Incidental Mutation 'R8557:Vwde'
| ID |
660153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwde
|
| Ensembl Gene |
ENSMUSG00000079679 |
| Gene Name |
von Willebrand factor D and EGF domains |
| Synonyms |
LOC232585 |
| MMRRC Submission |
068520-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R8557 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13193136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 401
(V401E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054530]
[ENSMUST00000203074]
|
| AlphaFold |
Q6DFV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054530
AA Change: V401E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: V401E
| 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 |
possibly damaging
Transcript: ENSMUST00000203074
AA Change: V401E
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: V401E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
C |
5: 64,055,954 (GRCm39) |
V230A |
probably benign |
Het |
| Ablim2 |
A |
T |
5: 35,985,483 (GRCm39) |
H260L |
probably damaging |
Het |
| Acp4 |
C |
T |
7: 43,905,272 (GRCm39) |
|
probably null |
Het |
| Acvr2b |
G |
T |
9: 119,261,654 (GRCm39) |
V416L |
probably damaging |
Het |
| Adipoq |
A |
T |
16: 22,965,430 (GRCm39) |
|
probably benign |
Het |
| Amhr2 |
A |
G |
15: 102,362,847 (GRCm39) |
Q538R |
probably benign |
Het |
| Apoh |
C |
T |
11: 108,300,062 (GRCm39) |
T237I |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,384,494 (GRCm39) |
T97I |
probably benign |
Het |
| Atg16l2 |
A |
T |
7: 100,939,863 (GRCm39) |
H499Q |
probably benign |
Het |
| Bicdl2 |
G |
A |
17: 23,886,536 (GRCm39) |
R375H |
probably benign |
Het |
| C3 |
T |
C |
17: 57,531,383 (GRCm39) |
T304A |
probably benign |
Het |
| Cast |
A |
T |
13: 74,852,301 (GRCm39) |
D647E |
probably damaging |
Het |
| Chrm2 |
T |
C |
6: 36,501,010 (GRCm39) |
V289A |
probably benign |
Het |
| Clock |
T |
C |
5: 76,377,217 (GRCm39) |
D694G |
probably damaging |
Het |
| Cyp4a31 |
C |
T |
4: 115,427,438 (GRCm39) |
R215C |
possibly damaging |
Het |
| Dctn2 |
T |
C |
10: 127,114,062 (GRCm39) |
L334P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,842,247 (GRCm39) |
I4444T |
probably benign |
Het |
| Egf |
C |
A |
3: 129,548,600 (GRCm39) |
R5L |
unknown |
Het |
| Ercc1 |
A |
G |
7: 19,082,480 (GRCm39) |
N11S |
probably benign |
Het |
| Eri3 |
T |
C |
4: 117,472,520 (GRCm39) |
S113P |
possibly damaging |
Het |
| Fasn |
A |
G |
11: 120,706,610 (GRCm39) |
V958A |
probably benign |
Het |
| Fgf10 |
A |
G |
13: 118,918,132 (GRCm39) |
K140R |
probably benign |
Het |
| Gfra2 |
G |
A |
14: 71,214,737 (GRCm39) |
M163I |
probably benign |
Het |
| Gm14403 |
T |
C |
2: 177,201,354 (GRCm39) |
I191T |
probably damaging |
Het |
| Hdlbp |
T |
A |
1: 93,341,219 (GRCm39) |
E977D |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,448,714 (GRCm39) |
N354S |
possibly damaging |
Het |
| Hpgds |
A |
T |
6: 65,096,999 (GRCm39) |
I170N |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,296,379 (GRCm39) |
V356A |
possibly damaging |
Het |
| Map4 |
A |
G |
9: 109,893,370 (GRCm39) |
|
probably null |
Het |
| Mettl13 |
C |
T |
1: 162,371,921 (GRCm39) |
G316D |
possibly damaging |
Het |
| Mia2 |
T |
A |
12: 59,148,274 (GRCm39) |
L45I |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 102,996,543 (GRCm39) |
|
probably null |
Het |
| Mob3a |
G |
T |
10: 80,527,008 (GRCm39) |
R106S |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,040,660 (GRCm39) |
F737I |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,703,081 (GRCm39) |
A2053T |
probably benign |
Het |
| Myrip |
A |
G |
9: 120,246,252 (GRCm39) |
S127G |
probably benign |
Het |
| Naaladl2 |
T |
A |
3: 24,262,528 (GRCm39) |
K395I |
probably benign |
Het |
| Nedd4l |
A |
T |
18: 65,336,986 (GRCm39) |
M678L |
probably benign |
Het |
| Nefh |
A |
T |
11: 4,891,233 (GRCm39) |
I462N |
probably damaging |
Het |
| Nfe2 |
A |
G |
15: 103,157,025 (GRCm39) |
M322T |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2z2 |
T |
A |
11: 58,346,562 (GRCm39) |
D71V |
probably damaging |
Het |
| Or56b1 |
T |
A |
7: 104,285,103 (GRCm39) |
V74E |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,528,495 (GRCm39) |
N288S |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,444,725 (GRCm39) |
C2257Y |
probably damaging |
Het |
| Sec23a |
G |
T |
12: 59,052,056 (GRCm39) |
Q90K |
probably damaging |
Het |
| Shisal2a |
T |
A |
4: 108,225,085 (GRCm39) |
N159I |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,712,685 (GRCm39) |
T61A |
possibly damaging |
Het |
| Slc39a11 |
C |
A |
11: 113,141,385 (GRCm39) |
A234S |
probably damaging |
Het |
| Smg6 |
C |
A |
11: 75,047,064 (GRCm39) |
N1252K |
probably damaging |
Het |
| Spata2 |
A |
T |
2: 167,326,227 (GRCm39) |
D197E |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,842,761 (GRCm39) |
F59L |
probably damaging |
Het |
| Tectb |
T |
A |
19: 55,181,105 (GRCm39) |
|
probably benign |
Het |
| Tnnc1 |
G |
A |
14: 30,932,562 (GRCm39) |
V82I |
probably damaging |
Het |
| Traf7 |
A |
T |
17: 24,729,015 (GRCm39) |
V513D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,399,908 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
A |
T |
17: 22,790,910 (GRCm39) |
Y129* |
probably null |
Het |
| Vrtn |
T |
A |
12: 84,696,690 (GRCm39) |
F480Y |
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,246,649 (GRCm39) |
I664F |
probably damaging |
Het |
| Zfp655 |
A |
T |
5: 145,180,835 (GRCm39) |
N231I |
probably benign |
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 |
|
R5472:Vwde
|
UTSW |
6 |
13,193,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- AGGCAGTTGTTAGCTGCCTC -3'
(R):5'- CACATCATTTTCTTACTGGATGTCG -3'
Sequencing Primer
(F):5'- GTTAGCTGCCTCAGATGACACTAG -3'
(R):5'- AGTCTGTTTCTTATCAACCAAGTAAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation