Incidental Mutation 'R7135:Vwa3a'
| ID |
553000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
045247-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7135 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
120338541-120404965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120372253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 276
(D276E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000168600]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033180
AA Change: D276E
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: D276E
| 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 |
possibly damaging
Transcript: ENSMUST00000166668
AA Change: D276E
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: D276E
| 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 |
possibly damaging
Transcript: ENSMUST00000167213
AA Change: D276E
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: D276E
| 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: ENSMUST00000168600
AA Change: D276E
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: D276E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_3
|
142 |
297 |
8.3e-29 |
PFAM |
|
Pfam:VWA_3
|
483 |
609 |
5.3e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.3410 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (83/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,819,887 (GRCm39) |
Y221* |
probably null |
Het |
| AC166344.1 |
T |
A |
14: 43,158,245 (GRCm39) |
F97I |
|
Het |
| Ankmy2 |
T |
C |
12: 36,246,311 (GRCm39) |
S412P |
probably benign |
Het |
| Ap1s3 |
T |
C |
1: 79,586,919 (GRCm39) |
T144A |
probably benign |
Het |
| Armh2 |
T |
C |
13: 24,925,489 (GRCm39) |
S78P |
probably benign |
Het |
| Asb3 |
T |
A |
11: 30,948,501 (GRCm39) |
L59* |
probably null |
Het |
| Asxl3 |
G |
T |
18: 22,650,758 (GRCm39) |
G916* |
probably null |
Het |
| Asxl3 |
G |
C |
18: 22,650,759 (GRCm39) |
G916A |
probably damaging |
Het |
| Birc2 |
A |
C |
9: 7,818,762 (GRCm39) |
F610V |
probably damaging |
Het |
| Camk4 |
G |
A |
18: 33,240,996 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,549,855 (GRCm39) |
S343P |
probably benign |
Het |
| Ccnk |
T |
A |
12: 108,152,734 (GRCm39) |
L17Q |
probably damaging |
Het |
| Cd59b |
G |
A |
2: 103,914,792 (GRCm39) |
W63* |
probably null |
Het |
| Chrm3 |
C |
T |
13: 9,927,837 (GRCm39) |
V400I |
probably benign |
Het |
| Crb1 |
C |
A |
1: 139,171,105 (GRCm39) |
V762F |
probably damaging |
Het |
| Cspp1 |
C |
T |
1: 10,159,161 (GRCm39) |
T529I |
possibly damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,446 (GRCm39) |
I71T |
possibly damaging |
Het |
| Cyb561 |
C |
A |
11: 105,826,393 (GRCm39) |
G90V |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,471,520 (GRCm39) |
D804E |
possibly damaging |
Het |
| Ddx31 |
G |
A |
2: 28,738,318 (GRCm39) |
V160I |
probably benign |
Het |
| Dgkg |
T |
C |
16: 22,319,132 (GRCm39) |
D643G |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
G |
14: 26,523,370 (GRCm39) |
I1953S |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,178,870 (GRCm39) |
W848R |
probably damaging |
Het |
| Dnah7c |
C |
T |
1: 46,572,368 (GRCm39) |
T947M |
probably damaging |
Het |
| Dnmt3c |
C |
A |
2: 153,556,872 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
T |
13: 38,363,049 (GRCm39) |
Y443F |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,227,959 (GRCm39) |
C1603* |
probably null |
Het |
| Faiml |
G |
T |
9: 99,116,496 (GRCm39) |
R65S |
probably benign |
Het |
| Gfpt2 |
T |
C |
11: 49,695,782 (GRCm39) |
I4T |
probably damaging |
Het |
| Gm10376 |
T |
A |
14: 42,867,950 (GRCm39) |
M179L |
probably benign |
Het |
| Gm4302 |
T |
A |
10: 100,177,589 (GRCm39) |
M291K |
unknown |
Het |
| Gnb1l |
T |
A |
16: 18,363,918 (GRCm39) |
D154E |
probably benign |
Het |
| Igkv10-94 |
T |
C |
6: 68,681,727 (GRCm39) |
R38G |
possibly damaging |
Het |
| Inmt |
A |
T |
6: 55,148,013 (GRCm39) |
Y205* |
probably null |
Het |
| Krba1 |
A |
G |
6: 48,393,233 (GRCm39) |
Q1049R |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,810,683 (GRCm39) |
C376S |
probably damaging |
Het |
| Lrrc52 |
T |
A |
1: 167,294,019 (GRCm39) |
I89F |
probably damaging |
Het |
| Map9 |
