Incidental Mutation 'IGL02378:Vwa5a'
| ID |
291250 |
| 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 # |
IGL02378
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
38629564-38654633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38645266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 450
(M450I)
|
| 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: M450I
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: M450I
| 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: M450I
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: M450I
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,080,424 (GRCm39) |
T414I |
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acer2 |
A |
T |
4: 86,804,491 (GRCm39) |
T69S |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 68,878,411 (GRCm39) |
V409A |
probably damaging |
Het |
| Anks3 |
T |
A |
16: 4,768,626 (GRCm39) |
Y239F |
possibly damaging |
Het |
| Arhgap42 |
G |
A |
9: 9,035,584 (GRCm39) |
H253Y |
possibly damaging |
Het |
| Asb18 |
A |
T |
1: 89,920,710 (GRCm39) |
L189Q |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,519,698 (GRCm39) |
R1185G |
probably benign |
Het |
| Cdca7l |
T |
A |
12: 117,835,862 (GRCm39) |
V66E |
possibly damaging |
Het |
| Cdrt4 |
G |
T |
11: 62,883,534 (GRCm39) |
E79* |
probably null |
Het |
| Cep57 |
A |
C |
9: 13,732,842 (GRCm39) |
Y34* |
probably null |
Het |
| Cep63 |
A |
T |
9: 102,473,314 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,144,721 (GRCm39) |
I516K |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,850,131 (GRCm39) |
E1551G |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,088,887 (GRCm39) |
I843T |
probably damaging |
Het |
| Gabra1 |
C |
A |
11: 42,031,082 (GRCm39) |
V283F |
probably damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,544,905 (GRCm39) |
I179T |
possibly damaging |
Het |
| Htr2c |
G |
A |
X: 145,976,755 (GRCm39) |
|
probably benign |
Het |
| Irgc |
G |
A |
7: 24,131,500 (GRCm39) |
T439I |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,008,947 (GRCm39) |
L476H |
probably benign |
Het |
| Jarid2 |
A |
C |
13: 45,067,801 (GRCm39) |
K1070T |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,919,652 (GRCm39) |
I2193T |
probably damaging |
Het |
| Med19 |
A |
G |
2: 84,515,625 (GRCm39) |
E103G |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,397,716 (GRCm39) |
D818N |
probably benign |
Het |
| Nom1 |
G |
T |
5: 29,656,124 (GRCm39) |
E830* |
probably null |
Het |
| Or10g9b |
T |
G |
9: 39,917,769 (GRCm39) |
T159P |
probably damaging |
Het |
| Or5b98 |
A |
C |
19: 12,931,747 (GRCm39) |
S265R |
probably benign |
Het |
| Orai3 |
G |
T |
7: 127,369,333 (GRCm39) |
R58L |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,118,006 (GRCm39) |
M583K |
possibly damaging |
Het |
| Pik3cb |
A |
T |
9: 98,944,893 (GRCm39) |
M624K |
probably benign |
Het |
| Rars2 |
G |
A |
4: 34,656,199 (GRCm39) |
R451H |
possibly damaging |
Het |
| Rgs22 |
A |
G |
15: 36,103,951 (GRCm39) |
L170P |
probably benign |
Het |
| Rps6kl1 |
C |
A |
12: 85,185,448 (GRCm39) |
D417Y |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,033,674 (GRCm39) |
D106G |
probably damaging |
Het |
| Setx |
C |
T |
2: 29,063,738 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
T |
A |
5: 129,616,668 (GRCm39) |
Y371N |
probably damaging |
Het |
| Slc24a3 |
C |
T |
2: 145,360,322 (GRCm39) |
R141C |
possibly damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,171,109 (GRCm39) |
W926* |
probably null |
Het |
| Steap4 |
A |
G |
5: 8,026,741 (GRCm39) |
T235A |
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,867,571 (GRCm39) |
|
probably null |
Het |
| Tll1 |
A |
T |
8: 64,470,660 (GRCm39) |
L921* |
probably null |
Het |
| Tnfrsf19 |
T |
A |
14: 61,208,451 (GRCm39) |
T357S |
probably benign |
Het |
| Tnik |
C |
A |
3: 28,692,608 (GRCm39) |
S825* |
probably null |
Het |
| Vil1 |
T |
A |
1: 74,469,850 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
T |
C |
17: 20,497,791 (GRCm39) |
K483E |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,344,112 (GRCm39) |
P2118S |
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 |
|
|
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 |
Incidental Mutation