Incidental Mutation 'R4972:Adamts1'
| ID |
384552 |
| 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 |
042567-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85592833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 525
(T525I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
| AlphaFold |
P97857 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023610
AA Change: T788I
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: T788I
| 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 damaging
Transcript: ENSMUST00000125897
AA Change: T525I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: T525I
| 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 |
0.2017 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.2%
|
| Validation Efficiency |
93% (82/88) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,383,361 (GRCm39) |
I868N |
possibly damaging |
Het |
| A730013G03Rik |
C |
G |
1: 192,516,081 (GRCm39) |
|
noncoding transcript |
Het |
| Actl11 |
A |
G |
9: 107,807,155 (GRCm39) |
T493A |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,219,813 (GRCm39) |
D686G |
probably benign |
Het |
| Adcy10 |
T |
A |
1: 165,384,431 (GRCm39) |
L1064H |
probably damaging |
Het |
| AI661453 |
A |
T |
17: 47,777,324 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,889,900 (GRCm39) |
S433T |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,334,857 (GRCm39) |
N355K |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,992,377 (GRCm39) |
M1125K |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,339,869 (GRCm39) |
M805V |
probably benign |
Het |
| Cep89 |
T |
G |
7: 35,131,977 (GRCm39) |
L637R |
probably damaging |
Het |
| Col24a1 |
A |
T |
3: 145,215,439 (GRCm39) |
I1444F |
probably benign |
Het |
| Commd4 |
A |
T |
9: 57,062,732 (GRCm39) |
S175T |
probably benign |
Het |
| Coq7 |
A |
G |
7: 118,109,340 (GRCm39) |
V236A |
unknown |
Het |
| Dctn2 |
C |
T |
10: 127,112,572 (GRCm39) |
R176C |
probably damaging |
Het |
| Ddx31 |
T |
C |
2: 28,750,782 (GRCm39) |
F389L |
probably damaging |
Het |
| Dgkz |
C |
T |
2: 91,776,047 (GRCm39) |
R72H |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,670,206 (GRCm39) |
D24G |
probably damaging |
Het |
| Dydc1 |
A |
G |
14: 40,804,295 (GRCm39) |
T106A |
probably benign |
Het |
| F13b |
A |
G |
1: 139,438,661 (GRCm39) |
Y355C |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,361,957 (GRCm39) |
M407V |
probably benign |
Het |
| Fzd5 |
C |
A |
1: 64,775,171 (GRCm39) |
V197L |
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,619,103 (GRCm39) |
E70* |
probably null |
Het |
| Gpr171 |
A |
T |
3: 59,005,386 (GRCm39) |
F130I |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,770,484 (GRCm39) |
N763D |
probably damaging |
Het |
| Gsta2 |
A |
T |
9: 78,244,961 (GRCm39) |
M51K |
probably damaging |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,521 (GRCm39) |
|
noncoding transcript |
Het |
| Hacd3 |
A |
T |
9: 64,897,718 (GRCm39) |
I298N |
probably damaging |
Het |
| Il18r1 |
C |
T |
1: 40,530,224 (GRCm39) |
P317L |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,915,037 (GRCm39) |
|
probably benign |
Het |
| Kif6 |
A |
G |
17: 50,014,647 (GRCm39) |
D250G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,570,079 (GRCm39) |
C82S |
probably damaging |
Het |
| Mob4 |
C |
G |
1: 55,190,161 (GRCm39) |
L135V |
possibly damaging |
Het |
| Mpzl3 |
T |
A |
9: 44,973,554 (GRCm39) |
|
probably benign |
Het |
| Mvp |
T |
C |
7: 126,588,970 (GRCm39) |
D599G |
probably damaging |
Het |
| Myo1a |
T |
C |
10: 127,552,178 (GRCm39) |
Y766H |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,760,264 (GRCm39) |
H260R |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,992,667 (GRCm39) |
R313H |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,978,216 (GRCm39) |
D211V |
probably damaging |
Het |
| Nefl |
G |
T |
14: 68,324,212 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 40,976,375 (GRCm39) |
D16E |
probably benign |
Het |
| Nlrp9a |
G |
T |
7: 26,269,964 (GRCm39) |
C797F |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,163 (GRCm39) |
V113E |
probably damaging |
Het |
| Or5p5 |
A |
G |
7: 107,413,953 (GRCm39) |
Q56R |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,573,130 (GRCm39) |
D500G |
probably benign |
Het |
| Pgs1 |
T |
C |
11: 117,896,719 (GRCm39) |
|
probably null |
Het |
| Polr3b |
T |
A |
10: 84,473,988 (GRCm39) |
I189N |
probably damaging |
Het |
| Ppwd1 |
A |
T |
13: 104,356,616 (GRCm39) |
S300T |
probably benign |
Het |
| Prl2c2 |
A |
C |
13: 13,176,755 (GRCm39) |
N55K |
possibly damaging |
Het |
| Prpf19 |
C |
T |
19: 10,876,709 (GRCm39) |
|
probably benign |
Het |
| Prph2 |
G |
T |
17: 47,221,733 (GRCm39) |
L37F |
possibly damaging |
Het |
| Ptprg |
G |
T |
14: 12,226,427 (GRCm38) |
R565L |
possibly damaging |
Het |
| Rab8a |
C |
T |
8: 72,925,119 (GRCm39) |
T74M |
probably damaging |
Het |
| Rexo1 |
A |
T |
10: 80,385,527 (GRCm39) |
F510L |
probably damaging |
Het |
| Rexo2 |
G |
T |
9: 48,390,689 (GRCm39) |
T51K |
probably damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,046,209 (GRCm39) |
K147R |
possibly damaging |
Het |
| Skint6 |
A |
G |
4: 112,692,265 (GRCm39) |
I1062T |
probably benign |
Het |
| Spag16 |
C |
T |
1: 70,764,087 (GRCm39) |
R636W |
probably damaging |
Het |
| Spata16 |
T |
C |
3: 26,894,872 (GRCm39) |
I307T |
possibly damaging |
Het |
| Speer4f2 |
T |
G |
5: 17,579,423 (GRCm39) |
I74S |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,087,778 (GRCm39) |
Y1767F |
possibly damaging |
Het |
| Swt1 |
T |
C |
1: 151,299,293 (GRCm39) |
S7G |
probably benign |
Het |
| Tex9 |
A |
G |
9: 72,385,620 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
C |
A |
1: 130,116,309 (GRCm39) |
P1354H |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,319,416 (GRCm39) |
D467G |
probably damaging |
Het |
| Tmco5b |
A |
C |
2: 113,127,338 (GRCm39) |
D303A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,665,978 (GRCm39) |
V876A |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,774,027 (GRCm39) |
E245K |
probably benign |
Het |
| Vezt |
C |
T |
10: 93,836,212 (GRCm39) |
|
probably null |
Het |
| Zscan20 |
G |
A |
4: 128,486,152 (GRCm39) |
P183S |
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 |
|
|
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'- ATGTCTCTGCACTGCACTAC -3'
(R):5'- TTCTTTGTCCACAGACCTGG -3'
Sequencing Primer
(F):5'- AACCTGAGCCGCATGTCTTG -3'
(R):5'- CAGACCTGGGTATCATGACATTGTC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation