Incidental Mutation 'R5356:Vwa3b'
| ID |
424069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3b
|
| Ensembl Gene |
ENSMUSG00000050122 |
| Gene Name |
von Willebrand factor A domain containing 3B |
| Synonyms |
A230074B11Rik, 4921511C04Rik |
| MMRRC Submission |
042935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5356 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37153664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 502
(I502T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
|
| AlphaFold |
A0A571BE33 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027289
AA Change: I502T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: I502T
| 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 |
noncoding transcript
Transcript: ENSMUST00000194048
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
C |
T |
3: 37,119,405 (GRCm39) |
T162I |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Amn1 |
T |
C |
6: 149,068,392 (GRCm39) |
I205M |
possibly damaging |
Het |
| Ankrd50 |
A |
C |
3: 38,510,334 (GRCm39) |
S678A |
probably damaging |
Het |
| Atg13 |
G |
A |
2: 91,522,811 (GRCm39) |
R78* |
probably null |
Het |
| Bmper |
T |
G |
9: 23,285,157 (GRCm39) |
F235L |
probably benign |
Het |
| Btn2a2 |
C |
T |
13: 23,667,045 (GRCm39) |
V187I |
probably benign |
Het |
| Cabs1 |
G |
A |
5: 88,127,492 (GRCm39) |
V48I |
probably benign |
Het |
| Cacnb3 |
A |
G |
15: 98,539,498 (GRCm39) |
I212V |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cep162 |
T |
C |
9: 87,088,948 (GRCm39) |
E978G |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,199,993 (GRCm39) |
L3445Q |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,038,911 (GRCm39) |
L1067* |
probably null |
Het |
| Cyp20a1 |
G |
A |
1: 60,418,546 (GRCm39) |
V329I |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,274,712 (GRCm39) |
N288K |
probably benign |
Het |
| D430041D05Rik |
T |
G |
2: 104,085,754 (GRCm39) |
T932P |
probably damaging |
Het |
| Dlk1 |
T |
A |
12: 109,421,447 (GRCm39) |
C54S |
probably damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| Entpd6 |
T |
A |
2: 150,612,303 (GRCm39) |
F416L |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,293,602 (GRCm39) |
T257A |
probably benign |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,596 (GRCm39) |
S182T |
probably damaging |
Het |
| Glra3 |
A |
T |
8: 56,393,936 (GRCm39) |
I16F |
probably benign |
Het |
| Gm11437 |
C |
A |
11: 84,043,513 (GRCm39) |
L259F |
possibly damaging |
Het |
| Gorasp1 |
A |
T |
9: 119,757,024 (GRCm39) |
L386Q |
probably damaging |
Het |
| Gpsm1 |
T |
C |
2: 26,230,574 (GRCm39) |
V508A |
possibly damaging |
Het |
| Gstm1 |
T |
A |
3: 107,920,052 (GRCm39) |
I180F |
probably benign |
Het |
| Hc |
T |
C |
2: 34,885,007 (GRCm39) |
D1400G |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,295,052 (GRCm39) |
V3422A |
possibly damaging |
Het |
| Map3k4 |
A |
G |
17: 12,466,195 (GRCm39) |
V1128A |
possibly damaging |
Het |
| Mboat2 |
G |
C |
12: 25,007,572 (GRCm39) |
V363L |
probably benign |
Het |
| Mgat3 |
A |
G |
15: 80,095,811 (GRCm39) |
I213V |
possibly damaging |
Het |
| Mgat3 |
A |
G |
15: 80,096,655 (GRCm39) |
N494S |
probably damaging |
Het |
| Mtf2 |
A |
T |
5: 108,254,476 (GRCm39) |
T426S |
possibly damaging |
Het |
| Muc3a |
T |
C |
5: 137,245,021 (GRCm39) |
I151V |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,191,219 (GRCm39) |
E874G |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,389,192 (GRCm39) |
G2030R |
probably damaging |
Het |
| Ncdn |
T |
C |
4: 126,641,021 (GRCm39) |
Y493C |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,263,112 (GRCm39) |
F441L |
probably damaging |
Het |
| Ndc80 |
A |
T |
17: 71,828,103 (GRCm39) |
S75T |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,364,282 (GRCm39) |
F1571L |
possibly damaging |
Het |
| Nherf2 |
A |
G |
17: 24,860,945 (GRCm39) |
V88A |
probably damaging |
Het |
| Nme8 |
A |
G |
13: 19,836,469 (GRCm39) |
F236L |
probably damaging |
Het |
| Nsmce4a |
C |
A |
7: 130,138,778 (GRCm39) |
V289L |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 59,208,056 (GRCm39) |
D634V |
probably damaging |
Het |
| Pcsk6 |
G |
C |
7: 65,620,340 (GRCm39) |
E479Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,812,551 (GRCm39) |
Q3828R |
probably damaging |
Het |
| Ptov1 |
T |
A |
7: 44,514,089 (GRCm39) |
T295S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,535 (GRCm39) |
M824T |
probably benign |
Het |
| Rbm6 |
T |
A |
9: 107,729,865 (GRCm39) |
H129L |
probably damaging |
Het |
| Rbm8a2 |
A |
G |
1: 175,806,255 (GRCm39) |
I74T |
possibly damaging |
Het |
| Ret |
A |
G |
6: 118,174,079 (GRCm39) |
S6P |
possibly damaging |
Het |
| Rspo3 |
A |
T |
10: 29,376,064 (GRCm39) |
C70* |
probably null |
Het |
| Sike1 |
C |
A |
3: 102,909,106 (GRCm39) |
A202D |
possibly damaging |
Het |
| Slco4c1 |
G |
T |
1: 96,759,835 (GRCm39) |
P499H |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,794,356 (GRCm39) |
|
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,954,723 (GRCm39) |
V98A |
probably benign |
Het |
| Tor4a |
T |
A |
2: 25,085,918 (GRCm39) |
|
probably null |
Het |
| Txlna |
A |
G |
4: 129,524,166 (GRCm39) |
F397S |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,027,040 (GRCm39) |
I581T |
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,115,158 (GRCm39) |
D164N |
probably benign |
Het |
| Xrcc6 |
A |
G |
15: 81,913,419 (GRCm39) |
T6A |
probably benign |
Het |
| Zfp524 |
T |
C |
7: 5,021,432 (GRCm39) |
V320A |
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 |
|
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'- AAAGAGCTTGGTGCCCACAG -3'
(R):5'- GCCAGTTCACACAGTTTCAC -3'
Sequencing Primer
(F):5'- GCCCACAGACTCTGTTTACTATGATG -3'
(R):5'- GCCAGTTCACACAGTTTCACTAATTG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation