Incidental Mutation 'R7993:Adamts17'
| ID |
651867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts17
|
| Ensembl Gene |
ENSMUSG00000058145 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
| Synonyms |
AU023434 |
| MMRRC Submission |
046034-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R7993 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66489483-66802919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66499612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 53
(V53A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098382]
[ENSMUST00000107478]
[ENSMUST00000125014]
|
| AlphaFold |
E9Q4D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098382
AA Change: V202A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: V202A
| 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: V202A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: V202A
| 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 |
possibly damaging
Transcript: ENSMUST00000125014
AA Change: V53A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (69/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,803,231 (GRCm39) |
V689D |
possibly damaging |
Het |
| Adcy9 |
T |
C |
16: 4,235,866 (GRCm39) |
N515S |
probably damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,542 (GRCm39) |
N183K |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,878 (GRCm39) |
V88A |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,406 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
C |
10: 127,961,491 (GRCm39) |
F1706L |
probably benign |
Het |
| Cacnb2 |
A |
C |
2: 14,968,731 (GRCm39) |
N199T |
probably benign |
Het |
| Caskin1 |
T |
A |
17: 24,718,279 (GRCm39) |
Y296* |
probably null |
Het |
| Cemip |
C |
A |
7: 83,613,383 (GRCm39) |
G605V |
probably damaging |
Het |
| Ciart |
T |
A |
3: 95,786,206 (GRCm39) |
K290* |
probably null |
Het |
| Cideb |
G |
T |
14: 55,995,899 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,793,097 (GRCm39) |
Y413N |
probably damaging |
Het |
| Csrp1 |
T |
A |
1: 135,674,453 (GRCm39) |
|
probably null |
Het |
| Cyp2j8 |
C |
T |
4: 96,335,456 (GRCm39) |
|
probably null |
Het |
| Dcbld1 |
T |
A |
10: 52,137,884 (GRCm39) |
Y49* |
probably null |
Het |
| Dpep1 |
T |
C |
8: 123,927,460 (GRCm39) |
V338A |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,090,713 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,888,524 (GRCm39) |
|
probably null |
Het |
| Foxd3 |
C |
T |
4: 99,544,841 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gipc3 |
T |
C |
10: 81,173,805 (GRCm39) |
D269G |
probably damaging |
Het |
| Gm4861 |
G |
A |
3: 137,256,417 (GRCm39) |
T63M |
probably damaging |
Het |
| Hmga1b |
C |
A |
11: 120,653,833 (GRCm39) |
A40E |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,306,264 (GRCm39) |
M3889K |
probably benign |
Het |
| Inhca |
T |
A |
9: 103,140,332 (GRCm39) |
K462N |
probably benign |
Het |
| Klk14 |
T |
A |
7: 43,344,367 (GRCm39) |
M226K |
probably benign |
Het |
| Liph |
T |
G |
16: 21,777,562 (GRCm39) |
M413L |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,348,787 (GRCm39) |
D2636G |
unknown |
Het |
| Lrrk1 |
G |
A |
7: 65,912,202 (GRCm39) |
T1786M |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,135,057 (GRCm39) |
S1958G |
possibly damaging |
Het |
| Msto1 |
A |
G |
3: 88,817,481 (GRCm39) |
F484S |
probably benign |
Het |
| Muc2 |
C |
T |
7: 141,308,173 (GRCm39) |
H890Y |
|
Het |
| Nectin3 |
T |
C |
16: 46,279,184 (GRCm39) |
I265V |
probably benign |
Het |
| Nectin4 |
C |
T |
1: 171,211,322 (GRCm39) |
T282I |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,082,134 (GRCm39) |
|
probably null |
Het |
| Nsmaf |
T |
C |
4: 6,398,647 (GRCm39) |
D819G |
probably benign |
Het |
| Or8b8 |
A |
T |
9: 37,808,633 (GRCm39) |
|
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,044 (GRCm39) |
D665V |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,895,262 (GRCm39) |
D616G |
|
Het |
| Plppr2 |
A |
T |
9: 21,858,258 (GRCm39) |
H286L |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,572,085 (GRCm39) |
T1203A |
probably damaging |
Het |
| Ppm1d |
T |
A |
11: 85,217,777 (GRCm39) |
V180E |
probably damaging |
Het |
| Ppp1r18 |
T |
A |
17: 36,184,718 (GRCm39) |
I551N |
probably benign |
Het |
| Psg28 |
C |
T |
7: 18,160,401 (GRCm39) |
C265Y |
possibly damaging |
Het |
| Psmc1 |
A |
G |
12: 100,081,824 (GRCm39) |
D142G |
probably benign |
Het |
| Rabgap1l |
G |
T |
1: 160,528,424 (GRCm39) |
A394E |
probably damaging |
Het |
| Rbm48 |
G |
A |
5: 3,640,470 (GRCm39) |
P303L |
probably benign |
Het |
| Rnf167 |
T |
C |
11: 70,540,821 (GRCm39) |
V185A |
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,999,443 (GRCm39) |
Q1169L |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,277,541 (GRCm39) |
D607G |
probably damaging |
Het |
| Scamp1 |
A |
G |
13: 94,366,294 (GRCm39) |
Y134H |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,492,490 (GRCm39) |
E600K |
probably damaging |
Het |
| Scn3b |
A |
G |
9: 40,193,840 (GRCm39) |
E189G |
possibly damaging |
Het |
| Scn4b |
G |
T |
9: 45,059,007 (GRCm39) |
V93L |
probably benign |
Het |
| Serpina3i |
A |
T |
12: 104,231,407 (GRCm39) |
T15S |
possibly damaging |
Het |
| Slc2a13 |
A |
T |
15: 91,296,356 (GRCm39) |
C319* |
probably null |
Het |
| Tdrd1 |
A |
G |
19: 56,854,437 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
A |
14: 51,067,710 (GRCm39) |
I2169F |
probably benign |
Het |
| Tm4sf19 |
A |
G |
16: 32,226,458 (GRCm39) |
D124G |
possibly damaging |
Het |
| Trim2 |
T |
C |
3: 84,098,026 (GRCm39) |
Y434C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,327,622 (GRCm39) |
S1056T |
|
Het |
| Vmn1r230 |
T |
A |
17: 21,067,312 (GRCm39) |
M167K |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,862 (GRCm39) |
M685L |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,478,047 (GRCm39) |
V3554D |
probably damaging |
Het |
| Zfp1010 |
C |
T |
2: 176,957,015 (GRCm39) |
G161D |
probably damaging |
Het |
| Zfp458 |
A |
G |
13: 67,405,234 (GRCm39) |
S402P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,011,907 (GRCm39) |
A1291E |
probably damaging |
Het |
| Zmat5 |
G |
A |
11: 4,672,379 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
C |
A |
2: 166,897,857 (GRCm39) |
E356* |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,808,291 (GRCm39) |
T292A |
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 |
|
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 |
|
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'- ATAGCCAACGTACTGCTGGG -3'
(R):5'- CCACAACTCTATGATGTTCATGCAG -3'
Sequencing Primer
(F):5'- AGGATGACCAATGTCTTGTCTTC -3'
(R):5'- GGCAAGTCTTCACCTATG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation