Incidental Mutation 'IGL03115:Vwa5b1'
| ID |
419387 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vwa5b1
|
| Ensembl Gene |
ENSMUSG00000028753 |
| Gene Name |
von Willebrand factor A domain containing 5B1 |
| Synonyms |
4931403E03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
138292671-138363195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 138327460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 372
(I372N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030533]
[ENSMUST00000105812]
|
| AlphaFold |
A9Z1V5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030533
AA Change: I372N
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: I372N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
2 |
79 |
2e-28 |
PFAM |
|
Pfam:VIT
|
15 |
138 |
1.5e-7 |
PFAM |
|
VWA
|
351 |
513 |
6.04e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105812
|
| SMART Domains |
Protein: ENSMUSP00000101438
Gene: ENSMUSG00000028753
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
16 |
93 |
1.9e-30 |
PFAM |
|
Pfam:VIT
|
29 |
103 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154312
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
A |
14: 68,808,802 (GRCm39) |
H302L |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,263,422 (GRCm39) |
C595S |
probably damaging |
Het |
| Arid2 |
G |
A |
15: 96,268,154 (GRCm39) |
V756I |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,813,336 (GRCm39) |
W26R |
possibly damaging |
Het |
| Brinp1 |
C |
T |
4: 68,822,973 (GRCm39) |
|
probably null |
Het |
| Cers2 |
A |
G |
3: 95,228,663 (GRCm39) |
D162G |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,429,053 (GRCm39) |
E106* |
probably null |
Het |
| Col12a1 |
T |
C |
9: 79,588,719 (GRCm39) |
E1132G |
probably damaging |
Het |
| Dhdds |
G |
T |
4: 133,710,182 (GRCm39) |
H196N |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,504,379 (GRCm39) |
D118G |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,505,220 (GRCm39) |
S7P |
probably damaging |
Het |
| Gamt |
A |
G |
10: 80,094,272 (GRCm39) |
L197P |
probably damaging |
Het |
| Grb7 |
A |
G |
11: 98,341,945 (GRCm39) |
I82V |
probably damaging |
Het |
| Hectd2 |
T |
C |
19: 36,577,121 (GRCm39) |
|
probably null |
Het |
| Ilk |
T |
C |
7: 105,389,542 (GRCm39) |
V83A |
probably damaging |
Het |
| Kif21a |
T |
A |
15: 90,869,598 (GRCm39) |
I418F |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,501,425 (GRCm39) |
I905V |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Morc3 |
T |
C |
16: 93,667,971 (GRCm39) |
I710T |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,357,728 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,862,040 (GRCm39) |
E9G |
probably damaging |
Het |
| Or2f2 |
A |
G |
6: 42,767,599 (GRCm39) |
T209A |
probably benign |
Het |
| Or8g23 |
C |
A |
9: 38,971,259 (GRCm39) |
R234S |
probably damaging |
Het |
| Pard6g |
T |
G |
18: 80,123,068 (GRCm39) |
L34W |
probably damaging |
Het |
| Patj |
C |
T |
4: 98,332,040 (GRCm39) |
S562L |
probably damaging |
Het |
| Pcsk4 |
A |
G |
10: 80,164,883 (GRCm39) |
I61T |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,825,670 (GRCm39) |
H300Q |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,470,033 (GRCm39) |
D288G |
probably damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,046,641 (GRCm39) |
|
probably benign |
Het |
| Poldip2 |
T |
C |
11: 78,411,970 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,266,734 (GRCm39) |
Y614C |
probably damaging |
Het |
| Rarres1 |
C |
A |
3: 67,403,145 (GRCm39) |
|
probably null |
Het |
| Samd3 |
C |
T |
10: 26,147,606 (GRCm39) |
T427M |
probably damaging |
Het |
| Skap1 |
A |
G |
11: 96,593,446 (GRCm39) |
I98V |
probably benign |
Het |
| Skint11 |
T |
C |
4: 114,101,820 (GRCm39) |
S87P |
probably damaging |
Het |
| Slc22a22 |
T |
G |
15: 57,126,670 (GRCm39) |
E133A |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,933,185 (GRCm39) |
Y91C |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,426,403 (GRCm39) |
E494V |
possibly damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,765,329 (GRCm39) |
D304E |
probably benign |
Het |
| Slco1a4 |
A |
C |
6: 141,763,585 (GRCm39) |
M377R |
probably damaging |
Het |
| Srpk2 |
T |
C |
5: 23,729,616 (GRCm39) |
|
probably null |
Het |
| Supt3 |
T |
G |
17: 45,352,114 (GRCm39) |
C271W |
probably damaging |
Het |
| Taar7d |
C |
A |
10: 23,903,539 (GRCm39) |
F140L |
probably benign |
Het |
| Tmbim7 |
T |
C |
5: 3,729,158 (GRCm39) |
*225Q |
probably null |
Het |
| Tpst1 |
T |
C |
5: 130,130,752 (GRCm39) |
I74T |
probably damaging |
Het |
| Utp3 |
T |
C |
5: 88,703,179 (GRCm39) |
V236A |
possibly damaging |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,558 (GRCm39) |
F282I |
probably damaging |
Het |
| Wtip |
C |
T |
7: 33,824,958 (GRCm39) |
A209T |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 74,985,867 (GRCm39) |
D395G |
probably benign |
Het |
| Zfp273 |
A |
T |
13: 67,973,769 (GRCm39) |
H299L |
probably damaging |
Het |
| Zfp459 |
G |
A |
13: 67,556,796 (GRCm39) |
R96* |
probably null |
Het |
|
| Other mutations in Vwa5b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01952:Vwa5b1
|
APN |
4 |
138,308,528 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02133:Vwa5b1
|
APN |
4 |
138,313,868 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02379:Vwa5b1
|
APN |
4 |
138,340,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02671:Vwa5b1
|
APN |
4 |
138,296,437 (GRCm39) |
nonsense |
probably null |
|
|
IGL02864:Vwa5b1
|
APN |
4 |
138,336,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03076:Vwa5b1
|
APN |
4 |
138,327,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03119:Vwa5b1
|
APN |
4 |
138,333,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4283001:Vwa5b1
|
UTSW |
4 |
138,327,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Vwa5b1
|
UTSW |
4 |
138,336,169 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Vwa5b1
|
UTSW |
4 |
138,332,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0528:Vwa5b1
|
UTSW |
4 |
138,321,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Vwa5b1
|
UTSW |
4 |
138,363,022 (GRCm39) |
splice site |
probably benign |
|
|
R0718:Vwa5b1
|
UTSW |
4 |
138,336,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1555:Vwa5b1
|
UTSW |
4 |
138,332,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1573:Vwa5b1
|
UTSW |
4 |
138,332,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Vwa5b1
|
UTSW |
4 |
138,296,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Vwa5b1
|
UTSW |
4 |
138,302,700 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1906:Vwa5b1
|
UTSW |
4 |
138,327,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1913:Vwa5b1
|
UTSW |
4 |
138,319,331 (GRCm39) |
nonsense |
probably null |
|
|
R2121:Vwa5b1
|
UTSW |
4 |
138,315,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2213:Vwa5b1
|
UTSW |
4 |
138,332,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2355:Vwa5b1
|
UTSW |
4 |
138,319,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2655:Vwa5b1
|
UTSW |
4 |
138,321,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4134:Vwa5b1
|
UTSW |
4 |
138,321,641 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4135:Vwa5b1
|
UTSW |
4 |
138,321,641 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4635:Vwa5b1
|
UTSW |
4 |
138,338,150 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4773:Vwa5b1
|
UTSW |
4 |
138,309,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4832:Vwa5b1
|
UTSW |
4 |
138,332,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Vwa5b1
|
UTSW |
4 |
138,338,058 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4916:Vwa5b1
|
UTSW |
4 |
138,321,573 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4995:Vwa5b1
|
UTSW |
4 |
138,336,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Vwa5b1
|
UTSW |
4 |
138,336,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Vwa5b1
|
UTSW |
4 |
138,305,962 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6255:Vwa5b1
|
UTSW |
4 |
138,305,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6811:Vwa5b1
|
UTSW |
4 |
138,319,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6901:Vwa5b1
|
UTSW |
4 |
138,313,880 (GRCm39) |
missense |
probably benign |
|
|
R7144:Vwa5b1
|
UTSW |
4 |
138,332,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7146:Vwa5b1
|
UTSW |
4 |
138,308,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7159:Vwa5b1
|
UTSW |
4 |
138,302,733 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7362:Vwa5b1
|
UTSW |
4 |
138,321,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Vwa5b1
|
UTSW |
4 |
138,318,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7908:Vwa5b1
|
UTSW |
4 |
138,296,481 (GRCm39) |
nonsense |
probably null |
|
|
R7965:Vwa5b1
|
UTSW |
4 |
138,332,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Vwa5b1
|
UTSW |
4 |
138,308,530 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8866:Vwa5b1
|
UTSW |
4 |
138,327,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Vwa5b1
|
UTSW |
4 |
138,305,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Vwa5b1
|
UTSW |
4 |
138,338,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9045:Vwa5b1
|
UTSW |
4 |
138,315,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Vwa5b1
|
UTSW |
4 |
138,296,742 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9273:Vwa5b1
|
UTSW |
4 |
138,316,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Vwa5b1
|
UTSW |
4 |
138,318,229 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9450:Vwa5b1
|
UTSW |
4 |
138,315,940 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9646:Vwa5b1
|
UTSW |
4 |
138,319,420 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Vwa5b1
|
UTSW |
4 |
138,340,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation