Incidental Mutation 'R5420:Adamts1'
ID |
428020 |
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 |
042988-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5420 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 85596497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 117
(C117*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118471
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
AlphaFold |
P97857 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023610
AA Change: C380*
|
SMART Domains |
Protein: ENSMUSP00000023610 Gene: ENSMUSG00000022893 AA Change: C380*
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 null
Transcript: ENSMUST00000125897
AA Change: C117*
|
SMART Domains |
Protein: ENSMUSP00000118471 Gene: ENSMUSG00000022893 AA Change: C117*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
97% (66/68) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
TGCGCAGC |
T |
19: 4,915,372 (GRCm39) |
|
probably null |
Het |
Adgrg6 |
A |
T |
10: 14,302,730 (GRCm39) |
Y894* |
probably null |
Het |
Alas1 |
G |
T |
9: 106,111,358 (GRCm39) |
L603I |
probably benign |
Het |
Arhgap21 |
G |
T |
2: 20,885,897 (GRCm39) |
R427S |
probably damaging |
Het |
Arhgef25 |
A |
T |
10: 127,023,143 (GRCm39) |
V88D |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,202,551 (GRCm39) |
Q691R |
possibly damaging |
Het |
Bpifa6 |
T |
A |
2: 153,831,250 (GRCm39) |
I272N |
probably damaging |
Het |
Cacybp |
T |
C |
1: 160,035,914 (GRCm39) |
|
probably benign |
Het |
Capn3 |
T |
C |
2: 120,325,777 (GRCm39) |
|
probably benign |
Het |
Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
Cideb |
A |
C |
14: 55,995,748 (GRCm39) |
M1R |
probably null |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,925,322 (GRCm39) |
R760H |
probably damaging |
Het |
Cyp2c23 |
A |
C |
19: 44,004,103 (GRCm39) |
|
probably null |
Het |
Cyp3a13 |
T |
G |
5: 137,897,243 (GRCm39) |
D357A |
probably damaging |
Het |
Dip2b |
C |
T |
15: 100,103,054 (GRCm39) |
|
probably benign |
Het |
Ecm2 |
A |
T |
13: 49,681,210 (GRCm39) |
R448S |
possibly damaging |
Het |
Edil3 |
T |
C |
13: 89,279,891 (GRCm39) |
Y190H |
probably damaging |
Het |
Eps8l1 |
T |
G |
7: 4,473,160 (GRCm39) |
|
probably null |
Het |
Eps8l3 |
A |
T |
3: 107,791,301 (GRCm39) |
K280* |
probably null |
Het |
Fam184a |
A |
G |
10: 53,509,753 (GRCm39) |
F1137L |
probably damaging |
Het |
Fmn2 |
A |
T |
1: 174,526,344 (GRCm39) |
R1388* |
probably null |
Het |
Glt8d2 |
T |
C |
10: 82,488,516 (GRCm39) |
K318R |
probably benign |
Het |
Herc2 |
A |
T |
7: 55,853,578 (GRCm39) |
K3690I |
probably damaging |
Het |
Ifi206 |
T |
A |
1: 173,308,599 (GRCm39) |
I466F |
possibly damaging |
Het |
Jade2 |
T |
C |
11: 51,709,434 (GRCm39) |
K525R |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,759,633 (GRCm39) |
F772I |
probably damaging |
Het |
Lipi |
A |
G |
16: 75,352,757 (GRCm39) |
V360A |
possibly damaging |
Het |
Mbl1 |
C |
T |
14: 40,879,153 (GRCm39) |
S108L |
possibly damaging |
Het |
Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
Mrpl23 |
A |
G |
7: 142,089,874 (GRCm39) |
T25A |
probably damaging |
Het |
Mto1 |
T |
A |
9: 78,360,109 (GRCm39) |
M199K |
probably benign |
Het |
Nes |
A |
T |
3: 87,884,309 (GRCm39) |
N812I |
probably damaging |
Het |
Nfkbie |
T |
A |
17: 45,871,132 (GRCm39) |
D261E |
probably benign |
Het |
Or7e173 |
T |
C |
9: 19,938,355 (GRCm39) |
Y293C |
probably damaging |
Het |
Pakap |
G |
A |
4: 57,856,062 (GRCm39) |
V505I |
probably benign |
Het |
Pakap |
T |
A |
4: 57,856,434 (GRCm39) |
Y588N |
probably damaging |
Het |
Papola |
A |
G |
12: 105,772,754 (GRCm39) |
I114V |
possibly damaging |
Het |
Pappa |
T |
G |
4: 65,254,017 (GRCm39) |
|
probably null |
Het |
Pcdh7 |
T |
A |
5: 57,877,529 (GRCm39) |
D361E |
probably damaging |
Het |
Pick1 |
A |
G |
15: 79,133,040 (GRCm39) |
T367A |
probably benign |
Het |
Plbd2 |
A |
G |
5: 120,632,547 (GRCm39) |
Y152H |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,671,562 (GRCm39) |
E424D |
possibly damaging |
Het |
Rab7b |
C |
T |
1: 131,626,164 (GRCm39) |
T64I |
probably damaging |
Het |
Rarb |
T |
A |
14: 16,434,249 (GRCm38) |
I310F |
possibly damaging |
Het |
Rdh16f2 |
C |
T |
10: 127,712,943 (GRCm39) |
P314S |
possibly damaging |
Het |
Rpain |
A |
T |
11: 70,868,516 (GRCm39) |
|
probably null |
Het |
Rufy3 |
T |
C |
5: 88,788,518 (GRCm39) |
*488Q |
probably null |
Het |
Sash1 |
G |
A |
10: 8,621,950 (GRCm39) |
T398I |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scrn1 |
T |
A |
6: 54,489,048 (GRCm39) |
I358F |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Thbs1 |
G |
T |
2: 117,943,636 (GRCm39) |
D85Y |
possibly damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,225 (GRCm39) |
I249N |
probably damaging |
Het |
Trp53 |
T |
C |
11: 69,479,146 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn1r223 |
A |
G |
13: 23,433,675 (GRCm39) |
R90G |
probably benign |
Het |
Zfp521 |
A |
T |
18: 13,977,144 (GRCm39) |
Y1090N |
probably damaging |
Het |
Zfp677 |
T |
C |
17: 21,618,175 (GRCm39) |
C411R |
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 |
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 |
|
|
R9786:Adamts1
|
UTSW |
16 |
85,592,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCCTTCTAAAATTGCTGGTG -3'
(R):5'- TTTAGAGTCAGTCCTTCAAGTCC -3'
Sequencing Primer
(F):5'- CCTTCTAAAATTGCTGGTGGCTGAG -3'
(R):5'- GTCCTTCAAGTCCAGCAATAATG -3'
|
Posted On |
2016-09-01 |