Incidental Mutation 'R4457:Vwde'
| ID |
329946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwde
|
| Ensembl Gene |
ENSMUSG00000079679 |
| Gene Name |
von Willebrand factor D and EGF domains |
| Synonyms |
LOC232585 |
| MMRRC Submission |
041717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R4457 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13196100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 308
(I308M)
|
| 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: I308M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: I308M
| 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: I308M
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: I308M
| 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
|
| Meta Mutation Damage Score |
0.2648 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
A |
G |
16: 90,351,260 (GRCm39) |
|
noncoding transcript |
Het |
| 1700025G04Rik |
T |
C |
1: 151,796,805 (GRCm39) |
R87G |
probably damaging |
Het |
| 9030619P08Rik |
T |
A |
15: 75,303,249 (GRCm39) |
|
noncoding transcript |
Het |
| Akap13 |
A |
G |
7: 75,389,213 (GRCm39) |
D2377G |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,027 (GRCm39) |
S593P |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,768,215 (GRCm39) |
K181R |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,443,427 (GRCm39) |
I383T |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,948,884 (GRCm39) |
D398G |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,537,464 (GRCm39) |
Y2238H |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,779,781 (GRCm39) |
N3161S |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 31,032,125 (GRCm39) |
H4148Q |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,766,321 (GRCm39) |
S397G |
possibly damaging |
Het |
| Eya4 |
A |
T |
10: 22,992,566 (GRCm39) |
S462R |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Frrs1 |
G |
A |
3: 116,690,377 (GRCm39) |
V7I |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,073 (GRCm39) |
M437K |
probably benign |
Het |
| Gm2840 |
T |
G |
5: 96,322,187 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4956 |
A |
G |
1: 21,368,319 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
A |
G |
9: 4,427,074 (GRCm39) |
W789R |
probably damaging |
Het |
| Hoxb5 |
A |
G |
11: 96,194,546 (GRCm39) |
D36G |
probably damaging |
Het |
| Hps5 |
A |
T |
7: 46,433,037 (GRCm39) |
C228S |
probably benign |
Het |
| Hspa4 |
A |
T |
11: 53,171,395 (GRCm39) |
C270S |
probably damaging |
Het |
| Htra4 |
C |
A |
8: 25,528,674 (GRCm39) |
A73S |
possibly damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,723,347 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,479,673 (GRCm39) |
H131Y |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,422,129 (GRCm39) |
|
probably null |
Het |
| Lamp3 |
T |
A |
16: 19,492,279 (GRCm39) |
M322L |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,373,011 (GRCm39) |
V37A |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,111,441 (GRCm39) |
G1627R |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,743,643 (GRCm39) |
I235V |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,128 (GRCm39) |
|
probably null |
Het |
| Ndufa12 |
A |
T |
10: 94,056,680 (GRCm39) |
K136M |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,392,944 (GRCm39) |
L146P |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,497,427 (GRCm39) |
S268T |
probably benign |
Het |
| Or51g2 |
C |
T |
7: 102,622,734 (GRCm39) |
S155N |
probably damaging |
Het |
| Or5d44 |
A |
G |
2: 88,141,173 (GRCm39) |
|
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,073,599 (GRCm39) |
D410G |
probably damaging |
Het |
| Pcyox1l |
T |
A |
18: 61,830,939 (GRCm39) |
N311I |
probably benign |
Het |
| Pif1 |
A |
G |
9: 65,495,058 (GRCm39) |
|
probably benign |
Het |
| Pkp1 |
CTCTTCTT |
CTCTT |
1: 135,803,362 (GRCm39) |
|
probably null |
Het |
| Pogz |
G |
A |
3: 94,763,374 (GRCm39) |
V49I |
probably benign |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,705 (GRCm39) |
Y189C |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Sgms2 |
A |
C |
3: 131,118,665 (GRCm39) |
Y273D |
probably damaging |
Het |
| Slc25a10 |
G |
A |
11: 120,387,915 (GRCm39) |
V203I |
probably benign |
Het |
| Slc4a2 |
T |
A |
5: 24,639,328 (GRCm39) |
|
probably benign |
Het |
| Tbc1d13 |
A |
G |
2: 30,025,450 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 46,007,526 (GRCm39) |
N526S |
probably benign |
Het |
| Tet2 |
C |
T |
3: 133,191,324 (GRCm39) |
D1037N |
possibly damaging |
Het |
| Thrb |
T |
A |
14: 18,011,187 (GRCm38) |
W188R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,394,078 (GRCm39) |
I551L |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,409,778 (GRCm39) |
I3488V |
unknown |
Het |
| Zgrf1 |
A |
T |
3: 127,389,578 (GRCm39) |
I375F |
probably damaging |
Het |
| Zic4 |
A |
G |
9: 91,261,315 (GRCm39) |
K183R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGACTCTCTGGAAAACAG -3'
(R):5'- ACTGGTTTGATGTTAACTGACCTTG -3'
Sequencing Primer
(F):5'- CGAAGTGTGTTACCTTGTTC -3'
(R):5'- GGATGATTAAGTTATTAAAGGCTCCC -3'
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| Posted On |
2015-07-21 |
Incidental Mutation