Incidental Mutation 'R6901:Vwa5b1'
ID |
538518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa5b1
|
Ensembl Gene |
ENSMUSG00000028753 |
Gene Name |
von Willebrand factor A domain containing 5B1 |
Synonyms |
4931403E03Rik |
MMRRC Submission |
044995-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6901 (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 138313880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 696
(T696I)
|
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: T696I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030533 Gene: ENSMUSG00000028753 AA Change: T696I
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: 99.3%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd5 |
T |
A |
9: 122,197,220 (GRCm39) |
S136T |
probably benign |
Het |
Anxa10 |
T |
C |
8: 62,549,816 (GRCm39) |
T10A |
probably damaging |
Het |
Ap3b1 |
A |
G |
13: 94,554,650 (GRCm39) |
E262G |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,134,660 (GRCm39) |
|
probably null |
Het |
Arhgef40 |
A |
G |
14: 52,234,825 (GRCm39) |
T1043A |
probably damaging |
Het |
Arhgef5 |
T |
A |
6: 43,250,232 (GRCm39) |
S328T |
probably benign |
Het |
Arid4a |
A |
G |
12: 71,113,911 (GRCm39) |
K166R |
probably damaging |
Het |
Cdh12 |
A |
G |
15: 21,583,872 (GRCm39) |
I571V |
probably benign |
Het |
Cdh4 |
G |
A |
2: 179,501,987 (GRCm39) |
V316I |
probably benign |
Het |
Cebpg |
A |
T |
7: 34,750,202 (GRCm39) |
H20Q |
probably benign |
Het |
Ces4a |
G |
A |
8: 105,873,330 (GRCm39) |
V392I |
probably benign |
Het |
CN725425 |
C |
A |
15: 91,124,966 (GRCm39) |
P169T |
possibly damaging |
Het |
Cyp2c54 |
A |
G |
19: 40,058,703 (GRCm39) |
F243S |
probably damaging |
Het |
Dkk2 |
T |
A |
3: 131,880,887 (GRCm39) |
|
probably null |
Het |
Dync2h1 |
A |
G |
9: 7,131,855 (GRCm39) |
Y1651H |
probably damaging |
Het |
Dyrk1b |
T |
A |
7: 27,884,542 (GRCm39) |
L346Q |
probably damaging |
Het |
Ephx4 |
T |
C |
5: 107,561,427 (GRCm39) |
V85A |
probably benign |
Het |
Etv6 |
A |
G |
6: 134,243,421 (GRCm39) |
E392G |
probably benign |
Het |
Fli1 |
T |
A |
9: 32,341,221 (GRCm39) |
N202I |
probably benign |
Het |
Gpc6 |
G |
T |
14: 118,188,629 (GRCm39) |
R421L |
possibly damaging |
Het |
Gse1 |
A |
G |
8: 120,956,561 (GRCm39) |
|
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,800,089 (GRCm39) |
E360G |
probably benign |
Het |
Hnrnpab |
T |
C |
11: 51,492,675 (GRCm39) |
|
probably benign |
Het |
Hyal4 |
A |
G |
6: 24,756,190 (GRCm39) |
E136G |
probably damaging |
Het |
Ift56 |
G |
A |
6: 38,378,079 (GRCm39) |
R297H |
possibly damaging |
Het |
Kcna3 |
C |
T |
3: 106,943,884 (GRCm39) |
A49V |
probably benign |
Het |
Krt42 |
C |
T |
11: 100,160,542 (GRCm39) |
M52I |
probably benign |
Het |
Lyrm4 |
A |
T |
13: 36,301,107 (GRCm39) |
Y13N |
probably damaging |
Het |
Map2 |
C |
T |
1: 66,460,932 (GRCm39) |
S1576L |
possibly damaging |
Het |
Map3k12 |
G |
T |
15: 102,409,064 (GRCm39) |
P817Q |
possibly damaging |
Het |
Map3k12 |
G |
T |
15: 102,409,065 (GRCm39) |
P817T |
possibly damaging |
Het |
Masp1 |
T |
C |
16: 23,332,584 (GRCm39) |
K84E |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,310,489 (GRCm39) |
|
probably null |
Het |
Mrap |
C |
G |
16: 90,546,193 (GRCm39) |
S94C |
probably damaging |
Het |
Mybpc2 |
C |
A |
7: 44,154,779 (GRCm39) |
C986F |
probably damaging |
Het |
Nbea |
A |
C |
3: 55,926,836 (GRCm39) |
M789R |
probably damaging |
Het |
Or2ag1b |
T |
C |
7: 106,288,396 (GRCm39) |
I181V |
probably benign |
Het |
Or6b2 |
G |
T |
1: 92,408,327 (GRCm39) |
N5K |
probably damaging |
Het |
Pde4a |
A |
G |
9: 21,116,266 (GRCm39) |
N475S |
probably benign |
Het |
Pex7 |
C |
T |
10: 19,736,740 (GRCm39) |
V297I |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,341,246 (GRCm39) |
H33L |
unknown |
Het |
Prl8a6 |
A |
T |
13: 27,621,030 (GRCm39) |
Y67N |
possibly damaging |
Het |
Rcor1 |
A |
T |
12: 111,075,322 (GRCm39) |
E383V |
probably damaging |
Het |
Slc22a27 |
A |
T |
19: 7,903,944 (GRCm39) |
S64R |
probably damaging |
Het |
Snx7 |
G |
A |
3: 117,623,285 (GRCm39) |
Q292* |
probably null |
Het |
Tgm3 |
C |
T |
2: 129,883,890 (GRCm39) |
T516M |
possibly damaging |
Het |
Trim9 |
T |
C |
12: 70,393,413 (GRCm39) |
E177G |
probably damaging |
Het |
Ttc28 |
C |
A |
5: 111,424,891 (GRCm39) |
T1541N |
possibly damaging |
Het |
Ttc8 |
T |
A |
12: 98,927,735 (GRCm39) |
L202H |
probably damaging |
Het |
Ttll13 |
T |
C |
7: 79,899,930 (GRCm39) |
Y90H |
probably damaging |
Het |
Uba1y |
T |
G |
Y: 825,496 (GRCm39) |
I286S |
probably benign |
Het |
Ubxn11 |
G |
A |
4: 133,853,575 (GRCm39) |
A125T |
probably damaging |
Het |
Vmn1r48 |
A |
G |
6: 90,013,550 (GRCm39) |
Y92H |
possibly damaging |
Het |
Vmn1r74 |
T |
C |
7: 11,581,368 (GRCm39) |
F223L |
probably benign |
Het |
Zfp266 |
G |
T |
9: 20,410,895 (GRCm39) |
Y427* |
probably null |
Het |
Zfp362 |
C |
T |
4: 128,679,808 (GRCm39) |
C273Y |
probably damaging |
Het |
Zfp385c |
T |
C |
11: 100,523,585 (GRCm39) |
N123S |
probably benign |
Het |
Zfp936 |
T |
A |
7: 42,839,467 (GRCm39) |
H311Q |
probably 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 |
R6811:Vwa5b1
|
UTSW |
4 |
138,319,414 (GRCm39) |
missense |
probably benign |
0.00 |
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'- ATGCAGCCTGAGGGATCATC -3'
(R):5'- TGACTACCCTTGCCCAGGTC -3'
Sequencing Primer
(F):5'- GCCTGAGGGATCATCAATAAACATGC -3'
(R):5'- AGGTCTGGATGTCTCCCG -3'
|
Posted On |
2018-11-06 |