Incidental Mutation 'R0746:Adamts10'
| ID |
70156 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts10
|
| Ensembl Gene |
ENSMUSG00000024299 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
| Synonyms |
ZnMP |
| MMRRC Submission |
038927-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.336)
|
| Stock # |
R0746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
33743178-33772756 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 33768521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 866
(C866*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087623]
[ENSMUST00000172922]
[ENSMUST00000173013]
[ENSMUST00000173030]
[ENSMUST00000173241]
[ENSMUST00000173931]
|
| AlphaFold |
P58459 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087623
AA Change: C866*
|
| SMART Domains |
Protein: ENSMUSP00000084905
Gene: ENSMUSG00000024299
AA Change: C866*
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
C |
17: 79,935,715 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
T |
C |
2: 58,390,562 (GRCm39) |
M1V |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,718,675 (GRCm39) |
P4S |
probably benign |
Het |
| Arhgef37 |
A |
G |
18: 61,651,064 (GRCm39) |
|
probably null |
Het |
| Arid4b |
A |
G |
13: 14,317,623 (GRCm39) |
T169A |
probably benign |
Het |
| Bltp3b |
T |
A |
10: 89,641,316 (GRCm39) |
I829K |
probably benign |
Het |
| Cabp7 |
A |
T |
11: 4,688,900 (GRCm39) |
I190N |
probably damaging |
Het |
| Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,916,096 (GRCm39) |
F177S |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,308,090 (GRCm39) |
C1283S |
probably damaging |
Het |
| Cul1 |
T |
C |
6: 47,495,222 (GRCm39) |
|
probably null |
Het |
| F7 |
T |
G |
8: 13,084,740 (GRCm39) |
S255R |
probably benign |
Het |
| Fanci |
T |
A |
7: 79,089,429 (GRCm39) |
I955N |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,315,451 (GRCm39) |
D1536E |
possibly damaging |
Het |
| Fus |
A |
G |
7: 127,584,596 (GRCm39) |
|
probably benign |
Het |
| Gpr146 |
C |
T |
5: 139,378,977 (GRCm39) |
R260W |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 34,544,647 (GRCm39) |
F73L |
possibly damaging |
Het |
| Ilf2 |
T |
A |
3: 90,390,114 (GRCm39) |
V142D |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,484 (GRCm39) |
D355G |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,548 (GRCm39) |
F254S |
probably damaging |
Het |
| Mrps10 |
A |
C |
17: 47,683,564 (GRCm39) |
R139S |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,064,257 (GRCm39) |
T71A |
probably benign |
Het |
| Myo1d |
A |
C |
11: 80,477,705 (GRCm39) |
Y893D |
possibly damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,151,227 (GRCm39) |
E760G |
possibly damaging |
Het |
| Or10ab5 |
A |
T |
7: 108,245,248 (GRCm39) |
D178E |
probably damaging |
Het |
| Or11h6 |
T |
A |
14: 50,880,232 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,268,331 (GRCm39) |
D3349V |
probably damaging |
Het |
| Ptprn2 |
A |
C |
12: 116,864,637 (GRCm39) |
M551L |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,353,692 (GRCm39) |
Y2275H |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,526,388 (GRCm39) |
T1193A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,559,394 (GRCm39) |
D815G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,181,470 (GRCm39) |
T18S |
probably benign |
Het |
| Septin5 |
T |
C |
16: 18,441,975 (GRCm39) |
H277R |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,173 (GRCm39) |
S377G |
probably benign |
Het |
| Snx2 |
T |
A |
18: 53,330,961 (GRCm39) |
I142K |
possibly damaging |
Het |
| Spata31d1a |
C |
A |
13: 59,850,077 (GRCm39) |
D684Y |
possibly damaging |
Het |
| Taar6 |
C |
A |
10: 23,861,258 (GRCm39) |
S96I |
probably benign |
Het |
| Thsd7b |
C |
A |
1: 130,116,268 (GRCm39) |
H1340Q |
probably benign |
Het |
| Tmem115 |
C |
T |
9: 107,415,198 (GRCm39) |
T329M |
probably benign |
Het |
| Tmem50b |
C |
T |
16: 91,378,578 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
T |
1: 175,620,539 (GRCm39) |
D316V |
possibly damaging |
Het |
| Yars1 |
C |
A |
4: 129,091,079 (GRCm39) |
S162R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTCTAGGTGCTGGCCCAGGCAG -3'
(R):5'- GAGCCCTTGACCCCTTGACCCTATG -3'
Sequencing Primer
(F):5'- AAATGCTCAGCCCAGTGTG -3'
(R):5'- CAATACTCATCTTCTTGTCACTTCAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation