Incidental Mutation 'R2045:Adamts1'
ID |
221888 |
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 |
040052-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2045 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85592864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 515
(Y515N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
AlphaFold |
P97857 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023610
AA Change: Y778N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023610 Gene: ENSMUSG00000022893 AA Change: Y778N
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 damaging
Transcript: ENSMUST00000125897
AA Change: Y515N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118471 Gene: ENSMUSG00000022893 AA Change: Y515N
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 |
0.8291 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
100% (74/74) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
C |
T |
19: 34,220,799 (GRCm39) |
G303E |
probably damaging |
Het |
Ankef1 |
T |
C |
2: 136,396,658 (GRCm39) |
V695A |
probably benign |
Het |
Ankrd63 |
C |
A |
2: 118,533,834 (GRCm39) |
|
probably benign |
Het |
Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
Atf2 |
A |
C |
2: 73,693,552 (GRCm39) |
D3E |
probably damaging |
Het |
Atp5pb |
T |
C |
3: 105,851,190 (GRCm39) |
|
probably benign |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bms1 |
A |
C |
6: 118,369,588 (GRCm39) |
L960W |
probably damaging |
Het |
Cacna1c |
A |
G |
6: 118,633,098 (GRCm39) |
V977A |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,839,121 (GRCm39) |
S6P |
possibly damaging |
Het |
Capn8 |
A |
G |
1: 182,440,951 (GRCm39) |
T462A |
probably benign |
Het |
Cd226 |
T |
C |
18: 89,225,486 (GRCm39) |
S128P |
probably benign |
Het |
Cd33 |
G |
T |
7: 43,179,316 (GRCm39) |
H278N |
probably benign |
Het |
Cdh1 |
T |
C |
8: 107,392,814 (GRCm39) |
|
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,874,671 (GRCm39) |
|
probably null |
Het |
Chit1 |
A |
G |
1: 134,078,882 (GRCm39) |
I397M |
probably benign |
Het |
Cic |
C |
A |
7: 24,970,961 (GRCm39) |
Q231K |
possibly damaging |
Het |
Clca4b |
A |
G |
3: 144,630,924 (GRCm39) |
V312A |
probably damaging |
Het |
Cngb1 |
T |
A |
8: 96,023,713 (GRCm39) |
|
probably null |
Het |
Cyfip2 |
T |
C |
11: 46,140,616 (GRCm39) |
I430V |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,503,485 (GRCm39) |
E1613G |
probably null |
Het |
Dock2 |
T |
C |
11: 34,244,106 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,160,171 (GRCm39) |
F646I |
probably damaging |
Het |
Eef1b2 |
A |
T |
1: 63,218,646 (GRCm39) |
K144* |
probably null |
Het |
Erap1 |
T |
C |
13: 74,817,569 (GRCm39) |
V137A |
probably benign |
Het |
Far1 |
A |
T |
7: 113,138,478 (GRCm39) |
|
probably null |
Het |
Fbn2 |
A |
T |
18: 58,223,730 (GRCm39) |
C807S |
probably damaging |
Het |
Fgfr1 |
A |
G |
8: 26,048,231 (GRCm39) |
K209R |
probably benign |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Frem2 |
A |
T |
3: 53,443,165 (GRCm39) |
V2533D |
probably damaging |
Het |
Hip1r |
T |
C |
5: 124,138,794 (GRCm39) |
M839T |
probably benign |
Het |
Igfbp2 |
A |
G |
1: 72,891,310 (GRCm39) |
S303G |
probably benign |
Het |
Insyn2a |
T |
G |
7: 134,520,159 (GRCm39) |
K124Q |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Itgb3 |
T |
G |
11: 104,514,239 (GRCm39) |
S27A |
probably benign |
Het |
Kif21b |
G |
A |
1: 136,088,051 (GRCm39) |
D1015N |
probably damaging |
Het |
Krt7 |
A |
T |
15: 101,321,365 (GRCm39) |
|
probably null |
Het |
Krtdap |
T |
A |
7: 30,490,010 (GRCm39) |
F80L |
probably benign |
Het |
Lcp1 |
A |
T |
14: 75,437,841 (GRCm39) |
T84S |
probably benign |
Het |
Lipi |
G |
A |
16: 75,347,087 (GRCm39) |
T444I |
probably damaging |
Het |
Lrguk |
A |
T |
6: 34,048,003 (GRCm39) |
E316V |
probably damaging |
Het |
Lypd1 |
G |
A |
1: 125,838,272 (GRCm39) |
|
probably benign |
Het |
Med12l |
A |
T |
3: 59,169,731 (GRCm39) |
K1632* |
probably null |
Het |
Mrgpra9 |
A |
T |
7: 46,885,583 (GRCm39) |
M28K |
probably benign |
Het |
Mylk |
A |
G |
16: 34,774,023 (GRCm39) |
K1291E |
probably benign |
Het |
Nek4 |
T |
A |
14: 30,675,880 (GRCm39) |
W72R |
probably damaging |
Het |
Nudt8 |
T |
C |
19: 4,051,899 (GRCm39) |
V170A |
probably damaging |
Het |
Oosp3 |
T |
A |
19: 11,676,733 (GRCm39) |
Y31N |
probably benign |
Het |
Padi2 |
A |
T |
4: 140,665,241 (GRCm39) |
R449W |
probably damaging |
Het |
Pcf11 |
G |
T |
7: 92,311,087 (GRCm39) |
N300K |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,558,508 (GRCm39) |
D633G |
possibly damaging |
Het |
Phlpp2 |
T |
A |
8: 110,634,232 (GRCm39) |
W271R |
probably damaging |
Het |
Pikfyve |
T |
C |
1: 65,292,512 (GRCm39) |
V1276A |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,343,050 (GRCm39) |
N176Y |
probably damaging |
Het |
Pop5 |
T |
G |
5: 115,376,271 (GRCm39) |
V33G |
possibly damaging |
Het |
Prkag2 |
A |
G |
5: 25,152,580 (GRCm39) |
F175L |
possibly damaging |
Het |
Ptpn22 |
T |
A |
3: 103,781,337 (GRCm39) |
D79E |
possibly damaging |
Het |
Rab32 |
T |
G |
10: 10,426,577 (GRCm39) |
D123A |
probably damaging |
Het |
Rnpc3 |
T |
C |
3: 113,402,009 (GRCm39) |
K513E |
possibly damaging |
Het |
Senp1 |
A |
T |
15: 97,957,825 (GRCm39) |
F358I |
possibly damaging |
Het |
Sft2d2 |
A |
G |
1: 165,012,647 (GRCm39) |
L83P |
probably damaging |
Het |
Slc9c1 |
G |
A |
16: 45,400,613 (GRCm39) |
R741H |
probably damaging |
Het |
Smad4 |
A |
T |
18: 73,782,877 (GRCm39) |
Y352* |
probably null |
Het |
Tamm41 |
T |
A |
6: 114,993,056 (GRCm39) |
Q232H |
probably benign |
Het |
Tbx6 |
T |
A |
7: 126,382,055 (GRCm39) |
L131Q |
probably damaging |
Het |
Trappc10 |
T |
C |
10: 78,045,313 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
C |
A |
2: 121,034,964 (GRCm39) |
A108S |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,948,470 (GRCm39) |
Y215C |
probably damaging |
Het |
Unc13b |
G |
A |
4: 43,091,266 (GRCm39) |
V31M |
probably damaging |
Het |
Usp24 |
T |
C |
4: 106,258,177 (GRCm39) |
M1525T |
possibly damaging |
Het |
Vax2 |
G |
A |
6: 83,688,252 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
A |
13: 89,839,104 (GRCm39) |
I2147L |
probably benign |
Het |
Zbtb7a |
C |
A |
10: 80,980,244 (GRCm39) |
A146E |
probably benign |
Het |
Zfp287 |
A |
G |
11: 62,618,395 (GRCm39) |
L157P |
probably damaging |
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 |
|
R1847:Adamts1
|
UTSW |
16 |
85,599,114 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- GCGTTGAATGACTCTGTCTTC -3'
(R):5'- ACACATGCTTTGGAGACCC -3'
Sequencing Primer
(F):5'- CTGTCTTCTTCTTCATAAAGTAGGTG -3'
(R):5'- GGAGACCCTGTAATTTTGATATACG -3'
|
Posted On |
2014-08-25 |