Incidental Mutation 'IGL02006:Vwa5b2'
| ID |
183179 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vwa5b2
|
| Ensembl Gene |
ENSMUSG00000046613 |
| Gene Name |
von Willebrand factor A domain containing 5B2 |
| Synonyms |
EG328644 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
IGL02006
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
20408221-20424127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20415843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 392
(V392A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096197]
[ENSMUST00000100074]
[ENSMUST00000149236]
[ENSMUST00000159780]
|
| AlphaFold |
Q3UR50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096197
AA Change: V392A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: V392A
| 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 |
probably damaging
Transcript: ENSMUST00000100074
AA Change: V392A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097652
Gene: ENSMUSG00000046613
AA Change: V392A
| 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 |
noncoding transcript
Transcript: ENSMUST00000145483
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149236
AA Change: V392A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124117
Gene: ENSMUSG00000046613
AA Change: V392A
| 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 damaging
Transcript: ENSMUST00000159780
AA Change: V392A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: V392A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,117,582 (GRCm39) |
G182S |
probably damaging |
Het |
| Akr1b7 |
A |
T |
6: 34,392,385 (GRCm39) |
N66I |
probably benign |
Het |
| Arrdc3 |
T |
A |
13: 81,031,893 (GRCm39) |
I42N |
probably damaging |
Het |
| Atp6v0d2 |
G |
T |
4: 19,878,325 (GRCm39) |
A316E |
probably damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,094,497 (GRCm39) |
V847A |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,713,479 (GRCm39) |
N1173D |
possibly damaging |
Het |
| Crb2 |
A |
C |
2: 37,676,475 (GRCm39) |
D152A |
probably damaging |
Het |
| Ecm1 |
T |
C |
3: 95,641,557 (GRCm39) |
E559G |
probably damaging |
Het |
| Ephb1 |
A |
G |
9: 102,071,971 (GRCm39) |
|
probably null |
Het |
| Fndc11 |
C |
A |
2: 180,863,884 (GRCm39) |
R230S |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,911,037 (GRCm39) |
|
probably null |
Het |
| Fyco1 |
G |
A |
9: 123,658,896 (GRCm39) |
Q427* |
probably null |
Het |
| Gm17541 |
A |
G |
12: 4,739,619 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
C |
T |
11: 48,779,330 (GRCm39) |
V809M |
probably damaging |
Het |
| Gm7293 |
A |
G |
9: 51,534,043 (GRCm39) |
|
noncoding transcript |
Het |
| Ift52 |
T |
C |
2: 162,865,289 (GRCm39) |
S47P |
probably benign |
Het |
| Iqcf6 |
A |
G |
9: 106,504,510 (GRCm39) |
D58G |
probably benign |
Het |
| Itm2b |
T |
C |
14: 73,600,488 (GRCm39) |
|
probably benign |
Het |
| Jakmip1 |
T |
C |
5: 37,278,331 (GRCm39) |
I536T |
probably damaging |
Het |
| Kcnh1 |
T |
G |
1: 191,873,323 (GRCm39) |
M3R |
possibly damaging |
Het |
| Kcnh5 |
G |
T |
12: 74,944,322 (GRCm39) |
P976T |
probably damaging |
Het |
| Layn |
G |
A |
9: 50,968,591 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,347,317 (GRCm39) |
Q3126L |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,092 (GRCm39) |
D180V |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,401,954 (GRCm39) |
C3066S |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,311,418 (GRCm39) |
|
probably null |
Het |
| Negr1 |
T |
C |
3: 156,721,810 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,557,226 (GRCm39) |
N940K |
probably benign |
Het |
| Nfkbib |
A |
T |
7: 28,465,667 (GRCm39) |
|
probably null |
Het |
| Nol4 |
T |
A |
18: 23,054,975 (GRCm39) |
T152S |
probably damaging |
Het |
| Oas3 |
G |
T |
5: 120,907,300 (GRCm39) |
R446S |
probably benign |
Het |
| Oosp3 |
C |
T |
19: 11,676,784 (GRCm39) |
L48F |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,449,025 (GRCm39) |
V29A |
probably benign |
Het |
| Or2w25 |
T |
C |
11: 59,503,985 (GRCm39) |
L65P |
probably damaging |
Het |
| Pik3ap1 |
C |
A |
19: 41,291,032 (GRCm39) |
W500L |
probably benign |
Het |
| Ppih |
A |
G |
4: 119,168,779 (GRCm39) |
|
probably benign |
Het |
| Ro60 |
G |
T |
1: 143,636,084 (GRCm39) |
|
probably benign |
Het |
| Slc7a15 |
T |
C |
12: 8,585,508 (GRCm39) |
|
probably null |
Het |
| Srl |
T |
C |
16: 4,315,150 (GRCm39) |
E164G |
probably benign |
Het |
| Tbx10 |
C |
A |
19: 4,048,186 (GRCm39) |
T237K |
probably damaging |
Het |
| Wfdc5 |
A |
T |
2: 164,024,483 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,342,306 (GRCm39) |
F1516L |
possibly damaging |
Het |
| Znfx1 |
A |
G |
2: 166,897,683 (GRCm39) |
C414R |
probably 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 |
|
|
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 |
|
|
R3746:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation