Incidental Mutation 'R1847:Adamts1'
ID |
207833 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts1
|
Ensembl Gene |
ENSMUSG00000022893 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 1 |
Synonyms |
ADAMTS-1, ADAM-TS1, METH1, METH-1 |
MMRRC Submission |
039872-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1847 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85599114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 162
(E162G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023610
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
AlphaFold |
P97857 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023610
AA Change: E162G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000023610 Gene: ENSMUSG00000022893 AA Change: E162G
Domain | Start | End | E-Value | Type |
Pfam:Pep_M12B_propep
|
22 |
194 |
1.3e-27 |
PFAM |
Pfam:Reprolysin_4
|
257 |
464 |
2.2e-9 |
PFAM |
Pfam:Reprolysin_5
|
257 |
466 |
1.6e-14 |
PFAM |
Pfam:Reprolysin
|
259 |
468 |
3.6e-22 |
PFAM |
Pfam:Reprolysin_2
|
279 |
458 |
2.1e-10 |
PFAM |
Pfam:Reprolysin_3
|
281 |
413 |
4.8e-14 |
PFAM |
ACR
|
469 |
549 |
7.36e-8 |
SMART |
TSP1
|
563 |
615 |
3.77e-14 |
SMART |
Pfam:ADAM_spacer1
|
726 |
844 |
1.7e-35 |
PFAM |
TSP1
|
858 |
911 |
1.22e-8 |
SMART |
TSP1
|
912 |
968 |
1.2e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125897
|
SMART Domains |
Protein: ENSMUSP00000118471 Gene: ENSMUSG00000022893
Domain | Start | End | E-Value | Type |
Pfam:Reprolysin_4
|
1 |
201 |
2.3e-9 |
PFAM |
Pfam:Reprolysin_5
|
1 |
203 |
8.8e-14 |
PFAM |
Pfam:Reprolysin
|
1 |
205 |
5e-22 |
PFAM |
Pfam:Reprolysin_2
|
16 |
195 |
8.6e-10 |
PFAM |
Pfam:Reprolysin_3
|
19 |
150 |
4.2e-14 |
PFAM |
ACR
|
206 |
286 |
7.36e-8 |
SMART |
TSP1
|
300 |
352 |
3.77e-14 |
SMART |
Pfam:ADAM_spacer1
|
463 |
581 |
3e-35 |
PFAM |
TSP1
|
595 |
648 |
1.22e-8 |
SMART |
TSP1
|
649 |
680 |
4.85e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138474
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.2%
|
Validation Efficiency |
97% (68/70) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family and preproprotein that is proteolytically processed to generate a mature protein product. This secreted protein product plays an important role in ovulation, likely through its cleavage of the extracellular matrix component versican. The encoded protein may enhance tumorigenesis in a mouse model of breast cancer. Homozygous knockout mice for this gene exhibit enhanced perinatal lethality, impaired growth and adipose tissue development, and impaired ovulation in females. [provided by RefSeq, Oct 2015] PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display growth retardation with adipose tissue malformation, impaired female fertility, enlarged renal calices and abnormal adrenal medullary architecture. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
C |
A |
16: 14,263,313 (GRCm39) |
R758S |
probably benign |
Het |
Acnat1 |
A |
T |
4: 49,447,716 (GRCm39) |
H288Q |
possibly damaging |
Het |
Akap11 |
A |
G |
14: 78,751,101 (GRCm39) |
S429P |
probably benign |
Het |
Alg14 |
T |
C |
3: 121,155,415 (GRCm39) |
Y212H |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,357,007 (GRCm39) |
T97A |
probably damaging |
Het |
Ccdc112 |
T |
A |
18: 46,420,821 (GRCm39) |
N310Y |
possibly damaging |
Het |
Cenpl |
A |
T |
1: 160,913,574 (GRCm39) |
Y328F |
probably damaging |
Het |
Cep162 |
G |
A |
9: 87,086,133 (GRCm39) |
H1064Y |
probably benign |
Het |
Cnksr3 |
T |
A |
10: 7,104,324 (GRCm39) |
E126D |
probably benign |
Het |
Ctsh |
T |
A |
9: 89,943,618 (GRCm39) |
M81K |
probably benign |
Het |
D6Wsu163e |
A |
G |
6: 126,932,112 (GRCm39) |
T284A |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,309,616 (GRCm39) |
M196K |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,725,212 (GRCm39) |
G4314C |
probably damaging |
Het |
Dph1 |
A |
G |
11: 75,070,557 (GRCm39) |
Y361H |
probably damaging |
Het |
Ect2 |
C |
T |
3: 27,204,221 (GRCm39) |
M29I |
probably benign |
Het |
Eif3h |
T |
C |
15: 51,661,066 (GRCm39) |
Y167C |
probably damaging |
Het |
Epc2 |
C |
T |
2: 49,422,101 (GRCm39) |
R332C |
probably damaging |
Het |
Fras1 |
C |
A |
5: 96,897,282 (GRCm39) |
|
probably null |
Het |
Gfm2 |
A |
G |
13: 97,299,442 (GRCm39) |
I386V |
probably benign |
Het |
Gpd1l |
G |
A |
9: 114,743,399 (GRCm39) |
T167I |
probably damaging |
Het |
Hsph1 |
T |
A |
5: 149,546,950 (GRCm39) |
K567* |
probably null |
Het |
Igfn1 |
T |
G |
1: 135,897,126 (GRCm39) |
S1147R |
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,874,590 (GRCm39) |
V406A |
probably benign |
Het |
Kcna2 |
A |
G |
3: 107,012,429 (GRCm39) |
I337V |
possibly damaging |
Het |
Kcnab1 |
T |
C |
3: 65,209,615 (GRCm39) |
|
probably null |
Het |
Kri1 |
G |
T |
9: 21,191,788 (GRCm39) |
|
probably benign |
Het |
Lrguk |
T |
A |
6: 34,110,322 (GRCm39) |
I801K |
possibly damaging |
Het |
Magi2 |
A |
T |
5: 20,807,458 (GRCm39) |
N871Y |
probably damaging |
Het |
Map3k10 |
G |
T |
7: 27,360,981 (GRCm39) |
|
probably null |
Het |
Mrps25 |
T |
C |
6: 92,155,721 (GRCm39) |
T71A |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,390,321 (GRCm39) |
W945* |
probably null |
Het |
Ncan |
A |
T |
8: 70,555,104 (GRCm39) |
I1021N |
probably damaging |
Het |
Ncf4 |
C |
A |
15: 78,134,582 (GRCm39) |
S11R |
probably benign |
Het |
Neb |
A |
C |
2: 52,086,307 (GRCm39) |
S5255R |
possibly damaging |
Het |
Nop2 |
TGATGAAGATGAAGATGA |
TGATGAAGATGA |
6: 125,114,042 (GRCm39) |
|
probably benign |
Het |
Or4c102 |
G |
A |
2: 88,422,516 (GRCm39) |
A123T |
probably damaging |
Het |
Or5ak22 |
A |
T |
2: 85,230,785 (GRCm39) |
F31I |
probably damaging |
Het |
Or5d16 |
T |
C |
2: 87,773,065 (GRCm39) |
|
probably null |
Het |
Pacs1 |
T |
C |
19: 5,203,742 (GRCm39) |
I328V |
probably damaging |
Het |
Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
Pan2 |
A |
G |
10: 128,140,247 (GRCm39) |
H56R |
possibly damaging |
Het |
Pigo |
G |
A |
4: 43,024,710 (GRCm39) |
R124* |
probably null |
Het |
Ppfia2 |
A |
G |
10: 106,763,571 (GRCm39) |
D1188G |
probably benign |
Het |
Ppp1r16b |
A |
G |
2: 158,603,355 (GRCm39) |
N327D |
probably damaging |
Het |
Psd3 |
A |
G |
8: 68,172,656 (GRCm39) |
C223R |
possibly damaging |
Het |
Rad50 |
A |
G |
11: 53,592,934 (GRCm39) |
V72A |
possibly damaging |
Het |
Rcor3 |
T |
A |
1: 191,785,133 (GRCm39) |
D445V |
possibly damaging |
Het |
Rundc1 |
T |
A |
11: 101,324,507 (GRCm39) |
H404Q |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,779,236 (GRCm39) |
K2083E |
probably benign |
Het |
Scd3 |
C |
A |
19: 44,224,281 (GRCm39) |
H171Q |
probably damaging |
Het |
Scrn2 |
T |
C |
11: 96,923,021 (GRCm39) |
F155L |
probably benign |
Het |
Serpina12 |
A |
T |
12: 103,998,769 (GRCm39) |
L323Q |
probably damaging |
Het |
Sptlc3 |
T |
A |
2: 139,467,843 (GRCm39) |
M467K |
probably benign |
Het |
Stard9 |
G |
T |
2: 120,528,970 (GRCm39) |
R1742S |
possibly damaging |
Het |
Thbd |
A |
T |
2: 148,249,604 (GRCm39) |
L88* |
probably null |
Het |
Tln2 |
G |
A |
9: 67,269,969 (GRCm39) |
Q477* |
probably null |
Het |
Tnn |
T |
A |
1: 159,943,752 (GRCm39) |
E1020D |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,726,990 (GRCm39) |
H3Q |
probably damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Vmp1 |
G |
A |
11: 86,534,413 (GRCm39) |
Q165* |
probably null |
Het |
Zfp758 |
T |
A |
17: 22,594,204 (GRCm39) |
M230K |
probably benign |
Het |
|
Other mutations in Adamts1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00543:Adamts1
|
APN |
16 |
85,592,461 (GRCm39) |
missense |
probably benign |
|
IGL01753:Adamts1
|
APN |
16 |
85,599,112 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02238:Adamts1
|
APN |
16 |
85,592,713 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02655:Adamts1
|
APN |
16 |
85,599,505 (GRCm39) |
missense |
probably benign |
|
gambler
|
UTSW |
16 |
85,596,497 (GRCm39) |
nonsense |
probably null |
|
sure_thing
|
UTSW |
16 |
85,595,432 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4466001:Adamts1
|
UTSW |
16 |
85,593,579 (GRCm39) |
nonsense |
probably null |
|
R0114:Adamts1
|
UTSW |
16 |
85,596,502 (GRCm39) |
missense |
probably benign |
0.10 |
R0135:Adamts1
|
UTSW |
16 |
85,595,591 (GRCm39) |
splice site |
probably benign |
|
R0179:Adamts1
|
UTSW |
16 |
85,592,353 (GRCm39) |
missense |
probably benign |
0.00 |
R0517:Adamts1
|
UTSW |
16 |
85,597,241 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0526:Adamts1
|
UTSW |
16 |
85,599,260 (GRCm39) |
missense |
probably benign |
|
R0727:Adamts1
|
UTSW |
16 |
85,595,536 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0899:Adamts1
|
UTSW |
16 |
85,594,940 (GRCm39) |
nonsense |
probably null |
|
R1163:Adamts1
|
UTSW |
16 |
85,599,525 (GRCm39) |
missense |
probably benign |
0.07 |
R1555:Adamts1
|
UTSW |
16 |
85,594,776 (GRCm39) |
missense |
probably benign |
0.17 |
R1598:Adamts1
|
UTSW |
16 |
85,595,399 (GRCm39) |
nonsense |
probably null |
|
R1643:Adamts1
|
UTSW |
16 |
85,593,705 (GRCm39) |
splice site |
probably benign |
|
R2045:Adamts1
|
UTSW |
16 |
85,592,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R2093:Adamts1
|
UTSW |
16 |
85,599,333 (GRCm39) |
missense |
probably benign |
0.23 |
R2966:Adamts1
|
UTSW |
16 |
85,593,662 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3937:Adamts1
|
UTSW |
16 |
85,592,507 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3938:Adamts1
|
UTSW |
16 |
85,592,507 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4348:Adamts1
|
UTSW |
16 |
85,599,234 (GRCm39) |
missense |
probably benign |
0.02 |
R4350:Adamts1
|
UTSW |
16 |
85,599,234 (GRCm39) |
missense |
probably benign |
0.02 |
R4351:Adamts1
|
UTSW |
16 |
85,599,234 (GRCm39) |
missense |
probably benign |
0.02 |
R4352:Adamts1
|
UTSW |
16 |
85,599,234 (GRCm39) |
missense |
probably benign |
0.02 |
R4470:Adamts1
|
UTSW |
16 |
85,595,404 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4724:Adamts1
|
UTSW |
16 |
85,599,393 (GRCm39) |
missense |
probably benign |
0.00 |
R4775:Adamts1
|
UTSW |
16 |
85,597,278 (GRCm39) |
nonsense |
probably null |
|
R4972:Adamts1
|
UTSW |
16 |
85,592,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R5353:Adamts1
|
UTSW |
16 |
85,599,496 (GRCm39) |
missense |
probably benign |
0.00 |
R5420:Adamts1
|
UTSW |
16 |
85,596,497 (GRCm39) |
nonsense |
probably null |
|
R5551:Adamts1
|
UTSW |
16 |
85,594,634 (GRCm39) |
missense |
probably benign |
|
R5574:Adamts1
|
UTSW |
16 |
85,596,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R5759:Adamts1
|
UTSW |
16 |
85,594,936 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5860:Adamts1
|
UTSW |
16 |
85,595,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R5910:Adamts1
|
UTSW |
16 |
85,599,037 (GRCm39) |
missense |
probably benign |
0.00 |
R6240:Adamts1
|
UTSW |
16 |
85,599,045 (GRCm39) |
missense |
probably benign |
|
R6473:Adamts1
|
UTSW |
16 |
85,596,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R6623:Adamts1
|
UTSW |
16 |
85,592,525 (GRCm39) |
missense |
probably benign |
0.20 |
R6628:Adamts1
|
UTSW |
16 |
85,592,713 (GRCm39) |
missense |
probably benign |
0.05 |
R7034:Adamts1
|
UTSW |
16 |
85,599,634 (GRCm39) |
unclassified |
probably benign |
|
R7174:Adamts1
|
UTSW |
16 |
85,596,060 (GRCm39) |
missense |
probably benign |
0.00 |
R7572:Adamts1
|
UTSW |
16 |
85,594,629 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7759:Adamts1
|
UTSW |
16 |
85,594,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Adamts1
|
UTSW |
16 |
85,597,117 (GRCm39) |
missense |
probably damaging |
0.99 |
R7880:Adamts1
|
UTSW |
16 |
85,594,940 (GRCm39) |
nonsense |
probably null |
|
R7985:Adamts1
|
UTSW |
16 |
85,595,002 (GRCm39) |
missense |
probably damaging |
1.00 |
R7986:Adamts1
|
UTSW |
16 |
85,596,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R8118:Adamts1
|
UTSW |
16 |
85,592,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R8466:Adamts1
|
UTSW |
16 |
85,599,400 (GRCm39) |
missense |
probably benign |
0.42 |
R8468:Adamts1
|
UTSW |
16 |
85,592,444 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8712:Adamts1
|
UTSW |
16 |
85,594,896 (GRCm39) |
missense |
probably benign |
0.28 |
R8721:Adamts1
|
UTSW |
16 |
85,594,775 (GRCm39) |
missense |
probably damaging |
0.96 |
R8804:Adamts1
|
UTSW |
16 |
85,599,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R9188:Adamts1
|
UTSW |
16 |
85,599,571 (GRCm39) |
missense |
probably damaging |
0.96 |
R9297:Adamts1
|
UTSW |
16 |
85,599,534 (GRCm39) |
missense |
probably benign |
0.01 |
R9346:Adamts1
|
UTSW |
16 |
85,599,420 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9552:Adamts1
|
UTSW |
16 |
85,599,505 (GRCm39) |
missense |
probably benign |
|
R9681:Adamts1
|
UTSW |
16 |
85,599,498 (GRCm39) |
missense |
|
|
R9786:Adamts1
|
UTSW |
16 |
85,592,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- ATACCTGATGGCTTTCCCGC -3'
(R):5'- ATCTGAAGTTGCAGCCGGAC -3'
Sequencing Primer
(F):5'- CCACTGGTTCCGGGTGTTC -3'
(R):5'- CCGGACAGCGGTTTCTTG -3'
|
Posted On |
2014-06-23 |