A |
T |
3: 82,270,765 (GRCm39) |
T110S |
probably benign |
Het |
| Mccc1 |
T |
C |
3: 36,049,967 (GRCm39) |
Y75C |
probably damaging |
Het |
| Mff |
T |
A |
1: 82,724,812 (GRCm39) |
L203* |
probably null |
Het |
| Micall1 |
C |
A |
15: 78,993,624 (GRCm39) |
D47E |
unknown |
Het |
| Mink1 |
T |
C |
11: 70,494,329 (GRCm39) |
F243S |
probably damaging |
Het |
| Mlycd |
C |
T |
8: 120,129,216 (GRCm39) |
R228W |
probably damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,465 (GRCm39) |
V370E |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,927 (GRCm39) |
E532G |
probably damaging |
Het |
| Nepn |
G |
A |
10: 52,267,815 (GRCm39) |
C27Y |
probably damaging |
Het |
| Ninl |
T |
C |
2: 150,797,524 (GRCm39) |
H592R |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,002,261 (GRCm39) |
M64T |
possibly damaging |
Het |
| Oprm1 |
A |
T |
10: 6,780,203 (GRCm39) |
I171F |
possibly damaging |
Het |
| Or4g16 |
T |
A |
2: 111,137,365 (GRCm39) |
F272I |
probably benign |
Het |
| Or5p60 |
T |
C |
7: 107,723,781 (GRCm39) |
K230E |
probably damaging |
Het |
| Pcbp1 |
A |
T |
6: 86,502,488 (GRCm39) |
M137K |
possibly damaging |
Het |
| Pcf11 |
A |
T |
7: 92,306,524 (GRCm39) |
S1215T |
probably benign |
Het |
| Pdlim5 |
A |
T |
3: 142,017,683 (GRCm39) |
|
probably null |
Het |
| Pecam1 |
T |
C |
11: 106,579,857 (GRCm39) |
I402V |
probably damaging |
Het |
| Pex12 |
T |
C |
11: 83,188,468 (GRCm39) |
T176A |
probably benign |
Het |
| Phf3 |
T |
C |
1: 30,870,190 (GRCm39) |
K286R |
possibly damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,760 (GRCm39) |
D153V |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,448,374 (GRCm39) |
|
probably null |
Het |
| Plekhn1 |
A |
G |
4: 156,307,792 (GRCm39) |
V378A |
probably benign |
Het |
| Pramel26 |
A |
T |
4: 143,537,233 (GRCm39) |
L366Q |
probably damaging |
Het |
| Ptprm |
A |
T |
17: 67,251,283 (GRCm39) |
D531E |
possibly damaging |
Het |
| Pum2 |
A |
T |
12: 8,778,952 (GRCm39) |
Q508L |
possibly damaging |
Het |
| Rad54l |
A |
G |
4: 115,963,027 (GRCm39) |
S324P |
probably damaging |
Het |
| Recql5 |
C |
T |
11: 115,821,498 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
T |
5: 22,181,594 (GRCm39) |
V1763D |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,418,391 (GRCm39) |
N907S |
possibly damaging |
Het |
| Scaf11 |
T |
A |
15: 96,318,209 (GRCm39) |
N452Y |
possibly damaging |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,639 (GRCm39) |
H45L |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,023 (GRCm39) |
T11A |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,447,059 (GRCm39) |
M189K |
possibly damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,344,270 (GRCm39) |
G10S |
probably null |
Het |
| Speer1j |
C |
T |
5: 11,555,198 (GRCm39) |
P83S |
probably damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,708,071 (GRCm39) |
L410P |
probably damaging |
Het |
| Sugct |
T |
C |
13: 17,476,594 (GRCm39) |
N297D |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,183,409 (GRCm39) |
I4132T |
probably benign |
Het |
| Teddm1b |
A |
T |
1: 153,750,912 (GRCm39) |
L240F |
probably damaging |
Het |
| Tlr5 |
C |
A |
1: 182,803,088 (GRCm39) |
D797E |
possibly damaging |
Het |
| Tmprss13 |
G |
T |
9: 45,249,643 (GRCm39) |
G327C |
probably damaging |
Het |
| Tnrc18 |
G |
T |
5: 142,773,572 (GRCm39) |
A419D |
|
Het |
| Ttc28 |
T |
C |
5: 111,427,873 (GRCm39) |
Y1790H |
probably damaging |
Het |
| Vmn1r125 |
T |
G |
7: 21,006,327 (GRCm39) |
M75R |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,063,303 (GRCm39) |
V1322M |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,229,830 (GRCm39) |
S872P |
possibly damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,559,161 (GRCm39) |
S357P |
unknown |
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 |
|
|
R7215:Vwa3a
|
UTSW |
7 |
120,394,853 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7282:Vwa3a
|
UTSW |
7 |
120,385,688 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- ACCATTTTGACCTGGGATGTTC -3'
(R):5'- CAAGGGCATCTGTGAGGTTCTTC -3'
Sequencing Primer
(F):5'- TCACAGCACAGTTTCAGTGG -3'
(R):5'- TTCTTCAGAACGGCCTGGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation