Incidental Mutation 'R9552:Adamts1'
| ID |
720577 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9552 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
85590715-85600001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85599505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 32
(S32P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023610]
[ENSMUST00000125897]
|
| AlphaFold |
P97857 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023610
AA Change: S32P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023610
Gene: ENSMUSG00000022893
AA Change: S32P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118471
Gene: ENSMUSG00000022893
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Abhd6 |
T |
C |
14: 8,028,329 (GRCm38) |
I20T |
possibly damaging |
Het |
| Ak7 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
12: 105,676,448 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
A |
T |
2: 20,886,397 (GRCm39) |
V270E |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,916,064 (GRCm39) |
L1660Q |
probably benign |
Het |
| Blvrb |
A |
G |
7: 27,158,786 (GRCm39) |
D62G |
probably benign |
Het |
| Ccdc68 |
T |
A |
18: 70,089,113 (GRCm39) |
S219T |
probably damaging |
Het |
| Cnbp |
A |
G |
6: 87,822,108 (GRCm39) |
Y139H |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 48,655,356 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
T |
C |
19: 39,172,246 (GRCm39) |
V387A |
probably damaging |
Het |
| Cyp2j7 |
C |
T |
4: 96,115,840 (GRCm39) |
R202H |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,240,742 (GRCm39) |
D73G |
probably damaging |
Het |
| Ercc6 |
C |
T |
14: 32,284,525 (GRCm39) |
R763C |
probably damaging |
Het |
| Gm8159 |
T |
A |
14: 15,850,264 (GRCm39) |
I161K |
probably damaging |
Het |
| Gramd1c |
A |
T |
16: 43,807,294 (GRCm39) |
M356K |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,531,090 (GRCm39) |
K542E |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,301,850 (GRCm39) |
N114S |
probably benign |
Het |
| Hs3st6 |
T |
C |
17: 24,977,228 (GRCm39) |
L236P |
probably damaging |
Het |
| Il15 |
T |
A |
8: 83,061,177 (GRCm39) |
H100L |
probably benign |
Het |
| Kcnh5 |
T |
C |
12: 75,023,334 (GRCm39) |
Y578C |
probably benign |
Het |
| Lctl |
A |
G |
9: 64,025,049 (GRCm39) |
I12V |
probably benign |
Het |
| Mark2 |
G |
T |
19: 7,263,263 (GRCm39) |
T201N |
possibly damaging |
Het |
| Mef2c |
A |
G |
13: 83,810,461 (GRCm39) |
N371S |
probably benign |
Het |
| Mgst3 |
T |
C |
1: 167,205,871 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ndst1 |
G |
T |
18: 60,845,931 (GRCm39) |
T126K |
probably damaging |
Het |
| Nid1 |
T |
A |
13: 13,677,045 (GRCm39) |
I995N |
probably damaging |
Het |
| Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,937,450 (GRCm39) |
K669R |
probably damaging |
Het |
| Or5d14 |
C |
T |
2: 87,880,509 (GRCm39) |
W153* |
probably null |
Het |
| Or6k4 |
A |
T |
1: 173,964,885 (GRCm39) |
T192S |
probably benign |
Het |
| Pbx1 |
T |
C |
1: 168,258,910 (GRCm39) |
D55G |
possibly damaging |
Het |
| Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,499,594 (GRCm39) |
D977G |
probably damaging |
Het |
| Pyroxd2 |
A |
G |
19: 42,719,756 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
A |
G |
2: 72,008,561 (GRCm39) |
I246M |
probably benign |
Het |
| Rnasel |
T |
A |
1: 153,630,673 (GRCm39) |
N396K |
possibly damaging |
Het |
| Scaf1 |
A |
G |
7: 44,658,351 (GRCm39) |
L176P |
probably damaging |
Het |
| Scgb1b12 |
C |
A |
7: 32,033,974 (GRCm39) |
A78E |
probably benign |
Het |
| Scgb2b19 |
A |
G |
7: 32,979,198 (GRCm39) |
F28S |
probably damaging |
Het |
| Skint5 |
C |
T |
4: 113,798,052 (GRCm39) |
C177Y |
possibly damaging |
Het |
| Slitrk5 |
C |
T |
14: 111,916,496 (GRCm39) |
T40I |
probably benign |
Het |
| Slu7 |
G |
A |
11: 43,329,095 (GRCm39) |
V106I |
probably benign |
Het |
| Sorbs1 |
G |
A |
19: 40,361,923 (GRCm39) |
R154* |
probably null |
Het |
| Stc2 |
A |
G |
11: 31,310,332 (GRCm39) |
S235P |
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,645,675 (GRCm39) |
D672G |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 137,995,998 (GRCm39) |
D170G |
possibly damaging |
Het |
| Tcf15 |
T |
C |
2: 151,986,039 (GRCm39) |
L165P |
probably damaging |
Het |
| Tgm1 |
T |
C |
14: 55,950,933 (GRCm39) |
|
probably benign |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmco4 |
G |
A |
4: 138,779,895 (GRCm39) |
V447M |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,099,283 (GRCm39) |
V339I |
probably benign |
Het |
| Ucp1 |
T |
C |
8: 84,024,509 (GRCm39) |
L278P |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,717,282 (GRCm39) |
D2946G |
possibly damaging |
Het |
| Vmn1r82 |
A |
G |
7: 12,039,600 (GRCm39) |
N291S |
possibly damaging |
Het |
| Vmn1r86 |
A |
T |
7: 12,836,781 (GRCm39) |
Y32N |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,230,931 (GRCm39) |
D577G |
probably benign |
Het |
| Wnt10b |
C |
A |
15: 98,670,713 (GRCm39) |
G272W |
probably damaging |
Het |
| Yipf4 |
T |
C |
17: 74,806,024 (GRCm39) |
F221S |
probably damaging |
Het |
| Zfp512 |
G |
A |
5: 31,623,676 (GRCm39) |
C14Y |
probably benign |
Het |
| Zfp658 |
G |
T |
7: 43,222,567 (GRCm39) |
V281F |
probably benign |
Het |
| Zfp827 |
T |
G |
8: 79,787,403 (GRCm39) |
W190G |
probably damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
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 |
|
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'- GATGTAGCTGCTGGCCAAAG -3'
(R):5'- AGCTCTGCACGAACTTTCC -3'
Sequencing Primer
(F):5'- GCCAAAGGCGTCCAGAC -3'
(R):5'- CGAACTTTCCCATCAAAGTGATCGTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation