Incidental Mutation 'R8712:Adamts1'
| ID |
669679 |
| 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 |
068566-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8712 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85594896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 617
(N617K)
|
| 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: N617K
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: N617K
| 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
AA Change: N354K
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: N354K
| 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 |
|
| Meta Mutation Damage Score |
0.0708 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
A |
T |
18: 80,174,185 (GRCm39) |
C75S |
probably damaging |
Het |
| Agmo |
T |
C |
12: 37,407,673 (GRCm39) |
F186L |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,749,872 (GRCm39) |
Y122C |
|
Het |
| Ahnak2 |
T |
C |
12: 112,750,709 (GRCm39) |
E71G |
|
Het |
| Aldh5a1 |
A |
G |
13: 25,102,524 (GRCm39) |
V313A |
probably damaging |
Het |
| Ankib1 |
C |
A |
5: 3,822,643 (GRCm39) |
C21F |
probably benign |
Het |
| Aqr |
A |
G |
2: 113,949,358 (GRCm39) |
Y947H |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,103,547 (GRCm39) |
Y991F |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,365,923 (GRCm39) |
T309M |
possibly damaging |
Het |
| Blzf1 |
T |
A |
1: 164,125,859 (GRCm39) |
D259V |
possibly damaging |
Het |
| Cacng5 |
T |
C |
11: 107,772,510 (GRCm39) |
I113V |
probably benign |
Het |
| Catsper3 |
T |
C |
13: 55,953,657 (GRCm39) |
M269T |
probably benign |
Het |
| Ccdc142 |
A |
C |
6: 83,079,233 (GRCm39) |
Y190S |
probably damaging |
Het |
| Ccdc159 |
C |
A |
9: 21,845,051 (GRCm39) |
Q306K |
probably benign |
Het |
| Ccdc180 |
A |
T |
4: 45,920,842 (GRCm39) |
|
probably null |
Het |
| Cebpz |
A |
G |
17: 79,229,081 (GRCm39) |
F955S |
possibly damaging |
Het |
| Cftr |
C |
T |
6: 18,274,696 (GRCm39) |
T938I |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,013,133 (GRCm39) |
K973R |
probably benign |
Het |
| Cyp2c29 |
T |
C |
19: 39,310,138 (GRCm39) |
|
probably benign |
Het |
| Ddx1 |
A |
G |
12: 13,293,859 (GRCm39) |
|
probably benign |
Het |
| Duox2 |
A |
C |
2: 122,119,826 (GRCm39) |
Y867* |
probably null |
Het |
| Ereg |
T |
C |
5: 91,237,013 (GRCm39) |
Y111H |
possibly damaging |
Het |
| Esrrb |
T |
A |
12: 86,565,724 (GRCm39) |
L417Q |
probably damaging |
Het |
| Fbxw7 |
G |
A |
3: 84,859,684 (GRCm39) |
R2H |
unknown |
Het |
| Galnt6 |
C |
T |
15: 100,592,501 (GRCm39) |
V569I |
probably benign |
Het |
| Gm14226 |
G |
A |
2: 154,866,094 (GRCm39) |
C17Y |
unknown |
Het |
| Gpr150 |
T |
G |
13: 76,204,642 (GRCm39) |
D101A |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,565,296 (GRCm39) |
L1004Q |
probably benign |
Het |
| Gtf2a1l |
T |
A |
17: 89,022,351 (GRCm39) |
D447E |
probably damaging |
Het |
| Gtf2ird1 |
C |
T |
5: 134,444,064 (GRCm39) |
V64M |
probably damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,074 (GRCm39) |
W641R |
|
Het |
| Ifi214 |
T |
A |
1: 173,355,486 (GRCm39) |
E107D |
possibly damaging |
Het |
| Kif19a |
T |
C |
11: 114,675,599 (GRCm39) |
V357A |
probably damaging |
Het |
| Klhdc7b |
T |
A |
15: 89,271,025 (GRCm39) |
S636T |
probably benign |
Het |
| Klhl25 |
C |
T |
7: 75,515,420 (GRCm39) |
R109C |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,853,124 (GRCm39) |
E835G |
probably benign |
Het |
| Marchf1 |
A |
G |
8: 66,921,000 (GRCm39) |
K226E |
probably damaging |
Het |
| Mcpt1 |
T |
C |
14: 56,256,170 (GRCm39) |
|
probably benign |
Het |
| Myrf |
C |
A |
19: 10,192,434 (GRCm39) |
R639L |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,604 (GRCm39) |
H544R |
possibly damaging |
Het |
| Nccrp1 |
T |
C |
7: 28,245,769 (GRCm39) |
I132V |
probably benign |
Het |
| Nprl3 |
C |
T |
11: 32,187,334 (GRCm39) |
V333I |
possibly damaging |
Het |
| Or13a25 |
C |
T |
7: 140,248,052 (GRCm39) |
S277L |
possibly damaging |
Het |
| Or14n1-ps1 |
T |
C |
7: 86,092,923 (GRCm39) |
S245P |
probably damaging |
Het |
| Or2o1 |
T |
C |
11: 49,051,297 (GRCm39) |
M152T |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,671 (GRCm39) |
S104T |
probably benign |
Het |
| Or4b1d |
A |
T |
2: 89,969,114 (GRCm39) |
I123N |
probably damaging |
Het |
| Or4f62 |
A |
T |
2: 111,986,934 (GRCm39) |
I213F |
probably damaging |
Het |
| Or52h1 |
T |
C |
7: 103,829,025 (GRCm39) |
N197D |
probably damaging |
Het |
| Or56a41 |
C |
A |
7: 104,741,808 (GRCm39) |
V73F |
possibly damaging |
Het |
| Or8c15 |
T |
C |
9: 38,121,099 (GRCm39) |
V248A |
probably benign |
Het |
| Or8d6 |
T |
C |
9: 39,853,891 (GRCm39) |
S112P |
probably damaging |
Het |
| Otx2 |
A |
G |
14: 48,896,521 (GRCm39) |
M179T |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,265,309 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
T |
A |
7: 45,011,129 (GRCm39) |
T34S |
probably benign |
Het |
| Prkcsh |
T |
C |
9: 21,924,375 (GRCm39) |
Y502H |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,301,775 (GRCm39) |
E937G |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,600,976 (GRCm39) |
I1661N |
unknown |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,587 (GRCm39) |
M446K |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,017,236 (GRCm39) |
I231V |
probably benign |
Het |
| Slc12a9 |
C |
T |
5: 137,325,916 (GRCm39) |
V270I |
probably damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,225,112 (GRCm39) |
K67E |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,380,646 (GRCm39) |
D524G |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,687,526 (GRCm39) |
D418G |
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,196,743 (GRCm39) |
T296A |
probably benign |
Het |
| Ssu2 |
T |
C |
6: 112,361,399 (GRCm39) |
E19G |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,600,170 (GRCm39) |
N90S |
probably damaging |
Het |
| Tex24 |
A |
G |
8: 27,834,652 (GRCm39) |
Q60R |
possibly damaging |
Het |
| Tlcd1 |
T |
A |
11: 78,070,470 (GRCm39) |
*128R |
probably null |
Het |
| Tti1 |
A |
C |
2: 157,834,930 (GRCm39) |
L1010R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,567,682 (GRCm39) |
L27737P |
probably damaging |
Het |
| Ubqln5 |
T |
A |
7: 103,778,322 (GRCm39) |
K167N |
probably benign |
Het |
| Unkl |
A |
G |
17: 25,450,689 (GRCm39) |
I492V |
possibly damaging |
Het |
| Vmn1r8 |
G |
A |
6: 57,013,665 (GRCm39) |
V239I |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,811,397 (GRCm39) |
L494I |
probably benign |
Het |
| Vmn2r54 |
G |
T |
7: 12,369,877 (GRCm39) |
T62K |
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 |
|
|
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 |
|
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'- GTACTTGGGTGTCCACTCTACAG -3'
(R):5'- CCATTTAGACTCCTGTTCATGGAAG -3'
Sequencing Primer
(F):5'- ACTCTACAGTGGGCTCATTCC -3'
(R):5'- ACTCCTGTTCATGGAAGCTGGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation