Incidental Mutation 'R8707:Vwa5b2'
| ID |
669314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa5b2
|
| Ensembl Gene |
ENSMUSG00000046613 |
| Gene Name |
von Willebrand factor A domain containing 5B2 |
| Synonyms |
EG328644 |
| MMRRC Submission |
068561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R8707 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20408221-20424127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20412965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 116
(T116A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096197]
[ENSMUST00000100074]
[ENSMUST00000149236]
[ENSMUST00000159780]
[ENSMUST00000161257]
[ENSMUST00000232279]
[ENSMUST00000232474]
|
| AlphaFold |
Q3UR50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096197
AA Change: T116A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: T116A
| 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
AA Change: T116A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000097652
Gene: ENSMUSG00000046613
AA Change: T116A
| 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 |
probably benign
Transcript: ENSMUST00000149236
AA Change: T116A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124117
Gene: ENSMUSG00000046613
AA Change: T116A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
2 |
79 |
7.9e-32 |
PFAM |
|
Blast:VWA
|
352 |
408 |
2e-26 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159780
AA Change: T116A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: T116A
| 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 |
probably benign
Transcript: ENSMUST00000232279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232474
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb18 |
A |
G |
1: 89,920,857 (GRCm39) |
L140P |
probably damaging |
Het |
| Ccdc8 |
C |
T |
7: 16,729,975 (GRCm39) |
A488V |
unknown |
Het |
| Cfap57 |
C |
A |
4: 118,450,203 (GRCm39) |
V640F |
probably benign |
Het |
| Cx3cl1 |
A |
T |
8: 95,506,375 (GRCm39) |
T127S |
probably benign |
Het |
| Dars2 |
A |
G |
1: 160,884,081 (GRCm39) |
C263R |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,069,847 (GRCm39) |
M1135V |
probably damaging |
Het |
| Echdc2 |
G |
A |
4: 108,031,028 (GRCm39) |
R169Q |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,819,920 (GRCm39) |
A2549V |
probably benign |
Het |
| Fermt1 |
G |
A |
2: 132,766,881 (GRCm39) |
T362I |
probably benign |
Het |
| Fev |
A |
G |
1: 74,924,316 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,073,070 (GRCm39) |
D404V |
probably damaging |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Igfals |
C |
A |
17: 25,099,185 (GRCm39) |
A92E |
possibly damaging |
Het |
| Inppl1 |
G |
A |
7: 101,478,903 (GRCm39) |
A33V |
|
Het |
| Kcnc4 |
A |
G |
3: 107,355,449 (GRCm39) |
V333A |
possibly damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,791,234 (GRCm39) |
R393* |
probably null |
Het |
| Lrrc14 |
T |
A |
15: 76,597,416 (GRCm39) |
C109S |
probably benign |
Het |
| Ms4a12 |
A |
G |
19: 11,192,736 (GRCm39) |
V200A |
possibly damaging |
Het |
| Mtnr1b |
C |
A |
9: 15,785,809 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
A |
16: 48,973,450 (GRCm39) |
C1240Y |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,552,875 (GRCm39) |
Y199C |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,510,359 (GRCm39) |
L47P |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,313,039 (GRCm39) |
T358I |
probably damaging |
Het |
| Pop1 |
C |
T |
15: 34,529,349 (GRCm39) |
T823I |
probably benign |
Het |
| Rad54l |
A |
G |
4: 115,954,533 (GRCm39) |
V690A |
probably benign |
Het |
| Setdb2 |
G |
A |
14: 59,660,907 (GRCm39) |
Q79* |
probably null |
Het |
| Svep1 |
C |
A |
4: 58,070,197 (GRCm39) |
E2530* |
probably null |
Het |
| Synj1 |
T |
C |
16: 90,752,319 (GRCm39) |
D1012G |
probably benign |
Het |
| Thbs2 |
C |
T |
17: 14,911,645 (GRCm39) |
G11D |
probably damaging |
Het |
| Tmem177 |
G |
A |
1: 119,838,070 (GRCm39) |
A203V |
probably benign |
Het |
| Trappc3l |
A |
G |
10: 33,978,727 (GRCm39) |
Y177C |
unknown |
Het |
| Ube2d1 |
T |
C |
10: 71,092,478 (GRCm39) |
D122G |
probably benign |
Het |
| Wasf2 |
T |
A |
4: 132,917,540 (GRCm39) |
V213E |
unknown |
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 |
|
R3687:Vwa5b2
|
UTSW |
16 |
20,410,308 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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'- ATGTGTCATCCTGCCTCACG -3'
(R):5'- ACTAGACCCAGAGAACTTGAGG -3'
Sequencing Primer
(F):5'- GTGCCTTGCCCACTACAAAGTC -3'
(R):5'- TGAAGAGAATCACCATAGGCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation