Incidental Mutation 'R7986:Adamts1'
ID |
651505 |
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 |
046027-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7986 (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 T
at 85596435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 401
(A401D)
|
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: A401D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023610 Gene: ENSMUSG00000022893 AA Change: A401D
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: A138D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118471 Gene: ENSMUSG00000022893 AA Change: A138D
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap10 |
C |
T |
11: 61,820,890 (GRCm39) |
G5R |
probably damaging |
Het |
Arhgap21 |
A |
C |
2: 20,867,967 (GRCm39) |
L1023W |
probably damaging |
Het |
Bpifb4 |
A |
G |
2: 153,799,650 (GRCm39) |
N339S |
probably benign |
Het |
Btbd17 |
A |
G |
11: 114,683,341 (GRCm39) |
Y124H |
probably damaging |
Het |
Cacna1a |
C |
G |
8: 85,365,408 (GRCm39) |
R2184G |
probably benign |
Het |
Cavin1 |
A |
G |
11: 100,861,102 (GRCm39) |
I64T |
probably damaging |
Het |
Cby3 |
A |
G |
11: 50,250,106 (GRCm39) |
H9R |
possibly damaging |
Het |
Ccdc141 |
A |
G |
2: 76,845,461 (GRCm39) |
L1202P |
probably benign |
Het |
Cd109 |
A |
G |
9: 78,596,048 (GRCm39) |
I794V |
possibly damaging |
Het |
Col12a1 |
C |
T |
9: 79,511,674 (GRCm39) |
|
probably null |
Het |
Col6a2 |
A |
G |
10: 76,450,972 (GRCm39) |
L23P |
probably benign |
Het |
Csf1r |
A |
G |
18: 61,247,904 (GRCm39) |
H324R |
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,087,096 (GRCm39) |
S627P |
probably damaging |
Het |
Dffb |
G |
A |
4: 154,054,504 (GRCm39) |
S195F |
probably damaging |
Het |
Fstl5 |
T |
A |
3: 76,337,097 (GRCm39) |
Y219N |
probably damaging |
Het |
Gm29106 |
A |
T |
1: 118,128,000 (GRCm39) |
H564L |
possibly damaging |
Het |
Gpt2 |
T |
A |
8: 86,235,839 (GRCm39) |
C158* |
probably null |
Het |
Grin1 |
G |
T |
2: 25,185,841 (GRCm39) |
A872D |
probably damaging |
Het |
Hoxa1 |
T |
C |
6: 52,135,018 (GRCm39) |
S62G |
probably benign |
Het |
Krt28 |
T |
C |
11: 99,257,651 (GRCm39) |
N397D |
probably benign |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Llgl1 |
G |
T |
11: 60,602,221 (GRCm39) |
A755S |
probably benign |
Het |
Lmod2 |
A |
G |
6: 24,603,448 (GRCm39) |
E141G |
possibly damaging |
Het |
Loxhd1 |
A |
T |
18: 77,462,890 (GRCm39) |
T910S |
possibly damaging |
Het |
Masp2 |
A |
G |
4: 148,687,283 (GRCm39) |
Y55C |
probably damaging |
Het |
Nek10 |
A |
C |
14: 15,001,020 (GRCm38) |
S1067R |
probably benign |
Het |
Nemp2 |
C |
T |
1: 52,669,981 (GRCm39) |
A22V |
probably benign |
Het |
Npy2r |
T |
A |
3: 82,448,803 (GRCm39) |
|
probably null |
Het |
Nr1h4 |
A |
T |
10: 89,290,634 (GRCm39) |
S469T |
possibly damaging |
Het |
Nr4a3 |
T |
C |
4: 48,055,954 (GRCm39) |
Y327H |
probably damaging |
Het |
Or10ag52 |
A |
G |
2: 87,043,922 (GRCm39) |
I229V |
probably benign |
Het |
Or5an1b |
C |
T |
19: 12,300,102 (GRCm39) |
V30I |
probably benign |
Het |
Pramel26 |
A |
T |
4: 143,538,590 (GRCm39) |
L127* |
probably null |
Het |
Prss1l |
T |
C |
6: 41,373,058 (GRCm39) |
I110T |
probably damaging |
Het |
Ptpdc1 |
G |
A |
13: 48,746,046 (GRCm39) |
A118V |
probably damaging |
Het |
Raph1 |
T |
C |
1: 60,535,445 (GRCm39) |
Y73C |
|
Het |
Rtl1 |
A |
G |
12: 109,558,492 (GRCm39) |
S1116P |
possibly damaging |
Het |
Secisbp2 |
T |
C |
13: 51,819,395 (GRCm39) |
I325T |
probably damaging |
Het |
Setd5 |
T |
C |
6: 113,105,418 (GRCm39) |
S817P |
probably benign |
Het |
Sirt6 |
A |
G |
10: 81,458,344 (GRCm39) |
L303P |
probably benign |
Het |
Slc46a2 |
G |
T |
4: 59,911,858 (GRCm39) |
F451L |
probably benign |
Het |
Sorbs1 |
T |
A |
19: 40,353,449 (GRCm39) |
I219F |
probably damaging |
Het |
Tmem178 |
A |
G |
17: 81,308,273 (GRCm39) |
I223V |
possibly damaging |
Het |
Trps1 |
T |
G |
15: 50,525,132 (GRCm39) |
T933P |
probably damaging |
Het |
Trps1 |
A |
G |
15: 50,753,019 (GRCm39) |
F16S |
probably benign |
Het |
Virma |
T |
A |
4: 11,540,023 (GRCm39) |
S1447R |
probably benign |
Het |
Vmn1r230 |
T |
C |
17: 21,067,119 (GRCm39) |
Y103H |
probably damaging |
Het |
Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
Ybx3 |
T |
A |
6: 131,356,362 (GRCm39) |
R170* |
probably null |
Het |
Zfp423 |
T |
C |
8: 88,506,978 (GRCm39) |
D1122G |
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 |
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 |
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'- GTCAACGTTCAAATGTTTGTACCAC -3'
(R):5'- TGCCCAACTGAAGAGCTAAG -3'
Sequencing Primer
(F):5'- CCTGTCCTAGTAAGACCATACTTG -3'
(R):5'- TGAAGAGCTAAGTATCAAGTCCACTC -3'
|
Posted On |
2020-09-15 |