Incidental Mutation 'R0517:Adamts1'
| ID |
48253 |
| 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 |
038710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 85597241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 10
(D10Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
| AlphaFold |
P97857 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023610
AA Change: D273Y
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: D273Y
| 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 |
possibly damaging
Transcript: ENSMUST00000125897
AA Change: D10Y
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: D10Y
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
A |
17: 37,292,024 (GRCm39) |
|
probably benign |
Het |
| Acer1 |
T |
C |
17: 57,262,569 (GRCm39) |
T194A |
probably benign |
Het |
| Adamts7 |
T |
C |
9: 90,081,911 (GRCm39) |
V1612A |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,468,282 (GRCm39) |
S373T |
probably damaging |
Het |
| Asic5 |
A |
T |
3: 81,916,833 (GRCm39) |
I266F |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,901,232 (GRCm39) |
I274K |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,221,126 (GRCm39) |
Q238K |
possibly damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
| Cerk |
G |
A |
15: 86,040,849 (GRCm39) |
T170I |
probably damaging |
Het |
| Cyp27b1 |
T |
C |
10: 126,885,985 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,792 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,533,968 (GRCm39) |
S75P |
probably damaging |
Het |
| Dhx9 |
C |
T |
1: 153,354,662 (GRCm39) |
A146T |
possibly damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,935,410 (GRCm39) |
D171G |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,662,082 (GRCm39) |
N449S |
probably benign |
Het |
| Eps8l3 |
T |
C |
3: 107,790,776 (GRCm39) |
S189P |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,284,062 (GRCm39) |
E381G |
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,870,799 (GRCm39) |
M473V |
possibly damaging |
Het |
| Fgf14 |
G |
A |
14: 124,221,196 (GRCm39) |
P203S |
probably damaging |
Het |
| Foxf2 |
C |
T |
13: 31,810,226 (GRCm39) |
A55V |
unknown |
Het |
| Galnt5 |
T |
G |
2: 57,925,385 (GRCm39) |
|
probably benign |
Het |
| Glis2 |
T |
C |
16: 4,429,416 (GRCm39) |
L181P |
probably damaging |
Het |
| Gm10000 |
T |
G |
12: 104,442,667 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,869,563 (GRCm39) |
S2959P |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,852 (GRCm39) |
N262D |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,841,665 (GRCm39) |
L526P |
probably damaging |
Het |
| Mapk1 |
A |
T |
16: 16,833,910 (GRCm39) |
I88F |
probably benign |
Het |
| Mpg |
A |
T |
11: 32,181,853 (GRCm39) |
H287L |
probably benign |
Het |
| Mpp4 |
A |
T |
1: 59,163,886 (GRCm39) |
Y489* |
probably null |
Het |
| Mpzl1 |
T |
C |
1: 165,429,359 (GRCm39) |
E224G |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,702,425 (GRCm39) |
|
probably null |
Het |
| Odad2 |
A |
C |
18: 7,223,621 (GRCm39) |
L474R |
probably damaging |
Het |
| Or13p8 |
T |
A |
4: 118,583,831 (GRCm39) |
I129K |
probably damaging |
Het |
| Or5m9 |
T |
C |
2: 85,877,548 (GRCm39) |
S241P |
probably damaging |
Het |
| Paip1 |
T |
A |
13: 119,584,326 (GRCm39) |
F196I |
probably damaging |
Het |
| Pde3a |
A |
T |
6: 141,444,383 (GRCm39) |
K1064* |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,847,196 (GRCm39) |
|
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,723,881 (GRCm39) |
S210G |
probably benign |
Het |
| Rbm15 |
A |
T |
3: 107,238,685 (GRCm39) |
L571Q |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,132,751 (GRCm39) |
T1194S |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Serpina1e |
G |
A |
12: 103,915,486 (GRCm39) |
T240I |
probably benign |
Het |
| Setx |
T |
G |
2: 29,047,145 (GRCm39) |
S1874R |
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,758,477 (GRCm39) |
T256K |
possibly damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,542,366 (GRCm39) |
V300A |
probably damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,178 (GRCm39) |
Y59C |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,430,158 (GRCm39) |
F404L |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,394,452 (GRCm39) |
K62* |
probably null |
Het |
| Tas2r139 |
A |
C |
6: 42,118,425 (GRCm39) |
T186P |
probably damaging |
Het |
| Tasor2 |
T |
A |
13: 3,616,964 (GRCm39) |
T2367S |
possibly damaging |
Het |
| Tc2n |
C |
T |
12: 101,615,454 (GRCm39) |
S457N |
probably damaging |
Het |
| Tox4 |
A |
T |
14: 52,530,085 (GRCm39) |
S582C |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,747,133 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
G |
T |
7: 103,797,845 (GRCm39) |
Q551K |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,119,435 (GRCm39) |
T205A |
probably benign |
Het |
| Urb1 |
G |
A |
16: 90,574,310 (GRCm39) |
Q924* |
probably null |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,720 (GRCm39) |
L94P |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,815,949 (GRCm39) |
Y802C |
probably damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,269,744 (GRCm39) |
|
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 |
|
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'- TTCCGAAGGGTGAGAGCTGCATTG -3'
(R):5'- CACTCAGGCTGTGGAGTCTTCAAAG -3'
Sequencing Primer
(F):5'- TGGAGGTAACTTCTGGTCCC -3'
(R):5'- TCTGttgctttttttgttttgttttg -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation