Incidental Mutation 'IGL03119:Vwa5b1'
| ID |
409926 |
| 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 # |
IGL03119
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
138292671-138363195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138333852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 193
(S193P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030533]
[ENSMUST00000105812]
|
| AlphaFold |
A9Z1V5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030533
AA Change: S193P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: S193P
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,764,887 (GRCm39) |
T626A |
probably benign |
Het |
| Adcy1 |
C |
T |
11: 7,059,051 (GRCm39) |
T319I |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,530,492 (GRCm39) |
S5861P |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,581,819 (GRCm39) |
C4742G |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,079,057 (GRCm39) |
D93E |
probably damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,165,892 (GRCm39) |
T121A |
probably benign |
Het |
| Atxn7 |
C |
T |
14: 14,100,734 (GRCm38) |
L807F |
probably damaging |
Het |
| Cep104 |
A |
C |
4: 154,066,181 (GRCm39) |
K126N |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,167,545 (GRCm39) |
E708G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,200,143 (GRCm39) |
Y107C |
probably damaging |
Het |
| E2f3 |
A |
G |
13: 30,169,348 (GRCm39) |
S102P |
probably benign |
Het |
| Eif3e |
A |
C |
15: 43,129,000 (GRCm39) |
S207A |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
| Fyttd1 |
T |
C |
16: 32,721,065 (GRCm39) |
V121A |
probably benign |
Het |
| Gstk1 |
T |
C |
6: 42,226,833 (GRCm39) |
S200P |
probably damaging |
Het |
| Ifrd1 |
A |
T |
12: 40,262,333 (GRCm39) |
F244L |
probably null |
Het |
| Ints7 |
T |
C |
1: 191,342,477 (GRCm39) |
V491A |
probably damaging |
Het |
| Kcnd2 |
G |
T |
6: 21,216,508 (GRCm39) |
E71* |
probably null |
Het |
| Ltbp3 |
A |
T |
19: 5,807,471 (GRCm39) |
Q1123L |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,081,297 (GRCm39) |
T961A |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,573,041 (GRCm39) |
V720E |
probably null |
Het |
| Or52ab4 |
A |
G |
7: 102,987,929 (GRCm39) |
I223V |
probably damaging |
Het |
| Or5b121 |
T |
C |
19: 13,507,799 (GRCm39) |
I298T |
probably benign |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Peli1 |
T |
C |
11: 21,090,560 (GRCm39) |
|
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,695,458 (GRCm39) |
V209A |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,287,825 (GRCm39) |
Y31C |
probably damaging |
Het |
| Smg1 |
G |
A |
7: 117,794,336 (GRCm39) |
|
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,119,386 (GRCm39) |
M457V |
probably benign |
Het |
| Trpm6 |
G |
T |
19: 18,815,381 (GRCm39) |
E1156* |
probably null |
Het |
| Usp53 |
T |
A |
3: 122,755,064 (GRCm39) |
R130S |
possibly damaging |
Het |
| Xrn2 |
A |
G |
2: 146,884,792 (GRCm39) |
I626V |
probably damaging |
Het |
| Zfp574 |
G |
A |
7: 24,779,898 (GRCm39) |
A307T |
probably benign |
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 |
|
IGL03115:Vwa5b1
|
APN |
4 |
138,327,460 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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