Incidental Mutation 'R0135:Adamts1'
| ID |
21911 |
| 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 |
038420-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0135 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 85595591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
| AlphaFold |
P97857 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023610
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
| 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: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
100% (80/80) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,515 (GRCm39) |
F207S |
probably damaging |
Het |
| Abhd8 |
T |
A |
8: 71,910,718 (GRCm39) |
K363N |
probably benign |
Het |
| Adam11 |
T |
A |
11: 102,667,399 (GRCm39) |
V653E |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,155,558 (GRCm39) |
S154G |
possibly damaging |
Het |
| Afm |
G |
T |
5: 90,698,181 (GRCm39) |
V528L |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,053,574 (GRCm39) |
H145Y |
probably benign |
Het |
| Ankmy2 |
C |
A |
12: 36,220,434 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,164,247 (GRCm39) |
|
probably benign |
Het |
| Arhgap28 |
T |
C |
17: 68,171,583 (GRCm39) |
D396G |
probably damaging |
Het |
| B430203G13Rik |
T |
C |
12: 17,974,489 (GRCm39) |
|
noncoding transcript |
Het |
| Bean1 |
C |
T |
8: 104,943,807 (GRCm39) |
P121S |
probably damaging |
Het |
| Bok |
T |
C |
1: 93,614,229 (GRCm39) |
S21P |
probably damaging |
Het |
| Brwd1 |
A |
C |
16: 95,848,304 (GRCm39) |
N572K |
probably damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,864 (GRCm39) |
V52E |
probably damaging |
Het |
| Cblif |
G |
T |
19: 11,735,118 (GRCm39) |
C246F |
probably damaging |
Het |
| Cdr2l |
C |
A |
11: 115,284,497 (GRCm39) |
P278T |
probably damaging |
Het |
| Cnga4 |
T |
A |
7: 105,056,055 (GRCm39) |
I219N |
probably damaging |
Het |
| Cpne2 |
C |
T |
8: 95,281,553 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,379 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dgcr2 |
A |
G |
16: 17,676,306 (GRCm39) |
S152P |
probably damaging |
Het |
| Dstyk |
A |
T |
1: 132,390,672 (GRCm39) |
D828V |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,937,877 (GRCm39) |
S582P |
probably damaging |
Het |
| Engase |
T |
C |
11: 118,375,304 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,918,073 (GRCm39) |
D1450G |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,208,552 (GRCm39) |
I467N |
probably damaging |
Het |
| Fhdc1 |
A |
T |
3: 84,352,925 (GRCm39) |
Y767N |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,614,204 (GRCm39) |
D105G |
probably damaging |
Het |
| Gaa |
C |
T |
11: 119,169,716 (GRCm39) |
T590I |
probably benign |
Het |
| Gabrr1 |
T |
A |
4: 33,160,224 (GRCm39) |
S303T |
probably damaging |
Het |
| Garre1 |
T |
C |
7: 33,945,382 (GRCm39) |
I499M |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,143,551 (GRCm39) |
I196V |
probably benign |
Het |
| Grm6 |
G |
A |
11: 50,744,050 (GRCm39) |
E174K |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,874,062 (GRCm39) |
L2144R |
probably damaging |
Het |
| Itpr1 |
A |
T |
6: 108,465,443 (GRCm39) |
|
probably benign |
Het |
| Kcns1 |
A |
T |
2: 164,006,875 (GRCm39) |
S363T |
possibly damaging |
Het |
| Kif13a |
A |
T |
13: 46,947,419 (GRCm39) |
V855E |
probably damaging |
Het |
| Krt42 |
T |
C |
11: 100,153,985 (GRCm39) |
T424A |
possibly damaging |
Het |
| Lct |
A |
T |
1: 128,212,860 (GRCm39) |
F1931Y |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,159,251 (GRCm39) |
V1563E |
probably damaging |
Het |
| Lrrc37 |
C |
A |
11: 103,508,873 (GRCm39) |
|
probably benign |
Het |
| Lzts2 |
T |
C |
19: 45,014,626 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
C |
T |
2: 25,456,932 (GRCm39) |
R615Q |
possibly damaging |
Het |
| Mei1 |
C |
T |
15: 81,956,170 (GRCm39) |
Q133* |
probably null |
Het |
| Mif4gd |
T |
C |
11: 115,499,291 (GRCm39) |
E197G |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,640,462 (GRCm39) |
S544T |
probably benign |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Or52a5 |
T |
A |
7: 103,426,970 (GRCm39) |
D194V |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,464,663 (GRCm39) |
T114A |
probably benign |
Het |
| Pigk |
G |
T |
3: 152,450,343 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,784,045 (GRCm39) |
F197Y |
possibly damaging |
Het |
| Pld5 |
A |
T |
1: 175,798,155 (GRCm39) |
F415I |
probably damaging |
Het |
| Pnpla5 |
A |
G |
15: 83,998,150 (GRCm39) |
L364P |
probably damaging |
Het |
| Prrc2c |
G |
A |
1: 162,543,052 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
C |
T |
10: 10,426,584 (GRCm39) |
D121N |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,357,106 (GRCm39) |
T79S |
probably benign |
Het |
| Reln |
G |
T |
5: 22,333,647 (GRCm39) |
N258K |
probably damaging |
Het |
| Retsat |
A |
G |
6: 72,579,755 (GRCm39) |
T177A |
probably damaging |
Het |
| Serpinf2 |
T |
A |
11: 75,327,219 (GRCm39) |
H236L |
probably damaging |
Het |
| Slc26a6 |
A |
T |
9: 108,737,794 (GRCm39) |
|
probably benign |
Het |
| Slitrk1 |
T |
A |
14: 109,149,061 (GRCm39) |
E550V |
probably benign |
Het |
| Smarcd3 |
A |
T |
5: 24,800,497 (GRCm39) |
|
probably benign |
Het |
| Spdye4a |
A |
C |
5: 143,210,857 (GRCm39) |
|
probably null |
Het |
| Susd2 |
C |
T |
10: 75,474,348 (GRCm39) |
G572D |
probably damaging |
Het |
| Tcaf3 |
C |
T |
6: 42,566,692 (GRCm39) |
R799K |
probably benign |
Het |
| Tg |
A |
G |
15: 66,566,719 (GRCm39) |
S1256G |
probably benign |
Het |
| Them4 |
A |
T |
3: 94,230,877 (GRCm39) |
|
probably benign |
Het |
| Tmem210 |
C |
T |
2: 25,178,480 (GRCm39) |
A47V |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,955,616 (GRCm39) |
Y47H |
probably benign |
Het |
| Tnik |
T |
G |
3: 28,661,394 (GRCm39) |
N598K |
possibly damaging |
Het |
| Ttc3 |
A |
G |
16: 94,263,127 (GRCm39) |
N1498D |
possibly damaging |
Het |
| Ttll4 |
C |
A |
1: 74,719,087 (GRCm39) |
H313N |
possibly damaging |
Het |
| Vipr2 |
A |
G |
12: 116,106,447 (GRCm39) |
I348V |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,758,129 (GRCm39) |
V2A |
probably damaging |
Het |
| Vps72 |
G |
A |
3: 95,026,508 (GRCm39) |
R151K |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,350,968 (GRCm39) |
V1561A |
probably damaging |
Het |
| Zfp658 |
C |
A |
7: 43,223,019 (GRCm39) |
Y431* |
probably null |
Het |
| Zkscan2 |
T |
C |
7: 123,079,864 (GRCm39) |
K698E |
possibly 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 |
|
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 |
|
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'- TTCACGCACTTGCCACTGACAC -3'
(R):5'- TGCTCTCCAGCTTAGACCATAGCC -3'
Sequencing Primer
(F):5'- CATCTGCCCAAGGGAAGTG -3'
(R):5'- GTCCTTCCTAGATAATGGACACGG -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation