Incidental Mutation 'R8804:Adamts1'
| ID |
671955 |
| 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 |
068641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85599300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 100
(F100S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
| AlphaFold |
P97857 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023610
AA Change: F100S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: F100S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (79/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,682,820 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,666,800 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 129,899,212 (GRCm39) |
W309R |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,552,652 (GRCm39) |
V617E |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,625,041 (GRCm39) |
E169G |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,389,626 (GRCm39) |
T600A |
probably benign |
Het |
| B4galt3 |
C |
T |
1: 171,103,947 (GRCm39) |
H395Y |
probably benign |
Het |
| BC024139 |
T |
G |
15: 76,008,284 (GRCm39) |
T376P |
possibly damaging |
Het |
| Bin3 |
A |
G |
14: 70,361,296 (GRCm39) |
R22G |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,496,805 (GRCm39) |
I480N |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,652,624 (GRCm39) |
T401A |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,095,809 (GRCm39) |
N1763S |
probably benign |
Het |
| Cdhr5 |
T |
C |
7: 140,849,320 (GRCm39) |
T747A |
probably benign |
Het |
| Chn2 |
A |
G |
6: 54,250,061 (GRCm39) |
I193V |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,544,898 (GRCm39) |
N363S |
probably benign |
Het |
| Clec7a |
T |
C |
6: 129,442,518 (GRCm39) |
T125A |
probably benign |
Het |
| Cys1 |
A |
T |
12: 24,718,610 (GRCm39) |
L81Q |
unknown |
Het |
| Dcbld2 |
G |
A |
16: 58,281,412 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
T |
A |
8: 62,411,640 (GRCm39) |
D497E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,356,511 (GRCm39) |
I2117V |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,042,756 (GRCm39) |
S3274F |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,842,595 (GRCm39) |
I1225N |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,819,339 (GRCm39) |
T290A |
probably benign |
Het |
| Elmod2 |
T |
A |
8: 84,046,150 (GRCm39) |
K142N |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,324,469 (GRCm39) |
T441A |
probably benign |
Het |
| Fam234a |
A |
G |
17: 26,435,531 (GRCm39) |
|
probably benign |
Het |
| Fer1l4 |
C |
A |
2: 155,893,914 (GRCm39) |
E102D |
probably benign |
Het |
| Fermt3 |
A |
G |
19: 6,991,694 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
C |
T |
6: 91,964,507 (GRCm39) |
R247C |
probably benign |
Het |
| Gm14443 |
G |
A |
2: 175,011,652 (GRCm39) |
H265Y |
probably damaging |
Het |
| Gykl1 |
A |
G |
18: 52,827,608 (GRCm39) |
D272G |
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,139,575 (GRCm39) |
S952P |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
| Ighv1-36 |
G |
T |
12: 114,843,581 (GRCm39) |
T93K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,243,876 (GRCm39) |
T153P |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 64,987,791 (GRCm39) |
C773R |
probably damaging |
Het |
| Lipf |
T |
A |
19: 33,942,198 (GRCm39) |
Y43N |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,093,972 (GRCm39) |
D90G |
probably damaging |
Het |
| Msh5 |
A |
T |
17: 35,251,830 (GRCm39) |
I410K |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,085,874 (GRCm39) |
D220G |
probably benign |
Het |
| Ncdn |
G |
A |
4: 126,643,898 (GRCm39) |
A308V |
probably benign |
Het |
| Nfu1 |
T |
A |
6: 86,993,414 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,840,635 (GRCm39) |
V991A |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,220,891 (GRCm39) |
H960Q |
probably benign |
Het |
| Parp4 |
G |
T |
14: 56,853,900 (GRCm39) |
E839* |
probably null |
Het |
| Pfas |
T |
C |
11: 68,881,908 (GRCm39) |
N30D |
|
Het |
| Pitpnc1 |
T |
A |
11: 107,103,431 (GRCm39) |
N223Y |
probably damaging |
Het |
| Plaat1 |
T |
A |
16: 29,039,205 (GRCm39) |
V95E |
probably benign |
Het |
| Plod1 |
C |
T |
4: 147,997,778 (GRCm39) |
V644I |
probably damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,708,039 (GRCm39) |
T548A |
unknown |
Het |
| Psg20 |
A |
T |
7: 18,416,584 (GRCm39) |
N177K |
possibly damaging |
Het |
| Psmb8 |
T |
A |
17: 34,419,225 (GRCm39) |
I173N |
probably damaging |
Het |
| Rimkla |
G |
A |
4: 119,325,273 (GRCm39) |
Q379* |
probably null |
Het |
| Rnasel |
G |
T |
1: 153,629,661 (GRCm39) |
G59V |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,303,150 (GRCm39) |
D161V |
probably damaging |
Het |
| Scrt1 |
C |
A |
15: 76,403,411 (GRCm39) |
C193F |
unknown |
Het |
| Sdk2 |
G |
T |
11: 113,763,978 (GRCm39) |
Y269* |
probably null |
Het |
| Sfxn2 |
G |
C |
19: 46,574,243 (GRCm39) |
|
probably benign |
Het |
| Slc17a4 |
G |
T |
13: 24,087,245 (GRCm39) |
T264K |
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,907,639 (GRCm39) |
Q301H |
possibly damaging |
Het |
| Sntb1 |
G |
A |
15: 55,655,523 (GRCm39) |
S231F |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,874,506 (GRCm39) |
S137T |
probably benign |
Het |
| Srd5a2 |
A |
T |
17: 74,354,629 (GRCm39) |
V65E |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,511,900 (GRCm39) |
H967R |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,216,920 (GRCm39) |
T320A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,206,043 (GRCm39) |
S112P |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,294,693 (GRCm39) |
L15P |
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 133,032,326 (GRCm39) |
N144I |
probably damaging |
Het |
| Thpo |
T |
A |
16: 20,544,707 (GRCm39) |
R174S |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,648,202 (GRCm39) |
Q418L |
unknown |
Het |
| Tnr |
A |
T |
1: 159,685,882 (GRCm39) |
Q371L |
probably benign |
Het |
| Tulp2 |
G |
A |
7: 45,170,398 (GRCm39) |
R439Q |
probably damaging |
Het |
| Uchl4 |
G |
T |
9: 64,142,606 (GRCm39) |
W29L |
probably damaging |
Het |
| Vrk3 |
T |
A |
7: 44,407,270 (GRCm39) |
C80* |
probably null |
Het |
| Washc4 |
T |
C |
10: 83,408,015 (GRCm39) |
L540P |
probably damaging |
Het |
| Wscd1 |
T |
C |
11: 71,675,161 (GRCm39) |
F356S |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,774,144 (GRCm39) |
M372K |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,312,191 (GRCm39) |
F168L |
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,393,399 (GRCm39) |
D175G |
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 |
|
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 |
|
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'- GCTGAATGAAGAACTCCTCTCCTTG -3'
(R):5'- ACACATGCTGTTGCTGCTC -3'
Sequencing Primer
(F):5'- GAACTCCTCTCCTTGTAGGTAGAAG -3'
(R):5'- CTCGCTTCCATAACAATGCTGCTATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation