Incidental Mutation 'R2061:Vwf'
| ID |
316244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwf
|
| Ensembl Gene |
ENSMUSG00000001930 |
| Gene Name |
Von Willebrand factor |
| Synonyms |
B130011O06Rik, 6820430P06Rik |
| MMRRC Submission |
040066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R2061 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125529911-125663642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125568151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 349
(S349P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100941]
[ENSMUST00000112253]
[ENSMUST00000112254]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001995
AA Change: S346P
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000001995
Gene: ENSMUSG00000001930
AA Change: S346P
| Domain | Start | End | E-Value | Type |
|---|
|
VWD
|
20 |
178 |
3.43e-35 |
SMART |
|
C8
|
218 |
292 |
1.11e-21 |
SMART |
|
Pfam:TIL
|
295 |
348 |
2.9e-14 |
PFAM |
|
VWC
|
350 |
410 |
8.71e-1 |
SMART |
|
VWD
|
377 |
540 |
2.93e-52 |
SMART |
|
C8
|
577 |
649 |
3.82e-25 |
SMART |
|
Pfam:TIL
|
652 |
707 |
5.7e-14 |
PFAM |
|
EGF_like
|
787 |
822 |
4.37e1 |
SMART |
|
VWC
|
829 |
898 |
3.29e-3 |
SMART |
|
VWD
|
856 |
1012 |
5.15e-39 |
SMART |
|
C8
|
1053 |
1127 |
1.01e-33 |
SMART |
|
Pfam:TIL
|
1141 |
1196 |
3.6e-9 |
PFAM |
|
VWA
|
1275 |
1458 |
1.81e-20 |
SMART |
|
low complexity region
|
1461 |
1474 |
N/A |
INTRINSIC |
|
VWA
|
1496 |
1669 |
8.43e-39 |
SMART |
|
VWA
|
1689 |
1872 |
2.83e-31 |
SMART |
|
VWC
|
1879 |
1946 |
2.99e0 |
SMART |
|
VWD
|
1938 |
2101 |
5.03e-42 |
SMART |
|
C8
|
2132 |
2200 |
1.29e-13 |
SMART |
|
Pfam:TIL
|
2203 |
2254 |
1.2e-7 |
PFAM |
|
VWC
|
2257 |
2325 |
3.16e-16 |
SMART |
|
low complexity region
|
2414 |
2425 |
N/A |
INTRINSIC |
|
VWC
|
2431 |
2494 |
2.61e-17 |
SMART |
|
VWC
|
2510 |
2574 |
3.37e0 |
SMART |
|
VWC
|
2582 |
2644 |
2.55e-11 |
SMART |
|
CT
|
2727 |
2812 |
1.37e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100941
AA Change: S364P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098502
Gene: ENSMUSG00000001930
AA Change: S364P
| Domain | Start | End | E-Value | Type |
|---|
|
VWD
|
38 |
196 |
3.43e-35 |
SMART |
|
C8
|
236 |
310 |
1.11e-21 |
SMART |
|
Pfam:TIL
|
313 |
366 |
2.8e-15 |
PFAM |
|
Blast:VWC
|
368 |
404 |
6e-18 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112253
AA Change: S349P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107872
Gene: ENSMUSG00000001930
AA Change: S349P
| Domain | Start | End | E-Value | Type |
|---|
|
VWD
|
23 |
181 |
3.43e-35 |
SMART |
|
C8
|
221 |
295 |
1.11e-21 |
SMART |
|
Pfam:TIL
|
298 |
351 |
2.7e-15 |
PFAM |
|
Blast:VWC
|
353 |
389 |
6e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112254
AA Change: S346P
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107873
Gene: ENSMUSG00000001930
AA Change: S346P
| Domain | Start | End | E-Value | Type |
|---|
|
VWD
|
23 |
181 |
3.43e-35 |
SMART |
|
C8
|
221 |
295 |
1.11e-21 |
SMART |
|
Pfam:TIL
|
298 |
351 |
6.9e-15 |
PFAM |
|
VWC
|
353 |
413 |
8.71e-1 |
SMART |
|
VWD
|
380 |
543 |
2.93e-52 |
SMART |
|
C8
|
580 |
652 |
3.82e-25 |
SMART |
|
Pfam:TIL
|
655 |
710 |
4.1e-14 |
PFAM |
|
EGF_like
|
790 |
825 |
4.37e1 |
SMART |
|
VWC
|
832 |
901 |
3.29e-3 |
SMART |
|
VWD
|
859 |
1015 |
5.15e-39 |
SMART |
|
C8
|
1056 |
1130 |
1.01e-33 |
SMART |
|
Pfam:TIL
|
1144 |
1199 |
1.3e-9 |
PFAM |
|
VWA
|
1278 |
1461 |
1.81e-20 |
SMART |
|
low complexity region
|
1464 |
1477 |
N/A |
INTRINSIC |
|
VWA
|
1499 |
1672 |
8.43e-39 |
SMART |
|
VWA
|
1692 |
1875 |
2.83e-31 |
SMART |
|
VWC
|
1882 |
1949 |
2.99e0 |
SMART |
|
VWD
|
1941 |
2104 |
5.03e-42 |
SMART |
|
C8
|
2135 |
2203 |
1.29e-13 |
SMART |
|
Pfam:TIL
|
2206 |
2257 |
8.3e-8 |
PFAM |
|
VWC
|
2260 |
2328 |
3.16e-16 |
SMART |
|
low complexity region
|
2417 |
2428 |
N/A |
INTRINSIC |
|
VWC
|
2434 |
2497 |
2.61e-17 |
SMART |
|
VWC
|
2513 |
2577 |
3.37e0 |
SMART |
|
VWC
|
2585 |
2647 |
2.55e-11 |
SMART |
|
CT
|
2730 |
2815 |
1.37e-31 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150548
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (124/125) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null mutants exhibit hemostatic and thrombotic defects similar to human von Willebrand disease. Mutants have prolonged bleeding time, newborns occasionally show fatal intra-abdominal bleeding and some adults have detectable fecal occult blood. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(33) : Targeted, knock-out(1) Gene trapped(32)
|
| Other mutations in this stock |
Total: 122 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,502,412 (GRCm39) |
S191P |
probably damaging |
Het |
| Ak2 |
C |
T |
4: 128,901,990 (GRCm39) |
A221V |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,010 (GRCm39) |
V571E |
probably damaging |
Het |
| Amph |
G |
T |
13: 19,309,205 (GRCm39) |
E428* |
probably null |
Het |
| Armh3 |
C |
T |
19: 45,967,106 (GRCm39) |
R12Q |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,993,078 (GRCm39) |
D154V |
probably damaging |
Het |
| Arrdc1 |
G |
A |
2: 24,816,364 (GRCm39) |
Q202* |
probably null |
Het |
| Ate1 |
A |
G |
7: 130,112,643 (GRCm39) |
C72R |
probably damaging |
Het |
| Atox1 |
A |
G |
11: 55,345,724 (GRCm39) |
V22A |
possibly damaging |
Het |
| Bbs12 |
A |
T |
3: 37,373,215 (GRCm39) |
M3L |
probably damaging |
Het |
| Bfsp1 |
A |
G |
2: 143,704,598 (GRCm39) |
V85A |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,159,575 (GRCm39) |
C541* |
probably null |
Het |
| Caskin2 |
C |
A |
11: 115,694,456 (GRCm39) |
V382F |
probably benign |
Het |
| Ccdc39 |
T |
A |
3: 33,874,045 (GRCm39) |
M596L |
probably damaging |
Het |
| Cd22 |
C |
T |
7: 30,569,530 (GRCm39) |
V529M |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,575,581 (GRCm39) |
Y154D |
probably benign |
Het |
| Cdadc1 |
T |
A |
14: 59,818,783 (GRCm39) |
E348D |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,868,631 (GRCm39) |
V531A |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,726,061 (GRCm39) |
|
probably benign |
Het |
| Cebpa |
G |
T |
7: 34,818,947 (GRCm39) |
R35L |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,168,830 (GRCm39) |
N235S |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,524,987 (GRCm39) |
I2725F |
possibly damaging |
Het |
| Cracr2b |
A |
G |
7: 141,045,193 (GRCm39) |
E231G |
probably damaging |
Het |
| Cryaa |
G |
T |
17: 31,900,029 (GRCm39) |
A151S |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,454,628 (GRCm39) |
W225R |
probably damaging |
Het |
| Dab1 |
A |
T |
4: 104,535,938 (GRCm39) |
I116F |
probably damaging |
Het |
| Ddx43 |
C |
A |
9: 78,303,386 (GRCm39) |
N75K |
probably benign |
Het |
| Dmbt1 |
T |
G |
7: 130,700,863 (GRCm39) |
C1014G |
possibly damaging |
Het |
| Dner |
C |
A |
1: 84,383,710 (GRCm39) |
C558F |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,456 (GRCm39) |
V839A |
possibly damaging |
Het |
| Dsg3 |
C |
T |
18: 20,660,794 (GRCm39) |
R378* |
probably null |
Het |
| Ecpas |
G |
T |
4: 58,824,270 (GRCm39) |
P1116T |
probably damaging |
Het |
| Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 59,476,160 (GRCm39) |
M1069V |
probably damaging |
Het |
| F930017D23Rik |
A |
C |
10: 43,480,416 (GRCm39) |
|
noncoding transcript |
Het |
| Faf1 |
A |
T |
4: 109,568,005 (GRCm39) |
N22Y |
probably damaging |
Het |
| Flrt3 |
A |
T |
2: 140,503,373 (GRCm39) |
V85E |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,770,448 (GRCm39) |
I87N |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,819,148 (GRCm39) |
F314S |
probably damaging |
Het |
| Gba2 |
A |
T |
4: 43,574,029 (GRCm39) |
Y141* |
probably null |
Het |
| Gdap1 |
A |
T |
1: 17,215,689 (GRCm39) |
|
probably benign |
Het |
| Gfod1 |
A |
T |
13: 43,456,719 (GRCm39) |
|
probably null |
Het |
| Gm14295 |
C |
T |
2: 176,502,474 (GRCm39) |
R655* |
probably null |
Het |
| Gm4353 |
A |
G |
7: 115,682,934 (GRCm39) |
S216P |
probably damaging |
Het |
| Gm6605 |
T |
A |
7: 38,147,706 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd1 |
A |
T |
12: 51,841,227 (GRCm39) |
D634E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,337 (GRCm39) |
I152T |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,313,600 (GRCm39) |
K1947E |
possibly damaging |
Het |
| Ifrd1 |
A |
T |
12: 40,263,244 (GRCm39) |
F144L |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,145,513 (GRCm39) |
M395V |
probably benign |
Het |
| Itgae |
A |
T |
11: 73,009,448 (GRCm39) |
Q544L |
probably benign |
Het |
| Jmjd1c |
A |
T |
10: 67,054,205 (GRCm39) |
E323D |
probably damaging |
Het |
| Kdm5a |
G |
T |
6: 120,358,578 (GRCm39) |
R207L |
probably benign |
Het |
| Kif5b |
C |
T |
18: 6,226,377 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
C |
2: 158,166,499 (GRCm39) |
V351A |
probably benign |
Het |
| Lss |
A |
T |
10: 76,381,932 (GRCm39) |
|
probably null |
Het |
| Madd |
A |
C |
2: 90,991,831 (GRCm39) |
|
probably benign |
Het |
| Map6 |
G |
A |
7: 98,966,679 (GRCm39) |
V503I |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,660,260 (GRCm39) |
L22P |
probably damaging |
Het |
| Mcfd2 |
T |
C |
17: 87,563,404 (GRCm39) |
N130D |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,305,902 (GRCm39) |
N5S |
probably benign |
Het |
| Mdm4 |
A |
T |
1: 132,940,389 (GRCm39) |
F48I |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,461 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
A |
T |
10: 80,507,391 (GRCm39) |
|
probably null |
Het |
| Mmp15 |
T |
C |
8: 96,097,407 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 4,053,288 (GRCm39) |
K879R |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,524,696 (GRCm39) |
K655E |
probably damaging |
Het |
| Nasp |
T |
C |
4: 116,468,323 (GRCm39) |
N221D |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,821,213 (GRCm39) |
E245G |
probably benign |
Het |
| Nmral1 |
C |
T |
16: 4,534,193 (GRCm39) |
E83K |
probably damaging |
Het |
| Noa1 |
T |
A |
5: 77,452,034 (GRCm39) |
Q550L |
possibly damaging |
Het |
| Nutm1 |
A |
T |
2: 112,086,097 (GRCm39) |
Y211* |
probably null |
Het |
| Or10n1 |
G |
T |
9: 39,525,071 (GRCm39) |
M69I |
probably benign |
Het |
| Or10v1 |
T |
A |
19: 11,873,921 (GRCm39) |
Y179N |
probably damaging |
Het |
| Or2ag18 |
A |
C |
7: 106,404,975 (GRCm39) |
H231Q |
probably benign |
Het |
| Or4l1 |
T |
C |
14: 50,166,478 (GRCm39) |
I174M |
possibly damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,605 (GRCm39) |
I90M |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,730,551 (GRCm39) |
F584L |
probably damaging |
Het |
| Palb2 |
G |
A |
7: 121,723,748 (GRCm39) |
T304I |
possibly damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,552,229 (GRCm39) |
M121L |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,432,236 (GRCm39) |
T1460A |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,041 (GRCm39) |
D731V |
probably damaging |
Het |
| Pex11b |
C |
A |
3: 96,543,037 (GRCm39) |
Q12K |
possibly damaging |
Het |
| Pigw |
G |
C |
11: 84,768,136 (GRCm39) |
Q398E |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,788,888 (GRCm39) |
E882G |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,683,036 (GRCm39) |
N55K |
possibly damaging |
Het |
| Plch2 |
A |
T |
4: 155,127,298 (GRCm39) |
|
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,790,504 (GRCm39) |
L1058Q |
probably benign |
Het |
| Ppfia2 |
T |
C |
10: 106,673,190 (GRCm39) |
S511P |
possibly damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,338,437 (GRCm39) |
L676P |
probably damaging |
Het |
| Ppp6c |
T |
G |
2: 39,116,186 (GRCm39) |
D23A |
probably damaging |
Het |
| Prss30 |
G |
A |
17: 24,193,642 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,049,674 (GRCm39) |
|
probably null |
Het |
| Rec114 |
T |
A |
9: 58,560,188 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,680,764 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,493,349 (GRCm39) |
I3715N |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,130,947 (GRCm39) |
Y322C |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,652 (GRCm39) |
V1698A |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,314,717 (GRCm39) |
S1996L |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,450,525 (GRCm39) |
K174R |
possibly damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,208,027 (GRCm39) |
I179T |
probably benign |
Het |
| Slc35b1 |
T |
G |
11: 95,276,718 (GRCm39) |
F102V |
possibly damaging |
Het |
| Slc66a2 |
G |
T |
18: 80,334,930 (GRCm39) |
A232S |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,245,595 (GRCm39) |
D526G |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,978,519 (GRCm39) |
D495G |
probably damaging |
Het |
| Stk11ip |
G |
A |
1: 75,506,228 (GRCm39) |
E583K |
possibly damaging |
Het |
| Stk-ps1 |
T |
G |
17: 36,709,044 (GRCm39) |
|
noncoding transcript |
Het |
| Sufu |
T |
A |
19: 46,385,651 (GRCm39) |
I37N |
probably damaging |
Het |
| Tacr1 |
C |
T |
6: 82,469,535 (GRCm39) |
P140S |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,795,291 (GRCm39) |
|
probably null |
Het |
| Tex36 |
A |
T |
7: 133,196,952 (GRCm39) |
I55N |
probably damaging |
Het |
| Tmem150c |
T |
C |
5: 100,227,887 (GRCm39) |
Y192C |
probably damaging |
Het |
| Tmem237 |
A |
G |
1: 59,159,445 (GRCm39) |
|
probably benign |
Het |
| Trim11 |
A |
G |
11: 58,872,889 (GRCm39) |
E191G |
probably damaging |
Het |
| Ttll3 |
C |
T |
6: 113,386,003 (GRCm39) |
A612V |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,807,466 (GRCm39) |
A89V |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,507,431 (GRCm39) |
F529L |
probably damaging |
Het |
| Vmn1r217 |
A |
C |
13: 23,298,698 (GRCm39) |
V68G |
probably benign |
Het |
| Wt1 |
G |
A |
2: 104,961,502 (GRCm39) |
|
probably null |
Het |
| Zcchc7 |
T |
A |
4: 44,895,838 (GRCm39) |
L262H |
probably damaging |
Het |
| Zfp873 |
A |
G |
10: 81,895,991 (GRCm39) |
S241G |
probably benign |
Het |
|
| Other mutations in Vwf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Vwf
|
APN |
6 |
125,635,835 (GRCm39) |
missense |
unknown |
|
|
IGL00561:Vwf
|
APN |
6 |
125,619,684 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01104:Vwf
|
APN |
6 |
125,660,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Vwf
|
APN |
6 |
125,654,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01539:Vwf
|
APN |
6 |
125,567,225 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01550:Vwf
|
APN |
6 |
125,656,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01563:Vwf
|
APN |
6 |
125,568,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Vwf
|
APN |
6 |
125,622,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01720:Vwf
|
APN |
6 |
125,619,798 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01834:Vwf
|
APN |
6 |
125,567,133 (GRCm39) |
splice site |
probably benign |
|
|
IGL02103:Vwf
|
APN |
6 |
125,623,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02120:Vwf
|
APN |
6 |
125,592,997 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02174:Vwf
|
APN |
6 |
125,532,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02203:Vwf
|
APN |
6 |
125,619,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Vwf
|
APN |
6 |
125,654,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02723:Vwf
|
APN |
6 |
125,619,893 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02818:Vwf
|
APN |
6 |
125,640,511 (GRCm39) |
missense |
probably benign |
|
|
IGL02931:Vwf
|
APN |
6 |
125,592,931 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03015:Vwf
|
APN |
6 |
125,661,101 (GRCm39) |
splice site |
probably benign |
|
|
IGL03038:Vwf
|
APN |
6 |
125,581,120 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03060:Vwf
|
APN |
6 |
125,640,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03114:Vwf
|
APN |
6 |
125,576,326 (GRCm39) |
nonsense |
probably null |
|
|
IGL03266:Vwf
|
APN |
6 |
125,655,040 (GRCm39) |
splice site |
probably benign |
|
|
gingerman
|
UTSW |
6 |
125,639,926 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0605_vwf_644
|
UTSW |
6 |
125,662,800 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1575_Vwf_091
|
UTSW |
6 |
125,640,534 (GRCm39) |
nonsense |
probably null |
|
|
R1628_Vwf_608
|
UTSW |
6 |
125,624,701 (GRCm39) |
unclassified |
probably benign |
|
|
R1669_Vwf_448
|
UTSW |
6 |
125,624,869 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1833_Vwf_948
|
UTSW |
6 |
125,619,000 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2130_vwf_946
|
UTSW |
6 |
125,634,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360_Vwf_065
|
UTSW |
6 |
125,660,489 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7900_Vwf_938
|
UTSW |
6 |
125,605,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
Russiahouse
|
UTSW |
6 |
125,616,304 (GRCm39) |
nonsense |
probably null |
|
|
B5639:Vwf
|
UTSW |
6 |
125,619,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Vwf
|
UTSW |
6 |
125,659,775 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0025:Vwf
|
UTSW |
6 |
125,659,775 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0087:Vwf
|
UTSW |
6 |
125,622,917 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0194:Vwf
|
UTSW |
6 |
125,620,260 (GRCm39) |
missense |
probably benign |
|
|
R0206:Vwf
|
UTSW |
6 |
125,614,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Vwf
|
UTSW |
6 |
125,663,473 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0233:Vwf
|
UTSW |
6 |
125,663,473 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0390:Vwf
|
UTSW |
6 |
125,603,324 (GRCm39) |
nonsense |
probably null |
|
|
R0427:Vwf
|
UTSW |
6 |
125,650,902 (GRCm39) |
missense |
probably benign |
|
|
R0437:Vwf
|
UTSW |
6 |
125,543,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0470:Vwf
|
UTSW |
6 |
125,605,391 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0499:Vwf
|
UTSW |
6 |
125,615,077 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0554:Vwf
|
UTSW |
6 |
125,619,744 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0605:Vwf
|
UTSW |
6 |
125,662,800 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0711:Vwf
|
UTSW |
6 |
125,603,234 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0723:Vwf
|
UTSW |
6 |
125,543,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0973:Vwf
|
UTSW |
6 |
125,619,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Vwf
|
UTSW |
6 |
125,567,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1115:Vwf
|
UTSW |
6 |
125,632,028 (GRCm39) |
missense |
unknown |
|
|
R1156:Vwf
|
UTSW |
6 |
125,614,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1191:Vwf
|
UTSW |
6 |
125,576,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1240:Vwf
|
UTSW |
6 |
125,580,271 (GRCm39) |
splice site |
probably null |
|
|
R1398:Vwf
|
UTSW |
6 |
125,580,420 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1435:Vwf
|
UTSW |
6 |
125,619,212 (GRCm39) |
nonsense |
probably null |
|
|
R1528:Vwf
|
UTSW |
6 |
125,585,254 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1575:Vwf
|
UTSW |
6 |
125,640,534 (GRCm39) |
nonsense |
probably null |
|
|
R1575:Vwf
|
UTSW |
6 |
125,632,214 (GRCm39) |
missense |
unknown |
|
|
R1628:Vwf
|
UTSW |
6 |
125,624,701 (GRCm39) |
unclassified |
probably benign |
|
|
R1669:Vwf
|
UTSW |
6 |
125,624,869 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1699:Vwf
|
UTSW |
6 |
125,662,863 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1699:Vwf
|
UTSW |
6 |
125,620,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Vwf
|
UTSW |
6 |
125,623,245 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1742:Vwf
|
UTSW |
6 |
125,644,513 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1809:Vwf
|
UTSW |
6 |
125,567,138 (GRCm39) |
splice site |
probably benign |
|
|
R1833:Vwf
|
UTSW |
6 |
125,619,000 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1866:Vwf
|
UTSW |
6 |
125,644,492 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1870:Vwf
|
UTSW |
6 |
125,619,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Vwf
|
UTSW |
6 |
125,605,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1941:Vwf
|
UTSW |
6 |
125,616,242 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2103:Vwf
|
UTSW |
6 |
125,623,293 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2104:Vwf
|
UTSW |
6 |
125,623,293 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2130:Vwf
|
UTSW |
6 |
125,634,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2159:Vwf
|
UTSW |
6 |
125,603,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2178:Vwf
|
UTSW |
6 |
125,619,095 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2656:Vwf
|
UTSW |
6 |
125,532,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2913:Vwf
|
UTSW |
6 |
125,662,809 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2917:Vwf
|
UTSW |
6 |
125,585,106 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3726:Vwf
|
UTSW |
6 |
125,654,911 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3735:Vwf
|
UTSW |
6 |
125,565,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3774:Vwf
|
UTSW |
6 |
125,626,062 (GRCm39) |
splice site |
probably null |
|
|
R3934:Vwf
|
UTSW |
6 |
125,532,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Vwf
|
UTSW |
6 |
125,619,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Vwf
|
UTSW |
6 |
125,632,079 (GRCm39) |
missense |
unknown |
|
|
R4743:Vwf
|
UTSW |
6 |
125,661,054 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4760:Vwf
|
UTSW |
6 |
125,547,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4776:Vwf
|
UTSW |
6 |
125,543,268 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4791:Vwf
|
UTSW |
6 |
125,620,326 (GRCm39) |
missense |
|
|
|
R4871:Vwf
|
UTSW |
6 |
125,663,425 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4894:Vwf
|
UTSW |
6 |
125,622,897 (GRCm39) |
nonsense |
probably null |
|
|
R4963:Vwf
|
UTSW |
6 |
125,644,446 (GRCm39) |
nonsense |
probably null |
|
|
R5010:Vwf
|
UTSW |
6 |
125,543,220 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5289:Vwf
|
UTSW |
6 |
125,644,473 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5512:Vwf
|
UTSW |
6 |
125,650,850 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5523:Vwf
|
UTSW |
6 |
125,620,005 (GRCm39) |
missense |
|
|
|
R5642:Vwf
|
UTSW |
6 |
125,580,381 (GRCm39) |
missense |
|
|
|
R5860:Vwf
|
UTSW |
6 |
125,656,228 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5860:Vwf
|
UTSW |
6 |
125,620,053 (GRCm39) |
missense |
|
|
|
R5896:Vwf
|
UTSW |
6 |
125,655,725 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5926:Vwf
|
UTSW |
6 |
125,581,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Vwf
|
UTSW |
6 |
125,580,426 (GRCm39) |
missense |
|
|
|
R6053:Vwf
|
UTSW |
6 |
125,577,628 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6151:Vwf
|
UTSW |
6 |
125,634,028 (GRCm39) |
missense |
unknown |
|
|
R6179:Vwf
|
UTSW |
6 |
125,626,252 (GRCm39) |
missense |
unknown |
|
|
R6181:Vwf
|
UTSW |
6 |
125,543,109 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6234:Vwf
|
UTSW |
6 |
125,634,128 (GRCm39) |
missense |
unknown |
|
|
R6360:Vwf
|
UTSW |
6 |
125,660,489 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6412:Vwf
|
UTSW |
6 |
125,656,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6464:Vwf
|
UTSW |
6 |
125,616,363 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6522:Vwf
|
UTSW |
6 |
125,639,926 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6766:Vwf
|
UTSW |
6 |
125,616,339 (GRCm39) |
missense |
unknown |
|
|
R6856:Vwf
|
UTSW |
6 |
125,619,113 (GRCm39) |
nonsense |
probably null |
|
|
R6877:Vwf
|
UTSW |
6 |
125,634,164 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6896:Vwf
|
UTSW |
6 |
125,543,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Vwf
|
UTSW |
6 |
125,632,007 (GRCm39) |
missense |
|
|
|
R7287:Vwf
|
UTSW |
6 |
125,614,430 (GRCm39) |
missense |
|
|
|
R7359:Vwf
|
UTSW |
6 |
125,543,220 (GRCm39) |
missense |
|
|
|
R7509:Vwf
|
UTSW |
6 |
125,619,132 (GRCm39) |
missense |
|
|
|
R7519:Vwf
|
UTSW |
6 |
125,644,506 (GRCm39) |
missense |
|
|
|
R7545:Vwf
|
UTSW |
6 |
125,591,060 (GRCm39) |
missense |
|
|
|
R7549:Vwf
|
UTSW |
6 |
125,603,230 (GRCm39) |
missense |
|
|
|
R7593:Vwf
|
UTSW |
6 |
125,624,731 (GRCm39) |
missense |
|
|
|
R7635:Vwf
|
UTSW |
6 |
125,659,697 (GRCm39) |
missense |
|
|
|
R7793:Vwf
|
UTSW |
6 |
125,663,483 (GRCm39) |
missense |
|
|
|
R7802:Vwf
|
UTSW |
6 |
125,643,640 (GRCm39) |
missense |
|
|
|
R7824:Vwf
|
UTSW |
6 |
125,635,778 (GRCm39) |
missense |
|
|
|
R7849:Vwf
|
UTSW |
6 |
125,633,766 (GRCm39) |
missense |
|
|
|
R7900:Vwf
|
UTSW |
6 |
125,605,439 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7919:Vwf
|
UTSW |
6 |
125,624,822 (GRCm39) |
missense |
|
|
|
R7966:Vwf
|
UTSW |
6 |
125,616,304 (GRCm39) |
nonsense |
probably null |
|
|
R8101:Vwf
|
UTSW |
6 |
125,547,522 (GRCm39) |
nonsense |
probably null |
|
|
R8162:Vwf
|
UTSW |
6 |
125,622,799 (GRCm39) |
splice site |
probably null |
|
|
R8345:Vwf
|
UTSW |
6 |
125,656,265 (GRCm39) |
missense |
|
|
|
R8853:Vwf
|
UTSW |
6 |
125,634,227 (GRCm39) |
missense |
|
|
|
R9027:Vwf
|
UTSW |
6 |
125,643,626 (GRCm39) |
missense |
|
|
|
R9065:Vwf
|
UTSW |
6 |
125,623,262 (GRCm39) |
missense |
|
|
|
R9068:Vwf
|
UTSW |
6 |
125,625,792 (GRCm39) |
unclassified |
probably benign |
|
|
R9128:Vwf
|
UTSW |
6 |
125,619,693 (GRCm39) |
missense |
|
|
|
R9136:Vwf
|
UTSW |
6 |
125,576,356 (GRCm39) |
splice site |
probably benign |
|
|
R9164:Vwf
|
UTSW |
6 |
125,542,806 (GRCm39) |
missense |
|
|
|
R9177:Vwf
|
UTSW |
6 |
125,581,254 (GRCm39) |
missense |
|
|
|
R9334:Vwf
|
UTSW |
6 |
125,654,909 (GRCm39) |
missense |
|
|
|
R9508:Vwf
|
UTSW |
6 |
125,532,471 (GRCm39) |
missense |
|
|
|
R9553:Vwf
|
UTSW |
6 |
125,577,662 (GRCm39) |
missense |
|
|
|
R9660:Vwf
|
UTSW |
6 |
125,568,670 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9706:Vwf
|
UTSW |
6 |
125,601,536 (GRCm39) |
missense |
|
|
|
R9708:Vwf
|
UTSW |
6 |
125,634,053 (GRCm39) |
missense |
|
|
|
R9712:Vwf
|
UTSW |
6 |
125,601,536 (GRCm39) |
missense |
|
|
|
R9714:Vwf
|
UTSW |
6 |
125,601,536 (GRCm39) |
missense |
|
|
|
R9728:Vwf
|
UTSW |
6 |
125,568,670 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9758:Vwf
|
UTSW |
6 |
125,603,230 (GRCm39) |
missense |
|
|
|
X0021:Vwf
|
UTSW |
6 |
125,623,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Vwf
|
UTSW |
6 |
125,580,396 (GRCm39) |
missense |
probably null |
0.05 |
|
Z1176:Vwf
|
UTSW |
6 |
125,580,271 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Vwf
|
UTSW |
6 |
125,568,194 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAACGTCACAGTGCATTGCC -3'
(R):5'- CCTCCTGAAGGGGAAGAAAC -3'
Sequencing Primer
(F):5'- CCTTAGAGTTTTCCAGAAGAAGCGC -3'
(R):5'- AGGAAACCTAGGGATCCCC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation