Incidental Mutation 'R0526:Adamts1'
| ID |
48955 |
| 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 |
038719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0526 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 85599260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 113
(S113R)
|
| 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: S113R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: S113R
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,182,535 (GRCm39) |
N230I |
possibly damaging |
Het |
| 4933427D14Rik |
G |
T |
11: 72,060,609 (GRCm39) |
Q687K |
probably damaging |
Het |
| Actrt2 |
A |
G |
4: 154,751,869 (GRCm39) |
L89P |
probably damaging |
Het |
| Agxt2 |
G |
T |
15: 10,373,948 (GRCm39) |
C118F |
probably damaging |
Het |
| Akap8 |
G |
A |
17: 32,536,266 (GRCm39) |
T49I |
probably benign |
Het |
| Alk |
A |
T |
17: 72,176,748 (GRCm39) |
W1519R |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,536,803 (GRCm39) |
F12Y |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,167,558 (GRCm39) |
C131R |
probably damaging |
Het |
| Atp8b4 |
A |
G |
2: 126,269,283 (GRCm39) |
L168P |
probably damaging |
Het |
| Blm |
G |
T |
7: 80,155,641 (GRCm39) |
S346* |
probably null |
Het |
| Ccnt2 |
T |
G |
1: 127,727,182 (GRCm39) |
C199G |
probably damaging |
Het |
| Cd151 |
A |
T |
7: 141,050,504 (GRCm39) |
H219L |
probably damaging |
Het |
| Cd200r2 |
A |
T |
16: 44,735,410 (GRCm39) |
R248S |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,282,078 (GRCm39) |
D822G |
possibly damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,046,729 (GRCm39) |
|
probably null |
Het |
| Cluh |
C |
A |
11: 74,556,812 (GRCm39) |
L951I |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,562,494 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
C |
A |
3: 130,270,043 (GRCm39) |
P197Q |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,963,742 (GRCm39) |
S636R |
possibly damaging |
Het |
| Ect2l |
C |
A |
10: 18,075,688 (GRCm39) |
C66F |
possibly damaging |
Het |
| Elac2 |
T |
C |
11: 64,890,262 (GRCm39) |
M671T |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,969,614 (GRCm39) |
N143S |
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,636,430 (GRCm39) |
V228A |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,639,051 (GRCm39) |
Y1084H |
probably damaging |
Het |
| Fcgr4 |
T |
A |
1: 170,856,760 (GRCm39) |
L209Q |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,450,000 (GRCm39) |
S83N |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,349,215 (GRCm39) |
M664K |
probably benign |
Het |
| Il27ra |
A |
T |
8: 84,766,128 (GRCm39) |
S219T |
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,487,690 (GRCm39) |
D591G |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,826,862 (GRCm39) |
V800A |
probably damaging |
Het |
| Lmo7 |
T |
A |
14: 102,137,996 (GRCm39) |
D666E |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,678,295 (GRCm39) |
D520G |
probably damaging |
Het |
| Lrriq3 |
T |
A |
3: 154,893,934 (GRCm39) |
M545K |
probably benign |
Het |
| Lsm5 |
T |
A |
6: 56,680,310 (GRCm39) |
D44V |
probably damaging |
Het |
| Man1c1 |
G |
T |
4: 134,296,379 (GRCm39) |
Y430* |
probably null |
Het |
| Map4 |
T |
A |
9: 109,866,346 (GRCm39) |
|
probably null |
Het |
| Megf6 |
A |
G |
4: 154,343,398 (GRCm39) |
K561R |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,229,680 (GRCm39) |
Y173H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,190,823 (GRCm39) |
S791R |
possibly damaging |
Het |
| Nol11 |
C |
A |
11: 107,075,597 (GRCm39) |
E144* |
probably null |
Het |
| Ntng2 |
C |
T |
2: 29,087,074 (GRCm39) |
R416Q |
probably damaging |
Het |
| Nxpe3 |
T |
A |
16: 55,686,880 (GRCm39) |
I43F |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,837 (GRCm39) |
V164E |
possibly damaging |
Het |
| Or5t5 |
A |
T |
2: 86,616,691 (GRCm39) |
T206S |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,808,999 (GRCm39) |
I64V |
probably damaging |
Het |
| Prf1 |
G |
A |
10: 61,136,033 (GRCm39) |
R103H |
probably benign |
Het |
| Rest |
A |
G |
5: 77,428,874 (GRCm39) |
D431G |
probably damaging |
Het |
| Serpina10 |
A |
T |
12: 103,583,127 (GRCm39) |
L439Q |
probably damaging |
Het |
| Sgk3 |
T |
G |
1: 9,951,804 (GRCm39) |
V176G |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,000,454 (GRCm39) |
S188P |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,338,392 (GRCm39) |
I336T |
probably damaging |
Het |
| Strip1 |
C |
T |
3: 107,527,355 (GRCm39) |
|
probably null |
Het |
| Syt4 |
T |
C |
18: 31,576,799 (GRCm39) |
E185G |
possibly damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tgfbr3l |
G |
T |
8: 4,299,439 (GRCm39) |
R74L |
possibly damaging |
Het |
| Thoc7 |
A |
G |
14: 13,949,282 (GRCm38) |
M194T |
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,879,129 (GRCm39) |
Y989H |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,233,161 (GRCm39) |
V134I |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,320,457 (GRCm39) |
V738E |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,770,240 (GRCm39) |
I342F |
probably damaging |
Het |
| Vmn2r69 |
A |
T |
7: 85,060,711 (GRCm39) |
V291D |
probably damaging |
Het |
| Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,928,953 (GRCm39) |
T1292A |
probably damaging |
Het |
| Yes1 |
T |
A |
5: 32,812,584 (GRCm39) |
C285S |
probably benign |
Het |
| Zbed6 |
T |
C |
1: 133,586,472 (GRCm39) |
I288M |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,371,263 (GRCm39) |
N206S |
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 |
|
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'- GCTGGCTGAATGAAGAACTCCTCTC -3'
(R):5'- TCTGTCCGCACACATGCTGTTG -3'
Sequencing Primer
(F):5'- GAAGAACTCCTCTCCTTGTAGGTAG -3'
(R):5'- CCATAACAATGCTGCTATGTGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation