Incidental Mutation 'R4172:Vwa5a'
ID |
318180 |
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 |
044391-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4172 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
38629564-38654633 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38635166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 224
(F224L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113596
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001544]
[ENSMUST00000118144]
[ENSMUST00000129598]
|
AlphaFold |
Q99KC8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001544
AA Change: F224L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000001544 Gene: ENSMUSG00000023186 AA Change: F224L
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: F224L
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113596 Gene: ENSMUSG00000023186 AA Change: F224L
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: ENSMUST00000129598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149376
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
Cdc5l |
A |
G |
17: 45,730,698 (GRCm39) |
I196T |
probably damaging |
Het |
Dnah7b |
G |
T |
1: 46,266,106 (GRCm39) |
R2225L |
probably damaging |
Het |
Gfra2 |
C |
A |
14: 71,133,521 (GRCm39) |
T117K |
possibly damaging |
Het |
Gle1 |
T |
C |
2: 29,828,538 (GRCm39) |
I120T |
probably benign |
Het |
Guf1 |
T |
A |
5: 69,715,572 (GRCm39) |
N52K |
possibly damaging |
Het |
Helq |
T |
C |
5: 100,919,713 (GRCm39) |
K813E |
probably benign |
Het |
Ighv7-4 |
A |
T |
12: 114,186,635 (GRCm39) |
F46I |
probably damaging |
Het |
Il6st |
G |
A |
13: 112,631,861 (GRCm39) |
D467N |
probably benign |
Het |
Jak1 |
C |
A |
4: 101,016,329 (GRCm39) |
V812L |
probably benign |
Het |
Kank4 |
G |
T |
4: 98,667,358 (GRCm39) |
T363K |
probably damaging |
Het |
Lcat |
C |
A |
8: 106,669,059 (GRCm39) |
W72L |
possibly damaging |
Het |
Map2 |
T |
C |
1: 66,452,759 (GRCm39) |
S392P |
possibly damaging |
Het |
Mtmr2 |
T |
C |
9: 13,711,358 (GRCm39) |
F456L |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,183,247 (GRCm39) |
R709W |
probably damaging |
Het |
Nop14 |
T |
C |
5: 34,807,951 (GRCm39) |
N337S |
probably damaging |
Het |
Npbwr1 |
A |
G |
1: 5,987,155 (GRCm39) |
Y120H |
probably damaging |
Het |
Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
Oxsm |
A |
T |
14: 16,242,079 (GRCm38) |
V230E |
probably damaging |
Het |
Paox |
G |
A |
7: 139,713,941 (GRCm39) |
G234R |
probably damaging |
Het |
Polq |
C |
T |
16: 36,881,120 (GRCm39) |
H1095Y |
probably benign |
Het |
Rad51c |
T |
C |
11: 87,293,572 (GRCm39) |
T77A |
probably damaging |
Het |
Ryr3 |
C |
A |
2: 112,624,815 (GRCm39) |
V2202F |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Snx27 |
T |
C |
3: 94,410,794 (GRCm39) |
H452R |
probably benign |
Het |
Son |
C |
T |
16: 91,456,250 (GRCm39) |
H1666Y |
probably damaging |
Het |
Spata25 |
C |
A |
2: 164,669,408 (GRCm39) |
W201L |
possibly damaging |
Het |
Spint2 |
A |
G |
7: 28,963,097 (GRCm39) |
V67A |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,691,268 (GRCm39) |
Y322C |
probably benign |
Het |
Synm |
T |
C |
7: 67,385,109 (GRCm39) |
Y409C |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tpm1 |
T |
C |
9: 66,930,649 (GRCm39) |
N283D |
probably benign |
Het |
Trpv6 |
T |
C |
6: 41,602,432 (GRCm39) |
D318G |
probably damaging |
Het |
Ube2j2 |
A |
G |
4: 156,033,543 (GRCm39) |
D39G |
probably damaging |
Het |
Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
Zfp445 |
T |
A |
9: 122,681,002 (GRCm39) |
M980L |
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 |
|
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 |
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'- TTGGCCATGTTTGGATAGGCAATC -3'
(R):5'- CTATGGCCATATACTGATCCTAGATAG -3'
Sequencing Primer
(F):5'- GGATAGGCAATCAATTTACCATCC -3'
(R):5'- TACCTGGCTTCATGTCCA -3'
|
Posted On |
2015-06-10 |