Incidental Mutation 'R0035:Vwa3b'
| ID |
19383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3b
|
| Ensembl Gene |
ENSMUSG00000050122 |
| Gene Name |
von Willebrand factor A domain containing 3B |
| Synonyms |
A230074B11Rik, 4921511C04Rik |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
1 |
| Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37204770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 85
(V85I)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000169057
AA Change: V85I
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1866 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Aadacl4 |
A |
G |
4: 144,344,511 (GRCm39) |
T96A |
probably damaging |
Het |
| Abcb6 |
A |
G |
1: 75,151,651 (GRCm39) |
V473A |
possibly damaging |
Het |
| Abo |
C |
A |
2: 26,733,385 (GRCm39) |
K273N |
possibly damaging |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,571,217 (GRCm39) |
V1142D |
probably benign |
Het |
| Akna |
T |
A |
4: 63,300,682 (GRCm39) |
H591L |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Armh3 |
A |
T |
19: 45,879,679 (GRCm39) |
M558K |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,424,480 (GRCm39) |
V607A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,747 (GRCm39) |
Y2708* |
probably null |
Het |
| Cass4 |
C |
T |
2: 172,258,412 (GRCm39) |
P137S |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,807,508 (GRCm39) |
V31A |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
T |
A |
15: 92,129,969 (GRCm39) |
|
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,650,474 (GRCm39) |
G577R |
unknown |
Het |
| Defa21 |
T |
A |
8: 21,515,784 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Golph3 |
A |
T |
15: 12,339,776 (GRCm39) |
E96D |
probably damaging |
Het |
| Hspd1 |
A |
G |
1: 55,122,942 (GRCm39) |
V151A |
probably benign |
Het |
| Htr1f |
A |
C |
16: 64,746,860 (GRCm39) |
I144S |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il25 |
A |
G |
14: 55,170,553 (GRCm39) |
E42G |
probably damaging |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,106,306 (GRCm39) |
A149V |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,690,619 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,948,734 (GRCm39) |
D832E |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,571,846 (GRCm39) |
S292P |
probably damaging |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Me3 |
C |
A |
7: 89,500,967 (GRCm39) |
H559Q |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,817,541 (GRCm39) |
F574L |
probably damaging |
Het |
| Nos2 |
T |
C |
11: 78,836,553 (GRCm39) |
S431P |
probably damaging |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Nup214 |
T |
C |
2: 31,880,379 (GRCm39) |
|
probably null |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,395 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or5k1 |
A |
T |
16: 58,617,485 (GRCm39) |
C241* |
probably null |
Het |
| Osbp2 |
C |
T |
11: 3,667,997 (GRCm39) |
|
probably benign |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,364 (GRCm39) |
L781H |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,414,080 (GRCm39) |
I18N |
probably damaging |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,195,844 (GRCm39) |
K1289N |
probably benign |
Het |
| Tspyl3 |
A |
G |
2: 153,066,240 (GRCm39) |
S333P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,089,085 (GRCm39) |
V347I |
probably benign |
Het |
| Usp17le |
G |
T |
7: 104,418,269 (GRCm39) |
S291* |
probably null |
Het |
| Usp24 |
T |
A |
4: 106,225,224 (GRCm39) |
S619T |
probably benign |
Het |
| Vmn2r10 |
T |
C |
5: 109,145,467 (GRCm39) |
|
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,569,413 (GRCm39) |
E102G |
probably benign |
Het |
| Wwp1 |
A |
C |
4: 19,631,116 (GRCm39) |
I639R |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,551,101 (GRCm39) |
T1001A |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
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 |
|
|
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 |
|
|
|
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'- TGAGCCAGCACCATCTTCTGTCAC -3'
(R):5'- AGATCCGAGCCTTGAATCAGAGTCC -3'
Sequencing Primer
(F):5'- GTCACCTAACATCTGTTATTGGTTAC -3'
(R):5'- TTGAATCAGAGTCCAGGCATCTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation