Incidental Mutation 'R4639:Vwa5a'
| ID |
350834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa5a
|
| Ensembl Gene |
ENSMUSG00000023186 |
| Gene Name |
von Willebrand factor A domain containing 5A |
| Synonyms |
5830475I06Rik, Loh11cr2a, BCSC-1 |
| MMRRC Submission |
041901-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4639 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
38629564-38654633 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 38638410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001544]
[ENSMUST00000001544]
[ENSMUST00000118144]
[ENSMUST00000118144]
[ENSMUST00000118144]
[ENSMUST00000129598]
|
| AlphaFold |
Q99KC8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000001544
|
| SMART Domains |
Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
2.59e-61 |
SMART |
|
VWA
|
279 |
460 |
2.61e-12 |
SMART |
|
low complexity region
|
615 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
Blast:VWA
|
681 |
713 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000001544
|
| SMART Domains |
Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
2.59e-61 |
SMART |
|
VWA
|
279 |
460 |
2.61e-12 |
SMART |
|
low complexity region
|
615 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
Blast:VWA
|
681 |
713 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118144
|
| SMART Domains |
Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
2.59e-61 |
SMART |
|
VWA
|
279 |
460 |
2.61e-12 |
SMART |
|
low complexity region
|
615 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
Blast:VWA
|
681 |
713 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118144
|
| SMART Domains |
Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
2.59e-61 |
SMART |
|
VWA
|
279 |
460 |
2.61e-12 |
SMART |
|
low complexity region
|
615 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
Blast:VWA
|
681 |
713 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118144
|
| SMART Domains |
Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
2.59e-61 |
SMART |
|
VWA
|
279 |
460 |
2.61e-12 |
SMART |
|
low complexity region
|
615 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
|
Blast:VWA
|
681 |
713 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149376
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
A |
C |
12: 5,068,053 (GRCm39) |
H1017P |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,813,317 (GRCm39) |
V943D |
probably benign |
Het |
| Babam1 |
C |
T |
8: 71,856,951 (GRCm39) |
A304V |
probably damaging |
Het |
| Cdk5rap2 |
G |
T |
4: 70,220,413 (GRCm39) |
A584D |
probably damaging |
Het |
| Ddx21 |
A |
T |
10: 62,427,616 (GRCm39) |
L429* |
probably null |
Het |
| Dsp |
T |
C |
13: 38,380,760 (GRCm39) |
Y2502H |
probably damaging |
Het |
| Eaf1 |
G |
A |
14: 31,226,333 (GRCm39) |
D206N |
probably benign |
Het |
| Fam43b |
T |
A |
4: 138,123,278 (GRCm39) |
D14V |
possibly damaging |
Het |
| Fanca |
T |
A |
8: 124,044,889 (GRCm39) |
K34I |
probably damaging |
Het |
| Fzd4 |
T |
C |
7: 89,056,525 (GRCm39) |
Y191H |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm10479 |
A |
G |
12: 20,483,343 (GRCm39) |
T55A |
probably damaging |
Het |
| Gsr |
T |
G |
8: 34,187,284 (GRCm39) |
I488M |
probably damaging |
Het |
| Mrs2 |
A |
G |
13: 25,185,767 (GRCm39) |
I135T |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,232,377 (GRCm39) |
M517T |
possibly damaging |
Het |
| Naip1 |
C |
G |
13: 100,580,791 (GRCm39) |
G152A |
probably benign |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nat10 |
G |
A |
2: 103,565,234 (GRCm39) |
T449I |
probably benign |
Het |
| Nin |
A |
G |
12: 70,085,375 (GRCm39) |
S1619P |
probably damaging |
Het |
| Or14c45 |
G |
A |
7: 86,175,969 (GRCm39) |
M1I |
probably null |
Het |
| Or5m9b |
A |
G |
2: 85,905,923 (GRCm39) |
I280V |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,479,439 (GRCm39) |
T448A |
probably benign |
Het |
| Pcolce2 |
A |
G |
9: 95,519,930 (GRCm39) |
|
probably null |
Het |
| Pnp |
C |
T |
14: 51,188,380 (GRCm39) |
R207* |
probably null |
Het |
| Ppl |
A |
G |
16: 4,907,310 (GRCm39) |
V995A |
probably damaging |
Het |
| Ppp2r2a |
G |
A |
14: 67,276,406 (GRCm39) |
T33I |
probably damaging |
Het |
| Pramel20 |
C |
T |
4: 143,298,467 (GRCm39) |
R137C |
probably benign |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rgs16 |
G |
T |
1: 153,617,781 (GRCm39) |
C97F |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,444,717 (GRCm39) |
D2254E |
probably benign |
Het |
| Slc6a17 |
T |
C |
3: 107,381,597 (GRCm39) |
M495V |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,082,724 (GRCm39) |
I1967V |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tcp11l2 |
A |
G |
10: 84,420,800 (GRCm39) |
D13G |
probably damaging |
Het |
| Vmn1r167 |
T |
C |
7: 23,205,011 (GRCm39) |
I2V |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,505,279 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vwa5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Vwa5a
|
APN |
9 |
38,649,110 (GRCm39) |
splice site |
probably null |
|
|
IGL00966:Vwa5a
|
APN |
9 |
38,634,675 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01597:Vwa5a
|
APN |
9 |
38,645,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01950:Vwa5a
|
APN |
9 |
38,638,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Vwa5a
|
APN |
9 |
38,649,072 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02326:Vwa5a
|
APN |
9 |
38,649,252 (GRCm39) |
missense |
probably benign |
|
|
IGL02378:Vwa5a
|
APN |
9 |
38,645,266 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02442:Vwa5a
|
APN |
9 |
38,646,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02458:Vwa5a
|
APN |
9 |
38,638,259 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02570:Vwa5a
|
APN |
9 |
38,646,167 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03068:Vwa5a
|
APN |
9 |
38,646,143 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0126:Vwa5a
|
UTSW |
9 |
38,649,103 (GRCm39) |
splice site |
probably null |
|
|
R0325:Vwa5a
|
UTSW |
9 |
38,639,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Vwa5a
|
UTSW |
9 |
38,635,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0928:Vwa5a
|
UTSW |
9 |
38,639,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1334:Vwa5a
|
UTSW |
9 |
38,646,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1446:Vwa5a
|
UTSW |
9 |
38,645,264 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1708:Vwa5a
|
UTSW |
9 |
38,639,128 (GRCm39) |
missense |
probably benign |
|
|
R1986:Vwa5a
|
UTSW |
9 |
38,649,110 (GRCm39) |
splice site |
probably benign |
|
|
R2024:Vwa5a
|
UTSW |
9 |
38,647,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2230:Vwa5a
|
UTSW |
9 |
38,645,174 (GRCm39) |
missense |
probably null |
1.00 |
|
R2252:Vwa5a
|
UTSW |
9 |
38,639,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2278:Vwa5a
|
UTSW |
9 |
38,634,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3912:Vwa5a
|
UTSW |
9 |
38,646,039 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3913:Vwa5a
|
UTSW |
9 |
38,646,039 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4172:Vwa5a
|
UTSW |
9 |
38,635,166 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4244:Vwa5a
|
UTSW |
9 |
38,649,112 (GRCm39) |
splice site |
probably benign |
|
|
R4510:Vwa5a
|
UTSW |
9 |
38,633,853 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4511:Vwa5a
|
UTSW |
9 |
38,633,853 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4549:Vwa5a
|
UTSW |
9 |
38,649,221 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4591:Vwa5a
|
UTSW |
9 |
38,646,916 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4811:Vwa5a
|
UTSW |
9 |
38,647,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4911:Vwa5a
|
UTSW |
9 |
38,649,268 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4936:Vwa5a
|
UTSW |
9 |
38,647,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4989:Vwa5a
|
UTSW |
9 |
38,633,926 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5370:Vwa5a
|
UTSW |
9 |
38,652,512 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5596:Vwa5a
|
UTSW |
9 |
38,633,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Vwa5a
|
UTSW |
9 |
38,653,038 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6207:Vwa5a
|
UTSW |
9 |
38,633,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6486:Vwa5a
|
UTSW |
9 |
38,645,174 (GRCm39) |
missense |
probably null |
1.00 |
|
R7666:Vwa5a
|
UTSW |
9 |
38,645,259 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7683:Vwa5a
|
UTSW |
9 |
38,646,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Vwa5a
|
UTSW |
9 |
38,652,458 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7839:Vwa5a
|
UTSW |
9 |
38,634,799 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7996:Vwa5a
|
UTSW |
9 |
38,639,124 (GRCm39) |
nonsense |
probably null |
|
|
R8024:Vwa5a
|
UTSW |
9 |
38,647,316 (GRCm39) |
nonsense |
probably null |
|
|
R8491:Vwa5a
|
UTSW |
9 |
38,652,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9572:Vwa5a
|
UTSW |
9 |
38,649,239 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0022:Vwa5a
|
UTSW |
9 |
38,647,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Vwa5a
|
UTSW |
9 |
38,634,547 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTGATGGGAGCTCCTTC -3'
(R):5'- GAGGGAATGAGCACTCTACC -3'
Sequencing Primer
(F):5'- CTGCAATGGTGAGTTTCTACCCAG -3'
(R):5'- TGATACTTTAGCATGAGCCCAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation