Incidental Mutation 'R3743:Adamts10'
ID |
270473 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts10
|
Ensembl Gene |
ENSMUSG00000024299 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
Synonyms |
ZnMP |
MMRRC Submission |
040729-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.325)
|
Stock # |
R3743 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
33743178-33772756 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33747686 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 41
(I41V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087623]
[ENSMUST00000172922]
[ENSMUST00000173013]
[ENSMUST00000173030]
[ENSMUST00000173241]
[ENSMUST00000173931]
|
AlphaFold |
P58459 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087623
AA Change: I41V
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000084905 Gene: ENSMUSG00000024299 AA Change: I41V
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 damaging
Transcript: ENSMUST00000172922
AA Change: I41V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133891 Gene: ENSMUSG00000024299 AA Change: I41V
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 damaging
Transcript: ENSMUST00000173013
AA Change: I41V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134181 Gene: ENSMUSG00000024299 AA Change: I41V
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 damaging
Transcript: ENSMUST00000173030
AA Change: I41V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134549 Gene: ENSMUSG00000024299 AA Change: I41V
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 damaging
Transcript: ENSMUST00000173241
AA Change: I41V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134298 Gene: ENSMUSG00000024299 AA Change: I41V
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: ENSMUST00000173813
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173931
AA Change: I41V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133434 Gene: ENSMUSG00000024299 AA Change: I41V
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: ENSMUST00000174170
|
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 |
|
Meta Mutation Damage Score |
0.1233 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (43/44) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
A |
G |
4: 137,182,348 (GRCm39) |
R168G |
probably damaging |
Het |
1700030K09Rik |
A |
G |
8: 73,199,013 (GRCm39) |
H140R |
probably benign |
Het |
Arnt |
T |
C |
3: 95,382,016 (GRCm39) |
V198A |
possibly damaging |
Het |
Atg3 |
A |
G |
16: 44,998,591 (GRCm39) |
|
probably null |
Het |
Atmin |
T |
C |
8: 117,683,312 (GRCm39) |
V324A |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,914,843 (GRCm39) |
R464C |
probably damaging |
Het |
Ccr7 |
G |
T |
11: 99,036,033 (GRCm39) |
S296R |
possibly damaging |
Het |
Cdh12 |
T |
A |
15: 21,537,745 (GRCm39) |
S415R |
probably damaging |
Het |
Cep162 |
A |
T |
9: 87,099,230 (GRCm39) |
|
probably benign |
Het |
Chd3 |
G |
A |
11: 69,254,876 (GRCm39) |
R61* |
probably null |
Het |
Cr2 |
A |
G |
1: 194,832,274 (GRCm39) |
|
probably benign |
Het |
Csf1r |
T |
C |
18: 61,247,846 (GRCm39) |
S305P |
probably benign |
Het |
Cyp4a31 |
A |
C |
4: 115,423,716 (GRCm39) |
Q140P |
possibly damaging |
Het |
Dhx40 |
A |
T |
11: 86,661,985 (GRCm39) |
W691R |
probably damaging |
Het |
Dlgap1 |
G |
A |
17: 71,025,221 (GRCm39) |
|
probably null |
Het |
Entr1 |
A |
G |
2: 26,278,655 (GRCm39) |
|
probably benign |
Het |
Exoc5 |
T |
C |
14: 49,251,806 (GRCm39) |
I582V |
probably benign |
Het |
Exoc5 |
A |
T |
14: 49,270,864 (GRCm39) |
L387* |
probably null |
Het |
Fbxw8 |
A |
G |
5: 118,251,704 (GRCm39) |
S270P |
probably damaging |
Het |
Fgf14 |
C |
A |
14: 124,914,032 (GRCm39) |
G33V |
probably benign |
Het |
Hoxd9 |
T |
A |
2: 74,528,710 (GRCm39) |
V104E |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,233,546 (GRCm39) |
H1729R |
possibly damaging |
Het |
Irf8 |
C |
T |
8: 121,480,310 (GRCm39) |
R274C |
probably damaging |
Het |
Itgb4 |
G |
A |
11: 115,894,496 (GRCm39) |
M1350I |
probably damaging |
Het |
Lrrn4 |
A |
G |
2: 132,711,786 (GRCm39) |
|
probably null |
Het |
Map3k6 |
C |
T |
4: 132,972,384 (GRCm39) |
T320I |
probably benign |
Het |
Morc2a |
A |
G |
11: 3,633,700 (GRCm39) |
E604G |
possibly damaging |
Het |
Mtmr6 |
T |
C |
14: 60,537,747 (GRCm39) |
I582T |
probably benign |
Het |
Ninl |
A |
G |
2: 150,792,168 (GRCm39) |
V785A |
probably benign |
Het |
Obscn |
T |
C |
11: 58,969,911 (GRCm39) |
E77G |
probably damaging |
Het |
Or2b11 |
T |
C |
11: 59,462,335 (GRCm39) |
Y77C |
probably damaging |
Het |
Or2n1 |
T |
G |
17: 38,486,793 (GRCm39) |
F273V |
probably damaging |
Het |
Or4f61 |
A |
G |
2: 111,922,965 (GRCm39) |
L27P |
probably benign |
Het |
Pcdhb2 |
A |
G |
18: 37,429,470 (GRCm39) |
D124G |
probably damaging |
Het |
Pfkl |
G |
A |
10: 77,832,179 (GRCm39) |
T304M |
probably damaging |
Het |
Ppil4 |
T |
A |
10: 7,696,935 (GRCm39) |
S483T |
unknown |
Het |
Slc7a10 |
C |
T |
7: 34,898,325 (GRCm39) |
T332I |
probably damaging |
Het |
Spats2 |
T |
C |
15: 99,108,795 (GRCm39) |
S382P |
probably benign |
Het |
Stpg1 |
T |
A |
4: 135,242,197 (GRCm39) |
D70E |
probably benign |
Het |
Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
Trpv1 |
A |
T |
11: 73,145,128 (GRCm39) |
D430V |
probably damaging |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Zc3h6 |
A |
G |
2: 128,839,712 (GRCm39) |
Y175C |
probably damaging |
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 |
R4042:Adamts10
|
UTSW |
17 |
33,768,514 (GRCm39) |
missense |
possibly damaging |
0.69 |
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'- GGAAGCCAGTTGGTCTTGAG -3'
(R):5'- AGTATTCCACCGAGACGTGC -3'
Sequencing Primer
(F):5'- GCCAGTTGGTCTTGAGAAAGAG -3'
(R):5'- ACCGAGACGTGCCCTGC -3'
|
Posted On |
2015-03-18 |