Incidental Mutation 'R7282:Vwa3a'
| ID |
565734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7282 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
120338541-120404965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120385688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 677
(I677L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000165055]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000168430]
[ENSMUST00000168600]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033180
AA Change: I677L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: I677L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_3
|
142 |
297 |
6.3e-30 |
PFAM |
|
Pfam:VWA_3
|
483 |
634 |
1.2e-17 |
PFAM |
|
VWA
|
921 |
1092 |
1.89e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165055
AA Change: I137L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000129672
Gene: ENSMUSG00000030889
AA Change: I137L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:VWA
|
1 |
162 |
1e-94 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166083
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166668
AA Change: I677L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: I677L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_3
|
142 |
297 |
1.3e-28 |
PFAM |
|
Pfam:VWA_3
|
483 |
633 |
5.2e-17 |
PFAM |
|
VWA
|
921 |
1092 |
1.89e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167213
AA Change: I677L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: I677L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_3
|
142 |
297 |
1.3e-28 |
PFAM |
|
Pfam:VWA_3
|
483 |
633 |
5.2e-17 |
PFAM |
|
VWA
|
921 |
1092 |
1.89e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168430
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168600
|
| SMART Domains |
Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_3
|
142 |
297 |
8.3e-29 |
PFAM |
|
Pfam:VWA_3
|
483 |
609 |
5.3e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
C |
A |
11: 58,316,582 (GRCm39) |
D187E |
probably damaging |
Het |
| Abl2 |
T |
C |
1: 156,457,630 (GRCm39) |
Y299H |
probably damaging |
Het |
| Acsl3 |
T |
A |
1: 78,659,709 (GRCm39) |
N120K |
probably damaging |
Het |
| Aldh1a1 |
A |
G |
19: 20,606,434 (GRCm39) |
K255R |
possibly damaging |
Het |
| Baz2b |
C |
T |
2: 59,750,781 (GRCm39) |
R1205H |
probably benign |
Het |
| Btbd8 |
G |
T |
5: 107,655,062 (GRCm39) |
V954L |
probably benign |
Het |
| Btbd8 |
A |
G |
5: 107,658,371 (GRCm39) |
D1647G |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,197,387 (GRCm39) |
S1350P |
probably benign |
Het |
| Cecr2 |
A |
T |
6: 120,738,582 (GRCm39) |
N325I |
|
Het |
| Cep120 |
C |
T |
18: 53,873,161 (GRCm39) |
A57T |
probably damaging |
Het |
| Chst8 |
T |
C |
7: 34,447,628 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
T |
6: 106,502,421 (GRCm39) |
I393F |
probably damaging |
Het |
| Crocc |
T |
C |
4: 140,749,652 (GRCm39) |
D1494G |
probably damaging |
Het |
| Cwc25 |
T |
C |
11: 97,638,832 (GRCm39) |
E364G |
possibly damaging |
Het |
| Dnah7a |
C |
A |
1: 53,724,059 (GRCm39) |
|
probably null |
Het |
| Drg2 |
A |
G |
11: 60,345,519 (GRCm39) |
E5G |
probably benign |
Het |
| Ehd4 |
T |
C |
2: 119,921,729 (GRCm39) |
H509R |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,650,186 (GRCm39) |
N565I |
probably damaging |
Het |
| Evi2a |
G |
T |
11: 79,418,249 (GRCm39) |
N120K |
probably benign |
Het |
| Faim |
A |
G |
9: 98,874,179 (GRCm39) |
T2A |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,833 (GRCm39) |
N907S |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,087,091 (GRCm39) |
V836A |
unknown |
Het |
| Fosb |
T |
C |
7: 19,039,113 (GRCm39) |
I224V |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,338,660 (GRCm39) |
T318S |
probably damaging |
Het |
| Gm9972 |
G |
A |
11: 42,927,631 (GRCm39) |
G93R |
unknown |
Het |
| Gtf2a1 |
A |
T |
12: 91,534,609 (GRCm39) |
I215N |
possibly damaging |
Het |
| Hs3st3b1 |
A |
G |
11: 63,812,397 (GRCm39) |
V106A |
probably benign |
Het |
| Igkv19-93 |
T |
C |
6: 68,713,485 (GRCm39) |
D48G |
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,201,443 (GRCm39) |
W31R |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,751,985 (GRCm39) |
W1995R |
unknown |
Het |
| Lama3 |
G |
T |
18: 12,572,449 (GRCm39) |
Q551H |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,588 (GRCm39) |
Y453C |
probably damaging |
Het |
| Lbhd2 |
G |
A |
12: 111,376,724 (GRCm39) |
R57H |
probably damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,969,271 (GRCm39) |
V384A |
probably damaging |
Het |
| Lgsn |
T |
G |
1: 31,242,452 (GRCm39) |
L178R |
probably damaging |
Het |
| Lhcgr |
C |
T |
17: 89,065,811 (GRCm39) |
V193I |
probably benign |
Het |
| Lta4h |
T |
C |
10: 93,289,373 (GRCm39) |
M1T |
probably null |
Het |
| Ly6l |
T |
C |
15: 75,321,345 (GRCm39) |
S14P |
probably damaging |
Het |
| Met |
C |
A |
6: 17,547,011 (GRCm39) |
C881* |
probably null |
Het |
| Mettl21e |
A |
T |
1: 44,249,399 (GRCm39) |
Y86N |
probably damaging |
Het |
| Mgam |
A |
T |
6: 40,633,446 (GRCm39) |
N251Y |
possibly damaging |
Het |
| Mgam |
A |
G |
6: 40,740,045 (GRCm39) |
T1673A |
probably benign |
Het |
| Mmp27 |
T |
A |
9: 7,578,231 (GRCm39) |
V357D |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,306,481 (GRCm39) |
E740G |
|
Het |
| Myoc |
C |
A |
1: 162,476,413 (GRCm39) |
S372R |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,097,104 (GRCm39) |
M1358K |
|
Het |
| Nol6 |
A |
G |
4: 41,119,468 (GRCm39) |
S613P |
probably benign |
Het |
| Nuggc |
T |
A |
14: 65,855,072 (GRCm39) |
I334N |
probably damaging |
Het |
| Nxnl2 |
C |
T |
13: 51,325,542 (GRCm39) |
P62S |
probably damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,764,067 (GRCm39) |
H51Y |
possibly damaging |
Het |
| Olfml1 |
T |
A |
7: 107,189,530 (GRCm39) |
D198E |
possibly damaging |
Het |
| Or2t26 |
A |
C |
11: 49,039,945 (GRCm39) |
N287T |
probably damaging |
Het |
| Ovch2 |
C |
T |
7: 107,393,577 (GRCm39) |
R183H |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,937,798 (GRCm39) |
L1516Q |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,451 (GRCm39) |
N237S |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,507,543 (GRCm39) |
V2448A |
possibly damaging |
Het |
| Rexo5 |
C |
T |
7: 119,417,636 (GRCm39) |
T212I |
probably damaging |
Het |
| Rgl2 |
C |
T |
17: 34,152,403 (GRCm39) |
R367W |
probably damaging |
Het |
| Rnf213 |
T |
G |
11: 119,328,818 (GRCm39) |
I2030S |
|
Het |
| Rtf1 |
C |
T |
2: 119,505,580 (GRCm39) |
A11V |
unknown |
Het |
| Setdb1 |
T |
G |
3: 95,245,985 (GRCm39) |
T647P |
probably damaging |
Het |
| Shisa6 |
G |
C |
11: 66,393,480 (GRCm39) |
P272R |
possibly damaging |
Het |
| Slc25a54 |
G |
T |
3: 109,023,817 (GRCm39) |
G471* |
probably null |
Het |
| Slc30a1 |
A |
G |
1: 191,641,544 (GRCm39) |
T397A |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,281,302 (GRCm39) |
F336S |
possibly damaging |
Het |
| Slitrk3 |
C |
T |
3: 72,957,798 (GRCm39) |
V325I |
possibly damaging |
Het |
| Sptan1 |
A |
G |
2: 29,876,941 (GRCm39) |
Y361C |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,984 (GRCm39) |
D1747G |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,956,253 (GRCm39) |
E638G |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,411,614 (GRCm39) |
D1074G |
probably benign |
Het |
| Tecrl |
G |
A |
5: 83,502,754 (GRCm39) |
H32Y |
probably benign |
Het |
| Tgm3 |
T |
A |
2: 129,866,481 (GRCm39) |
M133K |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,880,685 (GRCm39) |
F195S |
probably damaging |
Het |
| Tmem82 |
T |
C |
4: 141,342,261 (GRCm39) |
I314V |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,043,327 (GRCm39) |
E555G |
probably damaging |
Het |
| Ubn2 |
A |
T |
6: 38,429,811 (GRCm39) |
K176* |
probably null |
Het |
| Ucp1 |
G |
A |
8: 84,020,531 (GRCm39) |
G114R |
probably benign |
Het |
| Unc5c |
A |
G |
3: 141,383,751 (GRCm39) |
D43G |
probably damaging |
Het |
| Vmn2r3 |
C |
T |
3: 64,168,825 (GRCm39) |
V571M |
possibly damaging |
Het |
| Wdr48 |
T |
C |
9: 119,740,147 (GRCm39) |
S319P |
probably damaging |
Het |
|
| Other mutations in Vwa3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01584:Vwa3a
|
APN |
7 |
120,383,197 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01807:Vwa3a
|
APN |
7 |
120,374,729 (GRCm39) |
splice site |
probably null |
|
|
IGL02850:Vwa3a
|
APN |
7 |
120,372,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03253:Vwa3a
|
APN |
7 |
120,378,092 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4812001:Vwa3a
|
UTSW |
7 |
120,375,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Vwa3a
|
UTSW |
7 |
120,379,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Vwa3a
|
UTSW |
7 |
120,374,603 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1145:Vwa3a
|
UTSW |
7 |
120,392,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1145:Vwa3a
|
UTSW |
7 |
120,392,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1306:Vwa3a
|
UTSW |
7 |
120,399,613 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1355:Vwa3a
|
UTSW |
7 |
120,383,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1412:Vwa3a
|
UTSW |
7 |
120,379,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Vwa3a
|
UTSW |
7 |
120,367,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Vwa3a
|
UTSW |
7 |
120,367,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Vwa3a
|
UTSW |
7 |
120,367,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Vwa3a
|
UTSW |
7 |
120,379,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Vwa3a
|
UTSW |
7 |
120,403,254 (GRCm39) |
splice site |
probably null |
|
|
R1717:Vwa3a
|
UTSW |
7 |
120,392,609 (GRCm39) |
missense |
probably benign |
|
|
R1834:Vwa3a
|
UTSW |
7 |
120,389,359 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1912:Vwa3a
|
UTSW |
7 |
120,394,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Vwa3a
|
UTSW |
7 |
120,379,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Vwa3a
|
UTSW |
7 |
120,358,177 (GRCm39) |
missense |
probably null |
0.00 |
|
R2034:Vwa3a
|
UTSW |
7 |
120,381,868 (GRCm39) |
nonsense |
probably null |
|
|
R2059:Vwa3a
|
UTSW |
7 |
120,358,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2120:Vwa3a
|
UTSW |
7 |
120,391,641 (GRCm39) |
missense |
probably benign |
|
|
R2408:Vwa3a
|
UTSW |
7 |
120,372,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3423:Vwa3a
|
UTSW |
7 |
120,398,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3744:Vwa3a
|
UTSW |
7 |
120,351,817 (GRCm39) |
missense |
probably benign |
|
|
R3816:Vwa3a
|
UTSW |
7 |
120,399,602 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3849:Vwa3a
|
UTSW |
7 |
120,361,687 (GRCm39) |
nonsense |
probably null |
|
|
R3904:Vwa3a
|
UTSW |
7 |
120,358,099 (GRCm39) |
missense |
probably benign |
|
|
R4031:Vwa3a
|
UTSW |
7 |
120,367,455 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4408:Vwa3a
|
UTSW |
7 |
120,378,149 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4628:Vwa3a
|
UTSW |
7 |
120,392,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4629:Vwa3a
|
UTSW |
7 |
120,392,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4652:Vwa3a
|
UTSW |
7 |
120,378,138 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4884:Vwa3a
|
UTSW |
7 |
120,390,924 (GRCm39) |
missense |
probably benign |
|
|
R4948:Vwa3a
|
UTSW |
7 |
120,375,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5112:Vwa3a
|
UTSW |
7 |
120,383,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Vwa3a
|
UTSW |
7 |
120,389,365 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5386:Vwa3a
|
UTSW |
7 |
120,389,365 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5579:Vwa3a
|
UTSW |
7 |
120,367,396 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5587:Vwa3a
|
UTSW |
7 |
120,379,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Vwa3a
|
UTSW |
7 |
120,389,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6102:Vwa3a
|
UTSW |
7 |
120,375,361 (GRCm39) |
splice site |
probably null |
|
|
R6239:Vwa3a
|
UTSW |
7 |
120,393,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6279:Vwa3a
|
UTSW |
7 |
120,381,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6298:Vwa3a
|
UTSW |
7 |
120,394,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6300:Vwa3a
|
UTSW |
7 |
120,381,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6336:Vwa3a
|
UTSW |
7 |
120,361,646 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6907:Vwa3a
|
UTSW |
7 |
120,391,804 (GRCm39) |
unclassified |
probably benign |
|
|
R7135:Vwa3a
|
UTSW |
7 |
120,372,253 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7215:Vwa3a
|
UTSW |
7 |
120,394,853 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7351:Vwa3a
|
UTSW |
7 |
120,375,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7406:Vwa3a
|
UTSW |
7 |
120,378,138 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7557:Vwa3a
|
UTSW |
7 |
120,394,841 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7612:Vwa3a
|
UTSW |
7 |
120,351,838 (GRCm39) |
missense |
probably null |
0.47 |
|
R7699:Vwa3a
|
UTSW |
7 |
120,351,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Vwa3a
|
UTSW |
7 |
120,372,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Vwa3a
|
UTSW |
7 |
120,398,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8730:Vwa3a
|
UTSW |
7 |
120,381,910 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8768:Vwa3a
|
UTSW |
7 |
120,375,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8941:Vwa3a
|
UTSW |
7 |
120,375,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9116:Vwa3a
|
UTSW |
7 |
120,366,470 (GRCm39) |
missense |
|
|
|
R9134:Vwa3a
|
UTSW |
7 |
120,377,659 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9264:Vwa3a
|
UTSW |
7 |
120,374,687 (GRCm39) |
missense |
probably benign |
|
|
R9450:Vwa3a
|
UTSW |
7 |
120,403,253 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9464:Vwa3a
|
UTSW |
7 |
120,385,682 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9792:Vwa3a
|
UTSW |
7 |
120,383,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Vwa3a
|
UTSW |
7 |
120,383,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7732:Vwa3a
|
UTSW |
7 |
120,378,172 (GRCm39) |
splice site |
probably benign |
|
|
X0019:Vwa3a
|
UTSW |
7 |
120,367,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Vwa3a
|
UTSW |
7 |
120,358,356 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCAGTCCACTGTGATCC -3'
(R):5'- GTGCCATTTACAATAAGCATCCAAC -3'
Sequencing Primer
(F):5'- AGTCCACTGTGATCCCATCTTG -3'
(R):5'- TTCCCCAGCTCTCAAGGGATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation