Incidental Mutation 'IGL00092:Vwa5a'
ID |
1331 |
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 # |
IGL00092
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
38629564-38654633 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to A
at 38649110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001544]
[ENSMUST00000118144]
|
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: 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 |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,892,430 (GRCm39) |
D443G |
probably benign |
Het |
Atg16l1 |
T |
C |
1: 87,693,119 (GRCm39) |
I28T |
possibly damaging |
Het |
Bpi |
T |
A |
2: 158,116,716 (GRCm39) |
V371E |
probably damaging |
Het |
Cd109 |
T |
G |
9: 78,524,251 (GRCm39) |
V55G |
probably damaging |
Het |
Cd300c2 |
T |
C |
11: 114,892,375 (GRCm39) |
|
probably benign |
Het |
Cic |
C |
T |
7: 24,991,549 (GRCm39) |
R1280C |
probably damaging |
Het |
Cngb1 |
G |
A |
8: 95,968,812 (GRCm39) |
|
probably benign |
Het |
Cntn4 |
G |
T |
6: 106,483,186 (GRCm39) |
C247F |
probably damaging |
Het |
Disp3 |
C |
T |
4: 148,325,991 (GRCm39) |
V1256I |
probably benign |
Het |
Farsb |
A |
T |
1: 78,439,630 (GRCm39) |
S338T |
probably benign |
Het |
Fcnb |
T |
C |
2: 27,966,813 (GRCm39) |
N240S |
probably benign |
Het |
Flg2 |
A |
G |
3: 93,127,162 (GRCm39) |
S5G |
possibly damaging |
Het |
Git1 |
T |
C |
11: 77,396,783 (GRCm39) |
L635P |
probably benign |
Het |
Gm21985 |
T |
G |
2: 112,181,679 (GRCm39) |
W685G |
probably damaging |
Het |
Gpt2 |
T |
C |
8: 86,238,953 (GRCm39) |
V262A |
probably benign |
Het |
Hecw2 |
A |
G |
1: 53,869,896 (GRCm39) |
V1444A |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,391,248 (GRCm39) |
V4017A |
probably benign |
Het |
Klhl17 |
T |
C |
4: 156,318,147 (GRCm39) |
T129A |
possibly damaging |
Het |
Krt84 |
T |
G |
15: 101,437,170 (GRCm39) |
D331A |
probably damaging |
Het |
Lrrc9 |
C |
T |
12: 72,533,017 (GRCm39) |
T963M |
possibly damaging |
Het |
Mtcl1 |
C |
T |
17: 66,651,314 (GRCm39) |
V935I |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Myocd |
T |
C |
11: 65,071,770 (GRCm39) |
|
probably null |
Het |
Nid1 |
A |
G |
13: 13,650,977 (GRCm39) |
N505D |
probably damaging |
Het |
Ninj1 |
A |
T |
13: 49,347,210 (GRCm39) |
|
probably null |
Het |
Or14a260 |
C |
T |
7: 85,985,269 (GRCm39) |
V112I |
probably benign |
Het |
Or1x6 |
C |
A |
11: 50,939,227 (GRCm39) |
Q98K |
probably benign |
Het |
Or4d10c |
A |
T |
19: 12,065,357 (GRCm39) |
D266E |
probably benign |
Het |
Plscr2 |
T |
A |
9: 92,172,685 (GRCm39) |
|
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,655,353 (GRCm39) |
T307A |
probably benign |
Het |
Sart3 |
T |
C |
5: 113,884,730 (GRCm39) |
R625G |
probably benign |
Het |
Sohlh2 |
T |
A |
3: 55,115,236 (GRCm39) |
L407H |
probably damaging |
Het |
Sorcs1 |
A |
G |
19: 50,178,492 (GRCm39) |
S877P |
probably damaging |
Het |
Stat1 |
T |
C |
1: 52,161,754 (GRCm39) |
M1T |
probably null |
Het |
Szt2 |
C |
T |
4: 118,241,447 (GRCm39) |
|
probably benign |
Het |
Tars3 |
G |
T |
7: 65,302,007 (GRCm39) |
|
probably null |
Het |
Terb2 |
T |
A |
2: 122,028,867 (GRCm39) |
S141R |
probably benign |
Het |
Tgfbrap1 |
T |
C |
1: 43,099,283 (GRCm39) |
Y177C |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,897,875 (GRCm39) |
I169N |
possibly damaging |
Het |
Trim47 |
A |
G |
11: 115,997,020 (GRCm39) |
L578P |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
Vmn2r90 |
T |
C |
17: 17,953,758 (GRCm39) |
S641P |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,765,952 (GRCm39) |
I1493N |
probably benign |
Het |
|
Other mutations in Vwa5a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-07-12 |