Incidental Mutation 'R1598:Adamts1'
| ID |
175981 |
| 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 |
039635-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1598 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 85595399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 260
(Q260*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
| AlphaFold |
P97857 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023610
AA Change: Q523*
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: Q523*
| 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 null
Transcript: ENSMUST00000125897
AA Change: Q260*
|
| SMART Domains |
Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: Q260*
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
G |
A |
11: 80,254,838 (GRCm39) |
Q328* |
probably null |
Het |
| Aadacl4fm4 |
T |
A |
4: 144,396,994 (GRCm39) |
K246I |
possibly damaging |
Het |
| Add2 |
A |
T |
6: 86,075,628 (GRCm39) |
Y259F |
probably benign |
Het |
| Bora |
T |
C |
14: 99,305,840 (GRCm39) |
V403A |
probably benign |
Het |
| Ccnl1 |
G |
A |
3: 65,854,191 (GRCm39) |
R477W |
probably damaging |
Het |
| Cdc25a |
CG |
CGG |
9: 109,708,961 (GRCm39) |
|
probably null |
Het |
| Cdr2l |
T |
C |
11: 115,284,203 (GRCm39) |
S180P |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,385,191 (GRCm39) |
L1889Q |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,869,453 (GRCm39) |
V208A |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,877,131 (GRCm39) |
D1049G |
probably damaging |
Het |
| Coro1a |
A |
T |
7: 126,300,864 (GRCm39) |
N154K |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,474,600 (GRCm39) |
R401S |
probably benign |
Het |
| Cul7 |
A |
T |
17: 46,974,017 (GRCm39) |
Q1434L |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dars1 |
G |
T |
1: 128,301,709 (GRCm39) |
D308E |
probably benign |
Het |
| Dna2 |
T |
A |
10: 62,797,436 (GRCm39) |
F604I |
probably damaging |
Het |
| Dnah1 |
T |
G |
14: 31,023,219 (GRCm39) |
I1033L |
probably benign |
Het |
| Erlin1 |
T |
C |
19: 44,036,112 (GRCm39) |
E206G |
probably damaging |
Het |
| Esrp2 |
T |
A |
8: 106,859,905 (GRCm39) |
E345D |
probably damaging |
Het |
| Foxa1 |
T |
C |
12: 57,589,473 (GRCm39) |
D249G |
possibly damaging |
Het |
| Ghsr |
C |
A |
3: 27,426,426 (GRCm39) |
L161M |
probably benign |
Het |
| Gm57858 |
C |
T |
3: 36,073,146 (GRCm39) |
A379T |
probably damaging |
Het |
| Gpr155 |
C |
A |
2: 73,200,434 (GRCm39) |
V358F |
probably damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,553,348 (GRCm39) |
N178I |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,137,306 (GRCm39) |
I703N |
possibly damaging |
Het |
| Kctd15 |
A |
G |
7: 34,341,417 (GRCm39) |
V170A |
probably damaging |
Het |
| Klhl31 |
A |
T |
9: 77,558,298 (GRCm39) |
Y338F |
possibly damaging |
Het |
| Krt5 |
C |
T |
15: 101,620,876 (GRCm39) |
A124T |
probably benign |
Het |
| Krt72 |
T |
A |
15: 101,688,688 (GRCm39) |
I331F |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,401,490 (GRCm39) |
D388V |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,424,075 (GRCm39) |
V382A |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,852,301 (GRCm39) |
Y1024C |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,287,818 (GRCm39) |
F572L |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,983,997 (GRCm39) |
D987V |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,646,547 (GRCm39) |
T1360A |
probably benign |
Het |
| Oog4 |
A |
G |
4: 143,164,571 (GRCm39) |
L320P |
probably damaging |
Het |
| Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
| Or5m9 |
C |
T |
2: 85,877,657 (GRCm39) |
T277I |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,688,095 (GRCm39) |
I192K |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,498,825 (GRCm39) |
N1558S |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,147,976 (GRCm39) |
E147G |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,101,026 (GRCm39) |
H410L |
probably benign |
Het |
| Plce1 |
A |
C |
19: 38,709,440 (GRCm39) |
D1098A |
probably damaging |
Het |
| Psg25 |
G |
A |
7: 18,265,928 (GRCm39) |
Q16* |
probably null |
Het |
| Psmd9 |
T |
A |
5: 123,379,980 (GRCm39) |
V133E |
probably damaging |
Het |
| Rabgap1 |
C |
T |
2: 37,451,911 (GRCm39) |
S937F |
probably damaging |
Het |
| Rbck1 |
A |
G |
2: 152,165,090 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
C |
G |
3: 95,726,051 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
A |
G |
1: 9,616,137 (GRCm39) |
N130S |
probably benign |
Het |
| Scmh1 |
A |
T |
4: 120,372,327 (GRCm39) |
I377F |
possibly damaging |
Het |
| Skor1 |
G |
T |
9: 63,053,286 (GRCm39) |
R228S |
probably damaging |
Het |
| Slc2a4 |
A |
G |
11: 69,835,844 (GRCm39) |
V335A |
probably benign |
Het |
| Slc4a9 |
G |
A |
18: 36,661,424 (GRCm39) |
W62* |
probably null |
Het |
| Styxl2 |
G |
A |
1: 165,937,828 (GRCm39) |
T77I |
probably benign |
Het |
| Taar9 |
G |
T |
10: 23,985,305 (GRCm39) |
A43D |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 98,961,243 (GRCm39) |
Y645C |
probably damaging |
Het |
| Tpcn2 |
G |
T |
7: 144,830,957 (GRCm39) |
Y129* |
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,710,388 (GRCm39) |
S278P |
possibly damaging |
Het |
| Ttc3 |
T |
C |
16: 94,223,156 (GRCm39) |
W615R |
probably damaging |
Het |
| Ttll5 |
T |
C |
12: 85,910,372 (GRCm39) |
V207A |
probably damaging |
Het |
| Ubr7 |
G |
T |
12: 102,736,153 (GRCm39) |
M358I |
probably damaging |
Het |
| Urb1 |
C |
A |
16: 90,574,328 (GRCm39) |
V918F |
possibly damaging |
Het |
| Vmn2r51 |
G |
A |
7: 9,839,432 (GRCm39) |
T52I |
probably benign |
Het |
| Vmn2r95 |
A |
T |
17: 18,672,575 (GRCm39) |
I771F |
probably benign |
Het |
| Wfdc16 |
T |
C |
2: 164,477,350 (GRCm39) |
S107G |
probably benign |
Het |
| Zmym2 |
A |
G |
14: 57,140,226 (GRCm39) |
T22A |
possibly damaging |
Het |
| Zmym2 |
G |
A |
14: 57,151,524 (GRCm39) |
G470R |
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 |
|
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'- ATGGTCCCCAGCTTCCATGAACAG -3'
(R):5'- TTTGATGGACAAGCCCCAGAATCC -3'
Sequencing Primer
(F):5'- AGCTTCCATGAACAGGAGTC -3'
(R):5'- GAATCCAATCAAGCTCCCTTCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation