Incidental Mutation 'R5551:Adamts1'
| ID |
435153 |
| 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 |
043108-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5551 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85594634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 405
(I405T)
|
| 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: I668T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: I668T
| 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: I405T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
AA Change: I405T
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB041806 |
G |
T |
4: 138,123,312 (GRCm39) |
P3T |
probably damaging |
Het |
| Abl1 |
C |
T |
2: 31,691,682 (GRCm39) |
A1048V |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,923,726 (GRCm39) |
V659A |
probably damaging |
Het |
| Acox1 |
A |
G |
11: 116,080,317 (GRCm39) |
S29P |
possibly damaging |
Het |
| Afm |
A |
T |
5: 90,679,511 (GRCm39) |
E335V |
probably null |
Het |
| Akap6 |
C |
T |
12: 52,842,747 (GRCm39) |
P32S |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,182,028 (GRCm39) |
M1332V |
possibly damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Atp2c1 |
C |
A |
9: 105,336,936 (GRCm39) |
A16S |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,844,753 (GRCm39) |
E1438G |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,404,741 (GRCm39) |
Y2376H |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 48,177,492 (GRCm39) |
T349A |
probably benign |
Het |
| Ctsr |
A |
T |
13: 61,307,357 (GRCm39) |
M313K |
probably damaging |
Het |
| Dot1l |
CCAGCCCCACCCTCAGCC |
CCAGCC |
10: 80,619,462 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,031,718 (GRCm39) |
S3516P |
possibly damaging |
Het |
| Ehd4 |
A |
G |
2: 119,958,100 (GRCm39) |
S162P |
possibly damaging |
Het |
| Ets2 |
T |
C |
16: 95,513,165 (GRCm39) |
W114R |
probably damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,603 (GRCm39) |
V484E |
probably damaging |
Het |
| Golph3 |
C |
A |
15: 12,321,922 (GRCm39) |
S35R |
probably benign |
Het |
| Gzf1 |
T |
C |
2: 148,526,248 (GRCm39) |
Y240H |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,558,639 (GRCm39) |
F75S |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
| Iqch |
A |
T |
9: 63,403,535 (GRCm39) |
|
probably null |
Het |
| Katnip |
T |
C |
7: 125,419,249 (GRCm39) |
F472S |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,696,553 (GRCm39) |
T2447I |
probably benign |
Het |
| Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,422,240 (GRCm39) |
C4459R |
possibly damaging |
Het |
| Myh10 |
A |
G |
11: 68,659,113 (GRCm39) |
E497G |
possibly damaging |
Het |
| Nalcn |
A |
T |
14: 123,515,698 (GRCm39) |
V1701E |
possibly damaging |
Het |
| Nat8f1 |
T |
C |
6: 85,887,891 (GRCm39) |
D23G |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,902,497 (GRCm39) |
E250K |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,177,817 (GRCm39) |
M1067V |
probably benign |
Het |
| Or4k36 |
T |
C |
2: 111,145,916 (GRCm39) |
F31L |
possibly damaging |
Het |
| Pde4d |
T |
A |
13: 110,084,930 (GRCm39) |
|
probably null |
Het |
| Rtn4 |
G |
A |
11: 29,691,011 (GRCm39) |
V1101I |
probably damaging |
Het |
| Sema4c |
A |
G |
1: 36,591,398 (GRCm39) |
Y348H |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,595 (GRCm39) |
V958A |
possibly damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,566,002 (GRCm39) |
Y677C |
probably damaging |
Het |
| Smad5 |
T |
C |
13: 56,883,654 (GRCm39) |
C347R |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,953,383 (GRCm39) |
Y95H |
probably benign |
Het |
| Srrm2 |
C |
A |
17: 24,037,450 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,701,474 (GRCm39) |
K390E |
probably damaging |
Het |
| Tars1 |
G |
A |
15: 11,392,068 (GRCm39) |
T248M |
probably damaging |
Het |
| Tcirg1 |
A |
T |
19: 3,948,858 (GRCm39) |
F442L |
probably damaging |
Het |
| Tex55 |
A |
G |
16: 38,648,336 (GRCm39) |
Y258H |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,112,133 (GRCm39) |
E162G |
probably benign |
Het |
| Tmc6 |
A |
G |
11: 117,660,271 (GRCm39) |
C656R |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,719,406 (GRCm39) |
|
probably benign |
Het |
| Uqcrc2 |
C |
T |
7: 120,244,461 (GRCm39) |
T201I |
probably damaging |
Het |
| Zfp282 |
G |
T |
6: 47,867,579 (GRCm39) |
A252S |
possibly damaging |
Het |
| Zfp473 |
G |
C |
7: 44,383,575 (GRCm39) |
P253A |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,824,786 (GRCm39) |
N1068D |
probably damaging |
Het |
| Zfp946 |
A |
G |
17: 22,674,365 (GRCm39) |
Q373R |
probably damaging |
Het |
| Zmat2 |
G |
A |
18: 36,927,010 (GRCm39) |
G6R |
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 |
|
|
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'- TTTAAGCTTCCTTCCCAACAGAAG -3'
(R):5'- AAACTGGGAACATCATCGCC -3'
Sequencing Primer
(F):5'- TCCCAAAGCAAGGAGTTGTTC -3'
(R):5'- CGTCGTTCTCTTTTCAGGAAAAACG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation