Incidental Mutation 'R0179:Adamts1'
ID |
23071 |
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 |
038447-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0179 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
16 |
Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 85592353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 948
(S948N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023610
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
AlphaFold |
P97857 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023610
AA Change: S948N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000023610 Gene: ENSMUSG00000022893 AA Change: S948N
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 |
0.0907 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
98% (81/83) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
A |
T |
12: 88,425,942 (GRCm39) |
M457L |
possibly damaging |
Het |
Adprm |
A |
T |
11: 66,929,051 (GRCm39) |
H313Q |
possibly damaging |
Het |
Adss1 |
T |
C |
12: 112,598,703 (GRCm39) |
I104T |
probably benign |
Het |
Agxt2 |
A |
C |
15: 10,399,134 (GRCm39) |
Q435P |
possibly damaging |
Het |
Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
Ankrd50 |
A |
G |
3: 38,509,463 (GRCm39) |
V968A |
possibly damaging |
Het |
Brf2 |
T |
C |
8: 27,615,896 (GRCm39) |
D163G |
possibly damaging |
Het |
Cd226 |
C |
A |
18: 89,225,263 (GRCm39) |
N53K |
probably benign |
Het |
Cdc42ep2 |
T |
C |
19: 5,968,636 (GRCm39) |
D23G |
probably benign |
Het |
Cdc7 |
T |
C |
5: 107,112,905 (GRCm39) |
S8P |
probably benign |
Het |
Cdh8 |
C |
T |
8: 99,838,344 (GRCm39) |
E499K |
possibly damaging |
Het |
Chd7 |
T |
A |
4: 8,862,516 (GRCm39) |
F2534L |
probably benign |
Het |
Ckb |
T |
C |
12: 111,636,610 (GRCm39) |
T255A |
probably benign |
Het |
Cntnap5c |
G |
T |
17: 58,076,620 (GRCm39) |
W19L |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,057,871 (GRCm39) |
E1854G |
probably benign |
Het |
Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
Cop1 |
A |
G |
1: 159,077,636 (GRCm39) |
D157G |
probably benign |
Het |
Csf2rb |
A |
C |
15: 78,220,572 (GRCm39) |
Q38P |
possibly damaging |
Het |
Ctla2b |
T |
C |
13: 61,044,107 (GRCm39) |
D52G |
possibly damaging |
Het |
Dcaf7 |
A |
T |
11: 105,942,623 (GRCm39) |
D190V |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,058,918 (GRCm39) |
|
probably benign |
Het |
Dgkq |
A |
G |
5: 108,806,066 (GRCm39) |
|
probably benign |
Het |
Dhrs2 |
A |
G |
14: 55,477,933 (GRCm39) |
T222A |
probably damaging |
Het |
Dock1 |
G |
A |
7: 134,700,566 (GRCm39) |
D1109N |
probably damaging |
Het |
E4f1 |
G |
C |
17: 24,670,411 (GRCm39) |
T92S |
possibly damaging |
Het |
Ep400 |
A |
T |
5: 110,816,515 (GRCm39) |
S2669T |
probably damaging |
Het |
Eprs1 |
T |
G |
1: 185,145,744 (GRCm39) |
D1184E |
probably benign |
Het |
Fpr-rs4 |
A |
T |
17: 18,242,289 (GRCm39) |
K99* |
probably null |
Het |
Fzr1 |
A |
T |
10: 81,204,904 (GRCm39) |
|
probably benign |
Het |
Gcc2 |
C |
T |
10: 58,112,472 (GRCm39) |
R1001C |
probably benign |
Het |
Gm4884 |
A |
G |
7: 40,693,252 (GRCm39) |
D407G |
probably benign |
Het |
Golga4 |
A |
T |
9: 118,389,808 (GRCm39) |
|
probably null |
Het |
Gp2 |
T |
G |
7: 119,051,540 (GRCm39) |
D225A |
possibly damaging |
Het |
Gramd1a |
T |
A |
7: 30,841,843 (GRCm39) |
T120S |
probably damaging |
Het |
Hbb-bh2 |
T |
A |
7: 103,488,434 (GRCm39) |
N121I |
probably benign |
Het |
Htr6 |
A |
T |
4: 138,789,437 (GRCm39) |
L276Q |
probably damaging |
Het |
Itga9 |
A |
T |
9: 118,490,454 (GRCm39) |
I262F |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,805,096 (GRCm39) |
|
probably benign |
Het |
Large1 |
T |
C |
8: 73,825,474 (GRCm39) |
N200S |
probably benign |
Het |
Lct |
C |
T |
1: 128,255,422 (GRCm39) |
V207I |
probably benign |
Het |
Marf1 |
C |
A |
16: 13,969,040 (GRCm39) |
L144F |
probably damaging |
Het |
Morc2b |
A |
T |
17: 33,355,956 (GRCm39) |
Y605* |
probably null |
Het |
Mtus1 |
G |
T |
8: 41,455,398 (GRCm39) |
L87I |
possibly damaging |
Het |
Muc2 |
A |
G |
7: 141,302,708 (GRCm39) |
Y17C |
probably damaging |
Het |
Myf5 |
T |
C |
10: 107,321,779 (GRCm39) |
D5G |
possibly damaging |
Het |
Nasp |
C |
T |
4: 116,459,354 (GRCm39) |
V375M |
probably damaging |
Het |
Nr1h2 |
A |
T |
7: 44,201,689 (GRCm39) |
|
probably null |
Het |
Nrg2 |
T |
C |
18: 36,155,468 (GRCm39) |
Q447R |
probably benign |
Het |
Ntn5 |
G |
A |
7: 45,335,737 (GRCm39) |
G56D |
probably damaging |
Het |
Oasl2 |
A |
G |
5: 115,048,973 (GRCm39) |
R138G |
probably benign |
Het |
Or4c29 |
A |
T |
2: 88,740,237 (GRCm39) |
C167S |
possibly damaging |
Het |
Or5b124 |
T |
A |
19: 13,610,504 (GRCm39) |
F10I |
probably damaging |
Het |
Or9k7 |
T |
C |
10: 130,046,207 (GRCm39) |
Y264C |
probably damaging |
Het |
Pcdhb5 |
G |
A |
18: 37,455,612 (GRCm39) |
G664D |
probably damaging |
Het |
Ppp1r15a |
T |
C |
7: 45,174,424 (GRCm39) |
E128G |
probably damaging |
Het |
Prpf19 |
T |
C |
19: 10,875,172 (GRCm39) |
|
probably benign |
Het |
Ptpn3 |
T |
A |
4: 57,270,118 (GRCm39) |
T15S |
probably benign |
Het |
R3hdm2 |
G |
A |
10: 127,330,975 (GRCm39) |
C818Y |
probably damaging |
Het |
Rad51d |
A |
G |
11: 82,780,824 (GRCm39) |
V39A |
possibly damaging |
Het |
Rptor |
A |
T |
11: 119,763,193 (GRCm39) |
T926S |
probably benign |
Het |
Rwdd4a |
G |
A |
8: 47,995,742 (GRCm39) |
D41N |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Spata31g1 |
T |
C |
4: 42,972,214 (GRCm39) |
S516P |
probably benign |
Het |
Ssbp3 |
T |
C |
4: 106,903,585 (GRCm39) |
S334P |
probably damaging |
Het |
Suco |
A |
G |
1: 161,703,874 (GRCm39) |
|
probably benign |
Het |
Synj1 |
T |
C |
16: 90,761,519 (GRCm39) |
K649R |
possibly damaging |
Het |
Tdp2 |
C |
T |
13: 25,024,431 (GRCm39) |
H243Y |
possibly damaging |
Het |
Tinag |
A |
G |
9: 76,904,164 (GRCm39) |
|
probably benign |
Het |
Trerf1 |
T |
C |
17: 47,627,588 (GRCm39) |
|
noncoding transcript |
Het |
Trip10 |
T |
C |
17: 57,569,349 (GRCm39) |
|
probably benign |
Het |
Tsen54 |
A |
T |
11: 115,712,856 (GRCm39) |
S131C |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,523,828 (GRCm39) |
R794* |
probably null |
Het |
Vmn2r59 |
A |
T |
7: 41,696,432 (GRCm39) |
Y103* |
probably null |
Het |
Washc5 |
A |
G |
15: 59,224,379 (GRCm39) |
V460A |
probably benign |
Het |
Wdr87-ps |
A |
G |
7: 29,235,365 (GRCm39) |
|
noncoding transcript |
Het |
Whamm |
A |
G |
7: 81,243,763 (GRCm39) |
T358A |
probably benign |
Het |
Xlr4b |
C |
T |
X: 72,262,277 (GRCm39) |
|
probably benign |
Het |
Zbbx |
C |
T |
3: 74,992,869 (GRCm39) |
|
probably benign |
Het |
Zdhhc23 |
G |
A |
16: 43,794,066 (GRCm39) |
P203S |
probably benign |
Het |
Zfp27 |
T |
A |
7: 29,595,850 (GRCm39) |
E38D |
possibly 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 |
|
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 |
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'- GGTCTTTCAGATGCTACTGTGCCTC -3'
(R):5'- TAACGGACACCCTGCTTCCGAATG -3'
Sequencing Primer
(F):5'- CCTTATCAGAATGTAACTGGCAGG -3'
(R):5'- CTGCTTCCGAATGTGCAAAG -3'
|
Posted On |
2013-04-16 |