Incidental Mutation 'R2120:Adamts12'
| ID |
231409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts12
|
| Ensembl Gene |
ENSMUSG00000047497 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 12 |
| Synonyms |
|
| MMRRC Submission |
040124-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R2120 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
11064876-11349317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 11310665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 974
(T974I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061318]
|
| AlphaFold |
Q811B3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061318
AA Change: T974I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057796
Gene: ENSMUSG00000047497
AA Change: T974I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
53 |
197 |
5.5e-30 |
PFAM |
|
low complexity region
|
236 |
245 |
N/A |
INTRINSIC |
|
Pfam:Reprolysin_5
|
248 |
438 |
1.6e-14 |
PFAM |
|
Pfam:Reprolysin_4
|
248 |
453 |
6.7e-8 |
PFAM |
|
Pfam:Reprolysin
|
250 |
460 |
1.2e-27 |
PFAM |
|
Pfam:Reprolysin_2
|
268 |
450 |
5.5e-11 |
PFAM |
|
Pfam:Reprolysin_3
|
272 |
407 |
3.5e-10 |
PFAM |
|
TSP1
|
549 |
601 |
9.29e-14 |
SMART |
|
Pfam:ADAM_spacer1
|
706 |
817 |
4.8e-36 |
PFAM |
|
TSP1
|
831 |
887 |
4.66e-5 |
SMART |
|
TSP1
|
890 |
949 |
2.54e-1 |
SMART |
|
TSP1
|
951 |
1001 |
8.95e-7 |
SMART |
|
low complexity region
|
1032 |
1047 |
N/A |
INTRINSIC |
|
low complexity region
|
1130 |
1141 |
N/A |
INTRINSIC |
|
TSP1
|
1321 |
1371 |
2.22e-2 |
SMART |
|
TSP1
|
1372 |
1431 |
9.97e-2 |
SMART |
|
TSP1
|
1432 |
1479 |
1.19e-2 |
SMART |
|
TSP1
|
1480 |
1538 |
2.63e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.1003 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (86/86) |
| 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. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Mice lacking the encoded protein exhibit increased angiogenic response and tumor invasion in different models of angiogenesis and, severe inflammation and delayed recovery when subjected to experimental conditions that induce colitis, endotoxic sepsis and pancreatitis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased tumor vascularization, tumor invasion, and angiogenesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1)
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,259,013 (GRCm39) |
|
probably benign |
Het |
| Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
| Actrt2 |
C |
T |
4: 154,751,551 (GRCm39) |
R195Q |
probably benign |
Het |
| Ankrd65 |
A |
G |
4: 155,876,530 (GRCm39) |
T239A |
probably benign |
Het |
| Ano7 |
G |
T |
1: 93,329,855 (GRCm39) |
|
probably benign |
Het |
| Apc |
A |
T |
18: 34,409,654 (GRCm39) |
E198V |
probably damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,495,457 (GRCm39) |
V583E |
probably damaging |
Het |
| Bicral |
C |
T |
17: 47,135,741 (GRCm39) |
A490T |
probably benign |
Het |
| C1rl |
C |
T |
6: 124,485,672 (GRCm39) |
P348S |
probably damaging |
Het |
| Cog1 |
T |
C |
11: 113,540,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Cx3cr1 |
T |
A |
9: 119,880,749 (GRCm39) |
T218S |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| E2f4 |
A |
G |
8: 106,026,973 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,949 (GRCm39) |
N179D |
probably benign |
Het |
| Epc2 |
C |
T |
2: 49,437,621 (GRCm39) |
|
probably benign |
Het |
| Ets2 |
G |
T |
16: 95,519,977 (GRCm39) |
R401L |
probably benign |
Het |
| Fgd4 |
C |
T |
16: 16,243,692 (GRCm39) |
C614Y |
probably benign |
Het |
| Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,086 (GRCm39) |
T1460S |
probably benign |
Het |
| H2-M1 |
T |
G |
17: 36,980,929 (GRCm39) |
T336P |
possibly damaging |
Het |
| Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
| Ipo7 |
G |
T |
7: 109,648,838 (GRCm39) |
D704Y |
probably damaging |
Het |
| Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
| Jarid2 |
G |
T |
13: 45,059,812 (GRCm39) |
M681I |
probably benign |
Het |
| Kif4-ps |
T |
C |
12: 101,113,956 (GRCm39) |
L695P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,410 (GRCm39) |
|
probably benign |
Het |
| Krt25 |
T |
C |
11: 99,212,023 (GRCm39) |
T205A |
probably benign |
Het |
| Lif |
T |
C |
11: 4,219,051 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Ltbr |
A |
G |
6: 125,286,440 (GRCm39) |
S249P |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,819,653 (GRCm39) |
|
probably benign |
Het |
| Med16 |
A |
T |
10: 79,738,916 (GRCm39) |
M290K |
possibly damaging |
Het |
| Mov10l1 |
C |
A |
15: 88,891,830 (GRCm39) |
Q562K |
probably benign |
Het |
| Msantd2 |
C |
T |
9: 37,434,227 (GRCm39) |
R357W |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,534,108 (GRCm39) |
F449L |
probably damaging |
Het |
| Myt1l |
A |
T |
12: 29,833,618 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,403 (GRCm39) |
I178T |
probably damaging |
Het |
| Or4k36 |
A |
G |
2: 111,145,844 (GRCm39) |
T7A |
probably benign |
Het |
| Or6d13 |
A |
T |
6: 116,517,416 (GRCm39) |
M1L |
probably null |
Het |
| Or8k22 |
G |
A |
2: 86,163,689 (GRCm39) |
R4C |
probably benign |
Het |
| Patj |
T |
A |
4: 98,344,462 (GRCm39) |
D591E |
probably benign |
Het |
| Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
| Pitpnm2 |
G |
A |
5: 124,265,332 (GRCm39) |
P757L |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,603,584 (GRCm39) |
T662A |
probably benign |
Het |
| Podn |
C |
T |
4: 107,880,558 (GRCm39) |
A31T |
probably damaging |
Het |
| Prss37 |
G |
A |
6: 40,492,294 (GRCm39) |
R186* |
probably null |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
| Rab3gap2 |
A |
T |
1: 184,993,564 (GRCm39) |
D782V |
possibly damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
| Reln |
G |
A |
5: 22,174,083 (GRCm39) |
H2007Y |
probably damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,718,712 (GRCm39) |
I222K |
probably damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,865,582 (GRCm39) |
S582P |
probably damaging |
Het |
| Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
| Sars1 |
T |
C |
3: 108,341,472 (GRCm39) |
I114V |
probably benign |
Het |
| Scamp5 |
C |
A |
9: 57,354,508 (GRCm39) |
V49F |
possibly damaging |
Het |
| Sec14l1 |
C |
T |
11: 117,039,358 (GRCm39) |
|
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,533,617 (GRCm39) |
E224G |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Slco6c1 |
C |
T |
1: 96,993,808 (GRCm39) |
R645H |
possibly damaging |
Het |
| Srgn |
T |
A |
10: 62,343,413 (GRCm39) |
|
probably benign |
Het |
| Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tada3 |
T |
C |
6: 113,347,976 (GRCm39) |
I263V |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,470 (GRCm39) |
R160S |
possibly damaging |
Het |
| Trak1 |
T |
A |
9: 121,302,063 (GRCm39) |
*940R |
probably null |
Het |
| Trp53bp2 |
A |
G |
1: 182,269,204 (GRCm39) |
M223V |
probably benign |
Het |
| Ttc21b |
C |
T |
2: 66,057,098 (GRCm39) |
V625I |
probably benign |
Het |
| Txnrd1 |
T |
A |
10: 82,723,067 (GRCm39) |
C421S |
possibly damaging |
Het |
| Unc45a |
T |
C |
7: 79,989,846 (GRCm39) |
T8A |
probably benign |
Het |
| Usp6nl |
T |
A |
2: 6,445,748 (GRCm39) |
V552E |
probably damaging |
Het |
| Vmn2r115 |
T |
G |
17: 23,578,297 (GRCm39) |
L590R |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,665 (GRCm39) |
H126L |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,826,616 (GRCm39) |
D1419G |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,391,641 (GRCm39) |
T776A |
probably benign |
Het |
| Zfp580 |
T |
C |
7: 5,056,008 (GRCm39) |
Y123H |
probably damaging |
Het |
|
| Other mutations in Adamts12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Adamts12
|
APN |
15 |
11,311,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00513:Adamts12
|
APN |
15 |
11,257,047 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL00579:Adamts12
|
APN |
15 |
11,152,100 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL00984:Adamts12
|
APN |
15 |
11,215,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01307:Adamts12
|
APN |
15 |
11,237,632 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01314:Adamts12
|
APN |
15 |
11,071,939 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01353:Adamts12
|
APN |
15 |
11,292,091 (GRCm39) |
splice site |
probably benign |
|
|
IGL01373:Adamts12
|
APN |
15 |
11,310,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01522:Adamts12
|
APN |
15 |
11,065,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01589:Adamts12
|
APN |
15 |
11,311,323 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01715:Adamts12
|
APN |
15 |
11,258,182 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01966:Adamts12
|
APN |
15 |
11,258,269 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01994:Adamts12
|
APN |
15 |
11,345,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Adamts12
|
APN |
15 |
11,215,696 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02216:Adamts12
|
APN |
15 |
11,241,571 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02252:Adamts12
|
APN |
15 |
11,311,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02336:Adamts12
|
APN |
15 |
11,311,331 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02445:Adamts12
|
APN |
15 |
11,286,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03115:Adamts12
|
APN |
15 |
11,263,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03131:Adamts12
|
APN |
15 |
11,345,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03161:Adamts12
|
APN |
15 |
11,292,168 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03403:Adamts12
|
APN |
15 |
11,241,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I2289:Adamts12
|
UTSW |
15 |
11,071,894 (GRCm39) |
missense |
probably benign |
0.13 |
|
PIT4677001:Adamts12
|
UTSW |
15 |
11,286,896 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0016:Adamts12
|
UTSW |
15 |
11,217,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Adamts12
|
UTSW |
15 |
11,217,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Adamts12
|
UTSW |
15 |
11,285,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0027:Adamts12
|
UTSW |
15 |
11,285,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0028:Adamts12
|
UTSW |
15 |
11,215,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0108:Adamts12
|
UTSW |
15 |
11,311,184 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0108:Adamts12
|
UTSW |
15 |
11,311,184 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0122:Adamts12
|
UTSW |
15 |
11,215,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0196:Adamts12
|
UTSW |
15 |
11,071,594 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0308:Adamts12
|
UTSW |
15 |
11,311,646 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0335:Adamts12
|
UTSW |
15 |
11,311,144 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0667:Adamts12
|
UTSW |
15 |
11,215,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Adamts12
|
UTSW |
15 |
11,255,769 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1162:Adamts12
|
UTSW |
15 |
11,277,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1173:Adamts12
|
UTSW |
15 |
11,071,843 (GRCm39) |
missense |
probably benign |
|
|
R1174:Adamts12
|
UTSW |
15 |
11,071,843 (GRCm39) |
missense |
probably benign |
|
|
R1319:Adamts12
|
UTSW |
15 |
11,286,877 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1344:Adamts12
|
UTSW |
15 |
11,286,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1367:Adamts12
|
UTSW |
15 |
11,256,980 (GRCm39) |
splice site |
probably benign |
|
|
R1396:Adamts12
|
UTSW |
15 |
11,311,558 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1418:Adamts12
|
UTSW |
15 |
11,286,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Adamts12
|
UTSW |
15 |
11,263,447 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1466:Adamts12
|
UTSW |
15 |
11,311,445 (GRCm39) |
missense |
probably benign |
|
|
R1466:Adamts12
|
UTSW |
15 |
11,311,445 (GRCm39) |
missense |
probably benign |
|
|
R1599:Adamts12
|
UTSW |
15 |
11,071,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1700:Adamts12
|
UTSW |
15 |
11,152,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1748:Adamts12
|
UTSW |
15 |
11,241,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1826:Adamts12
|
UTSW |
15 |
11,071,606 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1870:Adamts12
|
UTSW |
15 |
11,311,240 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1871:Adamts12
|
UTSW |
15 |
11,311,240 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1872:Adamts12
|
UTSW |
15 |
11,217,966 (GRCm39) |
nonsense |
probably null |
|
|
R1931:Adamts12
|
UTSW |
15 |
11,270,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2041:Adamts12
|
UTSW |
15 |
11,215,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2119:Adamts12
|
UTSW |
15 |
11,310,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2122:Adamts12
|
UTSW |
15 |
11,310,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2161:Adamts12
|
UTSW |
15 |
11,215,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2655:Adamts12
|
UTSW |
15 |
11,065,174 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4010:Adamts12
|
UTSW |
15 |
11,286,169 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4208:Adamts12
|
UTSW |
15 |
11,071,840 (GRCm39) |
missense |
probably benign |
|
|
R4666:Adamts12
|
UTSW |
15 |
11,311,578 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4731:Adamts12
|
UTSW |
15 |
11,270,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Adamts12
|
UTSW |
15 |
11,270,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Adamts12
|
UTSW |
15 |
11,270,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Adamts12
|
UTSW |
15 |
11,285,987 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4877:Adamts12
|
UTSW |
15 |
11,327,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4929:Adamts12
|
UTSW |
15 |
11,259,108 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5060:Adamts12
|
UTSW |
15 |
11,300,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5145:Adamts12
|
UTSW |
15 |
11,285,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Adamts12
|
UTSW |
15 |
11,327,843 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5492:Adamts12
|
UTSW |
15 |
11,336,384 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5580:Adamts12
|
UTSW |
15 |
11,152,086 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5645:Adamts12
|
UTSW |
15 |
11,277,506 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5724:Adamts12
|
UTSW |
15 |
11,286,836 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6240:Adamts12
|
UTSW |
15 |
11,286,044 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6331:Adamts12
|
UTSW |
15 |
11,241,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Adamts12
|
UTSW |
15 |
11,257,080 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6393:Adamts12
|
UTSW |
15 |
11,255,721 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6419:Adamts12
|
UTSW |
15 |
11,215,759 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6571:Adamts12
|
UTSW |
15 |
11,065,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6821:Adamts12
|
UTSW |
15 |
11,152,134 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6913:Adamts12
|
UTSW |
15 |
11,215,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6973:Adamts12
|
UTSW |
15 |
11,331,866 (GRCm39) |
nonsense |
probably null |
|
|
R7188:Adamts12
|
UTSW |
15 |
11,336,411 (GRCm39) |
nonsense |
probably null |
|
|
R7290:Adamts12
|
UTSW |
15 |
11,277,452 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7307:Adamts12
|
UTSW |
15 |
11,217,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7376:Adamts12
|
UTSW |
15 |
11,277,425 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7419:Adamts12
|
UTSW |
15 |
11,317,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7484:Adamts12
|
UTSW |
15 |
11,345,734 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7562:Adamts12
|
UTSW |
15 |
11,270,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7653:Adamts12
|
UTSW |
15 |
11,257,115 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7696:Adamts12
|
UTSW |
15 |
11,258,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7957:Adamts12
|
UTSW |
15 |
11,317,298 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7980:Adamts12
|
UTSW |
15 |
11,263,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7992:Adamts12
|
UTSW |
15 |
11,310,904 (GRCm39) |
missense |
probably benign |
|
|
R8032:Adamts12
|
UTSW |
15 |
11,259,189 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8109:Adamts12
|
UTSW |
15 |
11,331,877 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8402:Adamts12
|
UTSW |
15 |
11,263,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8751:Adamts12
|
UTSW |
15 |
11,215,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Adamts12
|
UTSW |
15 |
11,237,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8934:Adamts12
|
UTSW |
15 |
11,300,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8952:Adamts12
|
UTSW |
15 |
11,286,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Adamts12
|
UTSW |
15 |
11,317,443 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9042:Adamts12
|
UTSW |
15 |
11,152,134 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9162:Adamts12
|
UTSW |
15 |
11,311,721 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9190:Adamts12
|
UTSW |
15 |
11,336,446 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9700:Adamts12
|
UTSW |
15 |
11,311,442 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9748:Adamts12
|
UTSW |
15 |
11,310,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
V1662:Adamts12
|
UTSW |
15 |
11,071,894 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0022:Adamts12
|
UTSW |
15 |
11,277,534 (GRCm39) |
missense |
probably benign |
0.30 |
|
Z1176:Adamts12
|
UTSW |
15 |
11,336,469 (GRCm39) |
missense |
not run |
|
|
Z1177:Adamts12
|
UTSW |
15 |
11,336,469 (GRCm39) |
missense |
not run |
|
|
Z1177:Adamts12
|
UTSW |
15 |
11,317,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTCGGTTTGACTGTATC -3'
(R):5'- GTGCTCATAGACTCAGGCAC -3'
Sequencing Primer
(F):5'- CAGATTGGTTCTGGGCCC -3'
(R):5'- CACTGTGGGTGTGGACAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation