Incidental Mutation 'R1643:Adamts1'
ID |
173713 |
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 |
039679-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1643 (G1)
|
Quality Score |
221 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 85593705 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
AlphaFold |
P97857 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023610
|
SMART Domains |
Protein: ENSMUSP00000023610 Gene: ENSMUSG00000022893
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.5%
|
Validation Efficiency |
99% (74/75) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700037C18Rik |
T |
A |
16: 3,724,942 (GRCm39) |
K45* |
probably null |
Het |
Abcc1 |
T |
A |
16: 14,231,232 (GRCm39) |
Y457N |
probably damaging |
Het |
Actr3b |
A |
G |
5: 26,017,009 (GRCm39) |
D19G |
probably damaging |
Het |
Adam39 |
T |
C |
8: 41,279,523 (GRCm39) |
V638A |
possibly damaging |
Het |
AI661453 |
A |
G |
17: 47,778,791 (GRCm39) |
|
probably benign |
Het |
Ank3 |
G |
A |
10: 69,720,632 (GRCm39) |
S565N |
probably benign |
Het |
Casd1 |
A |
G |
6: 4,621,243 (GRCm39) |
E267G |
probably benign |
Het |
Casr |
T |
C |
16: 36,320,567 (GRCm39) |
K527R |
probably damaging |
Het |
Cep128 |
A |
C |
12: 91,292,306 (GRCm39) |
S248A |
probably damaging |
Het |
Clic4 |
A |
G |
4: 134,966,206 (GRCm39) |
V50A |
possibly damaging |
Het |
Cylc2 |
C |
T |
4: 51,225,173 (GRCm39) |
A36V |
probably benign |
Het |
Derl1 |
T |
A |
15: 57,741,955 (GRCm39) |
M127L |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,021,735 (GRCm39) |
V3529A |
possibly damaging |
Het |
Dock1 |
G |
T |
7: 134,700,508 (GRCm39) |
L1089F |
probably damaging |
Het |
Edil3 |
T |
A |
13: 89,437,695 (GRCm39) |
|
probably null |
Het |
Efcab3 |
A |
T |
11: 104,589,804 (GRCm39) |
T134S |
probably benign |
Het |
Ephb1 |
A |
G |
9: 101,874,024 (GRCm39) |
V550A |
probably damaging |
Het |
Fcho2 |
G |
A |
13: 98,921,324 (GRCm39) |
T187I |
probably benign |
Het |
Gas6 |
T |
C |
8: 13,515,902 (GRCm39) |
|
probably null |
Het |
Gdf7 |
T |
C |
12: 8,347,971 (GRCm39) |
Y442C |
probably damaging |
Het |
Gm11567 |
G |
A |
11: 99,770,623 (GRCm39) |
G187E |
unknown |
Het |
Gm8674 |
T |
C |
13: 50,055,394 (GRCm39) |
|
noncoding transcript |
Het |
Ift80 |
T |
A |
3: 68,823,490 (GRCm39) |
I591F |
probably benign |
Het |
Kcnn3 |
C |
T |
3: 89,427,804 (GRCm39) |
S10L |
unknown |
Het |
Keg1 |
A |
G |
19: 12,696,406 (GRCm39) |
I197V |
probably benign |
Het |
Klhdc9 |
A |
G |
1: 171,187,034 (GRCm39) |
|
probably null |
Het |
Klhl11 |
A |
G |
11: 100,353,841 (GRCm39) |
V660A |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,133,818 (GRCm39) |
|
probably benign |
Het |
Lrrc73 |
G |
T |
17: 46,566,266 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
G |
A |
10: 103,050,685 (GRCm39) |
S689L |
probably benign |
Het |
Magi2 |
A |
G |
5: 20,910,504 (GRCm39) |
|
probably benign |
Het |
Meis1 |
A |
G |
11: 18,966,278 (GRCm39) |
S32P |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,226,631 (GRCm39) |
|
probably null |
Het |
Mlph |
T |
C |
1: 90,869,456 (GRCm39) |
L486P |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,682,836 (GRCm39) |
E1090G |
probably damaging |
Het |
Mylk |
T |
C |
16: 34,696,005 (GRCm39) |
S247P |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
Nedd4l |
A |
G |
18: 65,331,712 (GRCm39) |
Y636C |
probably damaging |
Het |
Nfib |
A |
T |
4: 82,416,916 (GRCm39) |
Y40N |
probably damaging |
Het |
Niban3 |
A |
G |
8: 72,052,808 (GRCm39) |
D94G |
probably benign |
Het |
Nisch |
T |
C |
14: 30,895,125 (GRCm39) |
D1057G |
probably damaging |
Het |
P3h2 |
T |
C |
16: 25,791,041 (GRCm39) |
H475R |
probably benign |
Het |
Pde6c |
C |
A |
19: 38,150,406 (GRCm39) |
T517K |
possibly damaging |
Het |
Piezo2 |
T |
C |
18: 63,215,986 (GRCm39) |
I994V |
probably benign |
Het |
Pik3r4 |
A |
G |
9: 105,564,351 (GRCm39) |
D1315G |
possibly damaging |
Het |
Pip5k1c |
T |
G |
10: 81,150,828 (GRCm39) |
V46G |
probably damaging |
Het |
Pole |
A |
G |
5: 110,465,711 (GRCm39) |
E1213G |
probably damaging |
Het |
Prl7d1 |
T |
C |
13: 27,896,114 (GRCm39) |
S88G |
possibly damaging |
Het |
Prodh |
T |
A |
16: 17,898,933 (GRCm39) |
N72I |
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,375,930 (GRCm39) |
R907C |
probably damaging |
Het |
Ptger2 |
T |
A |
14: 45,226,423 (GRCm39) |
M1K |
probably null |
Het |
Samd4b |
G |
C |
7: 28,123,041 (GRCm39) |
Q6E |
probably damaging |
Het |
Sec24a |
C |
T |
11: 51,595,212 (GRCm39) |
R916H |
probably benign |
Het |
Slc12a5 |
C |
A |
2: 164,835,947 (GRCm39) |
D865E |
probably benign |
Het |
Slc17a3 |
T |
C |
13: 24,041,181 (GRCm39) |
|
probably benign |
Het |
Ssrp1 |
T |
C |
2: 84,871,529 (GRCm39) |
V317A |
possibly damaging |
Het |
Stim1 |
A |
G |
7: 102,035,307 (GRCm39) |
D95G |
possibly damaging |
Het |
Taok2 |
A |
T |
7: 126,475,110 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
G |
18: 60,949,300 (GRCm39) |
K1205T |
possibly damaging |
Het |
Trim43c |
C |
T |
9: 88,729,530 (GRCm39) |
R325C |
probably damaging |
Het |
Trub2 |
T |
G |
2: 29,667,948 (GRCm39) |
T231P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Uty |
T |
A |
Y: 1,152,054 (GRCm39) |
D724V |
probably damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,301,170 (GRCm39) |
D724G |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,023,781 (GRCm39) |
I2442T |
possibly damaging |
Het |
Wdfy4 |
T |
C |
14: 32,795,542 (GRCm39) |
|
probably null |
Het |
Zfp280b |
A |
G |
10: 75,875,444 (GRCm39) |
H441R |
probably damaging |
Het |
Zfp60 |
A |
T |
7: 27,436,400 (GRCm39) |
Q7L |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,717,028 (GRCm39) |
L406S |
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 |
|
R1847:Adamts1
|
UTSW |
16 |
85,599,114 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- TGCATGTGGAACCGTTTCCTCC -3'
(R):5'- TGTACTTTGACCAAAGAGACTCGCC -3'
Sequencing Primer
(F):5'- GTTTCCTCCACAAACGCC -3'
(R):5'- TCAGTGTGACAGTGAACCCTG -3'
|
Posted On |
2014-04-24 |