Incidental Mutation 'IGL03180:Vwde'
| ID |
412208 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vwde
|
| Ensembl Gene |
ENSMUSG00000079679 |
| Gene Name |
von Willebrand factor D and EGF domains |
| Synonyms |
LOC232585 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
IGL03180
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13205764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 261
(D261G)
|
| 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: D261G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: D261G
| 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: D261G
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: D261G
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
C |
3: 97,082,951 (GRCm39) |
Y321H |
probably benign |
Het |
| Adam28 |
T |
A |
14: 68,874,883 (GRCm39) |
I265L |
probably damaging |
Het |
| Adcy8 |
T |
C |
15: 64,655,799 (GRCm39) |
D560G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,574,743 (GRCm39) |
M79T |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,602,895 (GRCm39) |
|
probably null |
Het |
| Aspn |
C |
T |
13: 49,716,991 (GRCm39) |
R256W |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,966,226 (GRCm39) |
V4051A |
probably benign |
Het |
| Cfap46 |
G |
A |
7: 139,183,168 (GRCm39) |
L2584F |
unknown |
Het |
| Chdh |
T |
A |
14: 29,756,559 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,433,255 (GRCm39) |
T245A |
probably benign |
Het |
| Clec4a1 |
G |
A |
6: 122,901,777 (GRCm39) |
V70I |
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,764,157 (GRCm39) |
S536T |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,777,465 (GRCm39) |
H3694Q |
probably damaging |
Het |
| Dntt |
T |
A |
19: 41,017,990 (GRCm39) |
F38Y |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,182,485 (GRCm39) |
S706G |
probably benign |
Het |
| Eif4ebp2 |
T |
C |
10: 61,269,589 (GRCm39) |
E117G |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,075,350 (GRCm39) |
I609T |
probably damaging |
Het |
| Esam |
G |
A |
9: 37,445,866 (GRCm39) |
G135S |
probably damaging |
Het |
| Fut7 |
C |
A |
2: 25,315,465 (GRCm39) |
A241D |
possibly damaging |
Het |
| Grin2d |
T |
A |
7: 45,502,753 (GRCm39) |
K706M |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,762,742 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,220,087 (GRCm39) |
T22A |
probably damaging |
Het |
| Hadh |
T |
C |
3: 131,065,533 (GRCm39) |
I42V |
probably benign |
Het |
| Iqsec3 |
T |
A |
6: 121,390,467 (GRCm39) |
|
probably benign |
Het |
| Izumo3 |
G |
A |
4: 92,034,524 (GRCm39) |
|
probably benign |
Het |
| Ldlrad1 |
G |
T |
4: 107,075,032 (GRCm39) |
C193F |
probably damaging |
Het |
| Lgals4 |
G |
A |
7: 28,537,053 (GRCm39) |
G118R |
probably damaging |
Het |
| Map4k1 |
A |
C |
7: 28,687,510 (GRCm39) |
E136A |
probably damaging |
Het |
| Mapk8ip1 |
G |
T |
2: 92,217,257 (GRCm39) |
P346Q |
possibly damaging |
Het |
| Mrtfb |
A |
G |
16: 13,216,196 (GRCm39) |
K303E |
probably damaging |
Het |
| Nlrp14 |
T |
A |
7: 106,781,833 (GRCm39) |
H343Q |
probably benign |
Het |
| Ogg1 |
T |
G |
6: 113,310,455 (GRCm39) |
|
probably null |
Het |
| Or12k8 |
C |
T |
2: 36,975,722 (GRCm39) |
V13M |
possibly damaging |
Het |
| Or5m10 |
A |
T |
2: 85,717,740 (GRCm39) |
M199L |
probably benign |
Het |
| Pacc1 |
G |
T |
1: 191,071,089 (GRCm39) |
V82F |
probably damaging |
Het |
| Pafah1b1 |
A |
T |
11: 74,574,344 (GRCm39) |
C281S |
possibly damaging |
Het |
| Papss1 |
C |
T |
3: 131,313,143 (GRCm39) |
R386W |
probably damaging |
Het |
| Pex5 |
A |
G |
6: 124,390,522 (GRCm39) |
|
probably benign |
Het |
| Pibf1 |
C |
A |
14: 99,370,780 (GRCm39) |
Q261K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,933,521 (GRCm39) |
S935G |
probably benign |
Het |
| Polg |
A |
G |
7: 79,101,601 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
G |
A |
13: 48,739,553 (GRCm39) |
T626I |
probably damaging |
Het |
| Rab34 |
A |
T |
11: 78,081,144 (GRCm39) |
Y87F |
probably damaging |
Het |
| Rsrc1 |
T |
G |
3: 66,989,876 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,583,449 (GRCm39) |
N4735S |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,578 (GRCm39) |
D1437G |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,071,497 (GRCm39) |
E1229G |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,584,151 (GRCm39) |
V806D |
probably damaging |
Het |
| Sgsm2 |
A |
C |
11: 74,759,401 (GRCm39) |
|
probably null |
Het |
| Sla |
A |
G |
15: 66,661,569 (GRCm39) |
I121T |
probably benign |
Het |
| Son |
T |
C |
16: 91,453,896 (GRCm39) |
L881S |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,573 (GRCm39) |
|
probably benign |
Het |
| Stoml1 |
T |
C |
9: 58,168,200 (GRCm39) |
S304P |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,670,552 (GRCm39) |
D73G |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
| Trp53i13 |
T |
C |
11: 77,403,528 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,843 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,964,790 (GRCm39) |
K293R |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation