Incidental Mutation 'R5860:Adamts1'
| ID |
453872 |
| 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 |
044072-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5860 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85595432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 249
(C249R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
| AlphaFold |
P97857 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023610
AA Change: C512R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: C512R
| 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: C249R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: C249R
| 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 |
0.9600 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.8%
|
| Validation Efficiency |
97% (75/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568A12Rik |
A |
G |
1: 34,524,661 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
T |
C |
6: 128,518,024 (GRCm39) |
T1421A |
probably benign |
Het |
| Actr8 |
T |
A |
14: 29,708,242 (GRCm39) |
Y150* |
probably null |
Het |
| Adgre1 |
T |
A |
17: 57,752,034 (GRCm39) |
I594N |
probably damaging |
Het |
| Atf6 |
A |
T |
1: 170,669,344 (GRCm39) |
L119H |
probably damaging |
Het |
| Atf6 |
G |
A |
1: 170,669,345 (GRCm39) |
L119F |
possibly damaging |
Het |
| B3gat2 |
G |
A |
1: 23,854,400 (GRCm39) |
W33* |
probably null |
Het |
| Bach2 |
A |
G |
4: 32,580,268 (GRCm39) |
D831G |
probably damaging |
Het |
| Ccnk |
A |
T |
12: 108,153,466 (GRCm39) |
I76F |
probably damaging |
Het |
| Cdyl |
A |
C |
13: 36,042,066 (GRCm39) |
K368T |
possibly damaging |
Het |
| Chi3l1 |
A |
G |
1: 134,112,909 (GRCm39) |
T114A |
probably benign |
Het |
| Cnppd1 |
A |
G |
1: 75,113,131 (GRCm39) |
V379A |
probably benign |
Het |
| Col11a2 |
C |
A |
17: 34,283,159 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
T |
C |
2: 91,854,399 (GRCm39) |
S18G |
probably benign |
Het |
| Crybg3 |
A |
C |
16: 59,385,632 (GRCm39) |
D197E |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,527 (GRCm39) |
|
probably benign |
Het |
| Cthrc1 |
T |
C |
15: 38,950,080 (GRCm39) |
C146R |
probably damaging |
Het |
| Cyp2c39 |
A |
T |
19: 39,525,270 (GRCm39) |
D191V |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,421,242 (GRCm39) |
A393T |
probably damaging |
Het |
| Dhx30 |
G |
A |
9: 109,913,645 (GRCm39) |
T1126I |
probably damaging |
Het |
| Dock2 |
C |
T |
11: 34,206,562 (GRCm39) |
G1345R |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,228,081 (GRCm39) |
E425G |
probably damaging |
Het |
| Dynlt2b |
A |
G |
16: 32,247,614 (GRCm39) |
Y143C |
probably damaging |
Het |
| Exosc8 |
C |
T |
3: 54,642,463 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,504,166 (GRCm39) |
A4553V |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,931,135 (GRCm38) |
L2119Q |
probably damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,587,826 (GRCm39) |
D401E |
probably benign |
Het |
| Glyctk |
T |
C |
9: 106,032,906 (GRCm39) |
E369G |
possibly damaging |
Het |
| Gm14149 |
C |
A |
2: 151,066,225 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
T |
C |
9: 118,387,174 (GRCm39) |
L1432P |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,023,196 (GRCm39) |
S623T |
probably benign |
Het |
| Insc |
A |
C |
7: 114,390,383 (GRCm39) |
S85R |
probably damaging |
Het |
| Lgr4 |
G |
A |
2: 109,821,496 (GRCm39) |
R126H |
probably damaging |
Het |
| M1ap |
T |
A |
6: 82,980,795 (GRCm39) |
L227Q |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,067,187 (GRCm39) |
I569T |
probably damaging |
Het |
| Mbd1 |
C |
A |
18: 74,409,768 (GRCm39) |
C339* |
probably null |
Het |
| Moxd2 |
T |
A |
6: 40,857,341 (GRCm39) |
Y473F |
probably damaging |
Het |
| Mrgpra6 |
T |
C |
7: 46,839,099 (GRCm39) |
H2R |
probably benign |
Het |
| Mtus1 |
T |
G |
8: 41,529,303 (GRCm39) |
L742F |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,270,160 (GRCm39) |
Y21H |
probably benign |
Het |
| Notch4 |
G |
T |
17: 34,801,392 (GRCm39) |
C1080F |
probably damaging |
Het |
| Nsd3 |
C |
A |
8: 26,156,107 (GRCm39) |
P558Q |
probably damaging |
Het |
| Oas1e |
A |
T |
5: 120,930,015 (GRCm39) |
S168T |
probably benign |
Het |
| Ogfr |
T |
C |
2: 180,234,285 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2y15 |
A |
G |
11: 49,350,563 (GRCm39) |
D19G |
probably damaging |
Het |
| Or8g20 |
T |
A |
9: 39,395,767 (GRCm39) |
M261L |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,631,504 (GRCm39) |
I1135T |
possibly damaging |
Het |
| Prex1 |
G |
A |
2: 166,486,604 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
T |
C |
4: 118,068,486 (GRCm39) |
|
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,875,859 (GRCm39) |
V359A |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,577,245 (GRCm39) |
S1050G |
possibly damaging |
Het |
| Rnft2 |
A |
G |
5: 118,366,868 (GRCm39) |
I290T |
possibly damaging |
Het |
| Senp7 |
C |
A |
16: 55,975,722 (GRCm39) |
A476E |
possibly damaging |
Het |
| Serpinh1 |
G |
A |
7: 98,995,571 (GRCm39) |
S337L |
probably damaging |
Het |
| Slc5a12 |
C |
A |
2: 110,427,969 (GRCm39) |
A8D |
probably benign |
Het |
| Smg5 |
T |
A |
3: 88,250,214 (GRCm39) |
C109S |
probably damaging |
Het |
| Speer4b |
T |
C |
5: 27,705,226 (GRCm39) |
H49R |
possibly damaging |
Het |
| Tas2r109 |
T |
C |
6: 132,957,664 (GRCm39) |
I89V |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,648,399 (GRCm39) |
|
probably null |
Het |
| Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
| Tpgs1 |
G |
A |
10: 79,505,545 (GRCm39) |
G101D |
probably damaging |
Het |
| Trim13 |
T |
G |
14: 61,842,188 (GRCm39) |
S68R |
probably damaging |
Het |
| Vwf |
A |
G |
6: 125,620,053 (GRCm39) |
N1577S |
|
Het |
| Vwf |
G |
T |
6: 125,656,228 (GRCm39) |
|
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,207,868 (GRCm39) |
|
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zftraf1 |
A |
T |
15: 76,532,391 (GRCm39) |
I239N |
probably damaging |
Het |
| Zftraf1 |
T |
C |
15: 76,540,615 (GRCm39) |
Y101C |
probably damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
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 |
|
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'- AACCCTGAGTTGCAAACGAATATG -3'
(R):5'- AAAGTTCCCTAGCATTGATTTTCCC -3'
Sequencing Primer
(F):5'- GTTTCATTGGGAAAACTCACAGC -3'
(R):5'- CCTAGCATTGATTTTCCCAAAAATGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation