GRCm39) |
N49T |
possibly damaging |
Het |
Ms4a4c |
A |
T |
19: 11,392,191 (GRCm39) |
Q4L |
probably benign |
Het |
Nfya |
A |
C |
17: 48,699,932 (GRCm39) |
|
probably benign |
Het |
Nub1 |
T |
C |
5: 24,913,709 (GRCm39) |
V530A |
probably benign |
Het |
Ocln |
A |
T |
13: 100,675,796 (GRCm39) |
Y232* |
probably null |
Het |
Or10ag59 |
A |
G |
2: 87,405,857 (GRCm39) |
N143S |
possibly damaging |
Het |
Or2r2 |
A |
G |
6: 42,463,947 (GRCm39) |
F60S |
probably damaging |
Het |
Or4d2b |
C |
T |
11: 87,780,324 (GRCm39) |
V133I |
probably benign |
Het |
Or5b114-ps1 |
A |
G |
19: 13,352,815 (GRCm39) |
H163R |
unknown |
Het |
Otogl |
G |
A |
10: 107,649,911 (GRCm39) |
A1148V |
probably benign |
Het |
Paqr5 |
C |
T |
9: 61,880,113 (GRCm39) |
W46* |
probably null |
Het |
Psd2 |
C |
A |
18: 36,113,385 (GRCm39) |
L286M |
probably damaging |
Het |
Ptpn4 |
A |
T |
1: 119,612,311 (GRCm39) |
Y27* |
probably null |
Het |
Ripk2 |
A |
G |
4: 16,158,275 (GRCm39) |
|
probably null |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sbk2 |
C |
T |
7: 4,967,146 (GRCm39) |
|
probably null |
Het |
Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
Sspo |
A |
C |
6: 48,466,728 (GRCm39) |
D4072A |
probably benign |
Het |
St6galnac3 |
T |
C |
3: 152,912,345 (GRCm39) |
Y214C |
probably damaging |
Het |
Sugp1 |
T |
A |
8: 70,513,202 (GRCm39) |
D256E |
possibly damaging |
Het |
Sugt1 |
A |
G |
14: 79,834,847 (GRCm39) |
Y90C |
probably benign |
Het |
Taok2 |
A |
G |
7: 126,469,564 (GRCm39) |
I1088T |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,624,819 (GRCm39) |
D1710E |
probably benign |
Het |
Tmc7 |
T |
A |
7: 118,146,901 (GRCm39) |
T459S |
probably benign |
Het |
Tmed11 |
T |
C |
5: 108,926,780 (GRCm39) |
Y164C |
probably damaging |
Het |
Tmem275 |
A |
G |
4: 115,755,491 (GRCm39) |
T97A |
unknown |
Het |
Tmem63b |
T |
C |
17: 45,977,558 (GRCm39) |
E356G |
probably benign |
Het |
Ttc13 |
T |
C |
8: 125,415,357 (GRCm39) |
I261V |
probably benign |
Het |
Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
Vmn1r73 |
A |
T |
7: 11,490,544 (GRCm39) |
K121* |
probably null |
Het |
Zc3h12d |
A |
T |
10: 7,715,644 (GRCm39) |
S16C |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,807,812 (GRCm39) |
M1744K |
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 |
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 |
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'- TTGCCCAGAATTGAACAAGCTC -3'
(R):5'- GGCAAATGGGCTCATCACTATC -3'
Sequencing Primer
(F):5'- CCAGAATTGAACAAGCTCTGTGTTCC -3'
(R):5'- AATGGGCTCATCACTATCCCGATG -3'
|
Posted On |
2018-11-28 |