Incidental Mutation 'R8074:Vwa3a'
| ID |
620414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
067508-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8074 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
120739318-120805742 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120799098 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 941
(I941L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000166668]
[ENSMUST00000167213]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033180
AA Change: I941L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: I941L
| 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: ENSMUST00000166668
AA Change: I941L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: I941L
| 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: I941L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: I941L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,938,494 (GRCm38) |
I1380L |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,134,420 (GRCm38) |
V32A |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,950,232 (GRCm38) |
|
probably benign |
Het |
| Arhgef12 |
G |
A |
9: 42,971,103 (GRCm38) |
R1482* |
probably null |
Het |
| Cd300lg |
T |
G |
11: 102,041,601 (GRCm38) |
L4R |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,569,625 (GRCm38) |
K1072M |
possibly damaging |
Het |
| Clasp1 |
G |
T |
1: 118,462,483 (GRCm38) |
M132I |
probably benign |
Het |
| Clec18a |
T |
G |
8: 111,071,598 (GRCm38) |
D489A |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,252,173 (GRCm38) |
S551P |
|
Het |
| Efna4 |
G |
A |
3: 89,335,326 (GRCm38) |
T87M |
probably benign |
Het |
| Fam229b |
T |
C |
10: 39,120,259 (GRCm38) |
R42G |
probably null |
Het |
| Gm17175 |
C |
T |
14: 51,571,623 (GRCm38) |
M95I |
probably damaging |
Het |
| Grk4 |
A |
G |
5: 34,676,138 (GRCm38) |
E96G |
probably benign |
Het |
| Helb |
A |
C |
10: 120,089,416 (GRCm38) |
F1019V |
probably benign |
Het |
| Hsd17b2 |
T |
C |
8: 117,758,701 (GRCm38) |
V301A |
possibly damaging |
Het |
| Htr1b |
A |
G |
9: 81,631,529 (GRCm38) |
F342L |
probably benign |
Het |
| Idua |
C |
A |
5: 108,680,575 (GRCm38) |
A265E |
possibly damaging |
Het |
| Jup |
T |
G |
11: 100,386,287 (GRCm38) |
T32P |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,057,716 (GRCm38) |
K1632E |
probably benign |
Het |
| Lef1 |
G |
A |
3: 131,204,305 (GRCm38) |
|
probably null |
Het |
| Lypla2 |
A |
G |
4: 135,969,801 (GRCm38) |
|
probably null |
Het |
| Mall |
A |
G |
2: 127,729,865 (GRCm38) |
M1T |
probably null |
Het |
| Mettl25 |
G |
T |
10: 105,826,080 (GRCm38) |
A343E |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,349,087 (GRCm38) |
N940S |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 116,051,434 (GRCm38) |
V643D |
possibly damaging |
Het |
| Nupr1 |
A |
T |
7: 126,624,937 (GRCm38) |
F70Y |
possibly damaging |
Het |
| Olfr1047 |
C |
G |
2: 86,228,129 (GRCm38) |
V281L |
possibly damaging |
Het |
| Olfr202 |
A |
G |
16: 59,284,186 (GRCm38) |
F104L |
probably benign |
Het |
| Olfr23 |
T |
A |
11: 73,940,387 (GRCm38) |
V47D |
possibly damaging |
Het |
| Olfr548-ps1 |
A |
G |
7: 102,542,623 (GRCm38) |
H229R |
probably benign |
Het |
| Olfr671 |
A |
T |
7: 104,975,727 (GRCm38) |
I90N |
probably damaging |
Het |
| Olfr951 |
A |
T |
9: 39,393,946 (GRCm38) |
I49F |
probably damaging |
Het |
| Pabpc4 |
A |
T |
4: 123,286,715 (GRCm38) |
M77L |
probably benign |
Het |
| Phactr3 |
A |
G |
2: 178,302,796 (GRCm38) |
E429G |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,713,659 (GRCm38) |
D915G |
probably damaging |
Het |
| Pramef17 |
A |
T |
4: 143,991,854 (GRCm38) |
F340I |
probably benign |
Het |
| Prkcg |
T |
A |
7: 3,323,521 (GRCm38) |
M501K |
probably damaging |
Het |
| Prkch |
G |
A |
12: 73,700,267 (GRCm38) |
A307T |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,927,661 (GRCm38) |
V428A |
possibly damaging |
Het |
| Rnf145 |
C |
A |
11: 44,557,436 (GRCm38) |
D373E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,519,596 (GRCm38) |
Q299K |
probably benign |
Het |
| Sept2 |
A |
G |
1: 93,505,561 (GRCm38) |
D315G |
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,175,435 (GRCm38) |
Y408* |
probably null |
Het |
| Siglecf |
A |
T |
7: 43,351,790 (GRCm38) |
N61Y |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,917,198 (GRCm38) |
I1334K |
probably damaging |
Het |
| Slc38a6 |
A |
T |
12: 73,344,884 (GRCm38) |
T307S |
possibly damaging |
Het |
| Spag9 |
T |
A |
11: 94,112,051 (GRCm38) |
F1129Y |
probably damaging |
Het |
| Sra1 |
G |
A |
18: 36,675,011 (GRCm38) |
A388V |
possibly damaging |
Het |
| Srpk1 |
T |
G |
17: 28,622,016 (GRCm38) |
K12T |
probably damaging |
Het |
| Stam2 |
A |
T |
2: 52,706,426 (GRCm38) |
I333K |
probably damaging |
Het |
| Tle1 |
GAA |
GA |
4: 72,138,979 (GRCm38) |
|
probably null |
Het |
| Tmem121b |
T |
C |
6: 120,492,908 (GRCm38) |
K283E |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,992,952 (GRCm38) |
E473G |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,703,981 (GRCm38) |
S2513T |
probably benign |
Het |
| Ttc16 |
A |
T |
2: 32,774,123 (GRCm38) |
|
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,915,375 (GRCm38) |
C621Y |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,440,540 (GRCm38) |
M171K |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,335,945 (GRCm38) |
V658D |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,547,643 (GRCm38) |
|
probably benign |
Het |
| Zbtb24 |
A |
G |
10: 41,451,232 (GRCm38) |
D38G |
probably damaging |
Het |
| Zfp628 |
T |
C |
7: 4,920,206 (GRCm38) |
C476R |
probably damaging |
Het |
| Zfp831 |
A |
C |
2: 174,644,735 (GRCm38) |
N401T |
possibly 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 |
|
R6336:Vwa3a
|
UTSW |
7 |
120,762,423 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
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 |
|
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'- TGACCAATTATCAGAGAGGCAGTAG -3'
(R):5'- AGCAGTGGAGCAAAATCCTG -3'
Sequencing Primer
(F):5'- TCAGAGAGGCAGTAGTTTTTCAAG -3'
(R):5'- CAGTGGAGCAAAATCCTGTGTTCTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation