Incidental Mutation 'R0635:Adamts17'
| ID |
56602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts17
|
| Ensembl Gene |
ENSMUSG00000058145 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
| Synonyms |
AU023434 |
| MMRRC Submission |
038824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R0635 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66489483-66802919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66558353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 266
(F266L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098382]
[ENSMUST00000107478]
|
| AlphaFold |
E9Q4D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098382
AA Change: F266L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: F266L
| 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: F266L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: F266L
| 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 |
noncoding transcript
Transcript: ENSMUST00000138009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156396
|
| Meta Mutation Damage Score |
0.5672 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
99% (68/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,264,891 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
A |
G |
9: 30,816,066 (GRCm39) |
L631P |
probably damaging |
Het |
| Adgrb1 |
C |
A |
15: 74,412,741 (GRCm39) |
Q488K |
possibly damaging |
Het |
| Armh4 |
A |
G |
14: 50,010,600 (GRCm39) |
L369S |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,328,538 (GRCm39) |
D109G |
probably damaging |
Het |
| Chil5 |
A |
T |
3: 105,924,519 (GRCm39) |
Y229N |
possibly damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,285 (GRCm39) |
T742A |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,735,808 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
G |
A |
9: 105,805,805 (GRCm39) |
P1034S |
unknown |
Het |
| Daxx |
T |
A |
17: 34,131,618 (GRCm39) |
D442E |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,984,490 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,971,731 (GRCm39) |
F2942S |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,924 (GRCm39) |
T240A |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,890,396 (GRCm39) |
|
probably benign |
Het |
| Gm10272 |
G |
A |
10: 77,542,535 (GRCm39) |
|
probably benign |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Haao |
A |
G |
17: 84,146,003 (GRCm39) |
F83S |
probably damaging |
Het |
| Hdgfl2 |
T |
A |
17: 56,403,057 (GRCm39) |
L177Q |
probably damaging |
Het |
| Hrh1 |
T |
C |
6: 114,457,106 (GRCm39) |
V129A |
probably damaging |
Het |
| Ift43 |
T |
A |
12: 86,131,855 (GRCm39) |
|
probably benign |
Het |
| Il21r |
T |
C |
7: 125,231,678 (GRCm39) |
Y369H |
probably damaging |
Het |
| Il2ra |
C |
T |
2: 11,685,177 (GRCm39) |
T171M |
probably benign |
Het |
| Lao1 |
C |
T |
4: 118,825,493 (GRCm39) |
R438C |
probably benign |
Het |
| Lrrcc1 |
G |
A |
3: 14,624,288 (GRCm39) |
S350N |
probably benign |
Het |
| Mageb5 |
T |
A |
X: 90,823,599 (GRCm39) |
Y260F |
probably benign |
Het |
| Marchf5 |
A |
T |
19: 37,197,807 (GRCm39) |
I159F |
possibly damaging |
Het |
| Mgat4a |
G |
A |
1: 37,491,375 (GRCm39) |
A282V |
probably benign |
Het |
| Mipep |
G |
A |
14: 61,066,839 (GRCm39) |
V420I |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,356,661 (GRCm39) |
F370L |
possibly damaging |
Het |
| Mt1 |
A |
T |
8: 94,906,449 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,149,999 (GRCm39) |
V943A |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,975,013 (GRCm39) |
D58G |
probably benign |
Het |
| Nol8 |
C |
G |
13: 49,830,234 (GRCm39) |
S1106C |
probably benign |
Het |
| Nrm |
C |
A |
17: 36,175,156 (GRCm39) |
Y61* |
probably null |
Het |
| Nusap1 |
A |
G |
2: 119,458,148 (GRCm39) |
T95A |
probably damaging |
Het |
| Ocln |
T |
A |
13: 100,642,744 (GRCm39) |
Q197L |
probably damaging |
Het |
| Or5p70 |
T |
A |
7: 107,994,971 (GRCm39) |
F215I |
probably benign |
Het |
| Oxtr |
A |
G |
6: 112,466,161 (GRCm39) |
Y200H |
probably damaging |
Het |
| Paip2b |
T |
C |
6: 83,786,891 (GRCm39) |
E115G |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,720,216 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,240,419 (GRCm39) |
D1205G |
probably damaging |
Het |
| Phka1 |
G |
A |
X: 101,665,006 (GRCm39) |
R186C |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,946,271 (GRCm39) |
|
probably benign |
Het |
| Pik3r1 |
C |
T |
13: 101,893,926 (GRCm39) |
R81K |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,501,219 (GRCm39) |
D162G |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,502,749 (GRCm39) |
R191G |
probably damaging |
Het |
| Ppp4r3c2 |
T |
C |
X: 88,796,128 (GRCm39) |
|
probably benign |
Het |
| Prss22 |
T |
A |
17: 24,215,662 (GRCm39) |
T87S |
probably benign |
Het |
| Rgr |
T |
A |
14: 36,760,904 (GRCm39) |
R218* |
probably null |
Het |
| Rreb1 |
A |
T |
13: 38,125,540 (GRCm39) |
Q1282L |
possibly damaging |
Het |
| Scel |
T |
A |
14: 103,820,575 (GRCm39) |
|
probably null |
Het |
| Sema6b |
A |
G |
17: 56,436,971 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
T |
C |
11: 102,243,498 (GRCm39) |
E711G |
possibly damaging |
Het |
| Snx19 |
C |
A |
9: 30,340,106 (GRCm39) |
L415M |
probably damaging |
Het |
| Snx19 |
T |
G |
9: 30,340,107 (GRCm39) |
L415R |
probably damaging |
Het |
| Specc1 |
G |
A |
11: 62,009,729 (GRCm39) |
R495Q |
probably damaging |
Het |
| Tead1 |
T |
C |
7: 112,490,913 (GRCm39) |
|
probably benign |
Het |
| Timm10b |
A |
C |
7: 105,289,895 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,186,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,605,861 (GRCm39) |
Y258N |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,383 (GRCm39) |
F570I |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,300,759 (GRCm39) |
V587A |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,840,074 (GRCm39) |
I101T |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,233 (GRCm39) |
H487Q |
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 |
|
|
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'- AGCTTCTTAACCCGCTAAGCTCAC -3'
(R):5'- AGGGTGTCATTGTCAAAGCCAGG -3'
Sequencing Primer
(F):5'- gtatagaaaagttgaacggcagg -3'
(R):5'- TTGTCAAAGCCAGGAGGGTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation