Incidental Mutation 'R8758:Vwa3b'
| ID |
671722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3b
|
| Ensembl Gene |
ENSMUSG00000050122 |
| Gene Name |
von Willebrand factor A domain containing 3B |
| Synonyms |
A230074B11Rik, 4921511C04Rik |
| MMRRC Submission |
068598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R8758 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37176873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 40
(D40G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
G |
A |
4: 39,450,811 (GRCm39) |
D6N |
probably benign |
Het |
| AC157566.4 |
T |
C |
15: 76,418,382 (GRCm39) |
I42M |
probably benign |
Het |
| Amer2 |
C |
T |
14: 60,616,326 (GRCm39) |
R174C |
probably damaging |
Het |
| Arl8a |
A |
T |
1: 135,082,189 (GRCm39) |
D139V |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,469,593 (GRCm39) |
Y2525H |
|
Het |
| Cwc22 |
T |
C |
2: 77,747,441 (GRCm39) |
E424G |
possibly damaging |
Het |
| D930048N14Rik |
A |
G |
11: 51,544,568 (GRCm39) |
T80A |
unknown |
Het |
| Ddx25 |
T |
A |
9: 35,453,300 (GRCm39) |
E483D |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,838,231 (GRCm39) |
E1057D |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,949,555 (GRCm39) |
R429Q |
|
Het |
| Dzip3 |
T |
C |
16: 48,798,300 (GRCm39) |
Y135C |
probably damaging |
Het |
| Evi5l |
G |
T |
8: 4,255,860 (GRCm39) |
A618S |
probably benign |
Het |
| Fibp |
A |
G |
19: 5,514,970 (GRCm39) |
D348G |
possibly damaging |
Het |
| Gimd1 |
T |
A |
3: 132,340,799 (GRCm39) |
L105H |
probably damaging |
Het |
| Glra1 |
T |
A |
11: 55,418,191 (GRCm39) |
I268F |
possibly damaging |
Het |
| Gm30191 |
A |
G |
4: 133,977,099 (GRCm39) |
T104A |
probably benign |
Het |
| Gm49359 |
A |
T |
13: 62,602,150 (GRCm39) |
I350K |
possibly damaging |
Het |
| Gpm6a |
T |
C |
8: 55,511,833 (GRCm39) |
S236P |
probably damaging |
Het |
| Igkv4-74 |
AG |
A |
6: 69,162,311 (GRCm39) |
|
probably null |
Het |
| Ikzf1 |
A |
G |
11: 11,711,359 (GRCm39) |
S198G |
probably benign |
Het |
| Kcna4 |
T |
A |
2: 107,126,494 (GRCm39) |
D409E |
probably damaging |
Het |
| Lipt2 |
GGCGCCCGCGCGCG |
GGCG |
7: 99,808,888 (GRCm39) |
|
probably null |
Het |
| Mgam |
T |
A |
6: 40,705,977 (GRCm39) |
D15E |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,964,193 (GRCm39) |
D1065G |
possibly damaging |
Het |
| Plxnc1 |
A |
C |
10: 94,758,607 (GRCm39) |
V363G |
possibly damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,384,678 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ranbp1 |
T |
C |
16: 18,059,659 (GRCm39) |
D130G |
probably damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,310,451 (GRCm39) |
Q283L |
probably benign |
Het |
| Rph3a |
A |
T |
5: 121,097,365 (GRCm39) |
H250Q |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Skil |
C |
T |
3: 31,172,686 (GRCm39) |
A605V |
probably damaging |
Het |
| Slc28a3 |
T |
C |
13: 58,720,424 (GRCm39) |
T312A |
probably benign |
Het |
| Ssh2 |
T |
A |
11: 77,344,843 (GRCm39) |
C943S |
probably benign |
Het |
| Tgfbi |
C |
T |
13: 56,779,894 (GRCm39) |
A481V |
probably damaging |
Het |
| Tgfbr3 |
G |
A |
5: 107,297,750 (GRCm39) |
P217S |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,954,721 (GRCm39) |
W99R |
probably benign |
Het |
| Tmx1 |
A |
G |
12: 70,502,788 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Ube3b |
A |
T |
5: 114,553,261 (GRCm39) |
|
probably benign |
Het |
| Vmn2r57 |
G |
T |
7: 41,078,163 (GRCm39) |
N98K |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,311,083 (GRCm39) |
|
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 |
|
|
|
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 |
|
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'- GCTCAGGTCTTCAAGTCTGTAG -3'
(R):5'- CTTGCCAGGAATGAGCAAGAC -3'
Sequencing Primer
(F):5'- CTCAGGTCTTCAAGTCTGTAGTGTTC -3'
(R):5'- GGGTTTTAAAAGGACTCCCATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation