Incidental Mutation 'R6336:Vwa3a'
| ID |
510761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
044490-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6336 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
120739318-120805742 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120762423 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 119
(E119G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000168600]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033180
AA Change: E119G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: E119G
| 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: E119G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: E119G
| 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: E119G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: E119G
| 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: E119G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: E119G
| 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: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,183,483 (GRCm38) |
P955Q |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,385,981 (GRCm38) |
N5827S |
probably benign |
Het |
| Akt3 |
T |
C |
1: 177,031,712 (GRCm38) |
D431G |
probably damaging |
Het |
| Anapc16 |
A |
T |
10: 59,988,829 (GRCm38) |
V76D |
possibly damaging |
Het |
| Ankib1 |
A |
T |
5: 3,700,377 (GRCm38) |
Y755* |
probably null |
Het |
| Ankrd6 |
A |
G |
4: 32,860,411 (GRCm38) |
S11P |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,099,164 (GRCm38) |
K917* |
probably null |
Het |
| Ccdc152 |
T |
C |
15: 3,301,129 (GRCm38) |
I21M |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,231,993 (GRCm38) |
E207G |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,806,478 (GRCm38) |
A499E |
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,358,669 (GRCm38) |
A383V |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,633,031 (GRCm38) |
V89A |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 32,964,507 (GRCm38) |
176 |
probably null |
Het |
| Dlgap1 |
T |
A |
17: 70,815,289 (GRCm38) |
D904E |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,372,085 (GRCm38) |
L849H |
probably damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,523,547 (GRCm38) |
|
probably null |
Het |
| Fer1l6 |
C |
A |
15: 58,559,232 (GRCm38) |
Y245* |
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,955,764 (GRCm38) |
Y109H |
probably damaging |
Het |
| Gabarapl1 |
A |
G |
6: 129,537,528 (GRCm38) |
D43G |
probably benign |
Het |
| Gabrb1 |
A |
C |
5: 72,029,898 (GRCm38) |
E178A |
possibly damaging |
Het |
| Gbp11 |
A |
G |
5: 105,325,489 (GRCm38) |
|
|
Het |
| Gm31371 |
A |
G |
8: 19,924,350 (GRCm38) |
K242E |
unknown |
Het |
| Grin3b |
C |
A |
10: 79,976,461 (GRCm38) |
A845E |
probably damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,727,361 (GRCm38) |
Y28C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,330,339 (GRCm38) |
T807M |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,888,755 (GRCm38) |
|
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,398,978 (GRCm38) |
T565K |
probably damaging |
Het |
| Map7d1 |
A |
G |
4: 126,236,682 (GRCm38) |
S412P |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,834,124 (GRCm38) |
|
probably null |
Het |
| Mto1 |
A |
T |
9: 78,473,835 (GRCm38) |
I73F |
probably damaging |
Het |
| Mtss2 |
G |
A |
8: 110,732,164 (GRCm38) |
D310N |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,834,070 (GRCm38) |
Y393H |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,459 (GRCm38) |
C112S |
probably damaging |
Het |
| Or2f1b |
T |
C |
6: 42,762,657 (GRCm38) |
S202P |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,514,542 (GRCm38) |
K301N |
probably damaging |
Het |
| Or4f47 |
A |
C |
2: 112,142,406 (GRCm38) |
I154L |
probably benign |
Het |
| Or4k49 |
A |
G |
2: 111,664,619 (GRCm38) |
H131R |
possibly damaging |
Het |
| Or52z1 |
T |
C |
7: 103,788,245 (GRCm38) |
T11A |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 99,126,090 (GRCm38) |
|
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,421,169 (GRCm38) |
|
probably null |
Het |
| Serpinb9d |
T |
C |
13: 33,194,694 (GRCm38) |
M41T |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,992,464 (GRCm38) |
|
probably null |
Het |
| Slc22a6 |
G |
A |
19: 8,622,130 (GRCm38) |
R331H |
probably benign |
Het |
| Spg11 |
G |
C |
2: 122,112,959 (GRCm38) |
|
probably null |
Het |
| Src |
T |
A |
2: 157,457,155 (GRCm38) |
V24E |
probably benign |
Het |
| Srgap1 |
A |
T |
10: 121,925,941 (GRCm38) |
Y101N |
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,334,308 (GRCm38) |
T110S |
probably benign |
Het |
| Whamm |
T |
A |
7: 81,591,764 (GRCm38) |
D274E |
probably damaging |
Het |
|
| Other mutations in Vwa3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01584:Vwa3a
|
APN |
7 |
120,783,974 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL01807:Vwa3a
|
APN |
7 |
120,775,506 (GRCm38) |
splice site |
probably null |
|
|
IGL02850:Vwa3a
|
APN |
7 |
120,773,292 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03253:Vwa3a
|
APN |
7 |
120,778,869 (GRCm38) |
missense |
probably benign |
0.03 |
|
PIT4812001:Vwa3a
|
UTSW |
7 |
120,776,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0026:Vwa3a
|
UTSW |
7 |
120,780,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0114:Vwa3a
|
UTSW |
7 |
120,775,380 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1145:Vwa3a
|
UTSW |
7 |
120,793,343 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1145:Vwa3a
|
UTSW |
7 |
120,793,343 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1306:Vwa3a
|
UTSW |
7 |
120,800,390 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R1355:Vwa3a
|
UTSW |
7 |
120,784,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1412:Vwa3a
|
UTSW |
7 |
120,780,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1466:Vwa3a
|
UTSW |
7 |
120,768,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1466:Vwa3a
|
UTSW |
7 |
120,768,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1584:Vwa3a
|
UTSW |
7 |
120,768,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1686:Vwa3a
|
UTSW |
7 |
120,780,148 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1710:Vwa3a
|
UTSW |
7 |
120,804,031 (GRCm38) |
splice site |
probably null |
|
|
R1717:Vwa3a
|
UTSW |
7 |
120,793,386 (GRCm38) |
missense |
probably benign |
|
|
R1834:Vwa3a
|
UTSW |
7 |
120,790,136 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1912:Vwa3a
|
UTSW |
7 |
120,795,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1970:Vwa3a
|
UTSW |
7 |
120,780,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1978:Vwa3a
|
UTSW |
7 |
120,758,954 (GRCm38) |
missense |
probably null |
0.00 |
|
R2034:Vwa3a
|
UTSW |
7 |
120,782,645 (GRCm38) |
nonsense |
probably null |
|
|
R2059:Vwa3a
|
UTSW |
7 |
120,758,949 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2120:Vwa3a
|
UTSW |
7 |
120,792,418 (GRCm38) |
missense |
probably benign |
|
|
R2408:Vwa3a
|
UTSW |
7 |
120,773,294 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3423:Vwa3a
|
UTSW |
7 |
120,799,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3744:Vwa3a
|
UTSW |
7 |
120,752,594 (GRCm38) |
missense |
probably benign |
|
|
R3816:Vwa3a
|
UTSW |
7 |
120,800,379 (GRCm38) |
missense |
probably benign |
0.29 |
|
R3849:Vwa3a
|
UTSW |
7 |
120,762,464 (GRCm38) |
nonsense |
probably null |
|
|
R3904:Vwa3a
|
UTSW |
7 |
120,758,876 (GRCm38) |
missense |
probably benign |
|
|
R4031:Vwa3a
|
UTSW |
7 |
120,768,232 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4408:Vwa3a
|
UTSW |
7 |
120,778,926 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4628:Vwa3a
|
UTSW |
7 |
120,793,375 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4629:Vwa3a
|
UTSW |
7 |
120,793,375 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4652:Vwa3a
|
UTSW |
7 |
120,778,915 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4884:Vwa3a
|
UTSW |
7 |
120,791,701 (GRCm38) |
missense |
probably benign |
|
|
R4948:Vwa3a
|
UTSW |
7 |
120,776,264 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5112:Vwa3a
|
UTSW |
7 |
120,783,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5385:Vwa3a
|
UTSW |
7 |
120,790,142 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5386:Vwa3a
|
UTSW |
7 |
120,790,142 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5579:Vwa3a
|
UTSW |
7 |
120,768,173 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5587:Vwa3a
|
UTSW |
7 |
120,780,235 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5639:Vwa3a
|
UTSW |
7 |
120,790,143 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6102:Vwa3a
|
UTSW |
7 |
120,776,138 (GRCm38) |
splice site |
probably null |
|
|
R6239:Vwa3a
|
UTSW |
7 |
120,794,234 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6279:Vwa3a
|
UTSW |
7 |
120,782,400 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6298:Vwa3a
|
UTSW |
7 |
120,795,651 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6300:Vwa3a
|
UTSW |
7 |
120,782,400 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6907:Vwa3a
|
UTSW |
7 |
120,792,581 (GRCm38) |
unclassified |
probably benign |
|
|
R7135:Vwa3a
|
UTSW |
7 |
120,773,030 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7215:Vwa3a
|
UTSW |
7 |
120,795,630 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7282:Vwa3a
|
UTSW |
7 |
120,786,465 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7351:Vwa3a
|
UTSW |
7 |
120,776,336 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7406:Vwa3a
|
UTSW |
7 |
120,778,915 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7557:Vwa3a
|
UTSW |
7 |
120,795,618 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7612:Vwa3a
|
UTSW |
7 |
120,752,615 (GRCm38) |
missense |
probably null |
0.47 |
|
R7699:Vwa3a
|
UTSW |
7 |
120,752,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7823:Vwa3a
|
UTSW |
7 |
120,772,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8074:Vwa3a
|
UTSW |
7 |
120,799,098 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8730:Vwa3a
|
UTSW |
7 |
120,782,687 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8768:Vwa3a
|
UTSW |
7 |
120,776,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8941:Vwa3a
|
UTSW |
7 |
120,776,088 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9116:Vwa3a
|
UTSW |
7 |
120,767,247 (GRCm38) |
missense |
|
|
|
R9134:Vwa3a
|
UTSW |
7 |
120,778,436 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9264:Vwa3a
|
UTSW |
7 |
120,775,464 (GRCm38) |
missense |
probably benign |
|
|
R9450:Vwa3a
|
UTSW |
7 |
120,804,030 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9464:Vwa3a
|
UTSW |
7 |
120,786,459 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R9792:Vwa3a
|
UTSW |
7 |
120,784,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9793:Vwa3a
|
UTSW |
7 |
120,784,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
V7732:Vwa3a
|
UTSW |
7 |
120,778,949 (GRCm38) |
splice site |
probably benign |
|
|
X0019:Vwa3a
|
UTSW |
7 |
120,768,209 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Vwa3a
|
UTSW |
7 |
120,759,133 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGACTTCAGTTATAGAGTGAGAT -3'
(R):5'- AGCTATGTCTGTGGGCTTCA -3'
Sequencing Primer
(F):5'- AGGGCTATCCAGTGAAACTCTGTC -3'
(R):5'- CTATGTCTGTGGGCTTCATGTCTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation