Incidental Mutation 'R4042:Adamts10'
ID |
315791 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts10
|
Ensembl Gene |
ENSMUSG00000024299 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
Synonyms |
ZnMP |
MMRRC Submission |
040851-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.336)
|
Stock # |
R4042 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
33743178-33772756 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33768514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 864
(H864R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084905
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087623]
[ENSMUST00000172922]
[ENSMUST00000173013]
[ENSMUST00000173030]
[ENSMUST00000173241]
[ENSMUST00000173931]
|
AlphaFold |
P58459 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087623
AA Change: H864R
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000084905 Gene: ENSMUSG00000024299 AA Change: H864R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
40 |
180 |
1.3e-33 |
PFAM |
Pfam:Reprolysin_5
|
237 |
432 |
5e-15 |
PFAM |
Pfam:Reprolysin_4
|
237 |
448 |
5e-11 |
PFAM |
Pfam:Reprolysin
|
239 |
457 |
1.6e-25 |
PFAM |
Pfam:Reprolysin_2
|
257 |
447 |
1.2e-13 |
PFAM |
Pfam:Reprolysin_3
|
261 |
403 |
5.7e-13 |
PFAM |
TSP1
|
550 |
602 |
7.21e-11 |
SMART |
Pfam:ADAM_spacer1
|
706 |
818 |
1.3e-27 |
PFAM |
TSP1
|
828 |
885 |
4.73e-6 |
SMART |
TSP1
|
887 |
940 |
4.35e-2 |
SMART |
TSP1
|
948 |
1003 |
2.66e-2 |
SMART |
TSP1
|
1006 |
1058 |
9.98e-5 |
SMART |
Pfam:PLAC
|
1070 |
1102 |
8.4e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172922
|
SMART Domains |
Protein: ENSMUSP00000133891 Gene: ENSMUSG00000024299
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
39 |
180 |
1.1e-30 |
PFAM |
SCOP:d1bkca_
|
238 |
271 |
4e-7 |
SMART |
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173013
|
SMART Domains |
Protein: ENSMUSP00000134181 Gene: ENSMUSG00000024299
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
39 |
180 |
9.6e-31 |
PFAM |
SCOP:d1bkca_
|
238 |
271 |
3e-7 |
SMART |
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173030
|
SMART Domains |
Protein: ENSMUSP00000134549 Gene: ENSMUSG00000024299
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
39 |
180 |
9.6e-31 |
PFAM |
SCOP:d1bkca_
|
238 |
271 |
3e-7 |
SMART |
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173241
|
SMART Domains |
Protein: ENSMUSP00000134298 Gene: ENSMUSG00000024299
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
39 |
180 |
9.6e-31 |
PFAM |
SCOP:d1bkca_
|
238 |
271 |
3e-7 |
SMART |
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173931
|
SMART Domains |
Protein: ENSMUSP00000133434 Gene: ENSMUSG00000024299
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
39 |
180 |
9.6e-31 |
PFAM |
SCOP:d1bkca_
|
238 |
271 |
3e-7 |
SMART |
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173972
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174104
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174666
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174348
|
SMART Domains |
Protein: ENSMUSP00000133856 Gene: ENSMUSG00000024299
Domain | Start | End | E-Value | Type |
Pfam:Reprolysin_5
|
23 |
220 |
2.6e-16 |
PFAM |
Pfam:Reprolysin_4
|
23 |
235 |
2.6e-12 |
PFAM |
Pfam:Reprolysin
|
25 |
243 |
1e-26 |
PFAM |
Pfam:Reprolysin_2
|
43 |
233 |
7.1e-15 |
PFAM |
Pfam:Reprolysin_3
|
47 |
189 |
4.7e-14 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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. The encoded preproprotein undergoes proteolytic processing to generate a functional, zinc-dependent metallopeptidase enzyme. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
A |
T |
12: 53,186,162 (GRCm39) |
|
probably null |
Het |
Alox5 |
A |
G |
6: 116,437,979 (GRCm39) |
S3P |
possibly damaging |
Het |
Bcl2l2 |
G |
A |
14: 55,122,091 (GRCm39) |
E85K |
possibly damaging |
Het |
Chd6 |
A |
T |
2: 160,830,253 (GRCm39) |
I1014N |
probably damaging |
Het |
Cog1 |
A |
T |
11: 113,551,836 (GRCm39) |
Q156L |
probably damaging |
Het |
Col28a1 |
G |
A |
6: 8,014,678 (GRCm39) |
S909F |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,477,480 (GRCm39) |
G3339D |
probably damaging |
Het |
Cst11 |
A |
G |
2: 148,613,200 (GRCm39) |
S42P |
probably benign |
Het |
Cyp2d10 |
C |
T |
15: 82,290,269 (GRCm39) |
R67H |
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,813,896 (GRCm39) |
R3405L |
probably benign |
Het |
H2-Ab1 |
T |
C |
17: 34,483,834 (GRCm39) |
V65A |
probably benign |
Het |
Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
Insrr |
T |
A |
3: 87,721,134 (GRCm39) |
M1095K |
probably damaging |
Het |
Itih4 |
A |
T |
14: 30,616,995 (GRCm39) |
N517I |
probably damaging |
Het |
Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
Mettl16 |
T |
A |
11: 74,683,118 (GRCm39) |
F187I |
probably damaging |
Het |
Miga2 |
T |
C |
2: 30,257,738 (GRCm39) |
I12T |
possibly damaging |
Het |
Muc5b |
T |
C |
7: 141,418,624 (GRCm39) |
Y3857H |
possibly damaging |
Het |
Ncoa1 |
A |
G |
12: 4,317,871 (GRCm39) |
S165P |
probably damaging |
Het |
Or5bb10 |
A |
T |
19: 12,206,676 (GRCm39) |
I83N |
probably benign |
Het |
Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,934,241 (GRCm39) |
D823G |
probably benign |
Het |
Ppme1 |
A |
G |
7: 99,990,272 (GRCm39) |
S226P |
probably damaging |
Het |
Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
Prune2 |
T |
C |
19: 16,981,190 (GRCm39) |
|
probably null |
Het |
Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Homo |
Rgl2 |
C |
T |
17: 34,156,236 (GRCm39) |
R775W |
probably damaging |
Het |
Rpp40 |
A |
G |
13: 36,082,549 (GRCm39) |
C275R |
probably benign |
Het |
Rrm2 |
T |
C |
12: 24,761,450 (GRCm39) |
Y162H |
probably benign |
Het |
Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 4,991,584 (GRCm39) |
M8377V |
probably benign |
Het |
Uchl4 |
A |
C |
9: 64,142,839 (GRCm39) |
I107L |
probably benign |
Het |
Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
Ythdc1 |
T |
C |
5: 86,964,383 (GRCm39) |
I76T |
probably benign |
Het |
|
Other mutations in Adamts10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01541:Adamts10
|
APN |
17 |
33,762,205 (GRCm39) |
missense |
probably benign |
0.24 |
IGL01865:Adamts10
|
APN |
17 |
33,772,140 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02391:Adamts10
|
APN |
17 |
33,747,785 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02711:Adamts10
|
APN |
17 |
33,757,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R0122:Adamts10
|
UTSW |
17 |
33,747,454 (GRCm39) |
unclassified |
probably benign |
|
R0207:Adamts10
|
UTSW |
17 |
33,764,364 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0481:Adamts10
|
UTSW |
17 |
33,768,347 (GRCm39) |
nonsense |
probably null |
|
R0508:Adamts10
|
UTSW |
17 |
33,762,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R0558:Adamts10
|
UTSW |
17 |
33,769,583 (GRCm39) |
missense |
probably benign |
0.04 |
R0746:Adamts10
|
UTSW |
17 |
33,768,521 (GRCm39) |
nonsense |
probably null |
|
R1027:Adamts10
|
UTSW |
17 |
33,762,737 (GRCm39) |
missense |
probably benign |
0.44 |
R1449:Adamts10
|
UTSW |
17 |
33,764,613 (GRCm39) |
missense |
probably damaging |
0.96 |
R1471:Adamts10
|
UTSW |
17 |
33,772,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Adamts10
|
UTSW |
17 |
33,756,293 (GRCm39) |
missense |
probably benign |
0.40 |
R1631:Adamts10
|
UTSW |
17 |
33,756,316 (GRCm39) |
missense |
probably benign |
0.25 |
R1863:Adamts10
|
UTSW |
17 |
33,770,406 (GRCm39) |
critical splice donor site |
probably null |
|
R1913:Adamts10
|
UTSW |
17 |
33,768,529 (GRCm39) |
missense |
probably benign |
0.00 |
R2091:Adamts10
|
UTSW |
17 |
33,770,166 (GRCm39) |
critical splice donor site |
probably null |
|
R2377:Adamts10
|
UTSW |
17 |
33,747,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R3743:Adamts10
|
UTSW |
17 |
33,747,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R4646:Adamts10
|
UTSW |
17 |
33,764,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R4654:Adamts10
|
UTSW |
17 |
33,756,304 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4695:Adamts10
|
UTSW |
17 |
33,750,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4721:Adamts10
|
UTSW |
17 |
33,764,511 (GRCm39) |
splice site |
probably null |
|
R4798:Adamts10
|
UTSW |
17 |
33,747,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R4896:Adamts10
|
UTSW |
17 |
33,747,870 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7454:Adamts10
|
UTSW |
17 |
33,763,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7494:Adamts10
|
UTSW |
17 |
33,768,352 (GRCm39) |
nonsense |
probably null |
|
R7541:Adamts10
|
UTSW |
17 |
33,750,590 (GRCm39) |
missense |
probably benign |
0.00 |
R7704:Adamts10
|
UTSW |
17 |
33,770,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R7955:Adamts10
|
UTSW |
17 |
33,764,613 (GRCm39) |
missense |
probably damaging |
0.96 |
R8154:Adamts10
|
UTSW |
17 |
33,756,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R8895:Adamts10
|
UTSW |
17 |
33,768,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R8986:Adamts10
|
UTSW |
17 |
33,762,668 (GRCm39) |
missense |
probably benign |
0.09 |
R9116:Adamts10
|
UTSW |
17 |
33,756,330 (GRCm39) |
missense |
probably benign |
0.31 |
Z1176:Adamts10
|
UTSW |
17 |
33,747,762 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Adamts10
|
UTSW |
17 |
33,747,761 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Adamts10
|
UTSW |
17 |
33,764,568 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Adamts10
|
UTSW |
17 |
33,764,403 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATGCTCAGCCCAGTGTG -3'
(R):5'- TGACCCCTTGACCCTATGAG -3'
Sequencing Primer
(F):5'- CAGTGTGCAGGCGGTGAG -3'
(R):5'- ATGAGCTCCTTACCTCCAATAC -3'
|
Posted On |
2015-05-15 |