Incidental Mutation 'R8491:Vwa5a'
| ID |
657999 |
| 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 |
067933-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
38629564-38654633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38652476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 753
(E753G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113596
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001544]
[ENSMUST00000118144]
|
| AlphaFold |
Q99KC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001544
AA Change: E753G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: E753G
| 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 damaging
Transcript: ENSMUST00000118144
AA Change: E753G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: E753G
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aard |
A |
T |
15: 51,903,708 (GRCm39) |
I44F |
unknown |
Het |
| Agap1 |
A |
G |
1: 89,537,294 (GRCm39) |
E100G |
probably damaging |
Het |
| Aoc3 |
G |
T |
11: 101,223,042 (GRCm39) |
R426L |
probably benign |
Het |
| Aspm |
T |
G |
1: 139,385,433 (GRCm39) |
L359R |
probably damaging |
Het |
| Atp8b2 |
A |
G |
3: 89,865,676 (GRCm39) |
S75P |
probably damaging |
Het |
| Bcl9l |
A |
G |
9: 44,412,065 (GRCm39) |
E17G |
probably benign |
Het |
| Casc3 |
G |
T |
11: 98,713,977 (GRCm39) |
R403L |
probably benign |
Het |
| Cdh16 |
T |
C |
8: 105,343,681 (GRCm39) |
D605G |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,757,775 (GRCm39) |
|
probably null |
Het |
| Cers5 |
T |
A |
15: 99,638,831 (GRCm39) |
K161N |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,933,157 (GRCm39) |
D454E |
probably damaging |
Het |
| Cxcl15 |
T |
A |
5: 90,943,089 (GRCm39) |
C30* |
probably null |
Het |
| Cyp4a12a |
C |
A |
4: 115,158,650 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
A |
T |
8: 37,052,000 (GRCm39) |
I577N |
probably benign |
Het |
| Dusp6 |
C |
A |
10: 99,102,081 (GRCm39) |
R210S |
possibly damaging |
Het |
| Faxc |
T |
A |
4: 21,993,319 (GRCm39) |
M321K |
probably damaging |
Het |
| Fez2 |
C |
A |
17: 78,692,200 (GRCm39) |
V340L |
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gdnf |
A |
G |
15: 7,864,272 (GRCm39) |
I228V |
possibly damaging |
Het |
| Gm12258 |
A |
G |
11: 58,745,122 (GRCm39) |
T18A |
|
Het |
| Gm5460 |
T |
C |
14: 33,761,740 (GRCm39) |
L194P |
probably damaging |
Het |
| Gm6040 |
T |
G |
8: 21,407,135 (GRCm39) |
R28S |
possibly damaging |
Het |
| Gmps |
A |
G |
3: 63,921,779 (GRCm39) |
E594G |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,281,030 (GRCm39) |
V3334A |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,506,963 (GRCm39) |
|
probably null |
Het |
| Ins1 |
A |
G |
19: 52,252,808 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,859,688 (GRCm39) |
D1229V |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,196,384 (GRCm39) |
D347G |
probably damaging |
Het |
| Or52d3 |
G |
A |
7: 104,229,242 (GRCm39) |
V130I |
probably damaging |
Het |
| Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,565,244 (GRCm39) |
N3K |
unknown |
Het |
| Pigl |
A |
G |
11: 62,364,293 (GRCm39) |
R112G |
probably null |
Het |
| Prkcq |
T |
C |
2: 11,284,335 (GRCm39) |
Y502H |
probably damaging |
Het |
| Psg16 |
T |
C |
7: 16,824,437 (GRCm39) |
Y74H |
probably damaging |
Het |
| Psme4 |
G |
A |
11: 30,722,161 (GRCm39) |
G60D |
possibly damaging |
Het |
| Rpp14 |
A |
T |
14: 8,083,925 (GRCm38) |
Q27L |
possibly damaging |
Het |
| Serpini2 |
A |
C |
3: 75,159,822 (GRCm39) |
C315G |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,592 (GRCm39) |
I60T |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,106,678 (GRCm39) |
Y1436H |
probably damaging |
Het |
| Tmem245 |
T |
C |
4: 56,906,261 (GRCm39) |
Q548R |
probably benign |
Het |
| Tob1 |
A |
G |
11: 94,105,115 (GRCm39) |
D217G |
probably benign |
Het |
| Trim21 |
A |
C |
7: 102,208,689 (GRCm39) |
D343E |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
| Trmt13 |
T |
C |
3: 116,376,228 (GRCm39) |
R388G |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,798,582 (GRCm39) |
V305A |
probably benign |
Het |
| Ushbp1 |
A |
G |
8: 71,845,041 (GRCm39) |
V244A |
probably benign |
Het |
| Vdac2 |
T |
A |
14: 21,887,838 (GRCm39) |
N60K |
possibly damaging |
Het |
| Washc4 |
A |
G |
10: 83,411,987 (GRCm39) |
D706G |
probably benign |
Het |
| Zbtb5 |
T |
C |
4: 44,995,090 (GRCm39) |
D98G |
probably damaging |
Het |
| Zfp53 |
A |
G |
17: 21,729,621 (GRCm39) |
I551M |
probably benign |
Het |
| Zfp958 |
G |
T |
8: 4,676,215 (GRCm39) |
R61I |
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 |
|
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 |
|
|
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'- TTCTATGAAGCAGCAGATTAGGG -3'
(R):5'- ACCAAGTACATGCTTTGCCC -3'
Sequencing Primer
(F):5'- GCAGCAGATTAGGGAACATTG -3'
(R):5'- GCTTTGCCCTAATCCTGAAAAGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation