Incidental Mutation 'R7965:Vwa5b1'
| ID |
650313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa5b1
|
| Ensembl Gene |
ENSMUSG00000028753 |
| Gene Name |
von Willebrand factor A domain containing 5B1 |
| Synonyms |
4931403E03Rik |
| MMRRC Submission |
046008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
138292671-138363195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 138332800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 254
(T254M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030533]
[ENSMUST00000105812]
|
| AlphaFold |
A9Z1V5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030533
AA Change: T254M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: T254M
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
A |
G |
18: 36,791,465 (GRCm39) |
T154A |
|
Het |
| Arhgap21 |
A |
G |
2: 20,854,007 (GRCm39) |
I1795T |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,850,762 (GRCm39) |
V436A |
probably benign |
Het |
| Bche |
A |
T |
3: 73,609,149 (GRCm39) |
N92K |
probably damaging |
Het |
| Bmp2 |
C |
T |
2: 133,403,105 (GRCm39) |
H219Y |
probably benign |
Het |
| Cables1 |
T |
G |
18: 11,973,269 (GRCm39) |
V136G |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,769,270 (GRCm39) |
R1887* |
probably null |
Het |
| Chrd |
A |
G |
16: 20,557,903 (GRCm39) |
E774G |
probably benign |
Het |
| Chrna2 |
A |
G |
14: 66,388,525 (GRCm39) |
*513W |
probably null |
Het |
| Cracr2b |
T |
C |
7: 141,044,161 (GRCm39) |
F131S |
probably damaging |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,546,523 (GRCm39) |
I545N |
possibly damaging |
Het |
| Enpp3 |
T |
A |
10: 24,654,717 (GRCm39) |
T654S |
possibly damaging |
Het |
| Glce |
A |
G |
9: 61,968,228 (GRCm39) |
S308P |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hmmr |
A |
C |
11: 40,606,256 (GRCm39) |
|
probably null |
Het |
| Hoxb9 |
A |
G |
11: 96,165,464 (GRCm39) |
N178D |
probably benign |
Het |
| Igkv10-94 |
A |
T |
6: 68,681,595 (GRCm39) |
F82I |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,702,578 (GRCm39) |
K99* |
probably null |
Het |
| Il4i1 |
A |
G |
7: 44,489,819 (GRCm39) |
Q528R |
probably benign |
Het |
| Inhba |
G |
T |
13: 16,201,572 (GRCm39) |
G378V |
possibly damaging |
Het |
| Katna1 |
T |
C |
10: 7,614,623 (GRCm39) |
S44P |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Mgat4d |
T |
C |
8: 84,084,722 (GRCm39) |
V155A |
possibly damaging |
Het |
| Morc2b |
C |
T |
17: 33,354,746 (GRCm39) |
E1009K |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,695,721 (GRCm39) |
L341H |
probably damaging |
Het |
| Nell2 |
C |
T |
15: 95,129,216 (GRCm39) |
D716N |
probably damaging |
Het |
| Or1n2 |
A |
G |
2: 36,796,953 (GRCm39) |
|
probably benign |
Het |
| Or5t16 |
A |
G |
2: 86,818,707 (GRCm39) |
V271A |
probably benign |
Het |
| Or8g36 |
C |
T |
9: 39,422,810 (GRCm39) |
V69I |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,338,815 (GRCm39) |
H4R |
probably benign |
Het |
| Ppp1r37 |
T |
C |
7: 19,265,868 (GRCm39) |
T633A |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,258,302 (GRCm39) |
K576E |
probably damaging |
Het |
| Prl2c5 |
G |
T |
13: 13,360,469 (GRCm39) |
M45I |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,223,824 (GRCm39) |
G397* |
probably null |
Het |
| Rnf44 |
A |
G |
13: 54,830,667 (GRCm39) |
S247P |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,336,555 (GRCm39) |
F684L |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,502,648 (GRCm39) |
M286K |
probably benign |
Het |
| Slc39a9 |
G |
A |
12: 80,713,450 (GRCm39) |
G116D |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,762,621 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tmem161a |
C |
T |
8: 70,630,154 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,853,474 (GRCm39) |
H1831Q |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,667,614 (GRCm39) |
H792Q |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,720,542 (GRCm39) |
Q936R |
possibly damaging |
Het |
| Usp53 |
A |
T |
3: 122,756,531 (GRCm39) |
|
probably null |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,696 (GRCm39) |
C271* |
probably null |
Het |
| Vmn2r70 |
T |
A |
7: 85,211,071 (GRCm39) |
M547L |
probably damaging |
Het |
| Zc3h4 |
T |
C |
7: 16,163,770 (GRCm39) |
F655S |
unknown |
Het |
| Zfp605 |
G |
A |
5: 110,275,316 (GRCm39) |
G145S |
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 |
|
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 |
|
|
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'- GGCTAGGAATTTGGCTCTGC -3'
(R):5'- GGACTGACCTGTCAATCAATCATCC -3'
Sequencing Primer
(F):5'- CCAAATAGATAGTTTCCCTGAGGGC -3'
(R):5'- CCCAGGCTAAGTCTCCTGTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation