Incidental Mutation 'R7704:Adamts10'
ID |
594211 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts10
|
Ensembl Gene |
ENSMUSG00000024299 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
Synonyms |
ZnMP |
MMRRC Submission |
045765-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.325)
|
Stock # |
R7704 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
33743178-33772756 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33770126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 1002
(C1002R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084905
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087605]
[ENSMUST00000087623]
[ENSMUST00000172922]
[ENSMUST00000173013]
[ENSMUST00000173030]
[ENSMUST00000173241]
[ENSMUST00000173372]
[ENSMUST00000173931]
[ENSMUST00000174695]
|
AlphaFold |
P58459 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087605
|
SMART Domains |
Protein: ENSMUSP00000084887 Gene: ENSMUSG00000024300
Domain | Start | End | E-Value | Type |
MYSc
|
11 |
691 |
N/A |
SMART |
IQ
|
692 |
714 |
7.57e0 |
SMART |
Pfam:Myosin_TH1
|
717 |
909 |
1.7e-51 |
PFAM |
low complexity region
|
939 |
952 |
N/A |
INTRINSIC |
low complexity region
|
973 |
987 |
N/A |
INTRINSIC |
low complexity region
|
991 |
1001 |
N/A |
INTRINSIC |
SH3
|
1044 |
1098 |
2.09e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087623
AA Change: C1002R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084905 Gene: ENSMUSG00000024299 AA Change: C1002R
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: ENSMUST00000173372
|
SMART Domains |
Protein: ENSMUSP00000134715 Gene: ENSMUSG00000024300
Domain | Start | End | E-Value | Type |
MYSc
|
11 |
691 |
N/A |
SMART |
IQ
|
692 |
714 |
7.57e0 |
SMART |
Pfam:Myosin_TH1
|
716 |
780 |
6e-23 |
PFAM |
|
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 |
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174695
|
SMART Domains |
Protein: ENSMUSP00000134600 Gene: ENSMUSG00000024300
Domain | Start | End | E-Value | Type |
Pfam:Myosin_head
|
47 |
98 |
1.3e-21 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
C |
A |
7: 45,756,068 (GRCm39) |
W1458L |
probably damaging |
Het |
Actn4 |
A |
T |
7: 28,596,467 (GRCm39) |
I676N |
possibly damaging |
Het |
Agbl2 |
A |
C |
2: 90,619,349 (GRCm39) |
N58T |
probably benign |
Het |
Akap12 |
A |
T |
10: 4,306,082 (GRCm39) |
D1069V |
probably damaging |
Het |
Bltp2 |
C |
A |
11: 78,159,570 (GRCm39) |
Q540K |
probably benign |
Het |
Cfap65 |
T |
A |
1: 74,967,527 (GRCm39) |
T184S |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,987,737 (GRCm39) |
V1517A |
probably benign |
Het |
CN725425 |
T |
A |
15: 91,119,993 (GRCm39) |
V38D |
possibly damaging |
Het |
Copg1 |
T |
A |
6: 87,884,940 (GRCm39) |
L712Q |
probably benign |
Het |
Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
Ddx21 |
T |
C |
10: 62,429,865 (GRCm39) |
Y293C |
probably damaging |
Het |
Ddx46 |
C |
T |
13: 55,821,832 (GRCm39) |
P839S |
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,496,174 (GRCm39) |
V1164A |
possibly damaging |
Het |
Dync1h1 |
T |
A |
12: 110,632,200 (GRCm39) |
I4490N |
probably damaging |
Het |
Ecm1 |
A |
C |
3: 95,643,843 (GRCm39) |
Y236D |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,175,173 (GRCm39) |
T1847A |
probably benign |
Het |
Galc |
T |
A |
12: 98,175,102 (GRCm39) |
I567L |
probably benign |
Het |
Gask1a |
C |
T |
9: 121,780,151 (GRCm39) |
|
probably benign |
Het |
H6pd |
T |
C |
4: 150,067,360 (GRCm39) |
D350G |
probably benign |
Het |
Ifi44 |
A |
G |
3: 151,438,061 (GRCm39) |
Y409H |
probably benign |
Het |
Kdm5a |
T |
G |
6: 120,404,025 (GRCm39) |
F1210C |
probably damaging |
Het |
Kdm5b |
C |
T |
1: 134,515,669 (GRCm39) |
R98C |
probably damaging |
Het |
Lipt1 |
T |
A |
1: 37,915,043 (GRCm39) |
C366* |
probably null |
Het |
Med13 |
G |
A |
11: 86,236,744 (GRCm39) |
R138* |
probably null |
Het |
Mterf1a |
A |
G |
5: 3,941,845 (GRCm39) |
C8R |
probably benign |
Het |
Ncapg2 |
A |
T |
12: 116,382,897 (GRCm39) |
I243F |
probably damaging |
Het |
Nop58 |
T |
C |
1: 59,744,754 (GRCm39) |
S304P |
probably damaging |
Het |
Nsd2 |
T |
C |
5: 34,028,811 (GRCm39) |
*167Q |
probably null |
Het |
Or1e30 |
T |
G |
11: 73,678,616 (GRCm39) |
M284R |
probably damaging |
Het |
Or2t35 |
T |
A |
14: 14,407,867 (GRCm38) |
I213N |
probably damaging |
Het |
Or52ab2 |
T |
A |
7: 102,969,978 (GRCm39) |
M120K |
|
Het |
Pramel29 |
C |
T |
4: 143,935,091 (GRCm39) |
V217I |
possibly damaging |
Het |
Prdm16 |
C |
T |
4: 154,425,947 (GRCm39) |
G613R |
probably damaging |
Het |
Prss46 |
T |
C |
9: 110,679,065 (GRCm39) |
S89P |
probably damaging |
Het |
Scin |
T |
C |
12: 40,174,687 (GRCm39) |
N132S |
possibly damaging |
Het |
Sec14l2 |
T |
C |
11: 4,058,574 (GRCm39) |
K196R |
probably benign |
Het |
Sox17 |
C |
A |
1: 4,563,895 (GRCm39) |
|
probably benign |
Het |
Tango6 |
A |
G |
8: 107,425,621 (GRCm39) |
T394A |
probably benign |
Het |
Tbc1d22a |
T |
A |
15: 86,250,876 (GRCm39) |
I398N |
probably damaging |
Het |
Tdpoz8 |
A |
G |
3: 92,981,752 (GRCm39) |
I183V |
probably benign |
Het |
Tmem8b |
T |
C |
4: 43,689,461 (GRCm39) |
V285A |
probably damaging |
Het |
Tnfrsf11b |
T |
A |
15: 54,123,497 (GRCm39) |
T35S |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,606,494 (GRCm39) |
I1289F |
probably benign |
Het |
Ust |
C |
T |
10: 8,205,987 (GRCm39) |
V99I |
probably benign |
Het |
Vmn1r76 |
A |
G |
7: 11,664,344 (GRCm39) |
V290A |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,781,665 (GRCm39) |
N360S |
probably benign |
Het |
Vmn2r93 |
T |
C |
17: 18,536,910 (GRCm39) |
I531T |
probably benign |
Het |
Zap70 |
T |
C |
1: 36,818,395 (GRCm39) |
|
probably null |
Het |
Zfp932 |
A |
G |
5: 110,157,630 (GRCm39) |
N443D |
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 |
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 |
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'- TGTGACACAGTCCTAGCACC -3'
(R):5'- CTTCAGTGCACTCTCGAGATG -3'
Sequencing Primer
(F):5'- TAGCACCCTGACCATCCATTG -3'
(R):5'- TGCACTCTCGAGATGGCTGG -3'
|
Posted On |
2019-11-12 |