Incidental Mutation 'R1763:Adamts17'
ID |
193201 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts17
|
Ensembl Gene |
ENSMUSG00000058145 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
Synonyms |
AU023434 |
MMRRC Submission |
039795-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R1763 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
66489483-66802919 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66797463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 1060
(N1060S)
|
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: N1060S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095984 Gene: ENSMUSG00000058145 AA Change: N1060S
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: N1033S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103102 Gene: ENSMUSG00000058145 AA Change: N1033S
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 |
|
Meta Mutation Damage Score |
0.2898 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.0%
|
Validation Efficiency |
98% (85/87) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
G |
4: 144,396,529 (GRCm39) |
V401A |
probably benign |
Het |
Abca4 |
G |
A |
3: 121,904,330 (GRCm39) |
V794M |
probably benign |
Het |
Abca4 |
A |
T |
3: 121,957,479 (GRCm39) |
T772S |
probably damaging |
Het |
Acox3 |
G |
A |
5: 35,765,683 (GRCm39) |
|
probably null |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Als2 |
T |
C |
1: 59,214,150 (GRCm39) |
Y1346C |
probably benign |
Het |
Apol10b |
A |
T |
15: 77,469,215 (GRCm39) |
F321I |
probably benign |
Het |
Atp5pb |
A |
G |
3: 105,858,905 (GRCm39) |
|
probably null |
Het |
Bloc1s5 |
A |
G |
13: 38,803,060 (GRCm39) |
|
probably benign |
Het |
Btbd9 |
T |
C |
17: 30,553,271 (GRCm39) |
N397S |
possibly damaging |
Het |
Cacna1d |
A |
G |
14: 29,821,153 (GRCm39) |
V1121A |
probably benign |
Het |
Cad |
G |
A |
5: 31,218,295 (GRCm39) |
V460I |
probably damaging |
Het |
Caprin2 |
A |
T |
6: 148,744,619 (GRCm39) |
D935E |
probably damaging |
Het |
Ccdc150 |
A |
T |
1: 54,393,795 (GRCm39) |
K686N |
probably benign |
Het |
Ccnt2 |
T |
C |
1: 127,727,143 (GRCm39) |
F186L |
possibly damaging |
Het |
Cd5l |
G |
A |
3: 87,275,187 (GRCm39) |
|
probably null |
Het |
Chrna7 |
A |
G |
7: 62,749,000 (GRCm39) |
V494A |
probably benign |
Het |
Clec2i |
T |
G |
6: 128,872,388 (GRCm39) |
Y198* |
probably null |
Het |
Col22a1 |
A |
G |
15: 71,879,025 (GRCm39) |
V44A |
probably damaging |
Het |
Cspg4 |
T |
A |
9: 56,794,263 (GRCm39) |
I666N |
probably damaging |
Het |
Cyp3a16 |
A |
T |
5: 145,401,841 (GRCm39) |
|
probably null |
Het |
Dlk1 |
G |
T |
12: 109,424,045 (GRCm39) |
C102F |
probably damaging |
Het |
Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
Dscc1 |
T |
A |
15: 54,947,535 (GRCm39) |
H215L |
probably damaging |
Het |
Dus1l |
C |
G |
11: 120,686,497 (GRCm39) |
G15R |
probably benign |
Het |
Eps8l1 |
G |
T |
7: 4,474,822 (GRCm39) |
V268L |
probably benign |
Het |
F2 |
A |
C |
2: 91,465,251 (GRCm39) |
C104W |
probably damaging |
Het |
F5 |
C |
A |
1: 164,020,104 (GRCm39) |
Q860K |
probably benign |
Het |
Fmn2 |
T |
C |
1: 174,329,832 (GRCm39) |
L74P |
unknown |
Het |
Frmd6 |
G |
A |
12: 70,940,396 (GRCm39) |
R347Q |
possibly damaging |
Het |
Gabbr1 |
T |
G |
17: 37,365,659 (GRCm39) |
S158A |
probably damaging |
Het |
Galc |
T |
C |
12: 98,200,525 (GRCm39) |
N295S |
probably damaging |
Het |
Gm6408 |
A |
T |
5: 146,419,132 (GRCm39) |
N49I |
probably damaging |
Het |
Grm1 |
T |
A |
10: 10,955,610 (GRCm39) |
T225S |
possibly damaging |
Het |
Grm8 |
C |
T |
6: 27,285,866 (GRCm39) |
V849I |
possibly damaging |
Het |
Hmcn2 |
A |
G |
2: 31,204,602 (GRCm39) |
D59G |
probably damaging |
Het |
Iars1 |
G |
A |
13: 49,876,553 (GRCm39) |
|
probably null |
Het |
Ifi27l2a |
C |
T |
12: 103,403,941 (GRCm39) |
A127V |
possibly damaging |
Het |
Ikbip |
A |
G |
10: 90,932,343 (GRCm39) |
N329S |
probably damaging |
Het |
Ikbke |
T |
C |
1: 131,193,614 (GRCm39) |
T479A |
probably benign |
Het |
Krt12 |
T |
A |
11: 99,306,886 (GRCm39) |
N472I |
probably damaging |
Het |
Lmnb2 |
A |
T |
10: 80,743,025 (GRCm39) |
L193Q |
probably damaging |
Het |
Lrriq4 |
T |
C |
3: 30,704,401 (GRCm39) |
V128A |
probably benign |
Het |
Map4k4 |
C |
A |
1: 40,039,917 (GRCm39) |
|
probably benign |
Het |
Mtmr7 |
T |
C |
8: 41,004,852 (GRCm39) |
T575A |
probably benign |
Het |
Myh13 |
G |
A |
11: 67,225,402 (GRCm39) |
A256T |
probably benign |
Het |
Napepld |
A |
G |
5: 21,888,408 (GRCm39) |
Y14H |
probably benign |
Het |
Npr1 |
T |
C |
3: 90,366,644 (GRCm39) |
T552A |
probably damaging |
Het |
Nudt15 |
A |
G |
14: 73,759,087 (GRCm39) |
F127S |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,965,614 (GRCm39) |
S1733T |
probably benign |
Het |
Or11a4 |
T |
C |
17: 37,536,321 (GRCm39) |
F102L |
probably benign |
Het |
Or4c102 |
A |
G |
2: 88,422,780 (GRCm39) |
I211V |
probably benign |
Het |
Or4c10b |
G |
A |
2: 89,711,473 (GRCm39) |
G101E |
probably damaging |
Het |
Or6z1 |
T |
G |
7: 6,504,440 (GRCm39) |
I262L |
probably benign |
Het |
Or8b44 |
A |
G |
9: 38,410,334 (GRCm39) |
Y123C |
probably damaging |
Het |
Paqr7 |
A |
T |
4: 134,234,409 (GRCm39) |
I89F |
probably benign |
Het |
Pidd1 |
C |
A |
7: 141,019,543 (GRCm39) |
V706L |
probably benign |
Het |
Polr3c |
A |
T |
3: 96,620,911 (GRCm39) |
I469N |
probably damaging |
Het |
Ppip5k1 |
A |
G |
2: 121,179,028 (GRCm39) |
Y233H |
probably damaging |
Het |
Psmc3 |
A |
G |
2: 90,886,340 (GRCm39) |
T166A |
possibly damaging |
Het |
Ptchd3 |
A |
T |
11: 121,733,368 (GRCm39) |
I753L |
probably benign |
Het |
Rad21 |
T |
C |
15: 51,841,566 (GRCm39) |
K50R |
probably damaging |
Het |
Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rgs20 |
C |
T |
1: 4,980,863 (GRCm39) |
R154Q |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,178,628 (GRCm39) |
D1449G |
probably damaging |
Het |
Sema4g |
C |
T |
19: 44,990,044 (GRCm39) |
R708* |
probably null |
Het |
Septin9 |
T |
C |
11: 117,181,254 (GRCm39) |
I18T |
probably benign |
Het |
Serpinb6b |
A |
G |
13: 33,162,041 (GRCm39) |
E280G |
probably damaging |
Het |
Slamf6 |
T |
C |
1: 171,770,154 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
G |
A |
7: 44,937,158 (GRCm39) |
W554* |
probably null |
Het |
Slco1a4 |
A |
C |
6: 141,758,457 (GRCm39) |
I518R |
probably benign |
Het |
Stab1 |
T |
A |
14: 30,890,373 (GRCm39) |
Q26L |
probably benign |
Het |
Stox1 |
A |
G |
10: 62,503,744 (GRCm39) |
F104L |
probably damaging |
Het |
Suco |
T |
C |
1: 161,662,518 (GRCm39) |
K638E |
possibly damaging |
Het |
Synpo |
T |
C |
18: 60,735,856 (GRCm39) |
K458E |
probably damaging |
Het |
Szt2 |
A |
T |
4: 118,229,565 (GRCm39) |
W2820R |
unknown |
Het |
Tmtc1 |
C |
A |
6: 148,196,116 (GRCm39) |
G499W |
probably damaging |
Het |
Tonsl |
A |
C |
15: 76,522,266 (GRCm39) |
S242R |
probably damaging |
Het |
Trpc4 |
G |
T |
3: 54,102,243 (GRCm39) |
S47I |
possibly damaging |
Het |
Zfp106 |
G |
A |
2: 120,350,909 (GRCm39) |
R1581C |
probably benign |
Het |
Zfp27 |
A |
G |
7: 29,594,801 (GRCm39) |
L388P |
possibly 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 |
|
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'- TCCTTGACATGCAGATATTGTGGGC -3'
(R):5'- GGGGATGGTCAAACACCTCTGAAC -3'
Sequencing Primer
(F):5'- GTCAGGTCACAGACCCTCAG -3'
(R):5'- ACCTTCTTCAGCCCTAGCAAATG -3'
|
Posted On |
2014-05-23 |