Incidental Mutation 'R9011:Vwa3b'
| ID |
685609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3b
|
| Ensembl Gene |
ENSMUSG00000050122 |
| Gene Name |
von Willebrand factor A domain containing 3B |
| Synonyms |
A230074B11Rik, 4921511C04Rik |
| MMRRC Submission |
068841-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R9011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37154767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 517
(N517S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
|
| AlphaFold |
A0A571BE33 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027289
AA Change: N517S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
AA Change: N517S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| Actr10 |
A |
G |
12: 70,999,734 (GRCm39) |
T177A |
probably benign |
Het |
| Adgrb2 |
G |
A |
4: 129,916,111 (GRCm39) |
D1468N |
probably damaging |
Het |
| Aldh16a1 |
A |
G |
7: 44,794,951 (GRCm39) |
F506S |
probably damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,417,444 (GRCm39) |
M56K |
probably benign |
Het |
| Atxn7l2 |
T |
C |
3: 108,114,756 (GRCm39) |
S97G |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,306,663 (GRCm39) |
G1905D |
probably benign |
Het |
| Ccdc192 |
A |
T |
18: 57,800,376 (GRCm39) |
I176F |
possibly damaging |
Het |
| Ccne1 |
A |
T |
7: 37,806,085 (GRCm39) |
M13K |
probably benign |
Het |
| Chil3 |
A |
T |
3: 106,057,031 (GRCm39) |
Y304* |
probably null |
Het |
| Chst15 |
A |
G |
7: 131,872,246 (GRCm39) |
F12L |
probably benign |
Het |
| Cldn23 |
T |
A |
8: 36,292,826 (GRCm39) |
I221F |
probably damaging |
Het |
| Col16a1 |
T |
C |
4: 129,946,652 (GRCm39) |
F92L |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,710,057 (GRCm39) |
|
probably benign |
Het |
| Cyp2w1 |
T |
A |
5: 139,340,314 (GRCm39) |
V199E |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,997,240 (GRCm39) |
Y512C |
probably damaging |
Het |
| Dop1a |
A |
T |
9: 86,397,396 (GRCm39) |
H900L |
probably damaging |
Het |
| Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
| Eif3l |
T |
G |
15: 78,973,725 (GRCm39) |
M380R |
possibly damaging |
Het |
| Fer1l5 |
A |
T |
1: 36,441,601 (GRCm39) |
K605N |
probably damaging |
Het |
| Fgfbp1 |
T |
G |
5: 44,136,627 (GRCm39) |
N222H |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,690,233 (GRCm39) |
L273P |
possibly damaging |
Het |
| Fzd10 |
C |
G |
5: 128,679,369 (GRCm39) |
P363R |
probably damaging |
Het |
| Gabpa |
A |
G |
16: 84,638,209 (GRCm39) |
|
probably benign |
Het |
| Garin4 |
A |
C |
1: 190,895,258 (GRCm39) |
S462A |
probably benign |
Het |
| Gfi1 |
A |
G |
5: 107,873,425 (GRCm39) |
|
probably null |
Het |
| Ift57 |
A |
G |
16: 49,579,777 (GRCm39) |
Q316R |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,662,909 (GRCm39) |
F542L |
probably benign |
Het |
| Kif28 |
G |
C |
1: 179,529,984 (GRCm39) |
L726V |
possibly damaging |
Het |
| Krt90 |
A |
G |
15: 101,471,235 (GRCm39) |
I9T |
probably benign |
Het |
| Lefty1 |
A |
T |
1: 180,765,241 (GRCm39) |
M270L |
probably benign |
Het |
| Mipol1 |
A |
T |
12: 57,503,865 (GRCm39) |
E344D |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,862,213 (GRCm39) |
M737K |
possibly damaging |
Het |
| Mrpl14 |
A |
G |
17: 46,009,330 (GRCm39) |
N143S |
probably benign |
Het |
| Nelfcd |
T |
A |
2: 174,268,717 (GRCm39) |
H589Q |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,131,757 (GRCm39) |
M366V |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,479 (GRCm39) |
S65T |
probably damaging |
Het |
| Platr25 |
T |
A |
13: 62,848,280 (GRCm39) |
H194L |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,102,284 (GRCm39) |
I127T |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,652,314 (GRCm39) |
|
probably benign |
Het |
| Rarb |
A |
G |
14: 16,435,140 (GRCm38) |
V302A |
probably damaging |
Het |
| Rc3h1 |
A |
C |
1: 160,792,673 (GRCm39) |
T1037P |
probably damaging |
Het |
| Rnaset2a |
G |
A |
17: 8,356,760 (GRCm39) |
P102S |
probably damaging |
Het |
| Scn10a |
A |
C |
9: 119,459,160 (GRCm39) |
S1166R |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,352,170 (GRCm39) |
M380T |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,923,519 (GRCm39) |
I75V |
probably benign |
Het |
| Slc35f5 |
G |
A |
1: 125,490,050 (GRCm39) |
A27T |
probably benign |
Het |
| Slc45a3 |
G |
A |
1: 131,905,714 (GRCm39) |
V246I |
probably benign |
Het |
| Slc7a14 |
G |
A |
3: 31,278,345 (GRCm39) |
T420I |
probably damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,818,493 (GRCm39) |
T296A |
probably benign |
Het |
| Smyd2 |
G |
A |
1: 189,628,833 (GRCm39) |
H157Y |
probably damaging |
Het |
| Spata32 |
T |
A |
11: 103,100,677 (GRCm39) |
H30L |
probably benign |
Het |
| Srarp |
T |
C |
4: 141,160,344 (GRCm39) |
E163G |
possibly damaging |
Het |
| Tcstv2a |
A |
G |
13: 120,725,746 (GRCm39) |
T137A |
probably damaging |
Het |
| Tmed8 |
A |
G |
12: 87,220,938 (GRCm39) |
I216T |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,562,186 (GRCm39) |
L697Q |
probably damaging |
Het |
| Tra2b |
G |
A |
16: 22,065,940 (GRCm39) |
R286C |
unknown |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,540,506 (GRCm39) |
D34160G |
possibly damaging |
Het |
| Umad1 |
T |
A |
6: 8,373,931 (GRCm39) |
C36* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,638,676 (GRCm39) |
T4029S |
probably damaging |
Het |
| Usp9y |
C |
T |
Y: 1,316,978 (GRCm39) |
S1857N |
probably benign |
Het |
| Zfp583 |
G |
A |
7: 6,319,627 (GRCm39) |
P462S |
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 |
|
|
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 |
|
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'- TCAGTAGAGGCCAAACATCCAG -3'
(R):5'- TTCATGTATAGACACCGCCTG -3'
Sequencing Primer
(F):5'- GCCAAACATCCAGACTATATCATTTG -3'
(R):5'- GGTGCCCAAGCCATTTCTCAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation