Incidental Mutation 'R9450:Vwa5b1'
| ID |
714182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa5b1
|
| Ensembl Gene |
ENSMUSG00000028753 |
| Gene Name |
von Willebrand factor A domain containing 5B1 |
| Synonyms |
4931403E03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9450 (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 T
at 138315940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 601
(Q601K)
|
| 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: Q601K
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: Q601K
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| 2810004N23Rik |
T |
C |
8: 125,567,215 (GRCm39) |
K229E |
probably damaging |
Het |
| Abca8b |
T |
C |
11: 109,859,930 (GRCm39) |
T523A |
probably damaging |
Het |
| Adamts18 |
G |
T |
8: 114,490,942 (GRCm39) |
D508E |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,855,762 (GRCm39) |
E558G |
probably benign |
Het |
| Arid4a |
A |
T |
12: 71,119,374 (GRCm39) |
D331V |
|
Het |
| Ash1l |
A |
T |
3: 88,915,139 (GRCm39) |
K1923M |
possibly damaging |
Het |
| Atad2b |
T |
A |
12: 5,063,859 (GRCm39) |
S947T |
probably benign |
Het |
| B4galt1 |
A |
T |
4: 40,853,804 (GRCm39) |
M1K |
probably null |
Het |
| Ccpg1 |
G |
A |
9: 72,904,703 (GRCm39) |
S4N |
unknown |
Het |
| Cfap43 |
A |
T |
19: 47,886,310 (GRCm39) |
L102M |
probably benign |
Het |
| Clic6 |
T |
C |
16: 92,327,644 (GRCm39) |
I483T |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,661,373 (GRCm39) |
D245E |
probably benign |
Het |
| Cpsf7 |
G |
A |
19: 10,518,213 (GRCm39) |
|
probably null |
Het |
| Depdc5 |
A |
G |
5: 33,091,354 (GRCm39) |
D721G |
probably benign |
Het |
| Dhx29 |
C |
T |
13: 113,083,862 (GRCm39) |
T639I |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,861,426 (GRCm39) |
E1397G |
unknown |
Het |
| Dsp |
C |
T |
13: 38,376,379 (GRCm39) |
T1388M |
probably damaging |
Het |
| Fam186b |
C |
T |
15: 99,183,425 (GRCm39) |
G73D |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,893,076 (GRCm39) |
D960G |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,200,615 (GRCm39) |
V764A |
probably damaging |
Het |
| Grk3 |
T |
C |
5: 113,062,913 (GRCm39) |
K645E |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 53,878,188 (GRCm39) |
Y1339* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,316,845 (GRCm39) |
T3808N |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,355,055 (GRCm39) |
N129K |
possibly damaging |
Het |
| Iqca1l |
T |
A |
5: 24,754,447 (GRCm39) |
I395F |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,874,097 (GRCm39) |
Y340H |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,458,372 (GRCm39) |
I460M |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,242,739 (GRCm39) |
I599T |
possibly damaging |
Het |
| Kif1b |
A |
C |
4: 149,322,467 (GRCm39) |
D817E |
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,357,760 (GRCm39) |
C94* |
probably null |
Het |
| Larp1 |
T |
C |
11: 57,941,890 (GRCm39) |
S743P |
probably damaging |
Het |
| Ldlrap1 |
T |
C |
4: 134,474,490 (GRCm39) |
N267S |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ltf |
T |
C |
9: 110,851,064 (GRCm39) |
L92P |
probably damaging |
Het |
| Ly6g2 |
T |
A |
15: 75,092,574 (GRCm39) |
C98S |
probably damaging |
Het |
| Mns1 |
C |
A |
9: 72,359,890 (GRCm39) |
Q347K |
probably benign |
Het |
| Myof |
A |
T |
19: 37,949,374 (GRCm39) |
F611I |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,117,601 (GRCm39) |
L76P |
probably damaging |
Het |
| Nphp1 |
T |
C |
2: 127,616,008 (GRCm39) |
H114R |
|
Het |
| Or10g3 |
G |
C |
14: 52,610,110 (GRCm39) |
Y133* |
probably null |
Het |
| Or1e30 |
C |
A |
11: 73,678,101 (GRCm39) |
N112K |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,398 (GRCm39) |
N191K |
probably benign |
Het |
| Pcdha12 |
A |
G |
18: 37,153,992 (GRCm39) |
D237G |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
A |
T |
11: 71,952,412 (GRCm39) |
M593K |
possibly damaging |
Het |
| Plxdc1 |
C |
T |
11: 97,845,681 (GRCm39) |
V211I |
probably damaging |
Het |
| Prkn |
C |
A |
17: 12,057,521 (GRCm39) |
H301N |
possibly damaging |
Het |
| Prpf38a |
A |
T |
4: 108,430,072 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,697,105 (GRCm39) |
T1769A |
probably benign |
Het |
| Spata31f1e |
G |
T |
4: 42,793,833 (GRCm39) |
Q100K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,884,896 (GRCm39) |
D153G |
possibly damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,637 (GRCm39) |
M713K |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,894,434 (GRCm39) |
K966E |
possibly damaging |
Het |
| Vars2 |
T |
C |
17: 35,973,027 (GRCm39) |
T421A |
probably damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,984,770 (GRCm39) |
C298* |
probably null |
Het |
| Vps35l |
T |
C |
7: 118,352,118 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
T |
C |
7: 120,403,253 (GRCm39) |
|
probably null |
Het |
| Zbtb46 |
T |
C |
2: 181,037,281 (GRCm39) |
K454E |
probably damaging |
Het |
| Zfp426 |
T |
C |
9: 20,381,577 (GRCm39) |
H470R |
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 |
|
|
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 |
|
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'- TGCTCAGTATAAAGCAGCCATC -3'
(R):5'- TCAGAAGTCAGCCTCAATTCTCC -3'
Sequencing Primer
(F):5'- CATCATTATGGCCTCCGTGG -3'
(R):5'- AGGCACTCCGTCTTTACACTGATG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation