Incidental Mutation 'R7129:Adamts17'
| ID |
552520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts17
|
| Ensembl Gene |
ENSMUSG00000058145 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
| Synonyms |
AU023434 |
| MMRRC Submission |
045214-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R7129 (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 66770758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 956
(S956P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098382]
[ENSMUST00000107478]
|
| AlphaFold |
E9Q4D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098382
AA Change: S956P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: S956P
| 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 |
possibly damaging
Transcript: ENSMUST00000107478
AA Change: S929P
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: S929P
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,199 (GRCm39) |
E443G |
probably damaging |
Het |
| 2700049A03Rik |
A |
G |
12: 71,263,004 (GRCm39) |
|
probably null |
Het |
| 3110082I17Rik |
A |
G |
5: 139,349,738 (GRCm39) |
Y104H |
probably damaging |
Het |
| Abcg4 |
T |
C |
9: 44,190,681 (GRCm39) |
K282E |
probably benign |
Het |
| Adh1 |
T |
C |
3: 137,986,235 (GRCm39) |
V74A |
probably damaging |
Het |
| Akt1 |
A |
T |
12: 112,626,083 (GRCm39) |
M63K |
probably benign |
Het |
| Arfrp1 |
G |
A |
2: 181,001,344 (GRCm39) |
R177* |
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,346 (GRCm39) |
E52G |
possibly damaging |
Het |
| BC051019 |
T |
C |
7: 109,319,825 (GRCm39) |
S10G |
|
Het |
| Bfsp2 |
T |
A |
9: 103,357,118 (GRCm39) |
E103V |
probably damaging |
Het |
| Bms1 |
G |
T |
6: 118,380,122 (GRCm39) |
C728* |
probably null |
Het |
| Cachd1 |
T |
G |
4: 100,775,263 (GRCm39) |
N159K |
probably null |
Het |
| Cd38 |
A |
G |
5: 44,067,651 (GRCm39) |
N294S |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,852,433 (GRCm39) |
N891S |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,543,370 (GRCm39) |
H836L |
probably damaging |
Het |
| Cldn16 |
A |
T |
16: 26,301,388 (GRCm39) |
D232V |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,689 (GRCm39) |
I425N |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,878,878 (GRCm39) |
N1506D |
probably damaging |
Het |
| Dok7 |
T |
C |
5: 35,236,392 (GRCm39) |
S227P |
probably damaging |
Het |
| Elf2 |
T |
C |
3: 51,168,432 (GRCm39) |
R201G |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,787,944 (GRCm39) |
H329R |
probably damaging |
Het |
| Etaa1 |
T |
C |
11: 17,890,339 (GRCm39) |
R841G |
possibly damaging |
Het |
| Exoc4 |
T |
C |
6: 33,948,934 (GRCm39) |
Y926H |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,143 (GRCm39) |
H3849R |
probably benign |
Het |
| Hapln3 |
C |
T |
7: 78,771,572 (GRCm39) |
G106R |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,452,961 (GRCm39) |
|
probably null |
Het |
| Ifitm7 |
A |
T |
16: 13,801,600 (GRCm39) |
I53N |
possibly damaging |
Het |
| Il6ra |
T |
C |
3: 89,778,554 (GRCm39) |
N433D |
probably damaging |
Het |
| Iqch |
C |
T |
9: 63,329,191 (GRCm39) |
V1048I |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,765,588 (GRCm39) |
T862A |
probably benign |
Het |
| Mcrs1 |
G |
A |
15: 99,146,609 (GRCm39) |
L141F |
probably damaging |
Het |
| Nkx3-2 |
A |
G |
5: 41,919,017 (GRCm39) |
S324P |
probably damaging |
Het |
| Nmi |
A |
T |
2: 51,845,936 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,325 (GRCm39) |
K480E |
possibly damaging |
Het |
| Oit3 |
T |
A |
10: 59,264,166 (GRCm39) |
I323F |
probably damaging |
Het |
| Or2ag17 |
T |
C |
7: 106,389,690 (GRCm39) |
K173E |
probably benign |
Het |
| Or5b98 |
A |
T |
19: 12,931,478 (GRCm39) |
H175L |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,291 (GRCm39) |
E640G |
probably benign |
Het |
| Phip |
C |
T |
9: 82,759,353 (GRCm39) |
V1366I |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,422,174 (GRCm39) |
M162V |
probably null |
Het |
| Podxl2 |
A |
G |
6: 88,820,487 (GRCm39) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rab4a |
A |
T |
8: 124,554,069 (GRCm39) |
D40V |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,530,537 (GRCm39) |
F603L |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,851,976 (GRCm39) |
K701* |
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,582,446 (GRCm39) |
D223G |
|
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Tas2r117 |
A |
T |
6: 132,780,350 (GRCm39) |
T163S |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,259,287 (GRCm39) |
D1532G |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,782,441 (GRCm39) |
I146T |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,646,515 (GRCm39) |
G12844W |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,053,775 (GRCm39) |
I190V |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,219,412 (GRCm39) |
I536T |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vmn1r9 |
A |
C |
6: 57,048,611 (GRCm39) |
T229P |
probably damaging |
Het |
| Zbtb21 |
AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC |
16: 97,752,887 (GRCm39) |
|
probably benign |
Het |
| Zbtb8a |
G |
C |
4: 129,254,188 (GRCm39) |
A102G |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,681,971 (GRCm39) |
W57R |
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 |
|
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'- TCAGCCACTGCCAGGTTATC -3'
(R):5'- GCTGGAATGAGCTGGTGATC -3'
Sequencing Primer
(F):5'- TGACTGGTCAGTGGAGCC -3'
(R):5'- TGATCTGGTCACAGGGCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation