Incidental Mutation 'R5472:Vwde'
| ID |
433862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwde
|
| Ensembl Gene |
ENSMUSG00000079679 |
| Gene Name |
von Willebrand factor D and EGF domains |
| Synonyms |
LOC232585 |
| MMRRC Submission |
043033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R5472 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13193117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 407
(D407E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054530]
[ENSMUST00000203074]
|
| AlphaFold |
Q6DFV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054530
AA Change: D407E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: D407E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Blast:ZP
|
58 |
163 |
1e-5 |
BLAST |
|
low complexity region
|
192 |
199 |
N/A |
INTRINSIC |
|
VWD
|
420 |
588 |
1.51e-4 |
SMART |
|
low complexity region
|
638 |
651 |
N/A |
INTRINSIC |
|
Blast:EGF_like
|
890 |
918 |
2e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203074
AA Change: D407E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: D407E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
199 |
N/A |
INTRINSIC |
|
VWD
|
420 |
588 |
7.4e-7 |
SMART |
|
low complexity region
|
638 |
651 |
N/A |
INTRINSIC |
|
EGF_like
|
890 |
918 |
1.5e-1 |
SMART |
|
EGF
|
1166 |
1217 |
8.5e-6 |
SMART |
|
EGF_like
|
1182 |
1233 |
2.7e-2 |
SMART |
|
EGF
|
1222 |
1254 |
9.7e-7 |
SMART |
|
EGF_CA
|
1256 |
1295 |
5.3e-12 |
SMART |
|
EGF
|
1446 |
1483 |
5e-2 |
SMART |
|
EGF
|
1485 |
1514 |
3.8e-3 |
SMART |
|
EGF
|
1517 |
1546 |
3.6e-3 |
SMART |
|
EGF
|
1549 |
1578 |
8e-7 |
SMART |
|
EGF
|
1581 |
1610 |
3.4e-3 |
SMART |
|
EGF
|
1613 |
1642 |
1.5e-3 |
SMART |
|
EGF
|
1645 |
1674 |
1.1e-5 |
SMART |
|
EGF
|
1677 |
1706 |
2.5e-4 |
SMART |
|
EGF
|
1709 |
1738 |
2.5e-3 |
SMART |
|
EGF
|
1741 |
1770 |
1.8e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204339
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
T |
C |
2: 25,469,714 (GRCm39) |
T66A |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,750,869 (GRCm39) |
N506S |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,777,197 (GRCm39) |
H548L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,615,407 (GRCm39) |
V1328A |
possibly damaging |
Het |
| Carmil1 |
C |
T |
13: 24,339,454 (GRCm39) |
V47I |
probably damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,048 (GRCm39) |
T76K |
probably benign |
Het |
| Col16a1 |
T |
C |
4: 129,986,564 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,455,703 (GRCm39) |
D583G |
probably benign |
Het |
| Cxcr4 |
C |
A |
1: 128,517,362 (GRCm39) |
A100S |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,419,677 (GRCm39) |
C305F |
probably damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,107,055 (GRCm39) |
V308A |
probably benign |
Het |
| Gm11733 |
A |
T |
11: 117,375,322 (GRCm39) |
I24L |
unknown |
Het |
| Gm973 |
A |
G |
1: 59,667,446 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,109,089 (GRCm39) |
F1057I |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,394,838 (GRCm39) |
|
probably null |
Het |
| Ighv1-20 |
A |
T |
12: 114,687,471 (GRCm39) |
V91E |
probably damaging |
Het |
| Inhba |
A |
G |
13: 16,201,371 (GRCm39) |
E311G |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,526,108 (GRCm39) |
|
probably null |
Het |
| Jag1 |
C |
A |
2: 136,926,915 (GRCm39) |
C948F |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,625 (GRCm39) |
I402T |
possibly damaging |
Het |
| Kcnh8 |
A |
T |
17: 53,284,844 (GRCm39) |
Q938L |
possibly damaging |
Het |
| Lrsam1 |
ACC |
AC |
2: 32,835,870 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,343,854 (GRCm39) |
T2123A |
probably benign |
Het |
| Mdfic2 |
A |
T |
6: 98,215,237 (GRCm39) |
C129S |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Msh6 |
G |
A |
17: 88,291,989 (GRCm39) |
R248Q |
possibly damaging |
Het |
| Odf2l |
G |
T |
3: 144,852,627 (GRCm39) |
R457L |
probably benign |
Het |
| Or6c69c |
A |
T |
10: 129,910,898 (GRCm39) |
L206F |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,386,856 (GRCm39) |
V318A |
possibly damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,075,973 (GRCm39) |
T267I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,103,727 (GRCm39) |
D133G |
probably benign |
Het |
| Prpf8 |
A |
C |
11: 75,394,469 (GRCm39) |
K1801N |
possibly damaging |
Het |
| Raf1 |
A |
G |
6: 115,603,667 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
C |
A |
17: 32,615,643 (GRCm39) |
L374F |
probably damaging |
Het |
| S1pr3 |
T |
A |
13: 51,573,683 (GRCm39) |
V288D |
probably damaging |
Het |
| Setd7 |
G |
A |
3: 51,428,886 (GRCm39) |
P315S |
probably benign |
Het |
| Slx4 |
C |
T |
16: 3,809,404 (GRCm39) |
A364T |
probably benign |
Het |
| Sp7 |
G |
A |
15: 102,267,749 (GRCm39) |
T19I |
probably benign |
Het |
| Tlr9 |
T |
A |
9: 106,101,512 (GRCm39) |
C268S |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,394 (GRCm39) |
D351E |
possibly damaging |
Het |
| Tmem45b |
T |
A |
9: 31,339,340 (GRCm39) |
D211V |
possibly damaging |
Het |
| Tns3 |
A |
G |
11: 8,401,092 (GRCm39) |
S1069P |
probably benign |
Het |
| Tsnax |
A |
G |
8: 125,742,501 (GRCm39) |
I77V |
probably benign |
Het |
| Txndc5 |
G |
A |
13: 38,697,101 (GRCm39) |
L79F |
possibly damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,684,548 (GRCm39) |
E14G |
probably benign |
Het |
| Vmn2r28 |
C |
T |
7: 5,490,943 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
T |
A |
12: 9,066,619 (GRCm39) |
M749K |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,928,046 (GRCm39) |
C462* |
probably null |
Het |
|
| Other mutations in Vwde |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00725:Vwde
|
APN |
6 |
13,187,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01391:Vwde
|
APN |
6 |
13,190,526 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01432:Vwde
|
APN |
6 |
13,193,239 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01611:Vwde
|
APN |
6 |
13,219,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01835:Vwde
|
APN |
6 |
13,186,823 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01993:Vwde
|
APN |
6 |
13,219,977 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01997:Vwde
|
APN |
6 |
13,215,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02390:Vwde
|
APN |
6 |
13,190,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02612:Vwde
|
APN |
6 |
13,187,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02723:Vwde
|
APN |
6 |
13,205,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02731:Vwde
|
APN |
6 |
13,192,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Vwde
|
APN |
6 |
13,187,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02981:Vwde
|
APN |
6 |
13,193,112 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03031:Vwde
|
APN |
6 |
13,208,381 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03180:Vwde
|
APN |
6 |
13,205,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03182:Vwde
|
APN |
6 |
13,187,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
willy_brandt
|
UTSW |
6 |
13,208,404 (GRCm39) |
splice site |
probably null |
|
|
C9142:Vwde
|
UTSW |
6 |
13,168,053 (GRCm39) |
splice site |
probably benign |
|
|
R0089:Vwde
|
UTSW |
6 |
13,220,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Vwde
|
UTSW |
6 |
13,193,125 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0355:Vwde
|
UTSW |
6 |
13,187,806 (GRCm39) |
splice site |
probably benign |
|
|
R0455:Vwde
|
UTSW |
6 |
13,187,528 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0465:Vwde
|
UTSW |
6 |
13,215,805 (GRCm39) |
splice site |
probably benign |
|
|
R0946:Vwde
|
UTSW |
6 |
13,187,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1087:Vwde
|
UTSW |
6 |
13,186,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1236:Vwde
|
UTSW |
6 |
13,187,152 (GRCm39) |
nonsense |
probably null |
|
|
R1738:Vwde
|
UTSW |
6 |
13,190,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Vwde
|
UTSW |
6 |
13,187,454 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2014:Vwde
|
UTSW |
6 |
13,208,337 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2015:Vwde
|
UTSW |
6 |
13,208,337 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2303:Vwde
|
UTSW |
6 |
13,215,806 (GRCm39) |
splice site |
probably benign |
|
|
R3439:Vwde
|
UTSW |
6 |
13,208,374 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3688:Vwde
|
UTSW |
6 |
13,186,891 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4457:Vwde
|
UTSW |
6 |
13,196,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Vwde
|
UTSW |
6 |
13,205,851 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4849:Vwde
|
UTSW |
6 |
13,196,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4850:Vwde
|
UTSW |
6 |
13,196,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4851:Vwde
|
UTSW |
6 |
13,196,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4853:Vwde
|
UTSW |
6 |
13,215,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Vwde
|
UTSW |
6 |
13,187,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Vwde
|
UTSW |
6 |
13,192,641 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5057:Vwde
|
UTSW |
6 |
13,192,641 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5060:Vwde
|
UTSW |
6 |
13,208,323 (GRCm39) |
splice site |
probably null |
|
|
R5126:Vwde
|
UTSW |
6 |
13,187,259 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5154:Vwde
|
UTSW |
6 |
13,215,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5277:Vwde
|
UTSW |
6 |
13,186,995 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5432:Vwde
|
UTSW |
6 |
13,190,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Vwde
|
UTSW |
6 |
13,190,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Vwde
|
UTSW |
6 |
13,186,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5791:Vwde
|
UTSW |
6 |
13,195,985 (GRCm39) |
nonsense |
probably null |
|
|
R6045:Vwde
|
UTSW |
6 |
13,219,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6262:Vwde
|
UTSW |
6 |
13,205,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6482:Vwde
|
UTSW |
6 |
13,205,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6500:Vwde
|
UTSW |
6 |
13,208,404 (GRCm39) |
splice site |
probably null |
|
|
R6562:Vwde
|
UTSW |
6 |
13,193,122 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6905:Vwde
|
UTSW |
6 |
13,205,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Vwde
|
UTSW |
6 |
13,186,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7103:Vwde
|
UTSW |
6 |
13,215,799 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7356:Vwde
|
UTSW |
6 |
13,192,641 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7434:Vwde
|
UTSW |
6 |
13,187,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7492:Vwde
|
UTSW |
6 |
13,204,980 (GRCm39) |
missense |
probably null |
1.00 |
|
R8026:Vwde
|
UTSW |
6 |
13,205,782 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8544:Vwde
|
UTSW |
6 |
13,187,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8557:Vwde
|
UTSW |
6 |
13,193,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Vwde
|
UTSW |
6 |
13,195,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9112:Vwde
|
UTSW |
6 |
13,205,051 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAGCTGCCTCAGATGACACTAG -3'
(R):5'- CCTAAATAGGTAAAGAACACCTTGG -3'
Sequencing Primer
(F):5'- TGACACTAGCAACTAAACTTGAGTC -3'
(R):5'- GAACACCTTGGTTTAAATTTGGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation