Incidental Mutation 'R6811:Vwa5b1'
| ID |
533796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa5b1
|
| Ensembl Gene |
ENSMUSG00000028753 |
| Gene Name |
von Willebrand factor A domain containing 5B1 |
| Synonyms |
4931403E03Rik |
| MMRRC Submission |
045018-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6811 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
138292671-138363195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 138319414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 414
(T414I)
|
| 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: T414I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: T414I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,401,210 (GRCm39) |
S69P |
probably damaging |
Het |
| Alkbh7 |
G |
T |
17: 57,304,392 (GRCm39) |
R10L |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,711,212 (GRCm39) |
E84G |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,655,968 (GRCm39) |
E1326G |
possibly damaging |
Het |
| Atrnl1 |
T |
G |
19: 57,643,393 (GRCm39) |
M427R |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,739 (GRCm39) |
E1847G |
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,252,125 (GRCm39) |
Y536H |
probably damaging |
Het |
| Dnm3 |
T |
C |
1: 162,148,652 (GRCm39) |
K240E |
probably damaging |
Het |
| Dsc1 |
T |
G |
18: 20,222,711 (GRCm39) |
E587A |
probably benign |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gm19965 |
G |
T |
1: 116,731,809 (GRCm39) |
L38F |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,510,144 (GRCm39) |
|
probably null |
Het |
| Herc2 |
C |
T |
7: 55,763,181 (GRCm39) |
R929* |
probably null |
Het |
| Iqcn |
T |
C |
8: 71,169,422 (GRCm39) |
S1171P |
probably benign |
Het |
| Krt31 |
A |
G |
11: 99,939,242 (GRCm39) |
L225P |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,605,512 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,339,206 (GRCm39) |
V765A |
probably benign |
Het |
| Lsm5 |
A |
G |
6: 56,679,127 (GRCm39) |
I34T |
possibly damaging |
Het |
| Ly6g6c |
T |
C |
17: 35,288,386 (GRCm39) |
L86P |
probably damaging |
Het |
| Meak7 |
A |
T |
8: 120,495,029 (GRCm39) |
I243N |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,451,923 (GRCm39) |
T116A |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,336,618 (GRCm39) |
C190R |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,873,610 (GRCm39) |
V515A |
possibly damaging |
Het |
| Mtbp |
C |
A |
15: 55,469,942 (GRCm39) |
|
probably null |
Het |
| Myo9b |
T |
A |
8: 71,809,222 (GRCm39) |
F1810L |
probably damaging |
Het |
| Nacad |
T |
G |
11: 6,549,400 (GRCm39) |
K180Q |
possibly damaging |
Het |
| Ncf2 |
G |
A |
1: 152,711,791 (GRCm39) |
V502I |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,046,105 (GRCm39) |
C75S |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,886,152 (GRCm39) |
T149A |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,818,422 (GRCm39) |
Q39L |
probably benign |
Het |
| Pdx1 |
T |
C |
5: 147,211,474 (GRCm39) |
S232P |
possibly damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pirb |
A |
T |
7: 3,722,641 (GRCm39) |
V117E |
possibly damaging |
Het |
| Ppl |
G |
A |
16: 4,907,008 (GRCm39) |
L1096F |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,706,917 (GRCm39) |
Y2223* |
probably null |
Het |
| Slc16a4 |
A |
G |
3: 107,206,233 (GRCm39) |
Y101C |
probably benign |
Het |
| Slc17a3 |
A |
T |
13: 24,039,924 (GRCm39) |
I321F |
possibly damaging |
Het |
| Sufu |
T |
A |
19: 46,438,317 (GRCm39) |
D168E |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Vmn1r237 |
T |
G |
17: 21,534,648 (GRCm39) |
S124A |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,844,310 (GRCm39) |
C558S |
probably damaging |
Het |
| Zbtb47 |
T |
C |
9: 121,595,595 (GRCm39) |
S573P |
probably damaging |
Het |
| Zfp971 |
T |
G |
2: 177,675,674 (GRCm39) |
C424W |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGTAGCCTAGGAGAACTG -3'
(R):5'- GCAAGTGGCTGACTCTTCTC -3'
Sequencing Primer
(F):5'- AAGAGGCGTGATTCCGTACC -3'
(R):5'- TTCTCCCCTTGGGTGGACAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation