Incidental Mutation 'R7355:Adamts17'
| ID |
570878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts17
|
| Ensembl Gene |
ENSMUSG00000058145 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
| Synonyms |
AU023434 |
| MMRRC Submission |
045441-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7355 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66489483-66802919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66725052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 160
(V160A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098382]
[ENSMUST00000107478]
|
| AlphaFold |
E9Q4D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098382
AA Change: V791A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: V791A
| 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 damaging
Transcript: ENSMUST00000107478
AA Change: V764A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: V764A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121836
Gene: ENSMUSG00000058145
AA Change: V160A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADAM_spacer1
|
68 |
178 |
4e-31 |
PFAM |
|
Blast:TSP1
|
199 |
234 |
6e-17 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (72/72) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
A |
17: 24,486,621 (GRCm39) |
R1469W |
probably benign |
Het |
| Acad10 |
G |
T |
5: 121,768,780 (GRCm39) |
Y728* |
probably null |
Het |
| Astn1 |
A |
T |
1: 158,491,846 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
T |
C |
14: 60,282,453 (GRCm39) |
K104E |
possibly damaging |
Het |
| Axl |
T |
C |
7: 25,473,531 (GRCm39) |
Y365C |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,423,173 (GRCm39) |
Y409F |
probably benign |
Het |
| Caln1 |
A |
T |
5: 130,443,732 (GRCm39) |
T22S |
probably benign |
Het |
| Camk1 |
C |
A |
6: 113,315,307 (GRCm39) |
G164C |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,861,655 (GRCm39) |
T512A |
possibly damaging |
Het |
| Ceacam5 |
A |
G |
7: 17,481,312 (GRCm39) |
D353G |
probably damaging |
Het |
| Cep162 |
C |
A |
9: 87,136,008 (GRCm39) |
E12* |
probably null |
Het |
| Cfh |
A |
T |
1: 140,064,553 (GRCm39) |
V365E |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,752,196 (GRCm39) |
H231R |
unknown |
Het |
| Cntnap3 |
T |
C |
13: 64,919,776 (GRCm39) |
T694A |
probably benign |
Het |
| Colq |
C |
A |
14: 31,267,066 (GRCm39) |
G158V |
probably damaging |
Het |
| Ctif |
G |
A |
18: 75,743,756 (GRCm39) |
H139Y |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,042,144 (GRCm39) |
F934Y |
probably damaging |
Het |
| Dclre1a |
T |
A |
19: 56,535,567 (GRCm39) |
T6S |
possibly damaging |
Het |
| Dnmbp |
T |
C |
19: 43,890,180 (GRCm39) |
D529G |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,147,377 (GRCm39) |
Q3955L |
probably benign |
Het |
| Gjd4 |
A |
G |
18: 9,280,860 (GRCm39) |
S73P |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 36,274,226 (GRCm39) |
Q1460K |
probably benign |
Het |
| Golga5 |
A |
T |
12: 102,438,494 (GRCm39) |
I70F |
possibly damaging |
Het |
| Gon4l |
T |
A |
3: 88,770,827 (GRCm39) |
I502N |
probably damaging |
Het |
| Gtf2ird2 |
C |
G |
5: 134,245,491 (GRCm39) |
A583G |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,838,081 (GRCm39) |
W694G |
possibly damaging |
Het |
| Ifit1bl2 |
C |
T |
19: 34,597,061 (GRCm39) |
G185D |
probably damaging |
Het |
| Igfbp6 |
G |
A |
15: 102,056,375 (GRCm39) |
A145T |
probably benign |
Het |
| Junb |
C |
T |
8: 85,705,013 (GRCm39) |
A16T |
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,643,269 (GRCm39) |
V333I |
possibly damaging |
Het |
| Ly6c1 |
T |
C |
15: 74,919,256 (GRCm39) |
T45A |
possibly damaging |
Het |
| Mon2 |
T |
A |
10: 122,845,421 (GRCm39) |
Q1428L |
probably benign |
Het |
| Nfatc2ip |
C |
T |
7: 125,986,783 (GRCm39) |
|
probably null |
Het |
| Olfml3 |
C |
A |
3: 103,643,395 (GRCm39) |
G329W |
probably damaging |
Het |
| Or10ag56 |
T |
C |
2: 87,139,754 (GRCm39) |
V207A |
probably benign |
Het |
| Or10al2 |
A |
G |
17: 37,983,301 (GRCm39) |
Y129C |
probably benign |
Het |
| Or6d15 |
T |
A |
6: 116,559,916 (GRCm39) |
|
probably benign |
Het |
| Or9g3 |
C |
T |
2: 85,584,023 (GRCm39) |
P106L |
probably benign |
Het |
| Pcsk7 |
A |
G |
9: 45,820,672 (GRCm39) |
M35V |
probably benign |
Het |
| Phf14 |
A |
G |
6: 12,081,006 (GRCm39) |
N921S |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,011,982 (GRCm39) |
S396F |
possibly damaging |
Het |
| Ppp4r4 |
A |
T |
12: 103,570,841 (GRCm39) |
K766* |
probably null |
Het |
| Pprc1 |
T |
C |
19: 46,053,785 (GRCm39) |
V1105A |
unknown |
Het |
| Prdm9 |
T |
G |
17: 15,765,497 (GRCm39) |
N428H |
probably benign |
Het |
| Prkcg |
C |
T |
7: 3,372,025 (GRCm39) |
T497I |
possibly damaging |
Het |
| Prkcz |
A |
G |
4: 155,441,953 (GRCm39) |
W60R |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,822,571 (GRCm39) |
F217L |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,763,906 (GRCm39) |
Y283* |
probably null |
Het |
| Rest |
A |
G |
5: 77,415,875 (GRCm39) |
M30V |
probably benign |
Het |
| Rfxank |
C |
T |
8: 70,587,957 (GRCm39) |
R150H |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,042,175 (GRCm39) |
Q250L |
probably damaging |
Het |
| Sgk2 |
A |
G |
2: 162,854,987 (GRCm39) |
D366G |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,076,155 (GRCm39) |
D596G |
probably benign |
Het |
| Siglec1 |
A |
T |
2: 130,922,371 (GRCm39) |
L568Q |
probably benign |
Het |
| Slain1 |
AT |
ATT |
14: 103,940,012 (GRCm39) |
|
probably null |
Het |
| Slc10a5 |
A |
T |
3: 10,399,375 (GRCm39) |
Y428* |
probably null |
Het |
| Slc25a54 |
T |
C |
3: 109,010,085 (GRCm39) |
W195R |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,239,422 (GRCm39) |
I414T |
probably damaging |
Het |
| Snx4 |
C |
T |
16: 33,087,236 (GRCm39) |
P127L |
probably damaging |
Het |
| Spdl1 |
A |
T |
11: 34,714,191 (GRCm39) |
L166H |
not run |
Het |
| Tapt1 |
C |
T |
5: 44,334,459 (GRCm39) |
V511I |
probably benign |
Het |
| Tbata |
A |
G |
10: 61,010,099 (GRCm39) |
|
probably benign |
Het |
| Tbx4 |
T |
A |
11: 85,802,835 (GRCm39) |
V264E |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,278,438 (GRCm39) |
Y1023* |
probably null |
Het |
| Thop1 |
A |
G |
10: 80,911,465 (GRCm39) |
D117G |
probably damaging |
Het |
| Trip12 |
A |
G |
1: 84,792,604 (GRCm39) |
L13P |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,969,616 (GRCm39) |
N93S |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,237,754 (GRCm39) |
V637E |
probably damaging |
Het |
| Vinac1 |
G |
T |
2: 128,879,149 (GRCm39) |
Q926K |
unknown |
Het |
| Yipf3 |
T |
A |
17: 46,561,566 (GRCm39) |
M168K |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,173,287 (GRCm39) |
C185* |
probably null |
Het |
| Zfyve21 |
A |
T |
12: 111,791,485 (GRCm39) |
I157F |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,286,828 (GRCm39) |
D2253E |
probably 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 |
|
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 |
|
|
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'- AGAAAGAGTGTGCTCACCCC -3'
(R):5'- ATTTCTTGAGCCCAGCTGC -3'
Sequencing Primer
(F):5'- GTGTGCTCACCCCAGACAAG -3'
(R):5'- AGCCCAGCTGCTCCCTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation