Incidental Mutation 'R3746:Vwa5b2'
ID |
474569 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa5b2
|
Ensembl Gene |
ENSMUSG00000046613 |
Gene Name |
von Willebrand factor A domain containing 5B2 |
Synonyms |
EG328644 |
MMRRC Submission |
040732-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R3746 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
20408221-20424127 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 20417076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096197]
[ENSMUST00000100074]
[ENSMUST00000149236]
[ENSMUST00000159780]
|
AlphaFold |
Q3UR50 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000046188
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096197
|
SMART Domains |
Protein: ENSMUSP00000093911 Gene: ENSMUSG00000046613
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
7.3e-31 |
PFAM |
VWA
|
352 |
521 |
3.16e-1 |
SMART |
low complexity region
|
684 |
706 |
N/A |
INTRINSIC |
low complexity region
|
725 |
733 |
N/A |
INTRINSIC |
low complexity region
|
744 |
764 |
N/A |
INTRINSIC |
low complexity region
|
780 |
797 |
N/A |
INTRINSIC |
low complexity region
|
823 |
833 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1046 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1145 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000100074
AA Change: Y591C
|
SMART Domains |
Protein: ENSMUSP00000097652 Gene: ENSMUSG00000046613 AA Change: Y591C
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
1.9e-31 |
PFAM |
VWA
|
352 |
521 |
3.16e-1 |
SMART |
low complexity region
|
572 |
586 |
N/A |
INTRINSIC |
low complexity region
|
587 |
602 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149236
|
SMART Domains |
Protein: ENSMUSP00000124117 Gene: ENSMUSG00000046613
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
7.9e-32 |
PFAM |
Blast:VWA
|
352 |
408 |
2e-26 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159780
|
SMART Domains |
Protein: ENSMUSP00000123727 Gene: ENSMUSG00000046613
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
5.5e-31 |
PFAM |
VWA
|
352 |
521 |
3.16e-1 |
SMART |
low complexity region
|
684 |
706 |
N/A |
INTRINSIC |
low complexity region
|
725 |
733 |
N/A |
INTRINSIC |
low complexity region
|
744 |
764 |
N/A |
INTRINSIC |
low complexity region
|
780 |
797 |
N/A |
INTRINSIC |
low complexity region
|
823 |
833 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1046 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1145 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
Abcb5 |
T |
C |
12: 118,838,355 (GRCm39) |
D1069G |
probably damaging |
Het |
Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
Ccdc40 |
T |
C |
11: 119,155,252 (GRCm39) |
V1164A |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,752,537 (GRCm39) |
V345M |
probably damaging |
Het |
Cln6 |
A |
G |
9: 62,754,284 (GRCm39) |
I109V |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,713,162 (GRCm39) |
F1604Y |
probably benign |
Het |
Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
Dip2c |
A |
T |
13: 9,651,509 (GRCm39) |
D674V |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
Eif3g |
G |
A |
9: 20,805,993 (GRCm39) |
R295C |
probably benign |
Het |
Epha5 |
T |
C |
5: 84,206,963 (GRCm39) |
K998E |
probably damaging |
Het |
Fam171b |
A |
T |
2: 83,709,944 (GRCm39) |
T539S |
probably damaging |
Het |
Fer1l4 |
G |
T |
2: 155,876,968 (GRCm39) |
H1159N |
probably benign |
Het |
Fsip1 |
A |
G |
2: 118,063,531 (GRCm39) |
C313R |
probably damaging |
Het |
Gm37240 |
T |
G |
3: 84,426,919 (GRCm39) |
N168T |
probably benign |
Het |
Gm7589 |
T |
C |
9: 59,053,138 (GRCm39) |
|
noncoding transcript |
Het |
Igkv20-101-2 |
A |
T |
6: 68,451,942 (GRCm39) |
I66L |
possibly damaging |
Het |
Irf3 |
T |
C |
7: 44,648,297 (GRCm39) |
F54S |
probably damaging |
Het |
Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
Lrp10 |
A |
T |
14: 54,706,723 (GRCm39) |
N520I |
possibly damaging |
Het |
Map3k21 |
A |
G |
8: 126,661,839 (GRCm39) |
K479E |
probably damaging |
Het |
Mpdz |
A |
C |
4: 81,281,384 (GRCm39) |
V609G |
probably damaging |
Het |
Opcml |
G |
A |
9: 28,812,826 (GRCm39) |
V173M |
possibly damaging |
Het |
Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
Pcdh17 |
A |
T |
14: 84,770,477 (GRCm39) |
Y985F |
probably benign |
Het |
Piezo1 |
G |
T |
8: 123,219,377 (GRCm39) |
F1084L |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,128,524 (GRCm39) |
*4060Q |
probably null |
Het |
Plekhn1 |
T |
C |
4: 156,310,051 (GRCm39) |
T88A |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
Rmdn2 |
T |
A |
17: 79,977,981 (GRCm39) |
|
probably null |
Het |
Selenom |
A |
G |
11: 3,467,132 (GRCm39) |
E137G |
probably benign |
Het |
Slc38a7 |
A |
G |
8: 96,570,380 (GRCm39) |
|
probably benign |
Het |
Slc39a12 |
T |
C |
2: 14,400,878 (GRCm39) |
|
probably benign |
Het |
Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
Supt16 |
A |
G |
14: 52,417,596 (GRCm39) |
L306P |
probably damaging |
Het |
Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
Trim63 |
G |
A |
4: 134,042,665 (GRCm39) |
C44Y |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
Vmn1r4 |
A |
G |
6: 56,934,116 (GRCm39) |
R207G |
probably damaging |
Het |
Vmn2r76 |
A |
G |
7: 85,874,763 (GRCm39) |
V738A |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
|
Other mutations in Vwa5b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01307:Vwa5b2
|
APN |
16 |
20,423,020 (GRCm39) |
missense |
probably benign |
|
IGL01543:Vwa5b2
|
APN |
16 |
20,414,466 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01719:Vwa5b2
|
APN |
16 |
20,416,183 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02006:Vwa5b2
|
APN |
16 |
20,415,843 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02150:Vwa5b2
|
APN |
16 |
20,423,576 (GRCm39) |
missense |
probably benign |
|
IGL02301:Vwa5b2
|
APN |
16 |
20,423,540 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02373:Vwa5b2
|
APN |
16 |
20,423,594 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02413:Vwa5b2
|
APN |
16 |
20,416,851 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02664:Vwa5b2
|
APN |
16 |
20,414,063 (GRCm39) |
unclassified |
probably benign |
|
R1171:Vwa5b2
|
UTSW |
16 |
20,423,734 (GRCm39) |
missense |
probably benign |
|
R1405:Vwa5b2
|
UTSW |
16 |
20,423,066 (GRCm39) |
missense |
probably benign |
0.00 |
R1405:Vwa5b2
|
UTSW |
16 |
20,423,066 (GRCm39) |
missense |
probably benign |
0.00 |
R1464:Vwa5b2
|
UTSW |
16 |
20,415,019 (GRCm39) |
missense |
probably benign |
0.08 |
R1464:Vwa5b2
|
UTSW |
16 |
20,415,019 (GRCm39) |
missense |
probably benign |
0.08 |
R1730:Vwa5b2
|
UTSW |
16 |
20,419,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R1901:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1902:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1903:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1959:Vwa5b2
|
UTSW |
16 |
20,420,941 (GRCm39) |
critical splice donor site |
probably null |
|
R1961:Vwa5b2
|
UTSW |
16 |
20,420,941 (GRCm39) |
critical splice donor site |
probably null |
|
R3522:Vwa5b2
|
UTSW |
16 |
20,420,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R3687:Vwa5b2
|
UTSW |
16 |
20,410,308 (GRCm39) |
unclassified |
probably benign |
|
R3747:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
R3749:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
R3952:Vwa5b2
|
UTSW |
16 |
20,417,111 (GRCm39) |
makesense |
probably null |
|
R4641:Vwa5b2
|
UTSW |
16 |
20,423,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R4646:Vwa5b2
|
UTSW |
16 |
20,415,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R4772:Vwa5b2
|
UTSW |
16 |
20,419,553 (GRCm39) |
splice site |
probably null |
|
R5032:Vwa5b2
|
UTSW |
16 |
20,419,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R5286:Vwa5b2
|
UTSW |
16 |
20,415,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R5569:Vwa5b2
|
UTSW |
16 |
20,414,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R5585:Vwa5b2
|
UTSW |
16 |
20,413,428 (GRCm39) |
nonsense |
probably null |
|
R5640:Vwa5b2
|
UTSW |
16 |
20,416,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R6330:Vwa5b2
|
UTSW |
16 |
20,420,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R6459:Vwa5b2
|
UTSW |
16 |
20,413,429 (GRCm39) |
missense |
probably damaging |
0.98 |
R6992:Vwa5b2
|
UTSW |
16 |
20,416,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Vwa5b2
|
UTSW |
16 |
20,422,984 (GRCm39) |
missense |
probably benign |
0.00 |
R7231:Vwa5b2
|
UTSW |
16 |
20,422,878 (GRCm39) |
missense |
probably benign |
0.00 |
R7591:Vwa5b2
|
UTSW |
16 |
20,420,317 (GRCm39) |
missense |
probably damaging |
0.96 |
R7765:Vwa5b2
|
UTSW |
16 |
20,413,361 (GRCm39) |
missense |
probably benign |
|
R8269:Vwa5b2
|
UTSW |
16 |
20,423,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R8311:Vwa5b2
|
UTSW |
16 |
20,409,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R8707:Vwa5b2
|
UTSW |
16 |
20,412,965 (GRCm39) |
missense |
probably benign |
0.01 |
R8716:Vwa5b2
|
UTSW |
16 |
20,415,026 (GRCm39) |
missense |
probably benign |
0.00 |
R8815:Vwa5b2
|
UTSW |
16 |
20,419,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R8965:Vwa5b2
|
UTSW |
16 |
20,415,076 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9245:Vwa5b2
|
UTSW |
16 |
20,416,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9431:Vwa5b2
|
UTSW |
16 |
20,423,046 (GRCm39) |
missense |
probably benign |
0.00 |
R9536:Vwa5b2
|
UTSW |
16 |
20,414,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R9695:Vwa5b2
|
UTSW |
16 |
20,422,975 (GRCm39) |
missense |
probably benign |
|
R9727:Vwa5b2
|
UTSW |
16 |
20,423,477 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vwa5b2
|
UTSW |
16 |
20,410,003 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Vwa5b2
|
UTSW |
16 |
20,419,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2017-04-14 |