Incidental Mutation 'R8772:Adamts16'
| ID |
664490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts16
|
| Ensembl Gene |
ENSMUSG00000049538 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 16 |
| Synonyms |
|
| MMRRC Submission |
068626-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
70875921-70989930 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70984453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 70
(Y70C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080145]
[ENSMUST00000109694]
[ENSMUST00000123552]
|
| AlphaFold |
Q69Z28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080145
AA Change: Y70C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079041
Gene: ENSMUSG00000049538
AA Change: Y70C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
36 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
57 |
203 |
7.8e-34 |
PFAM |
|
Pfam:Reprolysin_5
|
287 |
470 |
2.9e-13 |
PFAM |
|
Pfam:Reprolysin_4
|
289 |
489 |
1.2e-8 |
PFAM |
|
Pfam:Reprolysin
|
289 |
493 |
5.4e-32 |
PFAM |
|
Pfam:Reprolysin_2
|
306 |
483 |
3.7e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
310 |
442 |
6.4e-11 |
PFAM |
|
TSP1
|
587 |
639 |
1.43e-14 |
SMART |
|
Pfam:ADAM_spacer1
|
744 |
856 |
1.3e-37 |
PFAM |
|
TSP1
|
872 |
926 |
3.48e0 |
SMART |
|
TSP1
|
928 |
985 |
4.84e-3 |
SMART |
|
TSP1
|
987 |
1046 |
1.49e-3 |
SMART |
|
TSP1
|
1052 |
1113 |
3.19e-2 |
SMART |
|
TSP1
|
1127 |
1179 |
7.68e-6 |
SMART |
|
Pfam:PLAC
|
1188 |
1218 |
2.9e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109694
AA Change: Y70C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105316
Gene: ENSMUSG00000049538
AA Change: Y70C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
36 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
56 |
203 |
2.2e-32 |
PFAM |
|
Pfam:Reprolysin_5
|
287 |
470 |
1.8e-13 |
PFAM |
|
Pfam:Reprolysin_4
|
289 |
489 |
7.3e-9 |
PFAM |
|
Pfam:Reprolysin
|
289 |
493 |
4.6e-33 |
PFAM |
|
Pfam:Reprolysin_2
|
306 |
483 |
4.1e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
310 |
442 |
3.3e-10 |
PFAM |
|
TSP1
|
587 |
639 |
1.43e-14 |
SMART |
|
Pfam:ADAM_spacer1
|
744 |
856 |
1.3e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123552
AA Change: Y70C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122031
Gene: ENSMUSG00000049538
AA Change: Y70C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
36 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
56 |
203 |
5.9e-33 |
PFAM |
|
Pfam:Reprolysin_5
|
287 |
470 |
5.1e-14 |
PFAM |
|
Pfam:Reprolysin_4
|
289 |
489 |
2.2e-9 |
PFAM |
|
Pfam:Reprolysin
|
289 |
493 |
1.2e-33 |
PFAM |
|
Pfam:Reprolysin_2
|
306 |
483 |
1.2e-10 |
PFAM |
|
Pfam:Reprolysin_3
|
310 |
442 |
9.7e-11 |
PFAM |
|
TSP1
|
587 |
639 |
1.43e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (83/83) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. This gene is co-expressed with the Wilms tumor protein, Wt1, in the developing glomeruli of embryonic kidneys. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
C |
17: 45,827,903 (GRCm39) |
V574A |
probably benign |
Het |
| AC157566.4 |
T |
C |
15: 76,418,449 (GRCm39) |
Y20C |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,322,179 (GRCm39) |
D231V |
possibly damaging |
Het |
| Acp7 |
C |
T |
7: 28,315,909 (GRCm39) |
V226M |
probably damaging |
Het |
| Actr1a |
A |
G |
19: 46,370,731 (GRCm39) |
|
probably null |
Het |
| Adcy5 |
G |
A |
16: 35,119,958 (GRCm39) |
A1156T |
probably damaging |
Het |
| Ago1 |
A |
T |
4: 126,354,316 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
G |
A |
5: 4,096,255 (GRCm39) |
E2377K |
probably damaging |
Het |
| Asic2 |
A |
G |
11: 81,858,713 (GRCm39) |
S100P |
probably benign |
Het |
| Atp1a1 |
A |
C |
3: 101,487,124 (GRCm39) |
V895G |
probably benign |
Het |
| B3gnt7 |
A |
G |
1: 86,233,294 (GRCm39) |
E180G |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,579,283 (GRCm39) |
F1805I |
|
Het |
| Cacna1g |
A |
G |
11: 94,356,713 (GRCm39) |
I141T |
probably benign |
Het |
| Ccdc162 |
A |
G |
10: 41,506,033 (GRCm39) |
L919P |
probably damaging |
Het |
| Cd47 |
A |
G |
16: 49,704,575 (GRCm39) |
I116V |
|
Het |
| Cdca2 |
A |
T |
14: 67,935,529 (GRCm39) |
D395E |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,304,389 (GRCm39) |
I2285N |
possibly damaging |
Het |
| Chil5 |
T |
C |
3: 105,925,536 (GRCm39) |
D157G |
