Incidental Mutation 'R4695:Adamts10'
| ID |
355659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts10
|
| Ensembl Gene |
ENSMUSG00000024299 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
| Synonyms |
ZnMP |
| MMRRC Submission |
042016-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
R4695 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
33743178-33772756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33750713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 251
(M251K)
|
| 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: M251K
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000084905
Gene: ENSMUSG00000024299
AA Change: M251K
| 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 |
possibly damaging
Transcript: ENSMUST00000172922
AA Change: M251K
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133891
Gene: ENSMUSG00000024299
AA Change: M251K
| 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 |
possibly damaging
Transcript: ENSMUST00000173013
AA Change: M251K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134181
Gene: ENSMUSG00000024299
AA Change: M251K
| 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 |
possibly damaging
Transcript: ENSMUST00000173030
AA Change: M251K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134549
Gene: ENSMUSG00000024299
AA Change: M251K
| 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 |
possibly damaging
Transcript: ENSMUST00000173241
AA Change: M251K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134298
Gene: ENSMUSG00000024299
AA Change: M251K
| 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 |
possibly damaging
Transcript: ENSMUST00000173931
AA Change: M251K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133434
Gene: ENSMUSG00000024299
AA Change: M251K
| 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
AA Change: M36K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000133856
Gene: ENSMUSG00000024299
AA Change: M36K
| 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 |
noncoding transcript
Transcript: ENSMUST00000174170
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,875,962 (GRCm39) |
H513Q |
possibly damaging |
Het |
| Afg2a |
T |
G |
3: 37,512,474 (GRCm39) |
F713C |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,580,619 (GRCm39) |
L1861P |
possibly damaging |
Het |
| Apc2 |
C |
A |
10: 80,146,877 (GRCm39) |
R615S |
probably damaging |
Het |
| Arhgap45 |
A |
C |
10: 79,861,364 (GRCm39) |
D509A |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,351,208 (GRCm39) |
T108A |
probably benign |
Het |
| Blm |
T |
A |
7: 80,143,976 (GRCm39) |
D821V |
probably damaging |
Het |
| C3 |
T |
A |
17: 57,528,057 (GRCm39) |
I721L |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,649,826 (GRCm39) |
V207E |
probably damaging |
Het |
| Ccndbp1 |
C |
T |
2: 120,845,208 (GRCm39) |
|
probably benign |
Het |
| Cd180 |
A |
C |
13: 102,842,268 (GRCm39) |
Q438P |
probably benign |
Het |
| Cd248 |
C |
T |
19: 5,118,473 (GRCm39) |
T107M |
probably damaging |
Het |
| Cdan1 |
G |
A |
2: 120,558,864 (GRCm39) |
R445C |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,973,013 (GRCm39) |
H915N |
possibly damaging |
Het |
| Cox8c |
T |
C |
12: 102,865,742 (GRCm39) |
S40P |
possibly damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,092 (GRCm39) |
C347S |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,356 (GRCm39) |
F974I |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,972,221 (GRCm39) |
T1414S |
probably benign |
Het |
| Dlg2 |
C |
A |
7: 92,087,170 (GRCm39) |
|
probably null |
Het |
| Dynlt5 |
T |
A |
4: 102,861,426 (GRCm39) |
I136K |
probably damaging |
Het |
| Dzip1l |
T |
A |
9: 99,529,258 (GRCm39) |
M329K |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,771,924 (GRCm39) |
L582I |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,559,773 (GRCm39) |
Y1068C |
probably damaging |
Het |
| Fam221b |
T |
A |
4: 43,659,622 (GRCm39) |
|
probably null |
Het |
| Fbxw22 |
A |
G |
9: 109,207,939 (GRCm39) |
I444T |
probably damaging |
Het |
| Flnc |
T |
A |
6: 29,440,428 (GRCm39) |
N245K |
probably damaging |
Het |
| Fnip1 |
T |
A |
11: 54,390,245 (GRCm39) |
I380N |
probably damaging |
Het |
| Gbf1 |
C |
T |
19: 46,247,606 (GRCm39) |
R181* |
probably null |
Het |
| Igkv6-17 |
T |
A |
6: 70,348,486 (GRCm39) |
F12I |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,358,645 (GRCm39) |
G174V |
probably damaging |
Het |
| Lrrc52 |
A |
G |
1: 167,293,660 (GRCm39) |
|
probably null |
Het |
| LTO1 |
T |
C |
7: 144,482,715 (GRCm39) |
|
probably null |
Het |
| Matn2 |
A |
G |
15: 34,403,071 (GRCm39) |
Y432C |
probably damaging |
Het |
| Metap1d |
A |
G |
2: 71,355,305 (GRCm39) |
*336W |
probably null |
Het |
| Mgam2-ps |
T |
A |
6: 40,779,489 (GRCm39) |
|
noncoding transcript |
Het |
| Mrps9 |
T |
A |
1: 42,901,675 (GRCm39) |
V61D |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,456,097 (GRCm39) |
Y161H |
probably damaging |
Het |
| Myh9 |
T |
A |
15: 77,653,053 (GRCm39) |
D1428V |
probably damaging |
Het |
| N4bp3 |
A |
T |
11: 51,535,306 (GRCm39) |
|
probably null |
Het |
| Nat9 |
T |
A |
11: 115,075,416 (GRCm39) |
Q75L |
probably benign |
Het |
| Nop2 |
T |
C |
6: 125,121,519 (GRCm39) |
V767A |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,274,307 (GRCm39) |
K728E |
probably damaging |
Het |
| Or51e1 |
T |
G |
7: 102,358,764 (GRCm39) |
C99W |
probably damaging |
Het |
| Or5p72 |
G |
A |
7: 108,022,196 (GRCm39) |
M139I |
probably benign |
Het |
| Or7g21 |
T |
A |
9: 19,032,306 (GRCm39) |
H15Q |
probably null |
Het |
| Pcdhgb2 |
A |
G |
18: 37,825,375 (GRCm39) |
T789A |
probably benign |
Het |
| Pcyt2 |
T |
C |
11: 120,502,000 (GRCm39) |
D321G |
probably benign |
Het |
| Rad9a |
G |
A |
19: 4,250,560 (GRCm39) |
R85C |
probably damaging |
Het |
| Rbbp8 |
A |
T |
18: 11,854,839 (GRCm39) |
K355* |
probably null |
Het |
| Rhag |
T |
C |
17: 41,147,358 (GRCm39) |
Y407H |
probably damaging |
Het |
| Robo4 |
G |
A |
9: 37,314,495 (GRCm39) |
V161M |
probably damaging |
Het |
| Rpl27-ps3 |
C |
A |
18: 6,332,922 (GRCm39) |
N97K |
probably benign |
Het |
| Slc45a4 |
A |
G |
15: 73,453,924 (GRCm39) |
I691T |
possibly damaging |
Het |
| Slc9a9 |
A |
T |
9: 94,818,502 (GRCm39) |
|
probably benign |
Het |
| Stard13 |
A |
G |
5: 150,984,280 (GRCm39) |
F619L |
probably benign |
Het |
| Stt3b |
A |
T |
9: 115,083,862 (GRCm39) |
V438E |
probably damaging |
Het |
| Tacr3 |
C |
T |
3: 134,535,182 (GRCm39) |
T50I |
probably benign |
Het |
| Tacr3 |
G |
T |
3: 134,635,690 (GRCm39) |
C298F |
probably damaging |
Het |
| Taok3 |
C |
T |
5: 117,366,131 (GRCm39) |
T394M |
probably benign |
Het |
| Tgfb1i1 |
A |
G |
7: 127,848,348 (GRCm39) |
D128G |
probably damaging |
Het |
| Tgfbr3l |
G |
T |
8: 4,300,574 (GRCm39) |
V251L |
probably benign |
Het |
| Tom1l2 |
C |
G |
11: 60,161,259 (GRCm39) |
R84P |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,633,238 (GRCm39) |
S953P |
probably benign |
Het |
| Trappc10 |
T |
C |
10: 78,033,697 (GRCm39) |
K957E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,565,668 (GRCm39) |
E28228V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vdr |
A |
T |
15: 97,756,801 (GRCm39) |
|
probably null |
Het |
| Zfp42 |
A |
T |
8: 43,749,168 (GRCm39) |
L111Q |
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 |
|
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 |
|
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'- TGTTTCCCAGATGAGAAACCG -3'
(R):5'- CCATCACTCGTGGCTTCAAC -3'
Sequencing Primer
(F):5'- AAACCGTGGAAGGGTCGTCC -3'
(R):5'- CTCGTGGCTTCAACAAACC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation