Incidental Mutation 'R5032:Vwa5b2'
| ID |
391782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa5b2
|
| Ensembl Gene |
ENSMUSG00000046613 |
| Gene Name |
von Willebrand factor A domain containing 5B2 |
| Synonyms |
EG328644 |
| MMRRC Submission |
042623-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R5032 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
20408221-20424127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20419459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 601
(T601A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045918]
[ENSMUST00000096197]
[ENSMUST00000100074]
[ENSMUST00000123774]
[ENSMUST00000159780]
[ENSMUST00000232458]
[ENSMUST00000231362]
[ENSMUST00000231904]
[ENSMUST00000231531]
[ENSMUST00000232319]
[ENSMUST00000149236]
[ENSMUST00000231749]
[ENSMUST00000147867]
[ENSMUST00000232451]
[ENSMUST00000231386]
[ENSMUST00000231387]
[ENSMUST00000231471]
|
| AlphaFold |
Q3UR50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045918
|
| SMART Domains |
Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALG3
|
47 |
406 |
2.5e-145 |
PFAM |
|
low complexity region
|
407 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000046188
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096197
AA Change: T601A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: T601A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
2 |
79 |
7.3e-31 |
PFAM |
|
VWA
|
352 |
521 |
3.16e-1 |
SMART |
|
low complexity region
|
684 |
706 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1046 |
N/A |
INTRINSIC |
|
low complexity region
|
1127 |
1145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100074
|
| SMART Domains |
Protein: ENSMUSP00000097652
Gene: ENSMUSG00000046613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
2 |
79 |
1.9e-31 |
PFAM |
|
VWA
|
352 |
521 |
3.16e-1 |
SMART |
|
low complexity region
|
572 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
602 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123774
|
| SMART Domains |
Protein: ENSMUSP00000123378
Gene: ENSMUSG00000033809
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
42 |
61 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127454
|
| SMART Domains |
Protein: ENSMUSP00000120559
Gene: ENSMUSG00000033809
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
Pfam:ALG3
|
51 |
118 |
2.1e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159780
AA Change: T601A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: T601A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
2 |
79 |
5.5e-31 |
PFAM |
|
VWA
|
352 |
521 |
3.16e-1 |
SMART |
|
low complexity region
|
684 |
706 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1046 |
N/A |
INTRINSIC |
|
low complexity region
|
1127 |
1145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232458
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231608
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231904
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232319
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149236
|
| SMART Domains |
Protein: ENSMUSP00000124117
Gene: ENSMUSG00000046613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
2 |
79 |
7.9e-32 |
PFAM |
|
Blast:VWA
|
352 |
408 |
2e-26 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232451
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231386
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231471
|
| Meta Mutation Damage Score |
0.2536 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.0%
|
| Validation Efficiency |
97% (77/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Actl9 |
A |
G |
17: 33,653,062 (GRCm39) |
N374S |
probably benign |
Het |
| Adam34l |
T |
C |
8: 44,079,508 (GRCm39) |
N239D |
probably damaging |
Het |
| Ahcyl2 |
T |
A |
6: 29,768,555 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,720,464 (GRCm39) |
M1501T |
probably benign |
Het |
| Asb17 |
A |
T |
3: 153,550,175 (GRCm39) |
D69V |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,082,202 (GRCm39) |
Y877C |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,894,271 (GRCm39) |
Q64R |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,505,730 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
G |
T |
5: 16,564,068 (GRCm39) |
R893L |
probably damaging |
Het |
| Ccdc138 |
C |
T |
10: 58,409,458 (GRCm39) |
R596C |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,288,628 (GRCm39) |
Y353C |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,400,330 (GRCm39) |
Y1015H |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,312,543 (GRCm39) |
Y339H |
probably damaging |
Het |
| Cspp1 |
T |
C |
1: 10,136,744 (GRCm39) |
W190R |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,273,993 (GRCm39) |
I570N |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,167,798 (GRCm39) |
R1027H |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,593,326 (GRCm39) |
Q1198* |
probably null |
Het |
| Ecel1 |
G |
A |
1: 87,081,975 (GRCm39) |
S246L |
probably damaging |
Het |
| Fam228b |
T |
G |
12: 4,813,042 (GRCm39) |
R109S |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,799,245 (GRCm39) |
|
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,939,159 (GRCm39) |
R814G |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,897,746 (GRCm39) |
K233E |
probably benign |
Het |
| Gramd1c |
A |
G |
16: 43,811,026 (GRCm39) |
Y438H |
probably damaging |
Het |
| Gsdmc |
A |
T |
15: 63,673,882 (GRCm39) |
D134E |
possibly damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,760,142 (GRCm39) |
I226V |
probably benign |
Het |
| Hc |
T |
C |
2: 34,903,544 (GRCm39) |
I1037V |
probably benign |
Het |
| Hspa4 |
T |
G |
11: 53,179,950 (GRCm39) |
R69S |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,829,354 (GRCm39) |
S508P |
probably damaging |
Het |
| Krt7 |
G |
A |
15: 101,310,428 (GRCm39) |
R25H |
probably benign |
Het |
| Lhfpl6 |
T |
A |
3: 52,950,854 (GRCm39) |
S43T |
possibly damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,887,217 (GRCm39) |
K394N |
possibly damaging |
Het |
| Lypd4 |
A |
T |
7: 24,566,240 (GRCm39) |
L28Q |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,161,481 (GRCm39) |
E798G |
probably benign |
Het |
| Mta1 |
T |
A |
12: 113,097,145 (GRCm39) |
|
probably null |
Het |
| Mtg2 |
A |
T |
2: 179,725,183 (GRCm39) |
Q132L |
possibly damaging |
Het |
| Myh1 |
G |
T |
11: 67,096,874 (GRCm39) |
E382* |
probably null |
Het |
| Myo3a |
T |
C |
2: 22,287,413 (GRCm39) |
L175P |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,904,786 (GRCm39) |
F144L |
possibly damaging |
Het |
| Nfrkb |
T |
A |
9: 31,300,351 (GRCm39) |
|
probably null |
Het |
| Nmt2 |
C |
T |
2: 3,285,429 (GRCm39) |
P5L |
probably benign |
Het |
| Nsmf |
T |
C |
2: 24,945,073 (GRCm39) |
|
probably null |
Het |
| Oprl1 |
C |
T |
2: 181,360,795 (GRCm39) |
R257C |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
| Or5a1 |
T |
A |
19: 12,097,420 (GRCm39) |
I219F |
probably benign |
Het |
| Pcdhgc3 |
T |
A |
18: 37,940,638 (GRCm39) |
N346K |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,190,911 (GRCm39) |
P2791S |
probably benign |
Het |
| Pdia3 |
A |
G |
2: 121,244,620 (GRCm39) |
N11S |
probably benign |
Het |
| Pik3c2g |
A |
T |
6: 139,841,928 (GRCm39) |
T778S |
probably benign |
Het |
| Pik3ip1 |
T |
A |
11: 3,283,520 (GRCm39) |
I75N |
probably damaging |
Het |
| Pla2g4d |
A |
T |
2: 120,112,176 (GRCm39) |
Y118* |
probably null |
Het |
| Ppargc1b |
A |
G |
18: 61,440,336 (GRCm39) |
S845P |
probably damaging |
Het |
| Prdm2 |
A |
T |
4: 142,905,937 (GRCm39) |
L50* |
probably null |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,053,140 (GRCm39) |
V926I |
probably benign |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,799 (GRCm39) |
N139K |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,960,300 (GRCm39) |
M189K |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,570 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
C |
A |
3: 88,152,441 (GRCm39) |
G368C |
probably damaging |
Het |
| Rnf214 |
A |
G |
9: 45,811,042 (GRCm39) |
|
probably null |
Het |
| Sf3a3 |
T |
C |
4: 124,618,959 (GRCm39) |
S307P |
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,814,442 (GRCm39) |
Y494F |
probably damaging |
Het |
| Son |
T |
C |
16: 91,454,552 (GRCm39) |
S1100P |
probably damaging |
Het |
| Spag16 |
T |
G |
1: 69,892,511 (GRCm39) |
N97K |
probably benign |
Het |
| Tmem192 |
T |
C |
8: 65,412,163 (GRCm39) |
V114A |
possibly damaging |
Het |
| Urb1 |
G |
T |
16: 90,553,059 (GRCm39) |
P1901T |
probably benign |
Het |
| Wdtc1 |
G |
T |
4: 133,036,162 (GRCm39) |
T126K |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,356,014 (GRCm39) |
Y3592H |
possibly damaging |
Het |
| Xylt2 |
A |
T |
11: 94,560,842 (GRCm39) |
V232E |
probably damaging |
Het |
|
| Other mutations in Vwa5b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01307:Vwa5b2
|
APN |
16 |
20,423,020 (GRCm39) |
missense |
probably benign |
|
|
IGL01543:Vwa5b2
|
APN |
16 |
20,414,466 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01719:Vwa5b2
|
APN |
16 |
20,416,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02006:Vwa5b2
|
APN |
16 |
20,415,843 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02150:Vwa5b2
|
APN |
16 |
20,423,576 (GRCm39) |
missense |
probably benign |
|
|
IGL02301:Vwa5b2
|
APN |
16 |
20,423,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02373:Vwa5b2
|
APN |
16 |
20,423,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02413:Vwa5b2
|
APN |
16 |
20,416,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02664:Vwa5b2
|
APN |
16 |
20,414,063 (GRCm39) |
unclassified |
probably benign |
|
|
R1171:Vwa5b2
|
UTSW |
16 |
20,423,734 (GRCm39) |
missense |
probably benign |
|
|
R1405:Vwa5b2
|
UTSW |
16 |
20,423,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1405:Vwa5b2
|
UTSW |
16 |
20,423,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1464:Vwa5b2
|
UTSW |
16 |
20,415,019 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1464:Vwa5b2
|
UTSW |
16 |
20,415,019 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1730:Vwa5b2
|
UTSW |
16 |
20,419,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1902:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1903:Vwa5b2
|
UTSW |
16 |
20,423,582 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1959:Vwa5b2
|
UTSW |
16 |
20,420,941 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1961:Vwa5b2
|
UTSW |
16 |
20,420,941 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3522:Vwa5b2
|
UTSW |
16 |
20,420,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3687:Vwa5b2
|
UTSW |
16 |
20,410,308 (GRCm39) |
unclassified |
probably benign |
|
|
R3746:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
|
R3747:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
|
R3749:Vwa5b2
|
UTSW |
16 |
20,417,076 (GRCm39) |
intron |
probably benign |
|
|
R3952:Vwa5b2
|
UTSW |
16 |
20,417,111 (GRCm39) |
makesense |
probably null |
|
|
R4641:Vwa5b2
|
UTSW |
16 |
20,423,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Vwa5b2
|
UTSW |
16 |
20,415,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Vwa5b2
|
UTSW |
16 |
20,419,553 (GRCm39) |
splice site |
probably null |
|
|
R5286:Vwa5b2
|
UTSW |
16 |
20,415,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Vwa5b2
|
UTSW |
16 |
20,414,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5585:Vwa5b2
|
UTSW |
16 |
20,413,428 (GRCm39) |
nonsense |
probably null |
|
|
R5640:Vwa5b2
|
UTSW |
16 |
20,416,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6330:Vwa5b2
|
UTSW |
16 |
20,420,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Vwa5b2
|
UTSW |
16 |
20,413,429 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6992:Vwa5b2
|
UTSW |
16 |
20,416,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Vwa5b2
|
UTSW |
16 |
20,422,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7231:Vwa5b2
|
UTSW |
16 |
20,422,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7591:Vwa5b2
|
UTSW |
16 |
20,420,317 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7765:Vwa5b2
|
UTSW |
16 |
20,413,361 (GRCm39) |
missense |
probably benign |
|
|
R8269:Vwa5b2
|
UTSW |
16 |
20,423,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8311:Vwa5b2
|
UTSW |
16 |
20,409,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8707:Vwa5b2
|
UTSW |
16 |
20,412,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8716:Vwa5b2
|
UTSW |
16 |
20,415,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8815:Vwa5b2
|
UTSW |
16 |
20,419,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8965:Vwa5b2
|
UTSW |
16 |
20,415,076 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9245:Vwa5b2
|
UTSW |
16 |
20,416,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Vwa5b2
|
UTSW |
16 |
20,423,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9536:Vwa5b2
|
UTSW |
16 |
20,414,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9695:Vwa5b2
|
UTSW |
16 |
20,422,975 (GRCm39) |
missense |
probably benign |
|
|
R9727:Vwa5b2
|
UTSW |
16 |
20,423,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vwa5b2
|
UTSW |
16 |
20,410,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Vwa5b2
|
UTSW |
16 |
20,419,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGCTTTTCACTTCTGGACTATT -3'
(R):5'- GGTCTGTCAGAGCTTCCATACC -3'
Sequencing Primer
(F):5'- GCATACTCCTCCCTCAATAC -3'
(R):5'- AGAGCTTCCATACCTGCTGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation