Incidental Mutation 'R6255:Vwa5b1'
| ID |
506047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa5b1
|
| Ensembl Gene |
ENSMUSG00000028753 |
| Gene Name |
von Willebrand factor A domain containing 5B1 |
| Synonyms |
|
| MMRRC Submission |
044372-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
138565360-138635884 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138578672 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 905
(N905S)
|
| 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: N905S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: N905S
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137206
AA Change: N91S
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,466,123 (GRCm38) |
V7E |
possibly damaging |
Het |
| Aars2 |
G |
A |
17: 45,514,609 (GRCm38) |
G333S |
probably damaging |
Het |
| Aen |
T |
A |
7: 78,905,844 (GRCm38) |
I85N |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 9,008,025 (GRCm38) |
H2224Q |
possibly damaging |
Het |
| Aldh18a1 |
C |
T |
19: 40,580,043 (GRCm38) |
R41H |
possibly damaging |
Het |
| Bpifb9b |
T |
A |
2: 154,309,364 (GRCm38) |
W2R |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,877,892 (GRCm38) |
I139T |
probably benign |
Het |
| Cdhr3 |
T |
A |
12: 33,053,475 (GRCm38) |
N381I |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,758,050 (GRCm38) |
Y721C |
probably damaging |
Het |
| Cherp |
G |
T |
8: 72,470,881 (GRCm38) |
A125D |
probably damaging |
Het |
| Cped1 |
G |
A |
6: 22,138,715 (GRCm38) |
|
probably null |
Het |
| Ctdp1 |
T |
A |
18: 80,459,297 (GRCm38) |
|
probably null |
Het |
| Cyp2c55 |
T |
C |
19: 39,018,667 (GRCm38) |
I169T |
probably benign |
Het |
| Cyp4a31 |
T |
C |
4: 115,574,920 (GRCm38) |
L418P |
possibly damaging |
Het |
| Efcab7 |
T |
C |
4: 99,829,390 (GRCm38) |
|
probably benign |
Het |
| Efcab8 |
T |
C |
2: 153,810,268 (GRCm38) |
W466R |
possibly damaging |
Het |
| Ehd3 |
C |
A |
17: 73,805,413 (GRCm38) |
N57K |
probably benign |
Het |
| Ern2 |
C |
A |
7: 122,173,272 (GRCm38) |
K654N |
probably damaging |
Het |
| Fbxo18 |
A |
T |
2: 11,748,446 (GRCm38) |
F879L |
probably benign |
Het |
| Gde1 |
T |
C |
7: 118,691,781 (GRCm38) |
D92G |
probably null |
Het |
| Gm4788 |
A |
T |
1: 139,753,011 (GRCm38) |
C256* |
probably null |
Het |
| Heatr5b |
A |
G |
17: 78,803,434 (GRCm38) |
V995A |
probably damaging |
Het |
| Ifrd2 |
A |
G |
9: 107,592,091 (GRCm38) |
E346G |
probably damaging |
Het |
| Ism1 |
AACGGACCCGTTCTTGTGGCTATGCA |
AA |
2: 139,746,042 (GRCm38) |
|
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,998,137 (GRCm38) |
V1102A |
possibly damaging |
Het |
| Itgb6 |
A |
T |
2: 60,605,276 (GRCm38) |
I710N |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 93,019,983 (GRCm38) |
K1578E |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,517,834 (GRCm38) |
|
probably null |
Het |
| Kitl |
T |
C |
10: 100,089,233 (GRCm38) |
*57Q |
probably null |
Het |
| Lrat |
C |
A |
3: 82,903,505 (GRCm38) |
V70F |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,487,023 (GRCm38) |
M1022K |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,655,599 (GRCm38) |
T1875A |
unknown |
Het |
| Mup4 |
T |
A |
4: 59,957,890 (GRCm38) |
N171I |
probably damaging |
Het |
| Npas4 |
G |
A |
19: 4,986,375 (GRCm38) |
T587I |
probably damaging |
Het |
| Oas3 |
A |
G |
5: 120,771,230 (GRCm38) |
V217A |
probably benign |
Het |
| Olfr786 |
A |
G |
10: 129,437,688 (GRCm38) |
N292S |
possibly damaging |
Het |
| Osbp |
C |
A |
19: 11,977,953 (GRCm38) |
A323D |
possibly damaging |
Het |
| Panx2 |
G |
A |
15: 89,067,618 (GRCm38) |
R96H |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,490,484 (GRCm38) |
R289Q |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,121,270 (GRCm38) |
R385G |
possibly damaging |
Het |
| Pkn2 |
T |
C |
3: 142,811,599 (GRCm38) |
T476A |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,553,802 (GRCm38) |
|
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,681,762 (GRCm38) |
S94P |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,489,663 (GRCm38) |
I429L |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,085,053 (GRCm38) |
K325E |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,110,542 (GRCm38) |
Y826C |
probably damaging |
Het |
| Rsph10b |
G |
A |
5: 143,959,746 (GRCm38) |
G19R |
probably damaging |
Het |
| Slc20a1 |
A |
G |
2: 129,208,004 (GRCm38) |
N361D |
probably damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,763,909 (GRCm38) |
D630G |
probably benign |
Het |
| Smtnl2 |
G |
A |
11: 72,401,399 (GRCm38) |
A274V |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,352,246 (GRCm38) |
|
probably null |
Het |
| Tspan10 |
T |
A |
11: 120,444,542 (GRCm38) |
C159* |
probably null |
Het |
| Uba6 |
G |
A |
5: 86,164,765 (GRCm38) |
T23I |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,952,451 (GRCm38) |
T660A |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,646,421 (GRCm38) |
L963P |
possibly damaging |
Het |
| Zfp990 |
T |
A |
4: 145,537,789 (GRCm38) |
N452K |
probably benign |
Het |
|
| Other mutations in Vwa5b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01952:Vwa5b1
|
APN |
4 |
138,581,217 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02133:Vwa5b1
|
APN |
4 |
138,586,557 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02379:Vwa5b1
|
APN |
4 |
138,612,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02671:Vwa5b1
|
APN |
4 |
138,569,126 (GRCm38) |
nonsense |
probably null |
|
|
IGL02864:Vwa5b1
|
APN |
4 |
138,608,975 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03076:Vwa5b1
|
APN |
4 |
138,600,188 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03115:Vwa5b1
|
APN |
4 |
138,600,149 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL03119:Vwa5b1
|
APN |
4 |
138,606,541 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4283001:Vwa5b1
|
UTSW |
4 |
138,600,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0114:Vwa5b1
|
UTSW |
4 |
138,608,858 (GRCm38) |
nonsense |
probably null |
|
|
R0157:Vwa5b1
|
UTSW |
4 |
138,604,879 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0528:Vwa5b1
|
UTSW |
4 |
138,594,351 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0562:Vwa5b1
|
UTSW |
4 |
138,635,711 (GRCm38) |
splice site |
probably benign |
|
|
R0718:Vwa5b1
|
UTSW |
4 |
138,608,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1555:Vwa5b1
|
UTSW |
4 |
138,605,477 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1573:Vwa5b1
|
UTSW |
4 |
138,604,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1857:Vwa5b1
|
UTSW |
4 |
138,569,102 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1883:Vwa5b1
|
UTSW |
4 |
138,575,389 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1906:Vwa5b1
|
UTSW |
4 |
138,600,236 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1913:Vwa5b1
|
UTSW |
4 |
138,592,020 (GRCm38) |
nonsense |
probably null |
|
|
R2121:Vwa5b1
|
UTSW |
4 |
138,588,569 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2213:Vwa5b1
|
UTSW |
4 |
138,604,812 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2355:Vwa5b1
|
UTSW |
4 |
138,591,910 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2655:Vwa5b1
|
UTSW |
4 |
138,594,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4134:Vwa5b1
|
UTSW |
4 |
138,594,330 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4135:Vwa5b1
|
UTSW |
4 |
138,594,330 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4635:Vwa5b1
|
UTSW |
4 |
138,610,839 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4773:Vwa5b1
|
UTSW |
4 |
138,581,755 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4832:Vwa5b1
|
UTSW |
4 |
138,605,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4906:Vwa5b1
|
UTSW |
4 |
138,610,747 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4916:Vwa5b1
|
UTSW |
4 |
138,594,262 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R4995:Vwa5b1
|
UTSW |
4 |
138,608,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5573:Vwa5b1
|
UTSW |
4 |
138,608,890 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5872:Vwa5b1
|
UTSW |
4 |
138,578,651 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6811:Vwa5b1
|
UTSW |
4 |
138,592,103 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6901:Vwa5b1
|
UTSW |
4 |
138,586,569 (GRCm38) |
missense |
probably benign |
|
|
R7144:Vwa5b1
|
UTSW |
4 |
138,605,431 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7146:Vwa5b1
|
UTSW |
4 |
138,581,612 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7159:Vwa5b1
|
UTSW |
4 |
138,575,422 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R7362:Vwa5b1
|
UTSW |
4 |
138,594,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7690:Vwa5b1
|
UTSW |
4 |
138,590,933 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7908:Vwa5b1
|
UTSW |
4 |
138,569,170 (GRCm38) |
nonsense |
probably null |
|
|
R7965:Vwa5b1
|
UTSW |
4 |
138,605,489 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8865:Vwa5b1
|
UTSW |
4 |
138,581,219 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8866:Vwa5b1
|
UTSW |
4 |
138,600,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8872:Vwa5b1
|
UTSW |
4 |
138,578,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8889:Vwa5b1
|
UTSW |
4 |
138,610,730 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9045:Vwa5b1
|
UTSW |
4 |
138,588,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9089:Vwa5b1
|
UTSW |
4 |
138,569,431 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9273:Vwa5b1
|
UTSW |
4 |
138,588,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9366:Vwa5b1
|
UTSW |
4 |
138,590,918 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9450:Vwa5b1
|
UTSW |
4 |
138,588,629 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9646:Vwa5b1
|
UTSW |
4 |
138,592,109 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1177:Vwa5b1
|
UTSW |
4 |
138,612,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTGAAGGCATCTTGCTCC -3'
(R):5'- GCAGGCCACCAATTTCAAG -3'
Sequencing Primer
(F):5'- CCCTCTTCCTCTGTGGCTGAG -3'
(R):5'- GACCTACTTGACCCCAAAGATG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation