Incidental Mutation 'R1027:Adamts10'
| ID |
96906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts10
|
| Ensembl Gene |
ENSMUSG00000024299 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
| Synonyms |
ZnMP |
| MMRRC Submission |
039129-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.336)
|
| Stock # |
R1027 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
33743178-33772756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33762737 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 572
(R572L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084905
(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: R572L
PolyPhen 2
Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000084905
Gene: ENSMUSG00000024299
AA Change: R572L
| 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 |
noncoding transcript
Transcript: ENSMUST00000173813
|
| 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: ENSMUST00000174666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173972
|
| 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 |
0.3832 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 89.0%
|
| Validation Efficiency |
94% (31/33) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
T |
13: 70,915,921 (GRCm39) |
V838E |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,467,123 (GRCm39) |
R2026G |
probably benign |
Het |
| Arl16 |
G |
A |
11: 120,356,522 (GRCm39) |
A159V |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,407,849 (GRCm39) |
R602L |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 138,969,700 (GRCm39) |
V72A |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,390,051 (GRCm39) |
E213G |
probably benign |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gm4076 |
T |
C |
13: 85,275,508 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
C |
9: 66,363,250 (GRCm39) |
V2691A |
probably benign |
Het |
| Hid1 |
A |
C |
11: 115,246,251 (GRCm39) |
F340V |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,696,458 (GRCm39) |
|
probably benign |
Het |
| Map9 |
A |
T |
3: 82,284,401 (GRCm39) |
D325V |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,624,456 (GRCm39) |
M2079V |
probably benign |
Het |
| Nop14 |
A |
G |
5: 34,801,348 (GRCm39) |
S608P |
probably damaging |
Het |
| Or5p62 |
A |
T |
7: 107,771,348 (GRCm39) |
V201D |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,746,482 (GRCm39) |
|
probably benign |
Het |
| Pigs |
T |
C |
11: 78,227,651 (GRCm39) |
S272P |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,101,256 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,468,576 (GRCm39) |
D129G |
possibly damaging |
Het |
| Rab33b |
T |
C |
3: 51,391,876 (GRCm39) |
S42P |
probably damaging |
Het |
| Rnf214 |
C |
T |
9: 45,811,187 (GRCm39) |
V159I |
probably benign |
Het |
| Sel1l3 |
A |
T |
5: 53,302,820 (GRCm39) |
M683K |
possibly damaging |
Het |
| Sntb2 |
A |
G |
8: 107,718,203 (GRCm39) |
K304E |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,094,084 (GRCm39) |
S1518I |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,544,258 (GRCm39) |
S76P |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,697,777 (GRCm39) |
|
probably benign |
Het |
| Zbtb12 |
CTTCAT |
CTTCATTCAT |
17: 35,115,284 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- ACACCTCCCCATTTCAGAGTGGAC -3'
(R):5'- TGGCAAGAGCAAGCTCAATCAGGC -3'
Sequencing Primer
(F):5'- ATTTCAGAGTGGACTGCACC -3'
(R):5'- CAAGCTCAATCAGGCTTTGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation