Incidental Mutation 'R7304:Vwa3b'
ID |
567138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3b
|
Ensembl Gene |
ENSMUSG00000050122 |
Gene Name |
von Willebrand factor A domain containing 3B |
Synonyms |
A230074B11Rik, 4921511C04Rik |
MMRRC Submission |
045365-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R7304 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37203586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 55
(L55S)
|
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: L55S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,247,203 (GRCm39) |
S2317G |
probably benign |
Het |
Acap2 |
A |
C |
16: 30,926,934 (GRCm39) |
L502R |
probably benign |
Het |
Amotl2 |
A |
G |
9: 102,605,549 (GRCm39) |
E467G |
probably damaging |
Het |
Apbb1ip |
A |
T |
2: 22,743,147 (GRCm39) |
|
probably null |
Het |
Armc9 |
C |
G |
1: 86,090,437 (GRCm39) |
D77E |
probably benign |
Het |
Art1 |
T |
A |
7: 101,755,531 (GRCm39) |
S8T |
possibly damaging |
Het |
Asic5 |
G |
A |
3: 81,916,872 (GRCm39) |
A321T |
possibly damaging |
Het |
Astn2 |
A |
G |
4: 66,103,612 (GRCm39) |
I267T |
unknown |
Het |
Bmp8a |
T |
C |
4: 123,236,182 (GRCm39) |
N107S |
probably benign |
Het |
Card14 |
T |
A |
11: 119,228,573 (GRCm39) |
L633Q |
probably damaging |
Het |
Chpf |
C |
T |
1: 75,455,698 (GRCm39) |
V18M |
possibly damaging |
Het |
Cog7 |
T |
C |
7: 121,536,362 (GRCm39) |
I493V |
probably benign |
Het |
Col3a1 |
A |
T |
1: 45,386,971 (GRCm39) |
N1394I |
unknown |
Het |
Crybg1 |
C |
T |
10: 43,873,254 (GRCm39) |
D1285N |
probably benign |
Het |
Depdc7 |
A |
G |
2: 104,553,463 (GRCm39) |
V395A |
possibly damaging |
Het |
Dido1 |
G |
A |
2: 180,329,286 (GRCm39) |
L379F |
probably damaging |
Het |
Dnajc13 |
G |
T |
9: 104,115,713 (GRCm39) |
T32N |
probably benign |
Het |
Dok2 |
T |
A |
14: 71,013,468 (GRCm39) |
S133R |
probably benign |
Het |
Ehbp1l1 |
C |
T |
19: 5,766,410 (GRCm39) |
R1311H |
probably damaging |
Het |
Gm3099 |
A |
T |
14: 15,346,488 (GRCm39) |
N118I |
probably damaging |
Het |
Gtse1 |
A |
G |
15: 85,755,748 (GRCm39) |
T471A |
probably benign |
Het |
Heg1 |
G |
A |
16: 33,581,160 (GRCm39) |
A13T |
possibly damaging |
Het |
Ifi209 |
A |
T |
1: 173,470,156 (GRCm39) |
Y248F |
possibly damaging |
Het |
Irag1 |
T |
C |
7: 110,498,931 (GRCm39) |
T367A |
possibly damaging |
Het |
Itgb3bp |
C |
G |
4: 99,657,758 (GRCm39) |
E169Q |
probably damaging |
Het |
Kcna2 |
A |
G |
3: 107,012,066 (GRCm39) |
T216A |
probably benign |
Het |
Kcnj6 |
A |
T |
16: 94,742,042 (GRCm39) |
M10K |
probably benign |
Het |
Krt17 |
T |
G |
11: 100,148,163 (GRCm39) |
Q397P |
probably benign |
Het |
Lrtm1 |
T |
A |
14: 28,744,075 (GRCm39) |
M181K |
probably damaging |
Het |
Map3k5 |
A |
G |
10: 19,975,301 (GRCm39) |
H741R |
probably damaging |
Het |
Mier1 |
T |
A |
4: 102,996,599 (GRCm39) |
Y120* |
probably null |
Het |
Myh14 |
T |
A |
7: 44,279,415 (GRCm39) |
T922S |
probably benign |
Het |
Nfkbie |
A |
T |
17: 45,871,067 (GRCm39) |
I240F |
possibly damaging |
Het |
Npas3 |
C |
A |
12: 54,115,824 (GRCm39) |
H915Q |
probably damaging |
Het |
Nrg2 |
A |
T |
18: 36,178,994 (GRCm39) |
V314E |
probably benign |
Het |
Or2z9 |
T |
A |
8: 72,854,190 (GRCm39) |
Y195* |
probably null |
Het |
Pds5a |
T |
C |
5: 65,777,077 (GRCm39) |
N28S |
probably damaging |
Het |
Pira1 |
T |
C |
7: 3,740,493 (GRCm39) |
T243A |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,361,878 (GRCm39) |
N517I |
possibly damaging |
Het |
Plekhb1 |
T |
C |
7: 100,294,874 (GRCm39) |
Y99C |
probably benign |
Het |
Plpp6 |
T |
C |
19: 28,941,617 (GRCm39) |
S73P |
probably benign |
Het |
Polb |
T |
C |
8: 23,129,975 (GRCm39) |
N199S |
probably benign |
Het |
Ppp1r13b |
T |
C |
12: 111,838,840 (GRCm39) |
N13D |
possibly damaging |
Het |
Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
Ptprn2 |
T |
A |
12: 117,212,164 (GRCm39) |
V862D |
probably damaging |
Het |
Rassf4 |
T |
C |
6: 116,617,278 (GRCm39) |
I242M |
probably damaging |
Het |
Rnf19a |
G |
A |
15: 36,254,598 (GRCm39) |
T320I |
probably damaging |
Het |
Sctr |
A |
T |
1: 119,949,970 (GRCm39) |
E53V |
probably damaging |
Het |
Srcin1 |
T |
C |
11: 97,442,519 (GRCm39) |
D103G |
probably benign |
Het |
St3gal3 |
T |
C |
4: 117,814,633 (GRCm39) |
Q220R |
|
Het |
Stk40 |
G |
A |
4: 126,019,483 (GRCm39) |
E86K |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,662,005 (GRCm39) |
I235F |
possibly damaging |
Het |
Terf2ip |
T |
C |
8: 112,738,280 (GRCm39) |
V56A |
possibly damaging |
Het |
Thsd7b |
A |
G |
1: 130,030,890 (GRCm39) |
N1075S |
probably benign |
Het |
Trak1 |
A |
G |
9: 121,245,278 (GRCm39) |
Y51C |
probably benign |
Het |
Trav16n |
T |
A |
14: 53,588,859 (GRCm39) |
V45E |
probably benign |
Het |
Ttc6 |
T |
C |
12: 57,622,837 (GRCm39) |
S79P |
probably damaging |
Het |
Unc79 |
C |
T |
12: 103,029,449 (GRCm39) |
T484M |
probably damaging |
Het |
Usp49 |
T |
C |
17: 47,983,796 (GRCm39) |
V267A |
possibly damaging |
Het |
Vldlr |
T |
A |
19: 27,216,004 (GRCm39) |
D305E |
possibly damaging |
Het |
Vmn1r226 |
G |
T |
17: 20,908,011 (GRCm39) |
C81F |
probably damaging |
Het |
Vmn1r73 |
T |
C |
7: 11,490,824 (GRCm39) |
V214A |
probably damaging |
Het |
Vmn2r5 |
T |
C |
3: 64,411,671 (GRCm39) |
N299S |
probably damaging |
Het |
Wdr90 |
T |
C |
17: 26,070,480 (GRCm39) |
D1105G |
probably benign |
Het |
Zbtb38 |
A |
G |
9: 96,569,480 (GRCm39) |
S535P |
probably damaging |
Het |
Zfp329 |
T |
C |
7: 12,544,826 (GRCm39) |
I233V |
probably damaging |
Het |
Zfp579 |
T |
A |
7: 4,997,582 (GRCm39) |
T110S |
probably benign |
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 |
|
R1061:Vwa3b
|
UTSW |
1 |
37,196,511 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
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'- GTGTGCCTATGTGACCTCTAAG -3'
(R):5'- AGAACCTCTGGAGAGCACAC -3'
Sequencing Primer
(F):5'- CCATTTAGGGGTCACAAATCAG -3'
(R):5'- GACAGACTCAGAAGTGCTACTTGTC -3'
|
Posted On |
2019-06-26 |