Incidental Mutation 'R8178:Adamts17'
| ID |
634484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts17
|
| Ensembl Gene |
ENSMUSG00000058145 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
| Synonyms |
AU023434 |
| MMRRC Submission |
067603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8178 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66489483-66802919 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66499464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 4
(I4V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098382]
[ENSMUST00000107478]
[ENSMUST00000125014]
|
| AlphaFold |
E9Q4D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098382
AA Change: I153V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: I153V
| 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: I153V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: I153V
| 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 |
possibly damaging
Transcript: ENSMUST00000125014
AA Change: I4V
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
A |
G |
17: 79,935,699 (GRCm39) |
I276V |
|
Het |
| Acsm5 |
C |
A |
7: 119,141,618 (GRCm39) |
H538N |
probably damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,675 (GRCm39) |
V146A |
probably damaging |
Het |
| Ankrd52 |
T |
A |
10: 128,225,170 (GRCm39) |
L877Q |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,189,481 (GRCm39) |
D394V |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,983 (GRCm39) |
E413G |
unknown |
Het |
| Arhgef5 |
T |
C |
6: 43,252,119 (GRCm39) |
S957P |
probably benign |
Het |
| Arsk |
G |
T |
13: 76,239,861 (GRCm39) |
T114K |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,733,876 (GRCm39) |
V406A |
probably damaging |
Het |
| Cbr3 |
C |
A |
16: 93,480,393 (GRCm39) |
Q61K |
probably benign |
Het |
| Ccdc73 |
C |
T |
2: 104,821,557 (GRCm39) |
S502L |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,098,931 (GRCm39) |
|
probably null |
Het |
| Cep170b |
T |
A |
12: 112,705,719 (GRCm39) |
M1159K |
possibly damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,836 (GRCm39) |
S1159T |
|
Het |
| Cit |
C |
T |
5: 116,107,131 (GRCm39) |
R1088W |
probably damaging |
Het |
| Col16a1 |
A |
T |
4: 129,947,270 (GRCm39) |
H205L |
unknown |
Het |
| Cpt1c |
T |
G |
7: 44,609,077 (GRCm39) |
H748P |
probably damaging |
Het |
| Cstdc4 |
T |
G |
16: 36,006,772 (GRCm39) |
Y35* |
probably null |
Het |
| Dcaf8 |
A |
T |
1: 172,013,886 (GRCm39) |
D359V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,618,422 (GRCm39) |
Y277C |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,832,790 (GRCm39) |
K898R |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,037,208 (GRCm39) |
T3345S |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,803,815 (GRCm39) |
N254Y |
probably damaging |
Het |
| F2 |
A |
T |
2: 91,460,618 (GRCm39) |
|
probably null |
Het |
| Fam216b |
G |
C |
14: 78,322,504 (GRCm39) |
H67D |
possibly damaging |
Het |
| Fbxl17 |
A |
C |
17: 63,794,967 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
A |
7: 51,547,026 (GRCm39) |
M59K |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,065,664 (GRCm39) |
G554D |
probably damaging |
Het |
| Gys2 |
C |
T |
6: 142,402,138 (GRCm39) |
G234R |
probably damaging |
Het |
| Ifngr1 |
A |
G |
10: 19,485,241 (GRCm39) |
I413M |
probably benign |
Het |
| Inpp5a |
C |
T |
7: 139,118,153 (GRCm39) |
R236C |
probably damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
| Lingo3 |
T |
A |
10: 80,670,464 (GRCm39) |
T489S |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 85,079,575 (GRCm39) |
L227P |
probably damaging |
Het |
| Morn1 |
A |
G |
4: 155,213,160 (GRCm39) |
Q356R |
probably benign |
Het |
| Naxd |
A |
C |
8: 11,561,987 (GRCm39) |
K275Q |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nck1 |
A |
T |
9: 100,379,790 (GRCm39) |
W154R |
probably damaging |
Het |
| Or10d5 |
G |
A |
9: 39,861,708 (GRCm39) |
R120C |
probably benign |
Het |
| Or1ad8 |
T |
A |
11: 50,898,437 (GRCm39) |
C213S |
probably damaging |
Het |
| Or5aq6 |
C |
T |
2: 86,923,220 (GRCm39) |
V174M |
possibly damaging |
Het |
| Or7e175 |
T |
C |
9: 20,048,571 (GRCm39) |
V53A |
possibly damaging |
Het |
| Pdxk |
C |
T |
10: 78,289,338 (GRCm39) |
V38M |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pes1 |
T |
C |
11: 3,927,718 (GRCm39) |
S482P |
probably benign |
Het |
| Pglyrp1 |
T |
A |
7: 18,618,657 (GRCm39) |
F3I |
unknown |
Het |
| Pira13 |
T |
C |
7: 3,824,260 (GRCm39) |
K631R |
unknown |
Het |
| Plce1 |
T |
A |
19: 38,761,423 (GRCm39) |
F2092I |
possibly damaging |
Het |
| Pms1 |
A |
G |
1: 53,246,505 (GRCm39) |
S345P |
probably benign |
Het |
| Pom121l12 |
C |
A |
11: 14,550,011 (GRCm39) |
P239H |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,859,018 (GRCm39) |
I1424T |
probably benign |
Het |
| Prmt6 |
A |
G |
3: 110,158,140 (GRCm39) |
Y50H |
probably damaging |
Het |
| Rbm39 |
T |
C |
2: 155,996,195 (GRCm39) |
I397V |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,238,307 (GRCm39) |
V519A |
possibly damaging |
Het |
| Sec23a |
T |
C |
12: 59,053,980 (GRCm39) |
E6G |
possibly damaging |
Het |
| Shank1 |
T |
C |
7: 43,962,748 (GRCm39) |
|
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,105,505 (GRCm39) |
I378V |
probably benign |
Het |
| Smn1 |
T |
A |
13: 100,267,303 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
C |
6: 28,874,975 (GRCm39) |
F632S |
possibly damaging |
Het |
| Sun5 |
T |
C |
2: 153,698,131 (GRCm39) |
|
probably null |
Het |
| Tial1 |
T |
C |
7: 128,046,614 (GRCm39) |
R209G |
probably benign |
Het |
| Trhde |
T |
C |
10: 114,244,598 (GRCm39) |
I963V |
possibly damaging |
Het |
| Tssc4 |
G |
T |
7: 142,623,932 (GRCm39) |
R80L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,642,852 (GRCm39) |
N13261K |
probably damaging |
Het |
| Ugdh |
A |
T |
5: 65,581,005 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,472 (GRCm39) |
E273V |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,386,988 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,931,398 (GRCm39) |
S196G |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,298,335 (GRCm39) |
C324S |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,262,959 (GRCm39) |
T294A |
probably benign |
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 |
|
|
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 |
|
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'- TCAGTGAGATATTCTTAAATCAGGTGG -3'
(R):5'- GACCCACAGAGTGTCAGCTG -3'
Sequencing Primer
(F):5'- TATTCTTAAATCAGGTGGAGAGCG -3'
(R):5'- CTCTTCCAATGAATGGGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation