Incidental Mutation 'IGL02326:Vwa5a'
ID |
288501 |
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 # |
IGL02326
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
38629564-38654633 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38649252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 667
(T667S)
|
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: T667S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000001544 Gene: ENSMUSG00000023186 AA Change: T667S
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: T667S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113596 Gene: ENSMUSG00000023186 AA Change: T667S
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 |
unknown
Transcript: ENSMUST00000137972
AA Change: T47S
|
SMART Domains |
Protein: ENSMUSP00000121104 Gene: ENSMUSG00000023186 AA Change: T47S
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
T |
C |
3: 121,465,051 (GRCm39) |
V29A |
unknown |
Het |
Abcc8 |
C |
A |
7: 45,772,281 (GRCm39) |
|
probably null |
Het |
Ankar |
A |
T |
1: 72,705,514 (GRCm39) |
I614N |
probably damaging |
Het |
Ash1l |
G |
A |
3: 88,873,364 (GRCm39) |
R49H |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,671,654 (GRCm39) |
H1123R |
probably damaging |
Het |
Casp12 |
T |
C |
9: 5,358,317 (GRCm39) |
Y375H |
possibly damaging |
Het |
Cbl |
A |
G |
9: 44,062,770 (GRCm39) |
I861T |
possibly damaging |
Het |
Cdh20 |
T |
C |
1: 104,902,764 (GRCm39) |
L485P |
probably damaging |
Het |
Cobl |
A |
T |
11: 12,336,712 (GRCm39) |
N25K |
possibly damaging |
Het |
Col14a1 |
T |
C |
15: 55,282,193 (GRCm39) |
V818A |
unknown |
Het |
Csmd3 |
G |
A |
15: 47,619,359 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,869,755 (GRCm39) |
Y509C |
probably damaging |
Het |
Fabp2 |
C |
T |
3: 122,692,395 (GRCm39) |
R96C |
probably damaging |
Het |
Fam53a |
T |
C |
5: 33,757,938 (GRCm39) |
D395G |
probably damaging |
Het |
Gabrb1 |
T |
A |
5: 71,858,190 (GRCm39) |
I72K |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,340,964 (GRCm39) |
S4479N |
probably damaging |
Het |
Hrnr |
C |
T |
3: 93,231,052 (GRCm39) |
T430I |
unknown |
Het |
Ighv1-53 |
T |
A |
12: 115,122,235 (GRCm39) |
T47S |
probably benign |
Het |
Ilk |
C |
A |
7: 105,390,840 (GRCm39) |
P261Q |
probably damaging |
Het |
Ints10 |
T |
G |
8: 69,257,485 (GRCm39) |
D228E |
probably damaging |
Het |
Kcnq5 |
A |
T |
1: 21,472,816 (GRCm39) |
S782R |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,467,897 (GRCm39) |
S1046P |
probably damaging |
Het |
Musk |
C |
T |
4: 58,354,113 (GRCm39) |
P374S |
probably benign |
Het |
Or52e18 |
T |
A |
7: 104,609,853 (GRCm39) |
I29F |
probably benign |
Het |
Or5b108 |
C |
A |
19: 13,168,779 (GRCm39) |
Y249* |
probably null |
Het |
Or5j1 |
G |
A |
2: 86,879,355 (GRCm39) |
S75L |
possibly damaging |
Het |
Or5w19 |
T |
A |
2: 87,699,019 (GRCm39) |
I228N |
probably damaging |
Het |
Pkd2 |
T |
C |
5: 104,624,941 (GRCm39) |
Y246H |
probably benign |
Het |
Plekha5 |
G |
T |
6: 140,529,576 (GRCm39) |
G340* |
probably null |
Het |
Plxna4 |
T |
A |
6: 32,129,840 (GRCm39) |
M1828L |
probably damaging |
Het |
Prex1 |
A |
G |
2: 166,463,105 (GRCm39) |
I252T |
probably benign |
Het |
Pura |
A |
G |
18: 36,420,831 (GRCm39) |
D206G |
probably damaging |
Het |
Rad54b |
T |
A |
4: 11,612,713 (GRCm39) |
F782I |
probably damaging |
Het |
Rbp4 |
T |
C |
19: 38,112,563 (GRCm39) |
D90G |
probably damaging |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Scn7a |
C |
A |
2: 66,530,392 (GRCm39) |
R651L |
probably benign |
Het |
Sh2d3c |
A |
T |
2: 32,639,163 (GRCm39) |
|
probably null |
Het |
Slc43a1 |
T |
G |
2: 84,680,115 (GRCm39) |
L87R |
probably damaging |
Het |
Sppl2c |
A |
G |
11: 104,078,099 (GRCm39) |
T300A |
probably benign |
Het |
Srgap2 |
T |
A |
1: 131,284,645 (GRCm39) |
|
probably null |
Het |
Tkt |
G |
A |
14: 30,294,182 (GRCm39) |
V531M |
probably damaging |
Het |
Twsg1 |
T |
C |
17: 66,233,431 (GRCm39) |
D173G |
possibly damaging |
Het |
Ugt2b37 |
G |
T |
5: 87,388,861 (GRCm39) |
H451N |
probably benign |
Het |
Ugt2b38 |
C |
T |
5: 87,571,592 (GRCm39) |
D147N |
probably damaging |
Het |
Vmn1r15 |
T |
C |
6: 57,235,255 (GRCm39) |
I41T |
probably benign |
Het |
Xrn2 |
A |
G |
2: 146,889,633 (GRCm39) |
E672G |
probably benign |
Het |
Zfp235 |
T |
A |
7: 23,834,727 (GRCm39) |
M1K |
probably null |
Het |
Zmym1 |
T |
C |
4: 126,941,553 (GRCm39) |
E847G |
probably damaging |
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 |
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 |
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 |