probably damaging |
Het |
| Ciita |
A |
T |
16: 10,298,026 (GRCm39) |
I7F |
probably damaging |
Het |
| Dok7 |
G |
T |
5: 35,234,593 (GRCm39) |
G215C |
probably damaging |
Het |
| Eif2s2 |
T |
C |
2: 154,729,659 (GRCm39) |
I88V |
probably null |
Het |
| Fasn |
A |
T |
11: 120,711,362 (GRCm39) |
D217E |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 92,027,400 (GRCm39) |
I1030N |
probably damaging |
Het |
| Fpr-rs6 |
T |
A |
17: 20,402,495 (GRCm39) |
N289Y |
probably damaging |
Het |
| Gm10392 |
C |
T |
11: 77,409,280 (GRCm39) |
V49I |
possibly damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,331,758 (GRCm39) |
M20K |
probably benign |
Het |
| Hoga1 |
A |
G |
19: 42,034,384 (GRCm39) |
M10V |
probably benign |
Het |
| Homer1 |
T |
A |
13: 93,528,239 (GRCm39) |
V258E |
probably damaging |
Het |
| Ifitm2 |
A |
G |
7: 140,535,803 (GRCm39) |
L9S |
probably benign |
Het |
| Iqgap3 |
G |
A |
3: 87,997,144 (GRCm39) |
A176T |
probably benign |
Het |
| Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,812,077 (GRCm39) |
Q830* |
probably null |
Het |
| Macc1 |
T |
C |
12: 119,411,220 (GRCm39) |
W663R |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,372,418 (GRCm39) |
H159L |
probably benign |
Het |
| Mocs1 |
T |
A |
17: 49,757,402 (GRCm39) |
|
probably null |
Het |
| Ncoa1 |
T |
C |
12: 4,372,940 (GRCm39) |
T154A |
possibly damaging |
Het |
| Noxred1 |
A |
C |
12: 87,273,867 (GRCm39) |
L58R |
probably benign |
Het |
| Opcml |
T |
C |
9: 27,702,707 (GRCm39) |
V9A |
probably benign |
Het |
| Or51e2 |
G |
A |
7: 102,392,210 (GRCm39) |
|
probably benign |
Het |
| Or5ac23 |
A |
G |
16: 59,149,051 (GRCm39) |
S274P |
probably damaging |
Het |
| Or8c17 |
G |
A |
9: 38,180,231 (GRCm39) |
V133I |
probably benign |
Het |
| Otog |
A |
T |
7: 45,934,352 (GRCm39) |
R1303S |
probably damaging |
Het |
| Parp11 |
T |
A |
6: 127,468,667 (GRCm39) |
I322N |
probably damaging |
Het |
| Parp11 |
T |
A |
6: 127,447,726 (GRCm39) |
M20K |
possibly damaging |
Het |
| Pde1b |
T |
C |
15: 103,433,548 (GRCm39) |
|
probably benign |
Het |
| Pglyrp4 |
A |
T |
3: 90,647,707 (GRCm39) |
T356S |
possibly damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,628,596 (GRCm39) |
D963G |
probably damaging |
Het |
| Plod3 |
T |
C |
5: 137,017,773 (GRCm39) |
V183A |
probably damaging |
Het |
| Plxnb2 |
C |
T |
15: 89,046,949 (GRCm39) |
V791M |
probably damaging |
Het |
| Poc1b |
T |
A |
10: 98,992,219 (GRCm39) |
|
probably benign |
Het |
| Ppp1r7 |
A |
G |
1: 93,282,150 (GRCm39) |
T234A |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,065,463 (GRCm39) |
T1441I |
probably damaging |
Het |
| Rap1gap2 |
T |
C |
11: 74,296,551 (GRCm39) |
K479E |
probably damaging |
Het |
| Rars2 |
A |
G |
4: 34,623,488 (GRCm39) |
D63G |
probably benign |
Het |
| Rptor |
A |
C |
11: 119,615,858 (GRCm39) |
D124A |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,815,557 (GRCm39) |
R118L |
probably benign |
Het |
| Sap130 |
G |
C |
18: 31,813,517 (GRCm39) |
D525H |
probably damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,767,477 (GRCm39) |
N310D |
probably benign |
Het |
| Slc46a1 |
T |
G |
11: 78,356,777 (GRCm39) |
N58K |
probably benign |
Het |
| Slc4a10 |
T |
A |
2: 62,134,284 (GRCm39) |
I1000N |
probably damaging |
Het |
| Son |
C |
T |
16: 91,454,826 (GRCm39) |
T1191I |
possibly damaging |
Het |
| Sppl2a |
T |
C |
2: 126,768,231 (GRCm39) |
K146E |
probably benign |
Het |
| Srgap3 |
T |
A |
6: 112,743,906 (GRCm39) |
K444I |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,209,447 (GRCm39) |
V59A |
probably benign |
Het |
| Sva |
T |
A |
6: 42,015,443 (GRCm39) |
Y37N |
probably benign |
Het |
| Taar8c |
T |
A |
10: 23,977,705 (GRCm39) |
M36L |
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,968,909 (GRCm39) |
T682I |
probably damaging |
Het |
| Tbx5 |
T |
A |
5: 119,976,790 (GRCm39) |
H59Q |
probably benign |
Het |
| Tdrd1 |
A |
T |
19: 56,843,760 (GRCm39) |
Y746F |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,325,137 (GRCm39) |
S46G |
probably damaging |
Het |
| Tnfaip6 |
T |
A |
2: 51,941,077 (GRCm39) |
V206E |
possibly damaging |
Het |
| Tpbpb |
T |
A |
13: 61,049,193 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,768,025 (GRCm39) |
K3025* |
probably null |
Het |
| Tulp4 |
T |
A |
17: 6,227,168 (GRCm39) |
I106N |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,801,897 (GRCm39) |
F454Y |
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,402,345 (GRCm39) |
N95K |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,801,602 (GRCm39) |
R3539W |
|
Het |
| Vsnl1 |
T |
C |
12: 11,382,180 (GRCm39) |
H67R |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 75,062,692 (GRCm39) |
Y22H |
probably benign |
Het |
| Zeb1 |
A |
G |
18: 5,770,382 (GRCm39) |
|
probably null |
Het |
| Zfp142 |
A |
T |
1: 74,610,825 (GRCm39) |
L990Q |
possibly damaging |
Het |
| Zmiz1 |
G |
A |
14: 25,646,118 (GRCm39) |
G265D |
probably damaging |
Het |
|
| Other mutations in Adamts16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Adamts16
|
APN |
13 |
70,943,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01338:Adamts16
|
APN |
13 |
70,984,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01663:Adamts16
|
APN |
13 |
70,941,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01804:Adamts16
|
APN |
13 |
70,949,080 (GRCm39) |
nonsense |
probably null |
|
|
IGL01874:Adamts16
|
APN |
13 |
70,916,823 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01984:Adamts16
|
APN |
13 |
70,935,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02305:Adamts16
|
APN |
13 |
70,921,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02350:Adamts16
|
APN |
13 |
70,886,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02357:Adamts16
|
APN |
13 |
70,886,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02429:Adamts16
|
APN |
13 |
70,935,289 (GRCm39) |
splice site |
probably benign |
|
|
IGL02450:Adamts16
|
APN |
13 |
70,984,419 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02807:Adamts16
|
APN |
13 |
70,886,897 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03356:Adamts16
|
APN |
13 |
70,901,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
swap
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
switcheroo
|
UTSW |
13 |
70,949,073 (GRCm39) |
missense |
probably benign |
|
|
R0046:Adamts16
|
UTSW |
13 |
70,911,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0046:Adamts16
|
UTSW |
13 |
70,911,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0201:Adamts16
|
UTSW |
13 |
70,927,763 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0326:Adamts16
|
UTSW |
13 |
70,927,730 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0336:Adamts16
|
UTSW |
13 |
70,939,913 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0369:Adamts16
|
UTSW |
13 |
70,927,671 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0422:Adamts16
|
UTSW |
13 |
70,887,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0507:Adamts16
|
UTSW |
13 |
70,916,766 (GRCm39) |
missense |
probably benign |
|
|
R0524:Adamts16
|
UTSW |
13 |
70,949,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0590:Adamts16
|
UTSW |
13 |
70,949,073 (GRCm39) |
missense |
probably benign |
|
|
R0734:Adamts16
|
UTSW |
13 |
70,886,600 (GRCm39) |
splice site |
probably benign |
|
|
R0787:Adamts16
|
UTSW |
13 |
70,886,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Adamts16
|
UTSW |
13 |
70,916,811 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0920:Adamts16
|
UTSW |
13 |
70,911,680 (GRCm39) |
splice site |
probably benign |
|
|
R1027:Adamts16
|
UTSW |
13 |
70,915,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Adamts16
|
UTSW |
13 |
70,984,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1462:Adamts16
|
UTSW |
13 |
70,984,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1535:Adamts16
|
UTSW |
13 |
70,939,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1617:Adamts16
|
UTSW |
13 |
70,946,154 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1700:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1734:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1736:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1737:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1738:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1746:Adamts16
|
UTSW |
13 |
70,927,717 (GRCm39) |
splice site |
probably null |
|
|
R1869:Adamts16
|
UTSW |
13 |
70,883,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Adamts16
|
UTSW |
13 |
70,940,005 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1997:Adamts16
|
UTSW |
13 |
70,901,386 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2018:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R2135:Adamts16
|
UTSW |
13 |
70,949,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R2228:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R3410:Adamts16
|
UTSW |
13 |
70,901,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3411:Adamts16
|
UTSW |
13 |
70,901,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3842:Adamts16
|
UTSW |
13 |
70,887,010 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4117:Adamts16
|
UTSW |
13 |
70,916,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4435:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4436:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4526:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4552:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4555:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4556:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4557:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4579:Adamts16
|
UTSW |
13 |
70,927,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4639:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4640:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4641:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4642:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4672:Adamts16
|
UTSW |
13 |
70,927,637 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5350:Adamts16
|
UTSW |
13 |
70,901,315 (GRCm39) |
nonsense |
probably null |
|
|
R5464:Adamts16
|
UTSW |
13 |
70,909,868 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5613:Adamts16
|
UTSW |
13 |
70,878,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5667:Adamts16
|
UTSW |
13 |
70,984,494 (GRCm39) |
nonsense |
probably null |
|
|
R5735:Adamts16
|
UTSW |
13 |
70,984,337 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5762:Adamts16
|
UTSW |
13 |
70,886,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5907:Adamts16
|
UTSW |
13 |
70,877,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Adamts16
|
UTSW |
13 |
70,918,393 (GRCm39) |
nonsense |
probably null |
|
|
R6351:Adamts16
|
UTSW |
13 |
70,984,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6665:Adamts16
|
UTSW |
13 |
70,927,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Adamts16
|
UTSW |
13 |
70,877,017 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6982:Adamts16
|
UTSW |
13 |
70,916,639 (GRCm39) |
splice site |
probably null |
|
|
R6996:Adamts16
|
UTSW |
13 |
70,946,157 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7313:Adamts16
|
UTSW |
13 |
70,921,074 (GRCm39) |
nonsense |
probably null |
|
|
R7356:Adamts16
|
UTSW |
13 |
70,984,399 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7509:Adamts16
|
UTSW |
13 |
70,935,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Adamts16
|
UTSW |
13 |
70,878,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Adamts16
|
UTSW |
13 |
70,984,265 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7968:Adamts16
|
UTSW |
13 |
70,886,701 (GRCm39) |
missense |
probably benign |
|
|
R8231:Adamts16
|
UTSW |
13 |
70,925,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8232:Adamts16
|
UTSW |
13 |
70,941,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8470:Adamts16
|
UTSW |
13 |
70,984,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8485:Adamts16
|
UTSW |
13 |
70,886,794 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8916:Adamts16
|
UTSW |
13 |
70,941,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Adamts16
|
UTSW |
13 |
70,939,910 (GRCm39) |
splice site |
probably benign |
|
|
R8973:Adamts16
|
UTSW |
13 |
70,886,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9132:Adamts16
|
UTSW |
13 |
70,901,408 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9149:Adamts16
|
UTSW |
13 |
70,883,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Adamts16
|
UTSW |
13 |
70,901,408 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9312:Adamts16
|
UTSW |
13 |
70,949,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9584:Adamts16
|
UTSW |
13 |
70,949,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Adamts16
|
UTSW |
13 |
70,909,892 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCTCTTCTGGTGGAAACATC -3'
(R):5'- TACCACATCAAAGGAGAGCTGC -3'
Sequencing Primer
(F):5'- GAAACATCTGTACAGACTTGGTGCC -3'
(R):5'- AGAGCTGCTCCTTCAGGATTGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation