Incidental Mutation 'R6361:Vwa2'
| ID |
513144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa2
|
| Ensembl Gene |
ENSMUSG00000025082 |
| Gene Name |
von Willebrand factor A domain containing 2 |
| Synonyms |
Amaco |
| MMRRC Submission |
044511-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6361 (G1)
|
| Quality Score |
158.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56862848-56900510 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 56889958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026068]
|
| AlphaFold |
Q70UZ7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026068
|
| SMART Domains |
Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
VWA
|
49 |
222 |
6.9e-35 |
SMART |
|
EGF
|
297 |
332 |
2.99e-4 |
SMART |
|
VWA
|
340 |
517 |
1.26e-28 |
SMART |
|
VWA
|
528 |
705 |
1.55e-37 |
SMART |
|
EGF
|
714 |
747 |
5e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.9486 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap1 |
C |
T |
15: 64,221,672 (GRCm39) |
|
probably null |
Het |
| Cabin1 |
G |
A |
10: 75,562,699 (GRCm39) |
A29V |
possibly damaging |
Het |
| Cadps |
G |
A |
14: 12,491,778 (GRCm38) |
Q791* |
probably null |
Het |
| Cdc14b |
T |
C |
13: 64,364,023 (GRCm39) |
|
probably null |
Het |
| Cep89 |
C |
T |
7: 35,097,472 (GRCm39) |
P33S |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,807,661 (GRCm39) |
|
probably benign |
Het |
| Cln5 |
T |
A |
14: 103,313,637 (GRCm39) |
D296E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,943,902 (GRCm39) |
S1191T |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,832,455 (GRCm39) |
I480M |
probably damaging |
Het |
| Dhrs7 |
A |
C |
12: 72,711,433 (GRCm39) |
L32V |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,424,011 (GRCm39) |
T1645A |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,885,622 (GRCm39) |
T55A |
possibly damaging |
Het |
| Ercc6 |
T |
C |
14: 32,239,067 (GRCm39) |
Y52H |
probably benign |
Het |
| Fam170b |
C |
A |
14: 32,558,028 (GRCm39) |
Q288K |
unknown |
Het |
| Flt4 |
A |
G |
11: 49,521,405 (GRCm39) |
T442A |
probably benign |
Het |
| Gm19402 |
A |
T |
10: 77,525,895 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,832 (GRCm39) |
I87T |
probably damaging |
Het |
| Hspb7 |
A |
G |
4: 141,149,860 (GRCm39) |
E82G |
possibly damaging |
Het |
| Itgb3 |
A |
G |
11: 104,556,408 (GRCm39) |
K750E |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,679,655 (GRCm39) |
M155V |
probably benign |
Het |
| Marchf8 |
A |
T |
6: 116,379,062 (GRCm39) |
D332V |
probably null |
Het |
| Mst1r |
A |
G |
9: 107,793,052 (GRCm39) |
M1042V |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,587,725 (GRCm39) |
F2756L |
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,333,078 (GRCm39) |
K55* |
probably null |
Het |
| Or1j19 |
A |
G |
2: 36,676,792 (GRCm39) |
N85S |
probably damaging |
Het |
| Or4c123 |
A |
T |
2: 89,126,990 (GRCm39) |
I208N |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,940 (GRCm39) |
L115F |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,027 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g50 |
A |
C |
9: 39,648,968 (GRCm39) |
N286H |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
| Pkd2 |
C |
T |
5: 104,634,546 (GRCm39) |
R526* |
probably null |
Het |
| Polr2a |
C |
A |
11: 69,634,163 (GRCm39) |
A756S |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,581,579 (GRCm39) |
S145P |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,162,915 (GRCm39) |
N451D |
possibly damaging |
Het |
| Rundc3a |
G |
A |
11: 102,291,621 (GRCm39) |
R358Q |
probably damaging |
Het |
| Spata31g1 |
A |
T |
4: 42,972,695 (GRCm39) |
D676V |
probably benign |
Het |
| Spef1l |
T |
A |
7: 139,556,585 (GRCm39) |
D134V |
possibly damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,744,610 (GRCm39) |
K339E |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,493,052 (GRCm39) |
I723T |
probably benign |
Het |
| Zdbf2 |
A |
C |
1: 63,342,480 (GRCm39) |
R286S |
possibly damaging |
Het |
| Zfp422 |
G |
A |
6: 116,603,781 (GRCm39) |
H73Y |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,564 (GRCm39) |
H257R |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,775,175 (GRCm39) |
S1723G |
possibly damaging |
Het |
|
| Other mutations in Vwa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Vwa2
|
APN |
19 |
56,890,066 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02081:Vwa2
|
APN |
19 |
56,890,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02738:Vwa2
|
APN |
19 |
56,886,361 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
H8786:Vwa2
|
UTSW |
19 |
56,898,164 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0510:Vwa2
|
UTSW |
19 |
56,886,500 (GRCm39) |
splice site |
probably benign |
|
|
R1061:Vwa2
|
UTSW |
19 |
56,897,426 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1350:Vwa2
|
UTSW |
19 |
56,897,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Vwa2
|
UTSW |
19 |
56,869,570 (GRCm39) |
missense |
unknown |
|
|
R1403:Vwa2
|
UTSW |
19 |
56,869,570 (GRCm39) |
missense |
unknown |
|
|
R1918:Vwa2
|
UTSW |
19 |
56,897,366 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2046:Vwa2
|
UTSW |
19 |
56,894,010 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3943:Vwa2
|
UTSW |
19 |
56,897,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4278:Vwa2
|
UTSW |
19 |
56,891,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4745:Vwa2
|
UTSW |
19 |
56,895,318 (GRCm39) |
missense |
probably benign |
|
|
R5081:Vwa2
|
UTSW |
19 |
56,897,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Vwa2
|
UTSW |
19 |
56,897,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5959:Vwa2
|
UTSW |
19 |
56,869,604 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6151:Vwa2
|
UTSW |
19 |
56,891,897 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6861:Vwa2
|
UTSW |
19 |
56,890,025 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7286:Vwa2
|
UTSW |
19 |
56,897,791 (GRCm39) |
missense |
probably benign |
|
|
R7653:Vwa2
|
UTSW |
19 |
56,897,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7752:Vwa2
|
UTSW |
19 |
56,897,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Vwa2
|
UTSW |
19 |
56,886,320 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8501:Vwa2
|
UTSW |
19 |
56,897,414 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8674:Vwa2
|
UTSW |
19 |
56,875,427 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9167:Vwa2
|
UTSW |
19 |
56,899,063 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9460:Vwa2
|
UTSW |
19 |
56,886,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9526:Vwa2
|
UTSW |
19 |
56,895,208 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0020:Vwa2
|
UTSW |
19 |
56,897,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Vwa2
|
UTSW |
19 |
56,875,417 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGTCTGCCGATGAGCAG -3'
(R):5'- AGTCTGTAAGGTTCAAGGCTATTC -3'
Sequencing Primer
(F):5'- GTTTGAGGACAAGGCGTTTAG -3'
(R):5'- AAGGCTATTCCCTTGCAGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation