Incidental Mutation 'R1061:Vwa3b'
| ID |
94422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3b
|
| Ensembl Gene |
ENSMUSG00000050122 |
| Gene Name |
von Willebrand factor A domain containing 3B |
| Synonyms |
A230074B11Rik, 4921511C04Rik |
| MMRRC Submission |
039147-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1061 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 37196511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 46
(Q46P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
[ENSMUST00000169057]
|
| AlphaFold |
A0A571BE33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027289
|
| SMART Domains |
Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4537
|
159 |
285 |
9.1e-36 |
PFAM |
|
low complexity region
|
327 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
364 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169057
AA Change: Q46P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,108,153 (GRCm39) |
A715T |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,983,005 (GRCm39) |
Y641H |
probably damaging |
Het |
| Aqp4 |
A |
T |
18: 15,531,248 (GRCm39) |
V171E |
probably damaging |
Het |
| Arid4a |
T |
A |
12: 71,121,729 (GRCm39) |
S381R |
probably damaging |
Het |
| Armc8 |
T |
G |
9: 99,419,784 (GRCm39) |
N51H |
probably damaging |
Het |
| Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
| Bcl11a |
A |
T |
11: 24,114,069 (GRCm39) |
K471* |
probably null |
Het |
| Birc6 |
A |
G |
17: 74,996,307 (GRCm39) |
T4494A |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,746,409 (GRCm39) |
I139T |
probably benign |
Het |
| Ccdc60 |
C |
A |
5: 116,310,527 (GRCm39) |
R178S |
possibly damaging |
Het |
| Cd163 |
C |
T |
6: 124,286,128 (GRCm39) |
A226V |
probably benign |
Het |
| Cibar2 |
C |
A |
8: 120,896,443 (GRCm39) |
|
probably null |
Het |
| Cog1 |
T |
G |
11: 113,542,863 (GRCm39) |
S170A |
probably benign |
Het |
| Cwc15 |
T |
C |
9: 14,419,211 (GRCm39) |
L169P |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,923,643 (GRCm39) |
D333E |
probably benign |
Het |
| Ddc |
C |
T |
11: 11,779,132 (GRCm39) |
V331I |
probably benign |
Het |
| Dlc1 |
T |
A |
8: 37,325,205 (GRCm39) |
T367S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,943,514 (GRCm39) |
D3183G |
possibly damaging |
Het |
| Eif2a |
T |
A |
3: 58,452,486 (GRCm39) |
Y165* |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,727,267 (GRCm39) |
D1285G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,713,008 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,187,883 (GRCm39) |
T1549A |
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,342,713 (GRCm38) |
Y384C |
probably damaging |
Het |
| Flvcr1 |
A |
T |
1: 190,740,370 (GRCm39) |
V550E |
probably benign |
Het |
| Gcm2 |
A |
G |
13: 41,259,347 (GRCm39) |
W41R |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,782,247 (GRCm39) |
M160K |
possibly damaging |
Het |
| Gpr61 |
C |
T |
3: 108,057,623 (GRCm39) |
R346H |
probably damaging |
Het |
| Hoxa5 |
A |
T |
6: 52,181,135 (GRCm39) |
S66T |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,541,883 (GRCm39) |
V781D |
possibly damaging |
Het |
| Kdm3b |
G |
A |
18: 34,929,915 (GRCm39) |
V220M |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,516,268 (GRCm39) |
Y391* |
probably null |
Het |
| Mc2r |
A |
T |
18: 68,540,880 (GRCm39) |
Y138N |
probably damaging |
Het |
| Mtap |
C |
A |
4: 89,074,821 (GRCm39) |
D106E |
probably benign |
Het |
| Nup43 |
G |
T |
10: 7,543,435 (GRCm39) |
W37L |
probably damaging |
Het |
| Nxpe2 |
T |
A |
9: 48,237,663 (GRCm39) |
E197D |
probably damaging |
Het |
| Odad1 |
T |
C |
7: 45,591,179 (GRCm39) |
I218T |
probably damaging |
Het |
| Or10d1c |
C |
A |
9: 38,893,779 (GRCm39) |
C187F |
probably damaging |
Het |
| Or55b4 |
T |
A |
7: 102,133,321 (GRCm39) |
*335C |
probably null |
Het |
| Or5p60 |
T |
C |
7: 107,723,663 (GRCm39) |
Y269C |
probably damaging |
Het |
| Or8h8 |
A |
T |
2: 86,753,126 (GRCm39) |
V250D |
possibly damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,605,611 (GRCm39) |
H186R |
probably damaging |
Het |
| Pklr |
C |
T |
3: 89,052,188 (GRCm39) |
R467C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,326,401 (GRCm39) |
N112D |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Ppp3cb |
A |
C |
14: 20,558,682 (GRCm39) |
|
probably null |
Het |
| R3hcc1l |
C |
T |
19: 42,571,865 (GRCm39) |
R135* |
probably null |
Het |
| Ralyl |
A |
C |
3: 14,180,761 (GRCm39) |
D68A |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| S100a1 |
T |
C |
3: 90,418,619 (GRCm39) |
N65S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,624,729 (GRCm39) |
M531K |
probably damaging |
Het |
| Slc5a5 |
T |
A |
8: 71,342,865 (GRCm39) |
M232L |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,350,305 (GRCm39) |
N1054K |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,570,408 (GRCm39) |
N1427D |
probably benign |
Het |
| Tns1 |
A |
C |
1: 73,956,831 (GRCm39) |
V530G |
probably damaging |
Het |
| Trcg1 |
C |
A |
9: 57,153,156 (GRCm39) |
Q600K |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,468,131 (GRCm39) |
E40G |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,334,420 (GRCm39) |
F1138S |
possibly damaging |
Het |
| Vmn2r26 |
C |
T |
6: 124,038,603 (GRCm39) |
T726I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,148,440 (GRCm39) |
R112* |
probably null |
Het |
| Vwa2 |
G |
T |
19: 56,897,426 (GRCm39) |
R577L |
probably benign |
Het |
| Wdr25 |
T |
A |
12: 108,958,725 (GRCm39) |
|
probably null |
Het |
| Wrap53 |
A |
G |
11: 69,453,226 (GRCm39) |
L405P |
probably damaging |
Het |
| Zfp629 |
C |
A |
7: 127,211,161 (GRCm39) |
W216L |
probably damaging |
Het |
|
| Other mutations in Vwa3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01404:Vwa3b
|
APN |
1 |
37,193,117 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02236:Vwa3b
|
APN |
1 |
37,193,132 (GRCm39) |
splice site |
probably benign |
|
|
IGL02653:Vwa3b
|
APN |
1 |
37,214,646 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02823:Vwa3b
|
APN |
1 |
37,225,985 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03030:Vwa3b
|
APN |
1 |
37,084,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0014:Vwa3b
|
UTSW |
1 |
37,212,995 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0035:Vwa3b
|
UTSW |
1 |
37,204,770 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0102:Vwa3b
|
UTSW |
1 |
37,174,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Vwa3b
|
UTSW |
1 |
37,203,566 (GRCm39) |
splice site |
probably benign |
|
|
R1386:Vwa3b
|
UTSW |
1 |
37,090,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2441:Vwa3b
|
UTSW |
1 |
37,182,150 (GRCm39) |
unclassified |
probably benign |
|
|
R3117:Vwa3b
|
UTSW |
1 |
37,148,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3119:Vwa3b
|
UTSW |
1 |
37,148,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4081:Vwa3b
|
UTSW |
1 |
37,074,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4393:Vwa3b
|
UTSW |
1 |
37,084,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Vwa3b
|
UTSW |
1 |
37,153,684 (GRCm39) |
splice site |
probably benign |
|
|
R4950:Vwa3b
|
UTSW |
1 |
37,124,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4978:Vwa3b
|
UTSW |
1 |
37,154,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5141:Vwa3b
|
UTSW |
1 |
37,226,102 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5286:Vwa3b
|
UTSW |
1 |
37,084,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Vwa3b
|
UTSW |
1 |
37,153,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5426:Vwa3b
|
UTSW |
1 |
37,154,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5480:Vwa3b
|
UTSW |
1 |
37,139,787 (GRCm39) |
nonsense |
probably null |
|
|
R5727:Vwa3b
|
UTSW |
1 |
37,174,600 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5876:Vwa3b
|
UTSW |
1 |
37,115,520 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6191:Vwa3b
|
UTSW |
1 |
37,153,612 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6219:Vwa3b
|
UTSW |
1 |
37,139,779 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6250:Vwa3b
|
UTSW |
1 |
37,090,966 (GRCm39) |
splice site |
probably null |
|
|
R6281:Vwa3b
|
UTSW |
1 |
37,163,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Vwa3b
|
UTSW |
1 |
37,196,457 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6467:Vwa3b
|
UTSW |
1 |
37,124,367 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6512:Vwa3b
|
UTSW |
1 |
37,102,723 (GRCm39) |
intron |
probably benign |
|
|
R6541:Vwa3b
|
UTSW |
1 |
37,090,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6724:Vwa3b
|
UTSW |
1 |
37,084,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Vwa3b
|
UTSW |
1 |
37,196,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7046:Vwa3b
|
UTSW |
1 |
37,212,959 (GRCm39) |
missense |
probably benign |
|
|
R7117:Vwa3b
|
UTSW |
1 |
37,174,634 (GRCm39) |
missense |
|
|
|
R7304:Vwa3b
|
UTSW |
1 |
37,203,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Vwa3b
|
UTSW |
1 |
37,153,678 (GRCm39) |
nonsense |
probably null |
|
|
R7762:Vwa3b
|
UTSW |
1 |
37,163,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7911:Vwa3b
|
UTSW |
1 |
37,193,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Vwa3b
|
UTSW |
1 |
37,168,020 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8402:Vwa3b
|
UTSW |
1 |
37,204,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8697:Vwa3b
|
UTSW |
1 |
37,115,461 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8758:Vwa3b
|
UTSW |
1 |
37,176,873 (GRCm39) |
missense |
|
|
|
R8874:Vwa3b
|
UTSW |
1 |
37,074,839 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9011:Vwa3b
|
UTSW |
1 |
37,154,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Vwa3b
|
UTSW |
1 |
37,124,391 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9015:Vwa3b
|
UTSW |
1 |
37,203,597 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9102:Vwa3b
|
UTSW |
1 |
37,174,593 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9263:Vwa3b
|
UTSW |
1 |
37,099,493 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9277:Vwa3b
|
UTSW |
1 |
37,196,534 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9294:Vwa3b
|
UTSW |
1 |
37,074,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9341:Vwa3b
|
UTSW |
1 |
37,153,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Vwa3b
|
UTSW |
1 |
37,153,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Vwa3b
|
UTSW |
1 |
37,099,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9758:Vwa3b
|
UTSW |
1 |
37,081,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACGTGATGAAAGCCTCTGGTG -3'
(R):5'- GGAGCCTGAAGAATTGTCCAGCAC -3'
Sequencing Primer
(F):5'- ATGAAAGCCTCTGGTGATAGTG -3'
(R):5'- ATTGTCCAGCACCAAGGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation