Incidental Mutation 'R0380:Adamts17'
ID |
30928 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts17
|
Ensembl Gene |
ENSMUSG00000058145 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
Synonyms |
AU023434 |
MMRRC Submission |
038586-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R0380 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
66489483-66802919 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 66799792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1116
(P1116L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098382]
[ENSMUST00000107478]
|
AlphaFold |
E9Q4D1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098382
AA Change: P1116L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000095984 Gene: ENSMUSG00000058145 AA Change: P1116L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
35 |
179 |
2.9e-25 |
PFAM |
Pfam:Reprolysin_5
|
228 |
422 |
3.1e-15 |
PFAM |
Pfam:Reprolysin_2
|
248 |
440 |
6.1e-13 |
PFAM |
Pfam:Reprolysin_3
|
252 |
398 |
2.2e-12 |
PFAM |
Pfam:Reprolysin_4
|
328 |
446 |
7.1e-10 |
PFAM |
Pfam:Reprolysin
|
334 |
450 |
2e-18 |
PFAM |
Blast:ACR
|
454 |
533 |
3e-12 |
BLAST |
TSP1
|
544 |
596 |
2.2e-15 |
SMART |
Pfam:ADAM_spacer1
|
698 |
808 |
6.4e-30 |
PFAM |
TSP1
|
829 |
887 |
1.81e-1 |
SMART |
TSP1
|
889 |
942 |
1.15e-4 |
SMART |
TSP1
|
949 |
993 |
4.05e-5 |
SMART |
TSP1
|
1000 |
1054 |
2.91e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107478
AA Change: P1089L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103102 Gene: ENSMUSG00000058145 AA Change: P1089L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:Pep_M12B_propep
|
34 |
180 |
3.1e-23 |
PFAM |
Pfam:Reprolysin_5
|
228 |
424 |
3.2e-15 |
PFAM |
Pfam:Reprolysin_2
|
248 |
440 |
5.9e-11 |
PFAM |
Pfam:Reprolysin_3
|
252 |
398 |
6e-12 |
PFAM |
Pfam:Reprolysin_4
|
328 |
446 |
6.8e-10 |
PFAM |
Pfam:Reprolysin
|
334 |
450 |
4.3e-21 |
PFAM |
Blast:ACR
|
454 |
533 |
3e-12 |
BLAST |
TSP1
|
544 |
596 |
2.2e-15 |
SMART |
Pfam:ADAM_spacer1
|
700 |
781 |
2.2e-16 |
PFAM |
TSP1
|
802 |
860 |
1.81e-1 |
SMART |
TSP1
|
862 |
915 |
1.15e-4 |
SMART |
TSP1
|
922 |
966 |
4.05e-5 |
SMART |
TSP1
|
973 |
1027 |
2.91e-6 |
SMART |
Pfam:PLAC
|
1046 |
1080 |
1.1e-10 |
PFAM |
|
Meta Mutation Damage Score |
0.0909 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
Validation Efficiency |
100% (58/58) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]
|
Allele List at MGI |
All alleles(3) : Targeted, other(2) Gene trapped(1) |
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,538,500 (GRCm39) |
|
probably null |
Het |
Abca14 |
A |
T |
7: 119,877,703 (GRCm39) |
I1073L |
probably benign |
Het |
Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
Ano4 |
A |
G |
10: 88,814,675 (GRCm39) |
I671T |
possibly damaging |
Het |
Aoc1l1 |
A |
G |
6: 48,952,773 (GRCm39) |
I233V |
probably benign |
Het |
Ap1g1 |
A |
G |
8: 110,529,796 (GRCm39) |
|
probably benign |
Het |
Arhgap19 |
A |
G |
19: 41,761,576 (GRCm39) |
|
probably benign |
Het |
Arhgap32 |
C |
T |
9: 32,157,773 (GRCm39) |
R129W |
probably damaging |
Het |
Atp10b |
G |
T |
11: 43,116,424 (GRCm39) |
A924S |
probably damaging |
Het |
Ccdc180 |
T |
A |
4: 45,930,197 (GRCm39) |
|
probably null |
Het |
Cckbr |
A |
G |
7: 105,084,198 (GRCm39) |
T311A |
probably benign |
Het |
Cr2 |
C |
T |
1: 194,839,715 (GRCm39) |
G947R |
probably damaging |
Het |
Cyp2g1 |
T |
A |
7: 26,513,720 (GRCm39) |
|
probably benign |
Het |
Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,857,810 (GRCm39) |
Y67H |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,715,996 (GRCm39) |
Y282* |
probably null |
Het |
Epg5 |
T |
C |
18: 78,004,056 (GRCm39) |
L688P |
probably damaging |
Het |
Esr2 |
T |
G |
12: 76,170,065 (GRCm39) |
E458A |
possibly damaging |
Het |
Fat1 |
T |
C |
8: 45,463,160 (GRCm39) |
S1326P |
probably damaging |
Het |
Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
Gpr12 |
T |
A |
5: 146,520,146 (GRCm39) |
T259S |
probably damaging |
Het |
Grm5 |
T |
A |
7: 87,723,584 (GRCm39) |
C625S |
possibly damaging |
Het |
H2-Q1 |
C |
T |
17: 35,542,054 (GRCm39) |
H209Y |
probably damaging |
Het |
Hcfc2 |
C |
A |
10: 82,564,272 (GRCm39) |
|
probably benign |
Het |
Itgal |
C |
A |
7: 126,909,923 (GRCm39) |
Y495* |
probably null |
Het |
Kbtbd3 |
T |
A |
9: 4,330,545 (GRCm39) |
Y306* |
probably null |
Het |
Kcns2 |
T |
C |
15: 34,839,318 (GRCm39) |
F227S |
possibly damaging |
Het |
Kif1a |
T |
A |
1: 92,983,753 (GRCm39) |
|
probably null |
Het |
Maml2 |
C |
T |
9: 13,532,396 (GRCm39) |
R537* |
probably null |
Het |
Muc4 |
G |
A |
16: 32,574,333 (GRCm39) |
A928T |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,594,740 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
T |
2: 52,122,214 (GRCm39) |
M605K |
probably damaging |
Het |
Or2c1 |
A |
T |
16: 3,656,849 (GRCm39) |
D4V |
probably benign |
Het |
Pcdhb3 |
T |
G |
18: 37,435,210 (GRCm39) |
I392S |
possibly damaging |
Het |
Prune2 |
A |
G |
19: 17,101,371 (GRCm39) |
T2292A |
probably damaging |
Het |
Rbbp8nl |
A |
T |
2: 179,923,512 (GRCm39) |
M108K |
probably damaging |
Het |
Rbm25 |
A |
G |
12: 83,707,130 (GRCm39) |
T259A |
probably benign |
Het |
Recql |
C |
A |
6: 142,315,156 (GRCm39) |
R243L |
probably damaging |
Het |
Rsf1 |
TGGCG |
TGGCGACGGCGGCG |
7: 97,229,112 (GRCm39) |
|
probably benign |
Het |
Serpinb12 |
T |
C |
1: 106,878,551 (GRCm39) |
|
probably null |
Het |
Slc16a14 |
T |
A |
1: 84,907,251 (GRCm39) |
I8F |
possibly damaging |
Het |
Spef1 |
G |
T |
2: 131,014,332 (GRCm39) |
|
probably benign |
Het |
Tas2r103 |
A |
G |
6: 133,013,166 (GRCm39) |
L300P |
probably damaging |
Het |
Tas2r117 |
A |
T |
6: 132,780,551 (GRCm39) |
R230* |
probably null |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Thnsl2 |
A |
T |
6: 71,118,314 (GRCm39) |
L38Q |
probably damaging |
Het |
Tmem171 |
G |
T |
13: 98,828,535 (GRCm39) |
T205K |
possibly damaging |
Het |
Tmem232 |
A |
T |
17: 65,563,443 (GRCm39) |
L650Q |
probably benign |
Het |
Tpr |
T |
A |
1: 150,288,698 (GRCm39) |
D518E |
probably benign |
Het |
Tsen54 |
T |
C |
11: 115,713,423 (GRCm39) |
V442A |
probably damaging |
Het |
Tshz3 |
A |
T |
7: 36,470,725 (GRCm39) |
I905F |
probably damaging |
Het |
Vmn1r66 |
C |
T |
7: 10,008,670 (GRCm39) |
C121Y |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,096,832 (GRCm39) |
Q322R |
probably damaging |
Het |
Wdr64 |
T |
C |
1: 175,597,208 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Adamts17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00708:Adamts17
|
APN |
7 |
66,618,650 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00950:Adamts17
|
APN |
7 |
66,770,660 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01532:Adamts17
|
APN |
7 |
66,558,349 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01591:Adamts17
|
APN |
7 |
66,654,144 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01602:Adamts17
|
APN |
7 |
66,538,159 (GRCm39) |
missense |
probably benign |
0.29 |
IGL01640:Adamts17
|
APN |
7 |
66,679,428 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01686:Adamts17
|
APN |
7 |
66,490,037 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01747:Adamts17
|
APN |
7 |
66,701,759 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02081:Adamts17
|
APN |
7 |
66,711,858 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02152:Adamts17
|
APN |
7 |
66,774,748 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02264:Adamts17
|
APN |
7 |
66,697,207 (GRCm39) |
splice site |
probably null |
|
IGL02457:Adamts17
|
APN |
7 |
66,677,562 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02519:Adamts17
|
APN |
7 |
66,774,721 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02530:Adamts17
|
APN |
7 |
66,559,124 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02649:Adamts17
|
APN |
7 |
66,499,626 (GRCm39) |
splice site |
probably benign |
|
IGL02711:Adamts17
|
APN |
7 |
66,701,788 (GRCm39) |
splice site |
probably benign |
|
IGL03006:Adamts17
|
APN |
7 |
66,728,095 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03203:Adamts17
|
APN |
7 |
66,711,856 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03343:Adamts17
|
APN |
7 |
66,725,064 (GRCm39) |
missense |
probably damaging |
1.00 |
BB007:Adamts17
|
UTSW |
7 |
66,499,547 (GRCm39) |
missense |
probably damaging |
0.96 |
BB017:Adamts17
|
UTSW |
7 |
66,499,547 (GRCm39) |
missense |
probably damaging |
0.96 |
E2594:Adamts17
|
UTSW |
7 |
66,654,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R0416:Adamts17
|
UTSW |
7 |
66,565,646 (GRCm39) |
splice site |
probably null |
|
R0635:Adamts17
|
UTSW |
7 |
66,558,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R1083:Adamts17
|
UTSW |
7 |
66,797,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R1476:Adamts17
|
UTSW |
7 |
66,725,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R1728:Adamts17
|
UTSW |
7 |
66,799,704 (GRCm39) |
nonsense |
probably null |
|
R1729:Adamts17
|
UTSW |
7 |
66,799,704 (GRCm39) |
nonsense |
probably null |
|
R1763:Adamts17
|
UTSW |
7 |
66,797,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R1784:Adamts17
|
UTSW |
7 |
66,799,704 (GRCm39) |
nonsense |
probably null |
|
R1905:Adamts17
|
UTSW |
7 |
66,697,220 (GRCm39) |
nonsense |
probably null |
|
R1938:Adamts17
|
UTSW |
7 |
66,774,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R3106:Adamts17
|
UTSW |
7 |
66,774,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R3796:Adamts17
|
UTSW |
7 |
66,489,662 (GRCm39) |
splice site |
probably null |
|
R3849:Adamts17
|
UTSW |
7 |
66,490,215 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3850:Adamts17
|
UTSW |
7 |
66,490,215 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3945:Adamts17
|
UTSW |
7 |
66,770,687 (GRCm39) |
missense |
probably benign |
|
R4519:Adamts17
|
UTSW |
7 |
66,490,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R4554:Adamts17
|
UTSW |
7 |
66,677,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R4555:Adamts17
|
UTSW |
7 |
66,677,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R4556:Adamts17
|
UTSW |
7 |
66,677,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R4557:Adamts17
|
UTSW |
7 |
66,677,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R4700:Adamts17
|
UTSW |
7 |
66,691,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R4752:Adamts17
|
UTSW |
7 |
66,654,218 (GRCm39) |
missense |
probably damaging |
0.96 |
R5019:Adamts17
|
UTSW |
7 |
66,711,818 (GRCm39) |
nonsense |
probably null |
|
R5438:Adamts17
|
UTSW |
7 |
66,538,165 (GRCm39) |
missense |
probably benign |
0.30 |
R5444:Adamts17
|
UTSW |
7 |
66,691,647 (GRCm39) |
missense |
probably benign |
0.02 |
R5673:Adamts17
|
UTSW |
7 |
66,691,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R6326:Adamts17
|
UTSW |
7 |
66,770,636 (GRCm39) |
missense |
probably benign |
0.05 |
R6964:Adamts17
|
UTSW |
7 |
66,654,101 (GRCm39) |
missense |
probably benign |
0.00 |
R6964:Adamts17
|
UTSW |
7 |
66,559,148 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7129:Adamts17
|
UTSW |
7 |
66,770,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Adamts17
|
UTSW |
7 |
66,490,304 (GRCm39) |
nonsense |
probably null |
|
R7355:Adamts17
|
UTSW |
7 |
66,725,052 (GRCm39) |
missense |
|
|
R7386:Adamts17
|
UTSW |
7 |
66,618,597 (GRCm39) |
missense |
probably benign |
0.25 |
R7407:Adamts17
|
UTSW |
7 |
66,697,304 (GRCm39) |
nonsense |
probably null |
|
R7432:Adamts17
|
UTSW |
7 |
66,701,665 (GRCm39) |
missense |
|
|
R7782:Adamts17
|
UTSW |
7 |
66,774,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R7817:Adamts17
|
UTSW |
7 |
66,559,224 (GRCm39) |
missense |
probably damaging |
0.99 |
R7930:Adamts17
|
UTSW |
7 |
66,499,547 (GRCm39) |
missense |
probably damaging |
0.96 |
R7993:Adamts17
|
UTSW |
7 |
66,499,612 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8178:Adamts17
|
UTSW |
7 |
66,499,464 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8962:Adamts17
|
UTSW |
7 |
66,725,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R9095:Adamts17
|
UTSW |
7 |
66,654,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R9111:Adamts17
|
UTSW |
7 |
66,489,648 (GRCm39) |
missense |
probably damaging |
0.96 |
R9303:Adamts17
|
UTSW |
7 |
66,489,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R9305:Adamts17
|
UTSW |
7 |
66,489,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R9505:Adamts17
|
UTSW |
7 |
66,774,683 (GRCm39) |
missense |
probably benign |
0.00 |
R9668:Adamts17
|
UTSW |
7 |
66,797,438 (GRCm39) |
missense |
possibly damaging |
0.61 |
X0022:Adamts17
|
UTSW |
7 |
66,691,649 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTGTGCCGTCCATCATAGACC -3'
(R):5'- TGCACTCTCTAGCTCTAGGCAACTG -3'
Sequencing Primer
(F):5'- GTCTCTTACTCTGAAAAGGCAGC -3'
(R):5'- AGCTCTAGGCAACTGGATTCTTG -3'
|
Posted On |
2013-04-24 |