Incidental Mutation 'R1555:Adamts1'
| ID |
170240 |
| 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 |
039594-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1555 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85594776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 358
(T358S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
| AlphaFold |
P97857 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023610
AA Change: T621S
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: T621S
| 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
AA Change: T358S
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: T358S
| 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 |
0.0740 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
96% (43/45) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,865,727 (GRCm39) |
|
probably null |
Het |
| Ate1 |
A |
T |
7: 130,110,821 (GRCm39) |
F169I |
probably benign |
Het |
| Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,139,050 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
C |
T |
9: 105,878,085 (GRCm39) |
R1964Q |
possibly damaging |
Het |
| Dcakd |
C |
T |
11: 102,891,039 (GRCm39) |
V17I |
probably damaging |
Het |
| Dcdc5 |
T |
G |
2: 106,214,480 (GRCm39) |
|
noncoding transcript |
Het |
| Erc2 |
T |
A |
14: 27,733,622 (GRCm39) |
D557E |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 64,406,668 (GRCm39) |
D676V |
possibly damaging |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Igkv10-96 |
C |
T |
6: 68,609,365 (GRCm39) |
|
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,844,893 (GRCm39) |
N248K |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,702,853 (GRCm39) |
I15F |
probably damaging |
Het |
| Neurl3 |
A |
G |
1: 36,305,613 (GRCm39) |
V198A |
probably benign |
Het |
| Notch2 |
C |
A |
3: 98,038,656 (GRCm39) |
N1266K |
possibly damaging |
Het |
| Nup107 |
A |
G |
10: 117,587,395 (GRCm39) |
|
probably benign |
Het |
| Or52e8b |
T |
C |
7: 104,673,729 (GRCm39) |
I153V |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,533,787 (GRCm39) |
I134F |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,844,958 (GRCm39) |
H1334N |
possibly damaging |
Het |
| Phyhd1 |
T |
A |
2: 30,164,718 (GRCm39) |
I100N |
probably damaging |
Het |
| Rad21l |
T |
A |
2: 151,500,348 (GRCm39) |
T224S |
probably benign |
Het |
| Rxra |
C |
T |
2: 27,638,690 (GRCm39) |
A231V |
probably benign |
Het |
| Sac3d1 |
T |
C |
19: 6,168,435 (GRCm39) |
D61G |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,189,279 (GRCm39) |
Y481H |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,927,858 (GRCm39) |
E642G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,006,315 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Tedc1 |
G |
T |
12: 113,120,117 (GRCm39) |
|
probably benign |
Het |
| Tmem200a |
A |
T |
10: 25,869,782 (GRCm39) |
D162E |
probably damaging |
Het |
| Tmprss11e |
T |
A |
5: 86,863,447 (GRCm39) |
Q206L |
probably damaging |
Het |
| Tpra1 |
A |
G |
6: 88,887,185 (GRCm39) |
N175S |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,119,596 (GRCm39) |
E601G |
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,036,408 (GRCm39) |
D346Y |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,348,630 (GRCm39) |
V874A |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,332,788 (GRCm39) |
K258R |
probably benign |
Het |
| Xkr6 |
A |
G |
14: 64,056,374 (GRCm39) |
Y95C |
unknown |
Het |
| Zfp180 |
T |
C |
7: 23,800,999 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,727 (GRCm39) |
T147A |
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 |
|
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 |
|
|
|
R9786:Adamts1
|
UTSW |
16 |
85,592,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGTATGGCATGGCAGCAAGCCC -3'
(R):5'- TGTGAAGGCAAACGAGTCCGCTAC -3'
Sequencing Primer
(F):5'- GTGTAAAAGCACCTACCTTGG -3'
(R):5'- CAGGTCCTGTAACATCGAGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation