Incidental Mutation 'R3687:Vwa5b2'
ID |
269591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa5b2
|
Ensembl Gene |
ENSMUSG00000046613 |
Gene Name |
von Willebrand factor A domain containing 5B2 |
Synonyms |
EG328644 |
MMRRC Submission |
040683-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R3687 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
20408221-20424127 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 20410308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096197]
[ENSMUST00000100074]
[ENSMUST00000149236]
[ENSMUST00000159780]
[ENSMUST00000161257]
[ENSMUST00000232474]
[ENSMUST00000232279]
|
AlphaFold |
Q3UR50 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096197
|
SMART Domains |
Protein: ENSMUSP00000093911 Gene: ENSMUSG00000046613
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
7.3e-31 |
PFAM |
VWA
|
352 |
521 |
3.16e-1 |
SMART |
low complexity region
|
684 |
706 |
N/A |
INTRINSIC |
low complexity region
|
725 |
733 |
N/A |
INTRINSIC |
low complexity region
|
744 |
764 |
N/A |
INTRINSIC |
low complexity region
|
780 |
797 |
N/A |
INTRINSIC |
low complexity region
|
823 |
833 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1046 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100074
|
SMART Domains |
Protein: ENSMUSP00000097652 Gene: ENSMUSG00000046613
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
1.9e-31 |
PFAM |
VWA
|
352 |
521 |
3.16e-1 |
SMART |
low complexity region
|
572 |
586 |
N/A |
INTRINSIC |
low complexity region
|
587 |
602 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145483
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149236
|
SMART Domains |
Protein: ENSMUSP00000124117 Gene: ENSMUSG00000046613
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
7.9e-32 |
PFAM |
Blast:VWA
|
352 |
408 |
2e-26 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159736
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159780
|
SMART Domains |
Protein: ENSMUSP00000123727 Gene: ENSMUSG00000046613
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
2 |
79 |
5.5e-31 |
PFAM |
VWA
|
352 |
521 |
3.16e-1 |
SMART |
low complexity region
|
684 |
706 |
N/A |
INTRINSIC |
low complexity region
|
725 |
733 |
N/A |
INTRINSIC |
low complexity region
|
744 |
764 |
N/A |
INTRINSIC |
low complexity region
|
780 |
797 |
N/A |
INTRINSIC |
low complexity region
|
823 |
833 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1046 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161257
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162919
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161715
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232474
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232229
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232279
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra1 |
G |
A |
7: 139,432,506 (GRCm39) |
V115M |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
B230307C23Rik |
T |
A |
16: 97,810,199 (GRCm39) |
N62K |
probably benign |
Het |
Bnip2 |
T |
A |
9: 69,906,432 (GRCm39) |
Y118N |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
C2cd3 |
C |
T |
7: 100,085,040 (GRCm39) |
P1544L |
probably benign |
Het |
Cd44 |
G |
A |
2: 102,731,695 (GRCm39) |
|
probably null |
Het |
Col10a1 |
A |
G |
10: 34,271,494 (GRCm39) |
T489A |
probably benign |
Het |
Dgkk |
T |
C |
X: 6,804,631 (GRCm39) |
|
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
Elmo3 |
G |
A |
8: 106,035,468 (GRCm39) |
|
probably null |
Het |
Galnt13 |
A |
T |
2: 54,770,074 (GRCm39) |
T289S |
probably benign |
Het |
Gm16485 |
T |
C |
9: 8,972,382 (GRCm39) |
|
probably benign |
Het |
Gm43302 |
A |
T |
5: 105,428,132 (GRCm39) |
V143D |
probably damaging |
Het |
Gpr18 |
T |
C |
14: 122,149,873 (GRCm39) |
T51A |
probably damaging |
Het |
Hr |
T |
A |
14: 70,795,236 (GRCm39) |
N289K |
probably damaging |
Het |
Ighv1-24 |
T |
A |
12: 114,736,700 (GRCm39) |
I67F |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,075,658 (GRCm39) |
E554G |
probably benign |
Het |
Or10u4 |
A |
T |
10: 129,802,581 (GRCm39) |
|
probably null |
Het |
Or5b99 |
G |
A |
19: 12,976,466 (GRCm39) |
G39R |
probably damaging |
Het |
Or8b101 |
A |
G |
9: 38,020,177 (GRCm39) |
Y60C |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,719,009 (GRCm39) |
T1049A |
unknown |
Het |
Pkhd1l1 |
T |
C |
15: 44,409,983 (GRCm39) |
S2497P |
probably benign |
Het |
Ppm1f |
T |
C |
16: 16,741,747 (GRCm39) |
V407A |
probably damaging |
Het |
Ppox |
A |
G |
1: 171,105,066 (GRCm39) |
L374S |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,617,831 (GRCm39) |
Y3221H |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,349,039 (GRCm39) |
I520F |
probably damaging |
Het |
Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rab3d |
A |
T |
9: 21,826,204 (GRCm39) |
M101K |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
Tas2r114 |
T |
C |
6: 131,666,231 (GRCm39) |
T266A |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trem3 |
T |
A |
17: 48,564,955 (GRCm39) |
V152D |
probably damaging |
Het |
Vmn2r4 |
T |
A |
3: 64,296,896 (GRCm39) |
I630F |
possibly damaging |
Het |
Zfp518b |
A |
T |
5: 38,831,455 (GRCm39) |
H183Q |
probably damaging |
Het |
|
Other mutations in Vwa5b2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01307:Vwa5b2
|
APN |
16 |
20,423,020 (GRCm39) |
missense |
probably benign |
|
IGL01543:Vwa5b2
|
APN |
16 |
20,414,466 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01719:Vwa5b2
|
APN |
16 |
20,416,183 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02006:Vwa5b2
|
APN |
16 |
20,415,843 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02150:Vwa5b2
|
APN |
16 |
20,423,576 (GRCm39) |
missense |
probably benign |
|
IGL02301:Vwa5b2
|
APN |
16 |
20,423,540 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02373:Vwa5b2
|
APN |
16 |
20,423,594 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02413:Vwa5b2
|
APN |
16 |
20,416,851 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02664:Vwa5b2
|
APN |
16 |
20,414,063 (GRCm39) |
unclassified |
probably benign |
|
R1171:Vwa5b2
|
UTSW |
16 |
20,423,734 (GRCm39) |
missense |
probably benign |
|
R1405:Vwa5b2
|
UTSW |
16 |
20,423,066 (GRCm39) |
missense |
probably benign |
0.00 |
R1405:Vwa5b2
|
UTSW |
16 |
20,423,066 (GRCm39) |
missense |
probably benign |
0.00 |
R1464:Vwa5b2
|
UTSW |
16 |
20,415,019 (GRCm39) |
missense |
probably benign |
0.08 |
R1464:Vwa5b2
|
UTSW |
16 |
20,415,019 (GRCm39) |
missense |
probably benign |
0.08 |
R1730:Vwa5b2
|
UTSW |
16 |
20,419,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R1901:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1902:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1903:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1959:Vwa5b2
|
UTSW |
16 |
20,420,941 (GRCm39) |
critical splice donor site |
probably null |
|
R1961:Vwa5b2
|
UTSW |
16 |
20,420,941 (GRCm39) |
critical splice donor site |
probably null |
|
R3522:Vwa5b2
|
UTSW |
16 |
20,420,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R3746:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
R3747:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
R3749:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
R3952:Vwa5b2
|
UTSW |
16 |
20,417,111 (GRCm39) |
makesense |
probably null |
|
R4641:Vwa5b2
|
UTSW |
16 |
20,423,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R4646:Vwa5b2
|
UTSW |
16 |
20,415,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R4772:Vwa5b2
|
UTSW |
16 |
20,419,553 (GRCm39) |
splice site |
probably null |
|
R5032:Vwa5b2
|
UTSW |
16 |
20,419,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R5286:Vwa5b2
|
UTSW |
16 |
20,415,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R5569:Vwa5b2
|
UTSW |
16 |
20,414,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R5585:Vwa5b2
|
UTSW |
16 |
20,413,428 (GRCm39) |
nonsense |
probably null |
|
R5640:Vwa5b2
|
UTSW |
16 |
20,416,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R6330:Vwa5b2
|
UTSW |
16 |
20,420,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R6459:Vwa5b2
|
UTSW |
16 |
20,413,429 (GRCm39) |
missense |
probably damaging |
0.98 |
R6992:Vwa5b2
|
UTSW |
16 |
20,416,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Vwa5b2
|
UTSW |
16 |
20,422,984 (GRCm39) |
missense |
probably benign |
0.00 |
R7231:Vwa5b2
|
UTSW |
16 |
20,422,878 (GRCm39) |
missense |
probably benign |
0.00 |
R7591:Vwa5b2
|
UTSW |
16 |
20,420,317 (GRCm39) |
missense |
probably damaging |
0.96 |
R7765:Vwa5b2
|
UTSW |
16 |
20,413,361 (GRCm39) |
missense |
probably benign |
|
R8269:Vwa5b2
|
UTSW |
16 |
20,423,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R8311:Vwa5b2
|
UTSW |
16 |
20,409,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R8707:Vwa5b2
|
UTSW |
16 |
20,412,965 (GRCm39) |
missense |
probably benign |
0.01 |
R8716:Vwa5b2
|
UTSW |
16 |
20,415,026 (GRCm39) |
missense |
probably benign |
0.00 |
R8815:Vwa5b2
|
UTSW |
16 |
20,419,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R8965:Vwa5b2
|
UTSW |
16 |
20,415,076 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9245:Vwa5b2
|
UTSW |
16 |
20,416,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9431:Vwa5b2
|
UTSW |
16 |
20,423,046 (GRCm39) |
missense |
probably benign |
0.00 |
R9536:Vwa5b2
|
UTSW |
16 |
20,414,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R9695:Vwa5b2
|
UTSW |
16 |
20,422,975 (GRCm39) |
missense |
probably benign |
|
R9727:Vwa5b2
|
UTSW |
16 |
20,423,477 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vwa5b2
|
UTSW |
16 |
20,410,003 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Vwa5b2
|
UTSW |
16 |
20,419,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTTTCATGACGCTGGAGC -3'
(R):5'- GGTTCAGGTTAGATGCCCAG -3'
Sequencing Primer
(F):5'- CAAATGCCAGGTGGGGTTC -3'
(R):5'- TCAGGTTAGATGCCCAGTCCATG -3'
|
Posted On |
2015-02-19 |