Incidental Mutation 'IGL02649:Adamts17'
| ID |
302089 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adamts17
|
| Ensembl Gene |
ENSMUSG00000058145 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
| Synonyms |
AU023434 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
IGL02649
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
66489483-66802919 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 66499626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098382]
[ENSMUST00000107478]
[ENSMUST00000125014]
|
| AlphaFold |
E9Q4D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098382
|
| SMART Domains |
Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156396
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
T |
11: 116,486,472 (GRCm39) |
I4F |
probably benign |
Het |
| Adcy1 |
A |
T |
11: 7,117,156 (GRCm39) |
M1008L |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atrnl1 |
T |
G |
19: 57,638,873 (GRCm39) |
|
probably benign |
Het |
| Brd3 |
T |
A |
2: 27,344,362 (GRCm39) |
E456V |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,573,252 (GRCm39) |
L712H |
probably damaging |
Het |
| Ccna1 |
T |
A |
3: 54,961,807 (GRCm39) |
T38S |
probably damaging |
Het |
| Chadl |
T |
A |
15: 81,580,059 (GRCm39) |
I59F |
probably benign |
Het |
| Chmp3 |
T |
C |
6: 71,529,417 (GRCm39) |
M27T |
possibly damaging |
Het |
| Clcn1 |
C |
T |
6: 42,275,763 (GRCm39) |
T295I |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,604,369 (GRCm39) |
|
probably null |
Het |
| Dennd2a |
T |
A |
6: 39,447,290 (GRCm39) |
H776L |
probably benign |
Het |
| Dimt1 |
G |
A |
13: 107,085,219 (GRCm39) |
R55K |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,319 (GRCm39) |
D1626V |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,487,465 (GRCm39) |
S3487P |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,310,787 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Ifna12 |
A |
T |
4: 88,521,091 (GRCm39) |
V152E |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,930,974 (GRCm39) |
C903S |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,313,672 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Isyna1 |
T |
C |
8: 71,048,904 (GRCm39) |
S328P |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,472,303 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
G |
A |
1: 153,122,788 (GRCm39) |
T764I |
possibly damaging |
Het |
| Lta4h |
T |
C |
10: 93,308,831 (GRCm39) |
V377A |
probably benign |
Het |
| Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,328,418 (GRCm39) |
L329F |
probably benign |
Het |
| Nlgn2 |
T |
C |
11: 69,716,628 (GRCm39) |
T638A |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,035,753 (GRCm39) |
T10A |
probably damaging |
Het |
| Or14j8 |
A |
T |
17: 38,263,864 (GRCm39) |
F17Y |
probably damaging |
Het |
| Or5k1 |
T |
A |
16: 58,617,713 (GRCm39) |
R165S |
probably damaging |
Het |
| Pde10a |
A |
T |
17: 9,172,604 (GRCm39) |
N296I |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,519,912 (GRCm39) |
I1385M |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,141,378 (GRCm39) |
V647A |
probably damaging |
Het |
| Pnp |
T |
C |
14: 51,185,303 (GRCm39) |
|
probably benign |
Het |
| Ppl |
A |
T |
16: 4,905,327 (GRCm39) |
I1656K |
probably damaging |
Het |
| Rimbp3 |
G |
T |
16: 17,027,472 (GRCm39) |
E299* |
probably null |
Het |
| Sbsn |
C |
A |
7: 30,452,683 (GRCm39) |
A566D |
probably damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,816,225 (GRCm39) |
M494K |
probably damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,772,885 (GRCm39) |
V226E |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,617,986 (GRCm39) |
I339N |
possibly damaging |
Het |
| Tenm2 |
G |
T |
11: 36,097,912 (GRCm39) |
S445R |
possibly damaging |
Het |
| Tlcd5 |
C |
A |
9: 43,022,783 (GRCm39) |
K190N |
probably benign |
Het |
| Tnip2 |
A |
T |
5: 34,671,075 (GRCm39) |
L56Q |
probably damaging |
Het |
| Trpv1 |
C |
T |
11: 73,141,612 (GRCm39) |
S485F |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,681,437 (GRCm39) |
M115T |
probably benign |
Het |
| Zbtb38 |
G |
A |
9: 96,568,672 (GRCm39) |
T804I |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,520,167 (GRCm39) |
S430P |
possibly damaging |
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 |
|
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 |
|
R0380:Adamts17
|
UTSW |
7 |
66,799,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation