Incidental Mutation 'R1959:Vwa8'
| ID |
218209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa8
|
| Ensembl Gene |
ENSMUSG00000058997 |
| Gene Name |
von Willebrand factor A domain containing 8 |
| Synonyms |
1300010F03Rik, 4932416F07Rik |
| MMRRC Submission |
039973-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1959 (G1)
|
| Quality Score |
177 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
79086492-79439750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79219800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 516
(H516R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040990]
[ENSMUST00000227255]
|
| AlphaFold |
Q8CC88 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040990
AA Change: H516R
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048925
Gene: ENSMUSG00000058997
AA Change: H516R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
Pfam:AAA_5
|
104 |
260 |
6.3e-44 |
PFAM |
|
AAA
|
438 |
613 |
4.69e-2 |
SMART |
|
AAA
|
772 |
904 |
1.26e-1 |
SMART |
|
low complexity region
|
1213 |
1221 |
N/A |
INTRINSIC |
|
low complexity region
|
1565 |
1586 |
N/A |
INTRINSIC |
|
VWA
|
1712 |
1901 |
2.71e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227255
AA Change: H516R
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 130 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
C |
16: 14,214,257 (GRCm39) |
Y191H |
probably damaging |
Het |
| Aco1 |
T |
C |
4: 40,167,193 (GRCm39) |
|
probably null |
Het |
| Adap1 |
A |
G |
5: 139,259,096 (GRCm39) |
Y364H |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,073,738 (GRCm39) |
F209S |
probably damaging |
Het |
| Adgb |
A |
T |
10: 10,270,993 (GRCm39) |
D883E |
probably benign |
Het |
| Anapc1 |
C |
A |
2: 128,475,335 (GRCm39) |
R1381S |
probably benign |
Het |
| Aoah |
A |
G |
13: 20,978,564 (GRCm39) |
M1V |
probably null |
Het |
| Arap1 |
C |
A |
7: 101,022,222 (GRCm39) |
A8E |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,136,255 (GRCm39) |
F319S |
possibly damaging |
Het |
| Btrc |
T |
G |
19: 45,515,782 (GRCm39) |
I480S |
probably damaging |
Het |
| Cabin1 |
A |
T |
10: 75,570,924 (GRCm39) |
V784E |
possibly damaging |
Het |
| Card9 |
T |
A |
2: 26,244,885 (GRCm39) |
|
probably null |
Het |
| Cdk18 |
A |
G |
1: 132,045,559 (GRCm39) |
I238T |
possibly damaging |
Het |
| Clec12a |
A |
C |
6: 129,327,444 (GRCm39) |
T21P |
possibly damaging |
Het |
| Commd3 |
A |
T |
2: 18,678,774 (GRCm39) |
I70F |
probably benign |
Het |
| Cspg5 |
G |
A |
9: 110,080,094 (GRCm39) |
V340M |
probably damaging |
Het |
| Cyb5r4 |
G |
A |
9: 86,937,902 (GRCm39) |
S307N |
possibly damaging |
Het |
| Cyp26c1 |
T |
A |
19: 37,675,825 (GRCm39) |
F230I |
probably damaging |
Het |
| Ddx11 |
A |
G |
17: 66,437,723 (GRCm39) |
M150V |
probably benign |
Het |
| Dennd4b |
A |
G |
3: 90,176,080 (GRCm39) |
Y190C |
probably damaging |
Het |
| Det1 |
A |
G |
7: 78,493,191 (GRCm39) |
V271A |
probably benign |
Het |
| Dgkd |
C |
A |
1: 87,857,549 (GRCm39) |
P754T |
possibly damaging |
Het |
| Dhx36 |
T |
C |
3: 62,386,806 (GRCm39) |
S649G |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,653,843 (GRCm39) |
I62T |
possibly damaging |
Het |
| Dmgdh |
A |
G |
13: 93,857,067 (GRCm39) |
M724V |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,724,142 (GRCm39) |
S108P |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,760,797 (GRCm39) |
K495M |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,036,202 (GRCm39) |
Y225H |
probably damaging |
Het |
| Emx1 |
G |
A |
6: 85,180,916 (GRCm39) |
R211K |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,100,852 (GRCm39) |
|
probably null |
Het |
| Fbxo27 |
G |
A |
7: 28,397,797 (GRCm39) |
C277Y |
possibly damaging |
Het |
| Fcrl1 |
T |
C |
3: 87,283,827 (GRCm39) |
I9T |
possibly damaging |
Het |
| Fjx1 |
T |
C |
2: 102,281,152 (GRCm39) |
E261G |
probably benign |
Het |
| Flacc1 |
A |
T |
1: 58,698,437 (GRCm39) |
V327D |
possibly damaging |
Het |
| Flnb |
C |
T |
14: 7,884,735 (GRCm38) |
Q445* |
probably null |
Het |
| Flrt2 |
G |
A |
12: 95,747,074 (GRCm39) |
V471I |
probably benign |
Het |
| Frmd4a |
G |
A |
2: 4,539,997 (GRCm39) |
V210M |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,894 (GRCm39) |
K5876E |
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,656,443 (GRCm39) |
L209P |
probably damaging |
Het |
| Gata5 |
A |
T |
2: 179,968,729 (GRCm39) |
S382T |
possibly damaging |
Het |
| Glt6d1 |
C |
A |
2: 25,684,425 (GRCm39) |
V194L |
probably damaging |
Het |
| Gm10803 |
T |
G |
2: 93,394,288 (GRCm39) |
V20G |
unknown |
Het |
| Gm44511 |
T |
G |
6: 128,797,234 (GRCm39) |
T52P |
probably damaging |
Het |
| Gpat4 |
A |
T |
8: 23,672,952 (GRCm39) |
L88Q |
possibly damaging |
Het |
| Gpr15 |
T |
A |
16: 58,538,370 (GRCm39) |
I240L |
probably benign |
Het |
| Hivep2 |
A |
T |
10: 14,008,453 (GRCm39) |
I1684F |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,525,427 (GRCm39) |
T3366A |
probably benign |
Het |
| Hnmt |
A |
G |
2: 23,893,894 (GRCm39) |
V200A |
possibly damaging |
Het |
| Hps6 |
A |
T |
19: 45,992,774 (GRCm39) |
H237L |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,292,206 (GRCm39) |
P4033S |
probably damaging |
Het |
| Ift70b |
C |
T |
2: 75,767,443 (GRCm39) |
E437K |
probably benign |
Het |
| Irf9 |
T |
A |
14: 55,845,174 (GRCm39) |
S297T |
possibly damaging |
Het |
| Kdm3b |
T |
C |
18: 34,945,448 (GRCm39) |
V753A |
possibly damaging |
Het |
| Kif21a |
G |
A |
15: 90,855,051 (GRCm39) |
A703V |
probably damaging |
Het |
| Kif27 |
T |
G |
13: 58,440,937 (GRCm39) |
R1159S |
probably benign |
Het |
| Krtap4-16 |
A |
G |
11: 99,742,373 (GRCm39) |
V9A |
unknown |
Het |
| Lama2 |
G |
T |
10: 27,298,614 (GRCm39) |
P161T |
probably damaging |
Het |
| Ltbp4 |
G |
A |
7: 27,028,443 (GRCm39) |
P273L |
unknown |
Het |
| Lvrn |
T |
A |
18: 47,027,784 (GRCm39) |
S866R |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,189,805 (GRCm39) |
Y1035H |
probably damaging |
Het |
| Mertk |
T |
A |
2: 128,601,010 (GRCm39) |
N331K |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,215,437 (GRCm39) |
F211Y |
probably benign |
Het |
| Mpeg1 |
G |
A |
19: 12,440,275 (GRCm39) |
V578M |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,453,764 (GRCm39) |
S183T |
possibly damaging |
Het |
| Mrto4 |
A |
T |
4: 139,076,949 (GRCm39) |
I56N |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,416,374 (GRCm39) |
C3107R |
possibly damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,230,476 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,330,737 (GRCm39) |
E553G |
probably damaging |
Het |
| Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
| Nr2f1 |
T |
C |
13: 78,337,935 (GRCm39) |
T237A |
probably damaging |
Het |
| Nup205 |
C |
A |
6: 35,210,301 (GRCm39) |
Q1621K |
probably benign |
Het |
| Nup50l |
A |
G |
6: 96,142,250 (GRCm39) |
S265P |
possibly damaging |
Het |
| Nxpe2 |
T |
A |
9: 48,231,026 (GRCm39) |
S448C |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,296,638 (GRCm39) |
C498S |
possibly damaging |
Het |
| Oplah |
G |
A |
15: 76,181,664 (GRCm39) |
T1119I |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,639 (GRCm39) |
F71L |
probably benign |
Het |
| Or2ag15 |
T |
C |
7: 106,340,601 (GRCm39) |
E180G |
probably damaging |
Het |
| Or2d2 |
A |
T |
7: 106,727,717 (GRCm39) |
D294E |
possibly damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,963 (GRCm39) |
D70G |
probably damaging |
Het |
| Or5d46 |
T |
C |
2: 88,170,545 (GRCm39) |
L212P |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,471 (GRCm39) |
K159M |
probably damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,634 (GRCm39) |
S148P |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,369 (GRCm39) |
Y788N |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,410,782 (GRCm39) |
D1870G |
unknown |
Het |
| Pde6g |
A |
G |
11: 120,338,962 (GRCm39) |
L76P |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,114,073 (GRCm39) |
Y593N |
probably damaging |
Het |
| Pfas |
C |
T |
11: 68,885,110 (GRCm39) |
G16R |
probably damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,769,970 (GRCm39) |
|
probably null |
Het |
| Pla2g3 |
C |
T |
11: 3,440,983 (GRCm39) |
T316I |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,530,788 (GRCm39) |
I489F |
probably damaging |
Het |
| Rere |
T |
G |
4: 150,553,247 (GRCm39) |
H146Q |
probably benign |
Het |
| Rundc1 |
A |
T |
11: 101,322,322 (GRCm39) |
Q272L |
probably damaging |
Het |
| Scml4 |
T |
C |
10: 42,832,017 (GRCm39) |
L305P |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,320,144 (GRCm39) |
H1431Q |
probably benign |
Het |
| Serpina1a |
G |
A |
12: 103,820,059 (GRCm39) |
Q373* |
probably null |
Het |
| Shank1 |
A |
T |
7: 43,974,801 (GRCm39) |
N377I |
unknown |
Het |
| Shc2 |
T |
C |
10: 79,462,625 (GRCm39) |
|
probably null |
Het |
| Slc22a29 |
C |
A |
19: 8,146,557 (GRCm39) |
R415M |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,368,002 (GRCm39) |
I589F |
probably damaging |
Het |
| Smim8 |
C |
T |
4: 34,771,316 (GRCm39) |
R26Q |
probably damaging |
Het |
| Smox |
C |
A |
2: 131,362,384 (GRCm39) |
A221D |
probably damaging |
Het |
| Sox5 |
A |
G |
6: 143,819,831 (GRCm39) |
S62P |
possibly damaging |
Het |
| Spg21 |
A |
C |
9: 65,391,774 (GRCm39) |
K240N |
probably damaging |
Het |
| Sv2c |
C |
T |
13: 96,113,153 (GRCm39) |
V599M |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,801,121 (GRCm39) |
H1112Q |
probably damaging |
Het |
| Tbata |
T |
C |
10: 61,011,623 (GRCm39) |
I58T |
possibly damaging |
Het |
| Tbc1d2 |
T |
G |
4: 46,606,419 (GRCm39) |
Y842S |
probably benign |
Het |
| Tctn1 |
A |
T |
5: 122,379,903 (GRCm39) |
|
probably null |
Het |
| Tenm1 |
T |
C |
X: 41,916,078 (GRCm39) |
D402G |
probably benign |
Het |
| Tfcp2l1 |
T |
C |
1: 118,597,119 (GRCm39) |
V400A |
probably benign |
Het |
| Tm9sf2 |
T |
A |
14: 122,363,576 (GRCm39) |
L99I |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,886,803 (GRCm39) |
|
probably null |
Het |
| Traf7 |
C |
A |
17: 24,732,255 (GRCm39) |
G191C |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,879,978 (GRCm39) |
L661Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,580,967 (GRCm39) |
I23309V |
probably benign |
Het |
| Usp50 |
T |
C |
2: 126,619,881 (GRCm39) |
K199E |
possibly damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,683 (GRCm39) |
F10S |
probably damaging |
Het |
| Vmn2r89 |
C |
A |
14: 51,694,897 (GRCm39) |
T459K |
probably benign |
Het |
| Vps13a |
T |
G |
19: 16,655,302 (GRCm39) |
S1909R |
possibly damaging |
Het |
| Vwa5b2 |
T |
C |
16: 20,420,941 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
T |
C |
6: 119,946,208 (GRCm39) |
I648M |
probably damaging |
Het |
| Zfat |
G |
C |
15: 68,018,392 (GRCm39) |
P974R |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,259,158 (GRCm39) |
I1601K |
probably benign |
Het |
| Zfp239 |
A |
G |
6: 117,848,778 (GRCm39) |
K172R |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,736,722 (GRCm39) |
G971D |
probably damaging |
Het |
| Zfp532 |
A |
T |
18: 65,757,563 (GRCm39) |
I499F |
probably damaging |
Het |
| Zfp647 |
T |
C |
15: 76,795,314 (GRCm39) |
T449A |
possibly damaging |
Het |
| Zfp938 |
C |
T |
10: 82,061,465 (GRCm39) |
G385D |
probably damaging |
Het |
| Zfp959 |
T |
G |
17: 56,204,404 (GRCm39) |
V147G |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,892,270 (GRCm39) |
C649S |
probably damaging |
Het |
|
| Other mutations in Vwa8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Vwa8
|
APN |
14 |
79,275,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01087:Vwa8
|
APN |
14 |
79,172,669 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01137:Vwa8
|
APN |
14 |
79,341,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01359:Vwa8
|
APN |
14 |
79,302,353 (GRCm39) |
nonsense |
probably null |
|
|
IGL01449:Vwa8
|
APN |
14 |
79,420,428 (GRCm39) |
nonsense |
probably null |
|
|
IGL01604:Vwa8
|
APN |
14 |
79,418,244 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01636:Vwa8
|
APN |
14 |
79,435,794 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01815:Vwa8
|
APN |
14 |
79,435,717 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02024:Vwa8
|
APN |
14 |
79,331,724 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02033:Vwa8
|
APN |
14 |
79,221,649 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02154:Vwa8
|
APN |
14 |
79,086,733 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02286:Vwa8
|
APN |
14 |
79,184,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02393:Vwa8
|
APN |
14 |
79,420,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02430:Vwa8
|
APN |
14 |
79,172,085 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02476:Vwa8
|
APN |
14 |
79,162,781 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02612:Vwa8
|
APN |
14 |
79,420,552 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02678:Vwa8
|
APN |
14 |
79,221,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02797:Vwa8
|
APN |
14 |
79,162,702 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02806:Vwa8
|
APN |
14 |
79,394,528 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02811:Vwa8
|
APN |
14 |
79,231,899 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02892:Vwa8
|
APN |
14 |
79,341,140 (GRCm39) |
splice site |
probably benign |
|
|
IGL03024:Vwa8
|
APN |
14 |
79,232,538 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03075:Vwa8
|
APN |
14 |
79,171,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03090:Vwa8
|
APN |
14 |
79,172,041 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03124:Vwa8
|
APN |
14 |
79,296,255 (GRCm39) |
splice site |
probably benign |
|
|
IGL03181:Vwa8
|
APN |
14 |
79,246,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03296:Vwa8
|
APN |
14 |
79,420,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03376:Vwa8
|
APN |
14 |
79,420,574 (GRCm39) |
splice site |
probably null |
|
|
R6812_Vwa8_870
|
UTSW |
14 |
79,434,859 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03052:Vwa8
|
UTSW |
14 |
79,302,361 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4468001:Vwa8
|
UTSW |
14 |
79,420,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Vwa8
|
UTSW |
14 |
79,331,179 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0063:Vwa8
|
UTSW |
14 |
79,401,656 (GRCm39) |
splice site |
probably benign |
|
|
R0063:Vwa8
|
UTSW |
14 |
79,401,656 (GRCm39) |
splice site |
probably benign |
|
|
R0081:Vwa8
|
UTSW |
14 |
79,320,222 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0305:Vwa8
|
UTSW |
14 |
79,246,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Vwa8
|
UTSW |
14 |
79,300,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Vwa8
|
UTSW |
14 |
79,184,629 (GRCm39) |
missense |
probably benign |
|
|
R0602:Vwa8
|
UTSW |
14 |
79,258,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0615:Vwa8
|
UTSW |
14 |
79,145,590 (GRCm39) |
missense |
probably benign |
|
|
R0791:Vwa8
|
UTSW |
14 |
79,232,016 (GRCm39) |
splice site |
probably benign |
|
|
R1028:Vwa8
|
UTSW |
14 |
79,145,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1037:Vwa8
|
UTSW |
14 |
79,324,094 (GRCm39) |
nonsense |
probably null |
|
|
R1404:Vwa8
|
UTSW |
14 |
79,263,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Vwa8
|
UTSW |
14 |
79,263,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1412:Vwa8
|
UTSW |
14 |
79,145,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1421:Vwa8
|
UTSW |
14 |
79,145,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1467:Vwa8
|
UTSW |
14 |
79,341,134 (GRCm39) |
nonsense |
probably null |
|
|
R1467:Vwa8
|
UTSW |
14 |
79,341,134 (GRCm39) |
nonsense |
probably null |
|
|
R1539:Vwa8
|
UTSW |
14 |
79,300,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1556:Vwa8
|
UTSW |
14 |
79,324,121 (GRCm39) |
missense |
probably benign |
|
|
R1589:Vwa8
|
UTSW |
14 |
79,145,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:Vwa8
|
UTSW |
14 |
79,145,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Vwa8
|
UTSW |
14 |
79,145,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Vwa8
|
UTSW |
14 |
79,420,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1673:Vwa8
|
UTSW |
14 |
79,145,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1688:Vwa8
|
UTSW |
14 |
79,438,543 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1764:Vwa8
|
UTSW |
14 |
79,145,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1830:Vwa8
|
UTSW |
14 |
79,318,576 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1926:Vwa8
|
UTSW |
14 |
79,258,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1971:Vwa8
|
UTSW |
14 |
79,162,694 (GRCm39) |
splice site |
probably benign |
|
|
R2078:Vwa8
|
UTSW |
14 |
79,145,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Vwa8
|
UTSW |
14 |
79,145,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Vwa8
|
UTSW |
14 |
79,329,843 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2281:Vwa8
|
UTSW |
14 |
79,302,436 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2313:Vwa8
|
UTSW |
14 |
79,149,658 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2847:Vwa8
|
UTSW |
14 |
79,184,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2848:Vwa8
|
UTSW |
14 |
79,184,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2894:Vwa8
|
UTSW |
14 |
79,275,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2991:Vwa8
|
UTSW |
14 |
79,232,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3077:Vwa8
|
UTSW |
14 |
79,335,782 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3405:Vwa8
|
UTSW |
14 |
79,401,660 (GRCm39) |
splice site |
probably benign |
|
|
R3406:Vwa8
|
UTSW |
14 |
79,401,660 (GRCm39) |
splice site |
probably benign |
|
|
R3708:Vwa8
|
UTSW |
14 |
79,300,136 (GRCm39) |
splice site |
probably benign |
|
|
R3779:Vwa8
|
UTSW |
14 |
79,339,762 (GRCm39) |
splice site |
probably benign |
|
|
R3799:Vwa8
|
UTSW |
14 |
79,302,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4230:Vwa8
|
UTSW |
14 |
79,320,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4425:Vwa8
|
UTSW |
14 |
79,320,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4478:Vwa8
|
UTSW |
14 |
79,106,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4627:Vwa8
|
UTSW |
14 |
79,341,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4835:Vwa8
|
UTSW |
14 |
79,172,053 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4868:Vwa8
|
UTSW |
14 |
79,420,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Vwa8
|
UTSW |
14 |
79,435,723 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5137:Vwa8
|
UTSW |
14 |
79,302,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5156:Vwa8
|
UTSW |
14 |
79,221,666 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5658:Vwa8
|
UTSW |
14 |
79,219,838 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5841:Vwa8
|
UTSW |
14 |
79,231,958 (GRCm39) |
missense |
probably benign |
|
|
R6057:Vwa8
|
UTSW |
14 |
79,320,313 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6244:Vwa8
|
UTSW |
14 |
79,324,102 (GRCm39) |
missense |
probably benign |
|
|
R6264:Vwa8
|
UTSW |
14 |
79,324,252 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6290:Vwa8
|
UTSW |
14 |
79,331,772 (GRCm39) |
splice site |
probably null |
|
|
R6332:Vwa8
|
UTSW |
14 |
79,434,904 (GRCm39) |
missense |
probably benign |
|
|
R6395:Vwa8
|
UTSW |
14 |
79,331,184 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6472:Vwa8
|
UTSW |
14 |
79,246,610 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6497:Vwa8
|
UTSW |
14 |
79,333,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6527:Vwa8
|
UTSW |
14 |
79,184,653 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6552:Vwa8
|
UTSW |
14 |
79,435,662 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6812:Vwa8
|
UTSW |
14 |
79,434,859 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6994:Vwa8
|
UTSW |
14 |
79,145,596 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7040:Vwa8
|
UTSW |
14 |
79,149,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7357:Vwa8
|
UTSW |
14 |
79,275,641 (GRCm39) |
missense |
probably null |
1.00 |
|
R7363:Vwa8
|
UTSW |
14 |
79,256,147 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7381:Vwa8
|
UTSW |
14 |
79,333,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7406:Vwa8
|
UTSW |
14 |
79,219,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7408:Vwa8
|
UTSW |
14 |
79,219,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7409:Vwa8
|
UTSW |
14 |
79,219,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7410:Vwa8
|
UTSW |
14 |
79,219,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7483:Vwa8
|
UTSW |
14 |
79,219,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7484:Vwa8
|
UTSW |
14 |
79,219,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7491:Vwa8
|
UTSW |
14 |
79,320,254 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7500:Vwa8
|
UTSW |
14 |
79,162,686 (GRCm39) |
splice site |
probably null |
|
|
R7514:Vwa8
|
UTSW |
14 |
79,219,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7582:Vwa8
|
UTSW |
14 |
79,219,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7584:Vwa8
|
UTSW |
14 |
79,219,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7585:Vwa8
|
UTSW |
14 |
79,219,674 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7647:Vwa8
|
UTSW |
14 |
79,172,669 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7685:Vwa8
|
UTSW |
14 |
79,335,740 (GRCm39) |
missense |
probably benign |
|
|
R7703:Vwa8
|
UTSW |
14 |
79,263,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7730:Vwa8
|
UTSW |
14 |
79,232,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7775:Vwa8
|
UTSW |
14 |
79,275,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7778:Vwa8
|
UTSW |
14 |
79,275,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7824:Vwa8
|
UTSW |
14 |
79,275,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7885:Vwa8
|
UTSW |
14 |
79,258,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7902:Vwa8
|
UTSW |
14 |
79,329,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8262:Vwa8
|
UTSW |
14 |
79,171,272 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8458:Vwa8
|
UTSW |
14 |
79,302,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8495:Vwa8
|
UTSW |
14 |
79,174,617 (GRCm39) |
nonsense |
probably null |
|
|
R8557:Vwa8
|
UTSW |
14 |
79,246,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8841:Vwa8
|
UTSW |
14 |
79,184,702 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8906:Vwa8
|
UTSW |
14 |
79,329,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8947:Vwa8
|
UTSW |
14 |
79,438,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Vwa8
|
UTSW |
14 |
79,296,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Vwa8
|
UTSW |
14 |
79,324,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9179:Vwa8
|
UTSW |
14 |
79,335,801 (GRCm39) |
missense |
probably benign |
|
|
R9433:Vwa8
|
UTSW |
14 |
79,335,871 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9455:Vwa8
|
UTSW |
14 |
79,300,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Vwa8
|
UTSW |
14 |
79,258,122 (GRCm39) |
missense |
probably benign |
|
|
R9530:Vwa8
|
UTSW |
14 |
79,172,639 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9584:Vwa8
|
UTSW |
14 |
79,394,549 (GRCm39) |
missense |
probably benign |
|
|
R9763:Vwa8
|
UTSW |
14 |
79,186,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Vwa8
|
UTSW |
14 |
79,219,686 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1177:Vwa8
|
UTSW |
14 |
79,296,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAAAGAAGCATTGCATAGGTCTTC -3'
(R):5'- ACGGCTGGCACACTTTCATC -3'
Sequencing Primer
(F):5'- GCATAGGTCTTCAACATTAACTCTGC -3'
(R):5'- GCAAATTCTGCCACAGAGGTG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation