Incidental Mutation 'IGL02152:Adamts17'
| ID |
282058 |
| 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: 0.081)
|
| Stock # |
IGL02152
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
66489483-66802919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66774748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 956
(S956T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098382]
[ENSMUST00000107478]
|
| AlphaFold |
E9Q4D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098382
AA Change: S983T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: S983T
| 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: S956T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: S956T
| 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 |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
G |
5: 107,695,983 (GRCm39) |
T140A |
probably benign |
Het |
| 4933430I17Rik |
T |
C |
4: 62,460,991 (GRCm39) |
Y289H |
possibly damaging |
Het |
| Adamts6 |
A |
T |
13: 104,450,168 (GRCm39) |
S290C |
probably null |
Het |
| Apaf1 |
A |
T |
10: 90,897,681 (GRCm39) |
H267Q |
probably benign |
Het |
| Aplp2 |
G |
A |
9: 31,122,947 (GRCm39) |
P26L |
unknown |
Het |
| Arid1b |
C |
T |
17: 5,364,243 (GRCm39) |
S1019F |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Ass1 |
T |
C |
2: 31,382,336 (GRCm39) |
I169T |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,288,692 (GRCm39) |
D285G |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,381,209 (GRCm39) |
V2737A |
probably benign |
Het |
| Chrm5 |
A |
G |
2: 112,310,913 (GRCm39) |
Y68H |
probably damaging |
Het |
| Cops4 |
A |
G |
5: 100,681,456 (GRCm39) |
T164A |
probably benign |
Het |
| Cox4i1 |
A |
G |
8: 121,399,604 (GRCm39) |
S72G |
probably benign |
Het |
| Cpox |
A |
G |
16: 58,494,787 (GRCm39) |
T275A |
possibly damaging |
Het |
| Cyb5a |
T |
C |
18: 84,891,281 (GRCm39) |
I68T |
probably benign |
Het |
| Efna5 |
T |
C |
17: 62,958,055 (GRCm39) |
D67G |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,649,900 (GRCm39) |
E842G |
probably damaging |
Het |
| Fam210b |
A |
G |
2: 172,193,423 (GRCm39) |
K79E |
probably benign |
Het |
| Gm4799 |
T |
C |
10: 82,790,589 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr146 |
A |
T |
5: 139,378,467 (GRCm39) |
R90W |
probably damaging |
Het |
| H2ac10 |
A |
G |
13: 23,718,451 (GRCm39) |
H124R |
probably benign |
Het |
| Hal |
A |
G |
10: 93,339,404 (GRCm39) |
I498V |
possibly damaging |
Het |
| Hnrnpm |
C |
T |
17: 33,877,386 (GRCm39) |
G365R |
probably damaging |
Het |
| Jakmip3 |
A |
G |
7: 138,627,217 (GRCm39) |
D407G |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,405,536 (GRCm39) |
I1185V |
possibly damaging |
Het |
| Kcnj16 |
A |
T |
11: 110,916,036 (GRCm39) |
M233L |
probably benign |
Het |
| Klhl5 |
A |
T |
5: 65,306,143 (GRCm39) |
Q370L |
probably damaging |
Het |
| L3hypdh |
C |
T |
12: 72,123,917 (GRCm39) |
|
probably null |
Het |
| Las1l |
A |
G |
X: 94,996,908 (GRCm39) |
V130A |
probably damaging |
Het |
| Liat1 |
A |
G |
11: 75,894,051 (GRCm39) |
I143V |
probably benign |
Het |
| Lrp2bp |
A |
T |
8: 46,476,081 (GRCm39) |
Y274F |
probably damaging |
Het |
| Morc2b |
T |
A |
17: 33,356,917 (GRCm39) |
K285M |
probably damaging |
Het |
| Mpp3 |
A |
T |
11: 101,916,216 (GRCm39) |
Y45* |
probably null |
Het |
| Muc4 |
T |
A |
16: 32,598,023 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,353,914 (GRCm39) |
C837R |
possibly damaging |
Het |
| Nr2f6 |
T |
A |
8: 71,828,810 (GRCm39) |
I155F |
probably damaging |
Het |
| Nsg1 |
A |
G |
5: 38,302,145 (GRCm39) |
F50L |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,251 (GRCm39) |
M206L |
probably benign |
Het |
| Ostf1 |
C |
A |
19: 18,567,822 (GRCm39) |
G101C |
probably damaging |
Het |
| Pam |
C |
T |
1: 97,768,474 (GRCm39) |
R552Q |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,395,924 (GRCm39) |
N2108S |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,487,149 (GRCm39) |
H484L |
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,075,812 (GRCm39) |
D466G |
probably damaging |
Het |
| Rfx5 |
G |
A |
3: 94,864,493 (GRCm39) |
R213Q |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,751,440 (GRCm39) |
S3715G |
possibly damaging |
Het |
| Sall2 |
A |
G |
14: 52,552,971 (GRCm39) |
S73P |
probably damaging |
Het |
| Sec22c |
G |
A |
9: 121,513,845 (GRCm39) |
A264V |
probably benign |
Het |
| Sis |
A |
C |
3: 72,796,319 (GRCm39) |
|
probably benign |
Het |
| Spam1 |
T |
A |
6: 24,800,802 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
T |
C |
3: 79,252,839 (GRCm39) |
I18T |
possibly damaging |
Het |
| St13 |
T |
A |
15: 81,250,583 (GRCm39) |
I318F |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,374,382 (GRCm39) |
I142V |
probably damaging |
Het |
| Tasor2 |
C |
T |
13: 3,635,371 (GRCm39) |
E479K |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,809,903 (GRCm39) |
T1100S |
possibly damaging |
Het |
| Ttll6 |
G |
A |
11: 96,026,366 (GRCm39) |
W90* |
probably null |
Het |
| Txndc12 |
T |
A |
4: 108,691,989 (GRCm39) |
C9* |
probably null |
Het |
| Ubr7 |
C |
T |
12: 102,734,535 (GRCm39) |
Q270* |
probably null |
Het |
| Vps33b |
A |
G |
7: 79,934,817 (GRCm39) |
S302G |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,997 (GRCm39) |
V508E |
probably damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,703 (GRCm39) |
L111Q |
possibly damaging |
Het |
| Zfp410 |
T |
C |
12: 84,379,702 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
T |
7: 12,509,223 (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 |
|
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 |
|
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