Incidental Mutation 'IGL02442:Vwa5a'
ID |
293447 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vwa5a
|
Ensembl Gene |
ENSMUSG00000023186 |
Gene Name |
von Willebrand factor A domain containing 5A |
Synonyms |
5830475I06Rik, Loh11cr2a, BCSC-1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02442
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
38629564-38654633 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38646080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 483
(M483V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001544]
[ENSMUST00000118144]
|
AlphaFold |
Q99KC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001544
AA Change: M483V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000001544 Gene: ENSMUSG00000023186 AA Change: M483V
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: ENSMUST00000118144
AA Change: M483V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113596 Gene: ENSMUSG00000023186 AA Change: M483V
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 |
noncoding transcript
Transcript: ENSMUST00000130295
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137972
|
SMART Domains |
Protein: ENSMUSP00000121104 Gene: ENSMUSG00000023186
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
low complexity region
|
45 |
59 |
N/A |
INTRINSIC |
Blast:VWA
|
62 |
94 |
2e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149376
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152295
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap2 |
A |
G |
11: 80,068,032 (GRCm39) |
E348G |
probably damaging |
Het |
Ahnak |
G |
A |
19: 8,981,380 (GRCm39) |
G888D |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cfap97d1 |
T |
C |
11: 101,881,652 (GRCm39) |
V116A |
probably benign |
Het |
Csde1 |
T |
C |
3: 102,962,135 (GRCm39) |
C649R |
probably benign |
Het |
Cym |
A |
C |
3: 107,121,601 (GRCm39) |
D230E |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 31,009,835 (GRCm39) |
I1911N |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,403,360 (GRCm39) |
H37R |
probably benign |
Het |
Ggt6 |
T |
C |
11: 72,327,632 (GRCm39) |
V146A |
possibly damaging |
Het |
Glud1 |
T |
A |
14: 34,057,395 (GRCm39) |
L54* |
probably null |
Het |
Grk6 |
A |
G |
13: 55,606,750 (GRCm39) |
|
probably benign |
Het |
Gsta4 |
G |
A |
9: 78,116,447 (GRCm39) |
V219I |
probably benign |
Het |
Gucy1a2 |
G |
A |
9: 3,865,385 (GRCm39) |
V620M |
probably damaging |
Het |
Hspe1 |
T |
C |
1: 55,128,201 (GRCm39) |
|
probably benign |
Het |
Icmt |
T |
C |
4: 152,383,173 (GRCm39) |
V76A |
possibly damaging |
Het |
Ifrd1 |
A |
G |
12: 40,266,316 (GRCm39) |
|
probably benign |
Het |
Lgals12 |
T |
C |
19: 7,584,019 (GRCm39) |
|
probably benign |
Het |
Lypla1 |
T |
C |
1: 4,902,610 (GRCm39) |
|
probably benign |
Het |
Map1b |
A |
T |
13: 99,644,706 (GRCm39) |
W66R |
probably damaging |
Het |
Matn3 |
T |
A |
12: 9,017,678 (GRCm39) |
C443* |
probably null |
Het |
Mup8 |
T |
A |
4: 60,219,695 (GRCm39) |
R191W |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,551,811 (GRCm39) |
K140R |
probably benign |
Het |
Ndfip1 |
C |
T |
18: 38,580,789 (GRCm39) |
S66L |
probably damaging |
Het |
Neu1 |
A |
G |
17: 35,153,445 (GRCm39) |
I323V |
probably benign |
Het |
Nup205 |
A |
T |
6: 35,167,003 (GRCm39) |
T341S |
probably benign |
Het |
Or4f7 |
G |
A |
2: 111,644,336 (GRCm39) |
T245I |
probably benign |
Het |
Or5b112 |
T |
A |
19: 13,319,484 (GRCm39) |
C121S |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,351 (GRCm39) |
N139K |
probably benign |
Het |
Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
Pkd1 |
T |
A |
17: 24,784,200 (GRCm39) |
S249T |
probably benign |
Het |
Plekhg3 |
A |
T |
12: 76,625,127 (GRCm39) |
Q1324L |
probably benign |
Het |
Ppara |
T |
A |
15: 85,685,344 (GRCm39) |
V431E |
probably benign |
Het |
Prkaa1 |
T |
G |
15: 5,206,369 (GRCm39) |
H408Q |
probably damaging |
Het |
Sap25 |
T |
A |
5: 137,640,257 (GRCm39) |
N108K |
probably benign |
Het |
Setd5 |
A |
C |
6: 113,087,341 (GRCm39) |
I81L |
possibly damaging |
Het |
Sinhcaf |
A |
T |
6: 148,830,005 (GRCm39) |
|
probably null |
Het |
Sri |
T |
A |
5: 8,112,411 (GRCm39) |
M78K |
probably damaging |
Het |
Tyro3 |
A |
G |
2: 119,639,349 (GRCm39) |
N352S |
probably benign |
Het |
Ubr5 |
T |
A |
15: 38,038,145 (GRCm39) |
E332V |
possibly damaging |
Het |
Vmn2r19 |
G |
T |
6: 123,286,621 (GRCm39) |
V85F |
possibly damaging |
Het |
Vmn2r53 |
A |
T |
7: 12,315,656 (GRCm39) |
V721D |
probably damaging |
Het |
Zfp786 |
T |
A |
6: 47,798,301 (GRCm39) |
Q212H |
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 |
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 |
R4639:Vwa5a
|
UTSW |
9 |
38,638,410 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
|
Posted On |
2015-04-16 |