Incidental Mutation 'R8118:Adamts1'
| ID |
631367 |
| 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 |
067547-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8118 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85592821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 792
(D792G)
|
| 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: D792G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: D792G
| 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: D529G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: D529G
| 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: 99.8%
- 3x: 99.5%
- 10x: 98.2%
- 20x: 91.1%
|
| Validation Efficiency |
97% (68/70) |
| 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 |
|---|
| Adcy7 |
A |
G |
8: 89,042,384 (GRCm39) |
H417R |
probably damaging |
Het |
| Agr2 |
A |
G |
12: 36,046,106 (GRCm39) |
D79G |
probably benign |
Het |
| Ankle1 |
T |
C |
8: 71,860,279 (GRCm39) |
S286P |
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,643,164 (GRCm39) |
S1488P |
probably damaging |
Het |
| Atp6v0a2 |
T |
C |
5: 124,789,837 (GRCm39) |
M421T |
probably damaging |
Het |
| Cdk17 |
C |
A |
10: 93,052,252 (GRCm39) |
Q111K |
possibly damaging |
Het |
| Cimap2 |
T |
A |
4: 106,470,595 (GRCm39) |
R192S |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,204,834 (GRCm39) |
S623P |
probably benign |
Het |
| Dgka |
C |
T |
10: 128,558,318 (GRCm39) |
|
probably null |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Dsg2 |
A |
G |
18: 20,715,858 (GRCm39) |
I267V |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,948,853 (GRCm39) |
Y899H |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,871,400 (GRCm39) |
F3664L |
probably benign |
Het |
| Fbxo47 |
C |
T |
11: 97,770,341 (GRCm39) |
C17Y |
probably benign |
Het |
| Gm2888 |
G |
T |
14: 3,037,628 (GRCm38) |
V207F |
probably benign |
Het |
| Gpr61 |
A |
G |
3: 108,057,888 (GRCm39) |
S258P |
probably damaging |
Het |
| H2-T9 |
C |
T |
17: 36,438,582 (GRCm39) |
V270M |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,424,439 (GRCm39) |
H700Y |
probably benign |
Het |
| Hs3st2 |
C |
T |
7: 120,996,651 (GRCm39) |
T154I |
probably benign |
Het |
| Inf2 |
A |
T |
12: 112,567,871 (GRCm39) |
H167L |
probably damaging |
Het |
| Ints3 |
C |
T |
3: 90,307,606 (GRCm39) |
|
probably null |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Itgal |
C |
A |
7: 126,910,417 (GRCm39) |
Q509K |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,925,971 (GRCm39) |
|
probably null |
Het |
| Krtap4-13 |
C |
T |
11: 99,700,224 (GRCm39) |
C145Y |
unknown |
Het |
| Large1 |
A |
G |
8: 73,858,572 (GRCm39) |
S99P |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,261,533 (GRCm39) |
I1496L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,464,550 (GRCm39) |
I1647F |
probably damaging |
Het |
| Map3k10 |
A |
G |
7: 27,372,842 (GRCm39) |
V203A |
possibly damaging |
Het |
| Mcmdc2 |
T |
A |
1: 9,986,599 (GRCm39) |
N166K |
possibly damaging |
Het |
| Mlxipl |
T |
G |
5: 135,166,102 (GRCm39) |
L828R |
possibly damaging |
Het |
| Mnat1 |
A |
G |
12: 73,265,864 (GRCm39) |
I253V |
probably benign |
Het |
| Mtfp1 |
A |
G |
11: 4,043,910 (GRCm39) |
S107P |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,384,631 (GRCm39) |
Y65F |
possibly damaging |
Het |
| Nelfb |
A |
T |
2: 25,095,171 (GRCm39) |
D339E |
possibly damaging |
Het |
| Nlrc3 |
T |
A |
16: 3,783,495 (GRCm39) |
I20L |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,207,451 (GRCm39) |
M1501K |
probably benign |
Het |
| Or14a258 |
A |
T |
7: 86,034,976 (GRCm39) |
C297* |
probably null |
Het |
| Or1ad8 |
A |
G |
11: 50,898,327 (GRCm39) |
H176R |
probably damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,863 (GRCm38) |
I73T |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,608 (GRCm39) |
D84G |
probably benign |
Het |
| Or5b123 |
T |
A |
19: 13,597,109 (GRCm39) |
N151K |
probably damaging |
Het |
| Or5g29 |
T |
A |
2: 85,421,332 (GRCm39) |
Y149* |
probably null |
Het |
| Palm3 |
A |
G |
8: 84,756,438 (GRCm39) |
E650G |
probably damaging |
Het |
| Prps1l1 |
C |
A |
12: 35,035,340 (GRCm39) |
L152M |
probably damaging |
Het |
| Rgs7bp |
C |
A |
13: 105,189,629 (GRCm39) |
V57F |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,214,458 (GRCm39) |
V171D |
unknown |
Het |
| Sf3a2 |
T |
C |
10: 80,639,474 (GRCm39) |
Y155H |
probably damaging |
Het |
| Sfrp1 |
T |
G |
8: 23,902,000 (GRCm39) |
L67R |
probably damaging |
Het |
| Shank2 |
A |
T |
7: 143,963,612 (GRCm39) |
I407L |
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,722,872 (GRCm39) |
T902A |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 113,013,691 (GRCm39) |
S353R |
possibly damaging |
Het |
| Srrm2 |
T |
A |
17: 24,027,057 (GRCm39) |
I87N |
unknown |
Het |
| Stard9 |
G |
A |
2: 120,534,911 (GRCm39) |
G3723S |
probably benign |
Het |
| Svs3b |
A |
G |
2: 164,097,926 (GRCm39) |
S132P |
probably damaging |
Het |
| Tbc1d17 |
G |
T |
7: 44,492,426 (GRCm39) |
F412L |
probably benign |
Het |
| Tex29 |
A |
T |
8: 11,904,263 (GRCm39) |
E116D |
unknown |
Het |
| Tmem204 |
T |
C |
17: 25,299,312 (GRCm39) |
D69G |
possibly damaging |
Het |
| Ttll10 |
G |
A |
4: 156,129,219 (GRCm39) |
R308C |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,508 (GRCm39) |
I24462F |
probably damaging |
Het |
| Tubg2 |
A |
G |
11: 101,052,304 (GRCm39) |
E411G |
probably damaging |
Het |
| Ugt2b38 |
T |
C |
5: 87,571,630 (GRCm39) |
N134S |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,276,485 (GRCm39) |
T351A |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,065,996 (GRCm39) |
L92S |
probably damaging |
Het |
| Vmn2r20 |
A |
T |
6: 123,373,429 (GRCm39) |
I471N |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Wnk2 |
A |
G |
13: 49,244,459 (GRCm39) |
V459A |
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 |
|
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'- AACCTGAGCCGCATGTCTTG -3'
(R):5'- AGACCTGGGTATCATGACATTG -3'
Sequencing Primer
(F):5'- CGCATGTCTTGGAGCACTC -3'
(R):5'- GACATTGTCACAATTCCTGCTGGAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation