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 |
120338541-120404965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120398321 bp (GRCm39)
|
| 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: 109,829,320 (GRCm39) |
I1380L |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,184,420 (GRCm39) |
V32A |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,780,577 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
G |
A |
9: 42,882,399 (GRCm39) |
R1482* |
probably null |
Het |
| Cd300lg |
T |
G |
11: 101,932,427 (GRCm39) |
L4R |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,426,822 (GRCm39) |
K1072M |
possibly damaging |
Het |
| Clasp1 |
G |
T |
1: 118,390,213 (GRCm39) |
M132I |
probably benign |
Het |
| Clec18a |
T |
G |
8: 111,798,230 (GRCm39) |
D489A |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,978,801 (GRCm39) |
S551P |
|
Het |
| Efna4 |
G |
A |
3: 89,242,633 (GRCm39) |
T87M |
probably benign |
Het |
| Fam229b |
T |
C |
10: 38,996,255 (GRCm39) |
R42G |
probably null |
Het |
| Gm17175 |
C |
T |
14: 51,809,080 (GRCm39) |
M95I |
probably damaging |
Het |
| Grk4 |
A |
G |
5: 34,833,482 (GRCm39) |
E96G |
probably benign |
Het |
| Helb |
A |
C |
10: 119,925,321 (GRCm39) |
F1019V |
probably benign |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,440 (GRCm39) |
V301A |
possibly damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,582 (GRCm39) |
F342L |
probably benign |
Het |
| Idua |
C |
A |
5: 108,828,441 (GRCm39) |
A265E |
possibly damaging |
Het |
| Jup |
T |
G |
11: 100,277,113 (GRCm39) |
T32P |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,715 (GRCm39) |
K1632E |
probably benign |
Het |
| Lef1 |
G |
A |
3: 130,997,954 (GRCm39) |
|
probably null |
Het |
| Lypla2 |
A |
G |
4: 135,697,112 (GRCm39) |
|
probably null |
Het |
| Mall |
A |
G |
2: 127,571,785 (GRCm39) |
M1T |
probably null |
Het |
| Mettl25 |
G |
T |
10: 105,661,941 (GRCm39) |
A343E |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,267,324 (GRCm39) |
N940S |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,908,631 (GRCm39) |
V643D |
possibly damaging |
Het |
| Nupr1 |
A |
T |
7: 126,224,109 (GRCm39) |
F70Y |
possibly damaging |
Het |
| Or1e17 |
T |
A |
11: 73,831,213 (GRCm39) |
V47D |
possibly damaging |
Het |
| Or52b4i |
A |
G |
7: 102,191,830 (GRCm39) |
H229R |
probably benign |
Het |
| Or52e8 |
A |
T |
7: 104,624,934 (GRCm39) |
I90N |
probably damaging |
Het |
| Or5ac20 |
A |
G |
16: 59,104,549 (GRCm39) |
F104L |
probably benign |
Het |
| Or8g32 |
A |
T |
9: 39,305,242 (GRCm39) |
I49F |
probably damaging |
Het |
| Or8k3 |
C |
G |
2: 86,058,473 (GRCm39) |
V281L |
possibly damaging |
Het |
| Pabpc4 |
A |
T |
4: 123,180,508 (GRCm39) |
M77L |
probably benign |
Het |
| Phactr3 |
A |
G |
2: 177,944,589 (GRCm39) |
E429G |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,549,523 (GRCm39) |
D915G |
probably damaging |
Het |
| Pramel14 |
A |
T |
4: 143,718,424 (GRCm39) |
F340I |
probably benign |
Het |
| Prkcg |
T |
A |
7: 3,372,037 (GRCm39) |
M501K |
probably damaging |
Het |
| Prkch |
G |
A |
12: 73,747,041 (GRCm39) |
A307T |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,769,581 (GRCm39) |
V428A |
possibly damaging |
Het |
| Rnf145 |
C |
A |
11: 44,448,263 (GRCm39) |
D373E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,680,257 (GRCm39) |
Q299K |
probably benign |
Het |
| Septin2 |
A |
G |
1: 93,433,283 (GRCm39) |
D315G |
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,125,435 (GRCm39) |
Y408* |
probably null |
Het |
| Siglecf |
A |
T |
7: 43,001,214 (GRCm39) |
N61Y |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,824,531 (GRCm39) |
I1334K |
probably damaging |
Het |
| Slc38a6 |
A |
T |
12: 73,391,658 (GRCm39) |
T307S |
possibly damaging |
Het |
| Spag9 |
T |
A |
11: 94,002,877 (GRCm39) |
F1129Y |
probably damaging |
Het |
| Sra1 |
G |
A |
18: 36,808,064 (GRCm39) |
A388V |
possibly damaging |
Het |
| Srpk1 |
T |
G |
17: 28,840,990 (GRCm39) |
K12T |
probably damaging |
Het |
| Stam2 |
A |
T |
2: 52,596,438 (GRCm39) |
I333K |
probably damaging |
Het |
| Tle1 |
GAA |
GA |
4: 72,057,216 (GRCm39) |
|
probably null |
Het |
| Tmem121b |
T |
C |
6: 120,469,869 (GRCm39) |
K283E |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,868,850 (GRCm39) |
E473G |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,922,955 (GRCm39) |
S2513T |
probably benign |
Het |
| Ttc16 |
A |
T |
2: 32,664,135 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,799,578 (GRCm39) |
C621Y |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,417,475 (GRCm39) |
M171K |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,312,904 (GRCm39) |
V658D |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,455,064 (GRCm39) |
|
probably benign |
Het |
| Zbtb24 |
A |
G |
10: 41,327,228 (GRCm39) |
D38G |
probably damaging |
Het |
| Zfp628 |
T |
C |
7: 4,923,205 (GRCm39) |
C476R |
probably damaging |
Het |
| Zfp831 |
A |
C |
2: 174,486,528 (GRCm39) |
N401T |
possibly 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 |
|
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 |
|
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'- TGACCAATTATCAGAGAGGCAGTAG -3'
(R):5'- AGCAGTGGAGCAAAATCCTG -3'
Sequencing Primer
(F):5'- TCAGAGAGGCAGTAGTTTTTCAAG -3'
(R):5'- CAGTGGAGCAAAATCCTGTGTTCTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation