Incidental Mutation 'R5444:Adamts17'
ID |
427339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts17
|
Ensembl Gene |
ENSMUSG00000058145 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
Synonyms |
AU023434 |
MMRRC Submission |
043009-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R5444 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
66489483-66802919 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66691647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 610
(H610Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098382]
[ENSMUST00000107478]
|
AlphaFold |
E9Q4D1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098382
AA Change: H610Q
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000095984 Gene: ENSMUSG00000058145 AA Change: H610Q
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: H610Q
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000103102 Gene: ENSMUSG00000058145 AA Change: H610Q
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: ENSMUST00000147880
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
99% (66/67) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930584F24Rik |
A |
G |
5: 26,684,735 (GRCm39) |
|
noncoding transcript |
Het |
Adam11 |
A |
G |
11: 102,663,674 (GRCm39) |
Q284R |
probably damaging |
Het |
Alg6 |
A |
G |
4: 99,629,816 (GRCm39) |
Y131C |
probably benign |
Het |
Apol9b |
T |
C |
15: 77,619,963 (GRCm39) |
I253T |
probably damaging |
Het |
Asb4 |
T |
A |
6: 5,431,040 (GRCm39) |
I425N |
probably damaging |
Het |
Atic |
T |
C |
1: 71,615,876 (GRCm39) |
L474P |
probably damaging |
Het |
B3glct |
C |
T |
5: 149,669,985 (GRCm39) |
T318I |
probably damaging |
Het |
Bbs7 |
T |
C |
3: 36,666,199 (GRCm39) |
K22E |
possibly damaging |
Het |
Cdk17 |
T |
G |
10: 93,053,823 (GRCm39) |
|
probably null |
Het |
Cemip |
T |
A |
7: 83,631,499 (GRCm39) |
T438S |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,122,833 (GRCm39) |
E967G |
probably damaging |
Het |
Cyp2d26 |
G |
T |
15: 82,676,739 (GRCm39) |
D202E |
probably benign |
Het |
Dhdds |
G |
A |
4: 133,698,447 (GRCm39) |
R295* |
probably null |
Het |
Eef2kmt |
G |
A |
16: 5,066,959 (GRCm39) |
|
probably benign |
Het |
Fn3krp |
G |
A |
11: 121,312,430 (GRCm39) |
|
probably null |
Het |
Gjc3 |
G |
A |
5: 137,955,809 (GRCm39) |
L159F |
probably damaging |
Het |
Gm28434 |
T |
C |
5: 88,127,147 (GRCm39) |
|
probably benign |
Het |
Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
Irf7 |
C |
T |
7: 140,844,732 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
C |
12: 119,201,573 (GRCm39) |
|
probably benign |
Het |
Kcnb2 |
A |
T |
1: 15,781,716 (GRCm39) |
I863F |
probably benign |
Het |
Lamb1 |
T |
C |
12: 31,348,908 (GRCm39) |
F647L |
possibly damaging |
Het |
Mccc1 |
T |
A |
3: 36,030,891 (GRCm39) |
M392L |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,938,149 (GRCm39) |
|
probably null |
Het |
Ncstn |
A |
C |
1: 171,900,406 (GRCm39) |
V223G |
possibly damaging |
Het |
Neurl3 |
G |
T |
1: 36,308,571 (GRCm39) |
F80L |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,334,785 (GRCm39) |
M869T |
possibly damaging |
Het |
Nfatc2 |
A |
G |
2: 168,376,810 (GRCm39) |
|
probably benign |
Het |
Nnat |
T |
C |
2: 157,403,137 (GRCm39) |
F26S |
possibly damaging |
Het |
Nos1ap |
T |
C |
1: 170,202,820 (GRCm39) |
Y109C |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,166,124 (GRCm39) |
D194E |
probably damaging |
Het |
Or10ak11 |
T |
A |
4: 118,687,308 (GRCm39) |
I109L |
probably benign |
Het |
Or3a4 |
T |
C |
11: 73,944,803 (GRCm39) |
S261G |
probably benign |
Het |
Or52k2 |
C |
T |
7: 102,254,076 (GRCm39) |
R172* |
probably null |
Het |
Or5b109 |
A |
T |
19: 13,212,322 (GRCm39) |
Q236L |
probably benign |
Het |
Or9g3 |
A |
T |
2: 85,590,263 (GRCm39) |
F152L |
probably benign |
Het |
Ostf1 |
A |
G |
19: 18,558,677 (GRCm39) |
L202S |
probably benign |
Het |
Pdzrn4 |
T |
A |
15: 92,668,806 (GRCm39) |
M747K |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,935,521 (GRCm39) |
D1019G |
probably benign |
Het |
Pnlip |
A |
G |
19: 58,661,595 (GRCm39) |
I95V |
probably benign |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,805,122 (GRCm39) |
T197S |
probably benign |
Het |
Rasgrp3 |
A |
T |
17: 75,810,370 (GRCm39) |
I357F |
probably damaging |
Het |
Rbmxl2 |
G |
C |
7: 106,809,044 (GRCm39) |
G110R |
probably damaging |
Het |
Relch |
C |
T |
1: 105,654,109 (GRCm39) |
T826I |
possibly damaging |
Het |
Rgs22 |
T |
C |
15: 36,015,773 (GRCm39) |
D1037G |
possibly damaging |
Het |
Rnf215 |
A |
G |
11: 4,085,843 (GRCm39) |
I107M |
probably benign |
Het |
Rybp |
A |
T |
6: 100,264,231 (GRCm39) |
M3K |
probably damaging |
Het |
Sgo2b |
T |
C |
8: 64,379,590 (GRCm39) |
S1081G |
possibly damaging |
Het |
Slfn10-ps |
C |
T |
11: 82,926,113 (GRCm39) |
|
noncoding transcript |
Het |
Spag17 |
T |
C |
3: 99,963,468 (GRCm39) |
V1062A |
probably benign |
Het |
Sult2a1 |
A |
T |
7: 13,569,944 (GRCm39) |
I96K |
possibly damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
Thbs3 |
T |
C |
3: 89,130,692 (GRCm39) |
|
probably benign |
Het |
Tmub2 |
T |
C |
11: 102,179,066 (GRCm39) |
L255S |
possibly damaging |
Het |
Trank1 |
T |
A |
9: 111,222,026 (GRCm39) |
L2921Q |
probably benign |
Het |
Trappc14 |
A |
T |
5: 138,259,260 (GRCm39) |
|
probably null |
Het |
Tuba8 |
A |
T |
6: 121,203,060 (GRCm39) |
|
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,805,451 (GRCm39) |
I469V |
probably benign |
Het |
Zfp1007 |
A |
T |
5: 109,823,502 (GRCm39) |
Y649* |
probably null |
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 |
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'- CATGAGAGACCCAGTTACTCTG -3'
(R):5'- ACAGCAGTGTTCTCAGGTGG -3'
Sequencing Primer
(F):5'- AGTTACTCTGGAAACCTTGCC -3'
(R):5'- TCTCAGGTGGGCTGGGC -3'
|
Posted On |
2016-09-01 |