Incidental Mutation 'R0089:Vwde'
| ID |
20055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwde
|
| Ensembl Gene |
ENSMUSG00000079679 |
| Gene Name |
von Willebrand factor D and EGF domains |
| Synonyms |
LOC232585 |
| MMRRC Submission |
038376-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R0089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
6 |
| Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 13220004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 49
(L49R)
|
| 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: L49R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: L49R
| 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: L49R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: L49R
| 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 |
0.1427 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (82/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,282,303 (GRCm39) |
H163L |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,242,886 (GRCm39) |
V1583E |
possibly damaging |
Het |
| Ablim1 |
G |
T |
19: 57,031,463 (GRCm39) |
S654Y |
probably damaging |
Het |
| Acbd4 |
T |
C |
11: 102,994,819 (GRCm39) |
F59S |
probably damaging |
Het |
| Acot1 |
T |
C |
12: 84,063,708 (GRCm39) |
I272T |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,773,409 (GRCm39) |
D1402G |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,945,371 (GRCm39) |
F2800I |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,585,401 (GRCm39) |
E811G |
probably benign |
Het |
| Catspere2 |
C |
T |
1: 177,874,555 (GRCm39) |
P141S |
unknown |
Het |
| Ccdc106 |
A |
G |
7: 5,059,220 (GRCm39) |
|
probably null |
Het |
| Ccdc81 |
G |
T |
7: 89,542,324 (GRCm39) |
A184E |
possibly damaging |
Het |
| Cenpt |
T |
C |
8: 106,573,000 (GRCm39) |
T364A |
probably benign |
Het |
| Crybg2 |
T |
C |
4: 133,808,505 (GRCm39) |
S1060P |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,111 (GRCm39) |
T109A |
possibly damaging |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,089 (GRCm39) |
L124P |
probably benign |
Het |
| Eif1ad19 |
A |
T |
12: 87,740,283 (GRCm39) |
I92N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,849,501 (GRCm39) |
D3967G |
probably benign |
Het |
| Fbxo21 |
T |
A |
5: 118,146,208 (GRCm39) |
F610L |
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,494,878 (GRCm39) |
D341G |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,342,507 (GRCm39) |
H1600L |
possibly damaging |
Het |
| Fry |
A |
T |
5: 150,263,892 (GRCm39) |
K133N |
possibly damaging |
Het |
| Gm10647 |
A |
G |
9: 66,705,612 (GRCm39) |
|
probably benign |
Het |
| Gmps |
T |
C |
3: 63,906,119 (GRCm39) |
F472S |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,884,192 (GRCm39) |
|
probably benign |
Het |
| Grm6 |
G |
A |
11: 50,750,792 (GRCm39) |
G652S |
probably damaging |
Het |
| Heca |
G |
T |
10: 17,783,848 (GRCm39) |
D468E |
probably damaging |
Het |
| Heg1 |
C |
T |
16: 33,583,985 (GRCm39) |
S1033L |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,487,094 (GRCm39) |
S12P |
probably damaging |
Het |
| Impdh1 |
G |
T |
6: 29,206,325 (GRCm39) |
H195N |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,649,972 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,251,520 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
G |
A |
11: 105,899,848 (GRCm39) |
C39Y |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,143,837 (GRCm39) |
S1364P |
probably damaging |
Het |
| Lins1 |
T |
A |
7: 66,361,796 (GRCm39) |
|
probably benign |
Het |
| Lrpap1 |
C |
T |
5: 35,252,232 (GRCm39) |
V328M |
possibly damaging |
Het |
| Lyn |
T |
G |
4: 3,748,768 (GRCm39) |
L249V |
probably benign |
Het |
| Mpp7 |
A |
G |
18: 7,439,555 (GRCm39) |
|
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,765,696 (GRCm39) |
F400L |
possibly damaging |
Het |
| Mto1 |
G |
A |
9: 78,381,154 (GRCm39) |
S666N |
probably benign |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Nsg1 |
T |
C |
5: 38,312,974 (GRCm39) |
E75G |
probably benign |
Het |
| Nsun4 |
A |
G |
4: 115,892,970 (GRCm39) |
M283T |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,890,888 (GRCm39) |
S7215P |
unknown |
Het |
| Or11j4 |
T |
C |
14: 50,630,321 (GRCm39) |
I36T |
probably benign |
Het |
| Or13a20 |
T |
C |
7: 140,232,224 (GRCm39) |
S111P |
probably damaging |
Het |
| Or1j12 |
G |
A |
2: 36,343,107 (GRCm39) |
R170K |
probably benign |
Het |
| Or2y13 |
G |
A |
11: 49,415,033 (GRCm39) |
S161N |
possibly damaging |
Het |
| Or52e4 |
T |
A |
7: 104,706,297 (GRCm39) |
Y281* |
probably null |
Het |
| Or5al1 |
A |
C |
2: 85,989,918 (GRCm39) |
S265R |
possibly damaging |
Het |
| Or9m1b |
T |
C |
2: 87,836,331 (GRCm39) |
I264V |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,994,869 (GRCm39) |
F563S |
probably benign |
Het |
| Pik3c3 |
T |
A |
18: 30,436,131 (GRCm39) |
|
probably benign |
Het |
| Pitrm1 |
A |
T |
13: 6,605,675 (GRCm39) |
K207N |
probably damaging |
Het |
| Prdm10 |
C |
T |
9: 31,227,526 (GRCm39) |
R44C |
probably damaging |
Het |
| Rab40c |
A |
T |
17: 26,104,122 (GRCm39) |
I90N |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,041,334 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
G |
A |
14: 56,751,563 (GRCm39) |
G1467E |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,386,841 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,756,896 (GRCm39) |
N1069K |
probably benign |
Het |
| Scap |
T |
C |
9: 110,201,290 (GRCm39) |
I93T |
possibly damaging |
Het |
| Sez6 |
T |
C |
11: 77,865,170 (GRCm39) |
|
probably benign |
Het |
| Slc22a30 |
A |
T |
19: 8,347,561 (GRCm39) |
S280T |
probably benign |
Het |
| Slc26a5 |
A |
C |
5: 22,016,342 (GRCm39) |
|
probably null |
Het |
| St18 |
T |
C |
1: 6,919,172 (GRCm39) |
V901A |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,010,650 (GRCm39) |
L2519P |
probably damaging |
Het |
| Syne4 |
G |
A |
7: 30,018,344 (GRCm39) |
G362E |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 141,759,236 (GRCm39) |
T171A |
probably benign |
Het |
| Tns4 |
A |
T |
11: 98,966,024 (GRCm39) |
I453N |
probably damaging |
Het |
| Trank1 |
A |
T |
9: 111,221,978 (GRCm39) |
H2905L |
probably benign |
Het |
| Trim13 |
C |
T |
14: 61,842,166 (GRCm39) |
T61I |
possibly damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,580 (GRCm39) |
Q290R |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,559,544 (GRCm39) |
R29619L |
probably damaging |
Het |
| Ugt2b38 |
T |
A |
5: 87,568,417 (GRCm39) |
M293L |
probably benign |
Het |
| Vmn1r22 |
T |
A |
6: 57,877,513 (GRCm39) |
N155Y |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,508,269 (GRCm39) |
Y285C |
probably benign |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,588 (GRCm39) |
|
probably benign |
Het |
| Yipf2 |
T |
A |
9: 21,503,262 (GRCm39) |
E68D |
possibly damaging |
Het |
| Zfand5 |
C |
A |
19: 21,257,122 (GRCm39) |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAGCAAATGGAGCATAACATTCCT -3'
(R):5'- GCAAGCTACGTCATCTGTGCCT -3'
Sequencing Primer
(F):5'- GGAGCATAACATTCCTATCATAGC -3'
(R):5'- AGTCCCTGATATTTGGAGGACC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation