Incidental Mutation 'R9786:Adamts1'
| ID |
734365 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85592302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 965
(T965I)
|
| 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: T965I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: T965I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
A |
9: 99,502,536 (GRCm39) |
M232K |
possibly damaging |
Het |
| Abcc1 |
T |
C |
16: 14,222,927 (GRCm39) |
S243P |
probably damaging |
Het |
| Acsl1 |
T |
C |
8: 46,974,486 (GRCm39) |
Y320H |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,653,090 (GRCm39) |
S61G |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,456,182 (GRCm39) |
M190K |
probably damaging |
Het |
| Ankrd2 |
T |
A |
19: 42,033,358 (GRCm39) |
L300Q |
|
Het |
| Ankrd27 |
A |
T |
7: 35,291,294 (GRCm39) |
Q30L |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,305,798 (GRCm39) |
I114K |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,786,809 (GRCm39) |
I205F |
probably damaging |
Het |
| BC035947 |
A |
G |
1: 78,488,561 (GRCm39) |
|
probably benign |
Het |
| Boc |
C |
T |
16: 44,311,692 (GRCm39) |
R677H |
|
Het |
| Calhm6 |
A |
G |
10: 34,003,643 (GRCm39) |
F88S |
probably benign |
Het |
| Ccdc121rt3 |
T |
A |
5: 112,502,939 (GRCm39) |
E255V |
probably benign |
Het |
| Dpysl3 |
G |
T |
18: 43,462,922 (GRCm39) |
T485K |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,194,038 (GRCm39) |
D867G |
possibly damaging |
Het |
| Fam178b |
G |
A |
1: 36,603,517 (GRCm39) |
T478I |
probably damaging |
Het |
| Foxd2 |
G |
T |
4: 114,764,850 (GRCm39) |
T390K |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,040,645 (GRCm39) |
V731A |
probably benign |
Het |
| Grin2a |
T |
A |
16: 9,471,466 (GRCm39) |
I601F |
possibly damaging |
Het |
| Hat1 |
G |
A |
2: 71,250,959 (GRCm39) |
R169Q |
possibly damaging |
Het |
| Ighe |
G |
C |
12: 113,236,851 (GRCm39) |
Q6E |
|
Het |
| Ighv8-2 |
T |
C |
12: 114,426,179 (GRCm39) |
I31V |
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,878,104 (GRCm39) |
D120G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,702,982 (GRCm39) |
D1054G |
probably benign |
Het |
| Lamp5 |
A |
T |
2: 135,910,998 (GRCm39) |
I244F |
probably damaging |
Het |
| Maco1 |
A |
T |
4: 134,557,993 (GRCm39) |
Y173* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mfsd4b1 |
T |
C |
10: 39,878,865 (GRCm39) |
E344G |
probably damaging |
Het |
| Mns1 |
A |
G |
9: 72,346,556 (GRCm39) |
K13R |
probably benign |
Het |
| Mrpl43 |
C |
T |
19: 44,994,346 (GRCm39) |
S91N |
probably benign |
Het |
| Mtbp |
T |
C |
15: 55,481,032 (GRCm39) |
S706P |
probably benign |
Het |
| Nelfb |
A |
T |
2: 25,095,145 (GRCm39) |
V348D |
probably damaging |
Het |
| Or1l8 |
T |
A |
2: 36,817,416 (GRCm39) |
K237* |
probably null |
Het |
| Or5p72 |
A |
T |
7: 108,021,924 (GRCm39) |
I49F |
probably benign |
Het |
| Or7g20 |
C |
T |
9: 18,947,241 (GRCm39) |
A274V |
possibly damaging |
Het |
| Or8k18 |
G |
A |
2: 86,085,428 (GRCm39) |
S203L |
probably benign |
Het |
| Or8s8 |
T |
C |
15: 98,354,713 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,140,009 (GRCm39) |
I324T |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,660,655 (GRCm39) |
L770* |
probably null |
Het |
| Pik3c2b |
T |
A |
1: 133,019,338 (GRCm39) |
F1029I |
possibly damaging |
Het |
| Rfx2 |
A |
T |
17: 57,087,890 (GRCm39) |
S500R |
probably benign |
Het |
| Sarm1 |
T |
C |
11: 78,365,743 (GRCm39) |
M761V |
probably benign |
Het |
| Serpina1a |
A |
G |
12: 103,822,140 (GRCm39) |
L264P |
possibly damaging |
Het |
| Slc37a1 |
G |
T |
17: 31,556,965 (GRCm39) |
G377V |
probably damaging |
Het |
| Slc38a4 |
T |
A |
15: 96,906,378 (GRCm39) |
M364L |
probably damaging |
Het |
| Slc7a15 |
A |
G |
12: 8,580,280 (GRCm39) |
F384S |
probably benign |
Het |
| Smyd4 |
T |
C |
11: 75,281,625 (GRCm39) |
V366A |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,155 (GRCm39) |
V1101D |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,498 (GRCm39) |
D441N |
possibly damaging |
Het |
| Stab2 |
C |
A |
10: 86,757,997 (GRCm39) |
M1090I |
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,062,457 (GRCm39) |
T903I |
probably damaging |
Het |
| Tgds |
A |
T |
14: 118,368,049 (GRCm39) |
Y41* |
probably null |
Het |
| Tle4 |
G |
T |
19: 14,495,304 (GRCm39) |
H142N |
probably benign |
Het |
| Tlx2 |
T |
C |
6: 83,046,274 (GRCm39) |
|
probably null |
Het |
| Tmem151a |
C |
G |
19: 5,131,869 (GRCm39) |
A446P |
probably damaging |
Het |
| Tmem205 |
A |
T |
9: 21,832,496 (GRCm39) |
D138E |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,734,042 (GRCm39) |
K1009E |
unknown |
Het |
| Tnk2 |
T |
A |
16: 32,498,875 (GRCm39) |
C729* |
probably null |
Het |
| Trim46 |
T |
A |
3: 89,142,399 (GRCm39) |
D696V |
probably damaging |
Het |
| Tuba3b |
G |
A |
6: 145,564,482 (GRCm39) |
R84Q |
probably benign |
Het |
| Unc119b |
C |
T |
5: 115,263,521 (GRCm39) |
D228N |
probably damaging |
Het |
| Usp17la |
A |
G |
7: 104,510,864 (GRCm39) |
T490A |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,219,853 (GRCm39) |
C625* |
probably null |
Het |
| Zfp687 |
C |
T |
3: 94,919,768 (GRCm39) |
M1I |
probably null |
Het |
| Zfp729a |
T |
C |
13: 67,768,628 (GRCm39) |
T534A |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,668,047 (GRCm39) |
H305L |
probably benign |
Het |
| Zscan10 |
C |
T |
17: 23,828,330 (GRCm39) |
Q291* |
probably null |
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGATGCTACTGTGCCTCATTAAC -3'
(R):5'- AGACCTTGTGCAGACCTTCC -3'
Sequencing Primer
(F):5'- CCTTATCAGAATGTAACTGGCAGG -3'
(R):5'- AGACCTTCCTTGCCCACACTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation