Incidental Mutation 'IGL02391:Adamts10'
| ID |
293845 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adamts10
|
| Ensembl Gene |
ENSMUSG00000024299 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
| Synonyms |
ZnMP |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
IGL02391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
33743178-33772756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33747785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 74
(S74P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133891
(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: S74P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000084905
Gene: ENSMUSG00000024299
AA Change: S74P
| 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
AA Change: S74P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000133891
Gene: ENSMUSG00000024299
AA Change: S74P
| 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
AA Change: S74P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000134181
Gene: ENSMUSG00000024299
AA Change: S74P
| 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
AA Change: S74P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000134549
Gene: ENSMUSG00000024299
AA Change: S74P
| 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
AA Change: S74P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000134298
Gene: ENSMUSG00000024299
AA Change: S74P
| 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
AA Change: S74P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133434
Gene: ENSMUSG00000024299
AA Change: S74P
| 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 |
|
| Coding Region Coverage |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
A |
14: 118,790,764 (GRCm39) |
N748Y |
probably damaging |
Het |
| Actbl2 |
A |
G |
13: 111,391,701 (GRCm39) |
D12G |
possibly damaging |
Het |
| Adprs |
C |
T |
4: 126,211,701 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
A |
G |
6: 149,070,944 (GRCm39) |
|
probably null |
Het |
| Antxr1 |
A |
T |
6: 87,264,038 (GRCm39) |
I144N |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cabp5 |
A |
T |
7: 13,132,269 (GRCm39) |
R13* |
probably null |
Het |
| Cacna1e |
A |
G |
1: 154,296,859 (GRCm39) |
Y1669H |
probably damaging |
Het |
| Ccdc174 |
A |
G |
6: 91,875,263 (GRCm39) |
E364G |
possibly damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,283,918 (GRCm39) |
P74S |
probably damaging |
Het |
| Clec3a |
C |
T |
8: 115,152,240 (GRCm39) |
S82L |
probably benign |
Het |
| Cnih3 |
A |
G |
1: 181,234,078 (GRCm39) |
D43G |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,578,087 (GRCm39) |
T128M |
probably damaging |
Het |
| Edar |
A |
T |
10: 58,464,403 (GRCm39) |
F79I |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,251,272 (GRCm39) |
H199Q |
probably benign |
Het |
| Fermt1 |
A |
G |
2: 132,783,871 (GRCm39) |
L46P |
probably damaging |
Het |
| Glipr1 |
A |
G |
10: 111,824,799 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,675,428 (GRCm39) |
N129S |
probably damaging |
Het |
| Ift88 |
T |
C |
14: 57,718,871 (GRCm39) |
S619P |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,679,873 (GRCm39) |
V262E |
probably benign |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mta1 |
T |
A |
12: 113,100,203 (GRCm39) |
I688N |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,894 (GRCm39) |
R651S |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,560 (GRCm39) |
I93V |
probably damaging |
Het |
| Or12d17 |
C |
T |
17: 37,777,477 (GRCm39) |
P127S |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,547,538 (GRCm39) |
L37P |
probably damaging |
Het |
| Or9r7 |
A |
G |
10: 129,962,773 (GRCm39) |
V51A |
possibly damaging |
Het |
| Parg |
T |
G |
14: 31,984,638 (GRCm39) |
|
probably null |
Het |
| Rps3a3 |
A |
G |
13: 108,807,417 (GRCm39) |
|
probably benign |
Het |
| Safb |
T |
A |
17: 56,907,813 (GRCm39) |
|
probably benign |
Het |
| Sat2 |
G |
T |
11: 69,513,575 (GRCm39) |
C54F |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,127,530 (GRCm39) |
Y420F |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,146,717 (GRCm39) |
S362T |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,738,254 (GRCm39) |
D537G |
probably null |
Het |
| Spred3 |
A |
G |
7: 28,865,830 (GRCm39) |
S126P |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,080,578 (GRCm39) |
E951K |
probably damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,512,441 (GRCm39) |
E28G |
possibly damaging |
Het |
| Stox1 |
A |
T |
10: 62,495,455 (GRCm39) |
|
probably benign |
Het |
| Syn3 |
T |
C |
10: 85,900,770 (GRCm39) |
I373V |
probably benign |
Het |
| Tecrl |
A |
T |
5: 83,502,674 (GRCm39) |
F58L |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,033,191 (GRCm39) |
N1655S |
possibly damaging |
Het |
| Usp2 |
G |
T |
9: 44,002,524 (GRCm39) |
Q147H |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,326 (GRCm39) |
N1751K |
possibly damaging |
Het |
| Wipf1 |
T |
A |
2: 73,264,487 (GRCm39) |
D438V |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation