Incidental Mutation 'R7103:Vwde'
| ID |
550987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwde
|
| Ensembl Gene |
ENSMUSG00000079679 |
| Gene Name |
von Willebrand factor D and EGF domains |
| Synonyms |
LOC232585 |
| MMRRC Submission |
045195-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R7103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13215799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 86
(M86L)
|
| 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: M86L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: M86L
| 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: M86L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: M86L
| 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 |
|
| Meta Mutation Damage Score |
0.0850 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,628,181 (GRCm39) |
T294A |
probably damaging |
Het |
| Adamtsl2 |
G |
A |
2: 26,997,473 (GRCm39) |
V893I |
probably damaging |
Het |
| Amph |
T |
A |
13: 19,333,908 (GRCm39) |
D656E |
probably benign |
Het |
| Aoah |
T |
C |
13: 21,207,485 (GRCm39) |
F568S |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,747,425 (GRCm39) |
G236S |
probably damaging |
Het |
| Brd3 |
T |
A |
2: 27,340,406 (GRCm39) |
Q601L |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,379,426 (GRCm39) |
E524G |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,267,853 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
C |
A |
16: 64,299,120 (GRCm39) |
V415F |
unknown |
Het |
| Dmp1 |
A |
T |
5: 104,359,729 (GRCm39) |
D135V |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,786,436 (GRCm39) |
|
probably null |
Het |
| Endou |
A |
G |
15: 97,616,810 (GRCm39) |
S238P |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,881,651 (GRCm39) |
E779D |
unknown |
Het |
| Fcgbp |
A |
G |
7: 27,784,387 (GRCm39) |
E149G |
probably benign |
Het |
| G6pc1 |
C |
A |
11: 101,265,413 (GRCm39) |
|
probably null |
Het |
| Gmeb1 |
T |
C |
4: 131,962,179 (GRCm39) |
H160R |
probably damaging |
Het |
| Gramd1b |
T |
C |
9: 40,312,902 (GRCm39) |
Y22C |
unknown |
Het |
| Hcrtr2 |
C |
T |
9: 76,161,793 (GRCm39) |
G199D |
probably benign |
Het |
| Hoxb2 |
T |
C |
11: 96,244,447 (GRCm39) |
F353L |
possibly damaging |
Het |
| Itpr2 |
C |
A |
6: 146,226,572 (GRCm39) |
V1391F |
probably damaging |
Het |
| Jakmip2 |
T |
A |
18: 43,673,648 (GRCm39) |
|
probably null |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,164 (GRCm39) |
Y88C |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,005,507 (GRCm39) |
Y89C |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,827,174 (GRCm39) |
K892N |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,664,936 (GRCm39) |
S646T |
probably benign |
Het |
| Lig3 |
T |
A |
11: 82,688,138 (GRCm39) |
M709K |
probably benign |
Het |
| Mindy3 |
C |
A |
2: 12,405,885 (GRCm39) |
A137S |
possibly damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,196,057 (GRCm39) |
E569G |
possibly damaging |
Het |
| Misp |
T |
A |
10: 79,662,999 (GRCm39) |
L472Q |
probably damaging |
Het |
| Mrps5 |
A |
T |
2: 127,443,330 (GRCm39) |
T303S |
probably damaging |
Het |
| Msh3 |
T |
G |
13: 92,411,308 (GRCm39) |
I630L |
probably benign |
Het |
| Muc21 |
C |
A |
17: 35,932,432 (GRCm39) |
A585S |
unknown |
Het |
| Myo16 |
A |
G |
8: 10,619,673 (GRCm39) |
Y1408C |
unknown |
Het |
| N4bp2 |
T |
C |
5: 65,964,189 (GRCm39) |
V746A |
probably benign |
Het |
| Oga |
G |
A |
19: 45,771,605 (GRCm39) |
|
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,000,827 (GRCm39) |
I243T |
possibly damaging |
Het |
| Or4d11 |
A |
G |
19: 12,013,752 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5p56 |
A |
G |
7: 107,589,805 (GRCm39) |
T78A |
possibly damaging |
Het |
| Ostf1 |
C |
T |
19: 18,573,715 (GRCm39) |
M44I |
probably null |
Het |
| Pik3c2b |
T |
G |
1: 133,033,712 (GRCm39) |
L1572R |
probably damaging |
Het |
| Pilra |
T |
C |
5: 137,829,488 (GRCm39) |
D192G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,437,027 (GRCm39) |
I3462V |
probably benign |
Het |
| Plekhh1 |
A |
G |
12: 79,113,429 (GRCm39) |
D619G |
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,297 (GRCm39) |
R446C |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,174,718 (GRCm39) |
Y797N |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,500,084 (GRCm39) |
D521G |
probably damaging |
Het |
| Rnf17 |
T |
G |
14: 56,708,763 (GRCm39) |
F728V |
possibly damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,218,787 (GRCm39) |
S463P |
probably damaging |
Het |
| Slc4a1 |
A |
T |
11: 102,244,693 (GRCm39) |
I634K |
probably damaging |
Het |
| Slc4a1ap |
T |
C |
5: 31,701,201 (GRCm39) |
V634A |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,800,583 (GRCm39) |
M441V |
probably benign |
Het |
| Teddm3 |
A |
C |
16: 20,971,729 (GRCm39) |
L280* |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,645,517 (GRCm39) |
|
probably null |
Het |
| Tom1l1 |
T |
C |
11: 90,561,907 (GRCm39) |
|
probably null |
Het |
| Topors |
C |
T |
4: 40,261,706 (GRCm39) |
G526D |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,790,911 (GRCm39) |
I649F |
possibly damaging |
Het |
| Ttc16 |
T |
A |
2: 32,664,440 (GRCm39) |
M66L |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,985,232 (GRCm39) |
F1619L |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,842,062 (GRCm39) |
A2619E |
|
Het |
| Vps8 |
G |
A |
16: 21,345,191 (GRCm39) |
R838H |
probably damaging |
Het |
| Zfp64 |
A |
T |
2: 168,768,357 (GRCm39) |
D418E |
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,222,606 (GRCm39) |
P362S |
possibly damaging |
Het |
| Zglp1 |
T |
C |
9: 20,977,368 (GRCm39) |
E149G |
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 |
|
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'- ACAGTTTCTTACAGACACAGGG -3'
(R):5'- TCCTGATATGTTGGCTGATTTAAC -3'
Sequencing Primer
(F):5'- CAGTTTCTTACAGACACAGGGATTTG -3'
(R):5'- ACCACTATTAGGATGCTGGGATCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation