Incidental Mutation 'R1334:Vwa5a'
| ID |
156812 |
| 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 |
039399-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
38629564-38654633 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 38646037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 468
(N468K)
|
| 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: N468K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000001544
Gene: ENSMUSG00000023186
AA Change: N468K
| 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: N468K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113596
Gene: ENSMUSG00000023186
AA Change: N468K
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,526 (GRCm39) |
E933G |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,805 (GRCm39) |
H75Q |
probably damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,276,387 (GRCm39) |
E282G |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,235,483 (GRCm39) |
P503L |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,617,642 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,517,658 (GRCm39) |
S297P |
probably damaging |
Het |
| Enpp4 |
C |
A |
17: 44,413,259 (GRCm39) |
V92L |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,513,000 (GRCm39) |
Y709N |
probably damaging |
Het |
| H2-Eb2 |
T |
G |
17: 34,553,324 (GRCm39) |
V170G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
| Ldah |
T |
C |
12: 8,334,089 (GRCm39) |
|
probably null |
Het |
| Micu1 |
T |
C |
10: 59,624,798 (GRCm39) |
L280P |
probably damaging |
Het |
| Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,024 (GRCm39) |
I290T |
probably benign |
Het |
| Or1q1 |
A |
T |
2: 36,886,872 (GRCm39) |
I17F |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,212,899 (GRCm39) |
Y119C |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
| Primpol |
T |
C |
8: 47,039,426 (GRCm39) |
Y398C |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
| St14 |
T |
C |
9: 31,019,506 (GRCm39) |
Y105C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTACTGGAAATCCAGAGATGAGAT -3'
(R):5'- GAAATCCCAAGTGACCACCAAGTGT -3'
Sequencing Primer
(F):5'- GACAAGCAAGTGTGTATGTCTC -3'
(R):5'- CCCAGTCAGTTGTGCATAGA -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation