Incidental Mutation 'R9646:Vwa5b1'
| ID |
726715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa5b1
|
| Ensembl Gene |
ENSMUSG00000028753 |
| Gene Name |
von Willebrand factor A domain containing 5B1 |
| Synonyms |
4931403E03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9646 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
138292671-138363195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 138319420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 412
(N412I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030533]
[ENSMUST00000105812]
|
| AlphaFold |
A9Z1V5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030533
AA Change: N412I
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: N412I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
2 |
79 |
2e-28 |
PFAM |
|
Pfam:VIT
|
15 |
138 |
1.5e-7 |
PFAM |
|
VWA
|
351 |
513 |
6.04e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105812
|
| SMART Domains |
Protein: ENSMUSP00000101438
Gene: ENSMUSG00000028753
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
16 |
93 |
1.9e-30 |
PFAM |
|
Pfam:VIT
|
29 |
103 |
2.1e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,544,926 (GRCm39) |
I723N |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,075,648 (GRCm39) |
R682Q |
unknown |
Het |
| Ankrd42 |
A |
T |
7: 92,273,257 (GRCm39) |
D123E |
possibly damaging |
Het |
| Anxa4 |
A |
T |
6: 86,730,814 (GRCm39) |
I121N |
probably damaging |
Het |
| Asic1 |
T |
C |
15: 99,593,414 (GRCm39) |
F257S |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Cckar |
T |
C |
5: 53,863,608 (GRCm39) |
T118A |
probably benign |
Het |
| Cfap61 |
T |
A |
2: 145,854,152 (GRCm39) |
I388N |
probably damaging |
Het |
| Chrnd |
A |
T |
1: 87,120,311 (GRCm39) |
I156F |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,257,187 (GRCm39) |
L326Q |
possibly damaging |
Het |
| Dcpp3 |
A |
T |
17: 24,138,156 (GRCm39) |
I105L |
possibly damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,151,832 (GRCm39) |
H494Q |
probably benign |
Het |
| Dph5 |
T |
A |
3: 115,708,692 (GRCm39) |
Y125N |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,170,280 (GRCm39) |
V111A |
probably damaging |
Het |
| Etl4 |
T |
A |
2: 20,802,724 (GRCm39) |
I1010K |
probably benign |
Het |
| Faf1 |
T |
A |
4: 109,652,016 (GRCm39) |
W236R |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,813 (GRCm39) |
D3155G |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,827,808 (GRCm39) |
H125R |
probably damaging |
Het |
| Firrm |
A |
G |
1: 163,822,195 (GRCm39) |
V32A |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,120,390 (GRCm39) |
I491T |
probably damaging |
Het |
| Gm10553 |
T |
A |
1: 85,077,901 (GRCm39) |
L6Q |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,431,157 (GRCm39) |
I168N |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,487,167 (GRCm39) |
Q78L |
probably damaging |
Het |
| Hmx1 |
C |
T |
5: 35,549,400 (GRCm39) |
T231M |
probably damaging |
Het |
| Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
| Hsd17b13 |
T |
C |
5: 104,124,973 (GRCm39) |
K70R |
probably null |
Het |
| Hykk |
C |
T |
9: 54,853,521 (GRCm39) |
T281I |
probably benign |
Het |
| Il1r2 |
A |
G |
1: 40,162,362 (GRCm39) |
D335G |
probably damaging |
Het |
| Insig2 |
A |
C |
1: 121,240,040 (GRCm39) |
L87V |
probably damaging |
Het |
| Insrr |
A |
T |
3: 87,721,805 (GRCm39) |
Y1193F |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,845 (GRCm39) |
Y1173C |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,104,573 (GRCm39) |
N190S |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,897,119 (GRCm39) |
F161L |
probably benign |
Het |
| Lilra5 |
T |
C |
7: 4,244,907 (GRCm39) |
L226P |
probably damaging |
Het |
| Muc2 |
C |
T |
7: 141,276,643 (GRCm39) |
A11V |
probably benign |
Het |
| Nrp2 |
T |
C |
1: 62,777,566 (GRCm39) |
F124L |
probably damaging |
Het |
| Or52e4 |
T |
C |
7: 104,706,374 (GRCm39) |
I307T |
probably benign |
Het |
| Or5m11b |
T |
A |
2: 85,806,446 (GRCm39) |
N286K |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,512 (GRCm39) |
D52V |
probably damaging |
Het |
| Or8c19-ps1 |
T |
A |
9: 38,220,114 (GRCm39) |
S8T |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,618,471 (GRCm39) |
N87I |
possibly damaging |
Het |
| Pdgfrb |
T |
A |
18: 61,211,721 (GRCm39) |
|
probably null |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pepd |
A |
T |
7: 34,620,882 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Pigo |
C |
A |
4: 43,017,967 (GRCm39) |
R1083L |
probably damaging |
Het |
| Pitpnm1 |
G |
A |
19: 4,153,269 (GRCm39) |
D142N |
probably damaging |
Het |
| Plod1 |
C |
T |
4: 148,016,112 (GRCm39) |
E93K |
probably benign |
Het |
| Pramel11 |
A |
T |
4: 143,623,634 (GRCm39) |
V180E |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,698,440 (GRCm39) |
I979T |
probably damaging |
Het |
| Scrib |
C |
T |
15: 75,932,492 (GRCm39) |
G743D |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,170,088 (GRCm39) |
S205P |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,867,632 (GRCm39) |
K850E |
probably damaging |
Het |
| Sfxn5 |
T |
A |
6: 85,266,195 (GRCm39) |
T101S |
probably damaging |
Het |
| Slc6a5 |
A |
T |
7: 49,567,496 (GRCm39) |
K317* |
probably null |
Het |
| Sox8 |
A |
T |
17: 25,786,871 (GRCm39) |
D277E |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,795,341 (GRCm39) |
A1600S |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,179,187 (GRCm39) |
V4429A |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,773,266 (GRCm39) |
F1137L |
possibly damaging |
Het |
| Trim43a |
A |
G |
9: 88,466,392 (GRCm39) |
R238G |
probably benign |
Het |
| Triobp |
T |
C |
15: 78,887,934 (GRCm39) |
L1943P |
probably damaging |
Het |
| Vmn1r125 |
T |
C |
7: 21,006,261 (GRCm39) |
V53A |
possibly damaging |
Het |
| Yipf7 |
T |
A |
5: 69,678,424 (GRCm39) |
T122S |
probably benign |
Het |
| Zfp1005 |
C |
T |
2: 150,110,104 (GRCm39) |
H265Y |
probably benign |
Het |
|
| Other mutations in Vwa5b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01952:Vwa5b1
|
APN |
4 |
138,308,528 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02133:Vwa5b1
|
APN |
4 |
138,313,868 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02379:Vwa5b1
|
APN |
4 |
138,340,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02671:Vwa5b1
|
APN |
4 |
138,296,437 (GRCm39) |
nonsense |
probably null |
|
|
IGL02864:Vwa5b1
|
APN |
4 |
138,336,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03076:Vwa5b1
|
APN |
4 |
138,327,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03115:Vwa5b1
|
APN |
4 |
138,327,460 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03119:Vwa5b1
|
APN |
4 |
138,333,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4283001:Vwa5b1
|
UTSW |
4 |
138,327,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Vwa5b1
|
UTSW |
4 |
138,336,169 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Vwa5b1
|
UTSW |
4 |
138,332,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0528:Vwa5b1
|
UTSW |
4 |
138,321,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Vwa5b1
|
UTSW |
4 |
138,363,022 (GRCm39) |
splice site |
probably benign |
|
|
R0718:Vwa5b1
|
UTSW |
4 |
138,336,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1555:Vwa5b1
|
UTSW |
4 |
138,332,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1573:Vwa5b1
|
UTSW |
4 |
138,332,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Vwa5b1
|
UTSW |
4 |
138,296,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Vwa5b1
|
UTSW |
4 |
138,302,700 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1906:Vwa5b1
|
UTSW |
4 |
138,327,547 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1913:Vwa5b1
|
UTSW |
4 |
138,319,331 (GRCm39) |
nonsense |
probably null |
|
|
R2121:Vwa5b1
|
UTSW |
4 |
138,315,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2213:Vwa5b1
|
UTSW |
4 |
138,332,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2355:Vwa5b1
|
UTSW |
4 |
138,319,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2655:Vwa5b1
|
UTSW |
4 |
138,321,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4134:Vwa5b1
|
UTSW |
4 |
138,321,641 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4135:Vwa5b1
|
UTSW |
4 |
138,321,641 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4635:Vwa5b1
|
UTSW |
4 |
138,338,150 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4773:Vwa5b1
|
UTSW |
4 |
138,309,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4832:Vwa5b1
|
UTSW |
4 |
138,332,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Vwa5b1
|
UTSW |
4 |
138,338,058 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4916:Vwa5b1
|
UTSW |
4 |
138,321,573 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4995:Vwa5b1
|
UTSW |
4 |
138,336,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Vwa5b1
|
UTSW |
4 |
138,336,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Vwa5b1
|
UTSW |
4 |
138,305,962 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6255:Vwa5b1
|
UTSW |
4 |
138,305,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6811:Vwa5b1
|
UTSW |
4 |
138,319,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6901:Vwa5b1
|
UTSW |
4 |
138,313,880 (GRCm39) |
missense |
probably benign |
|
|
R7144:Vwa5b1
|
UTSW |
4 |
138,332,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7146:Vwa5b1
|
UTSW |
4 |
138,308,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7159:Vwa5b1
|
UTSW |
4 |
138,302,733 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7362:Vwa5b1
|
UTSW |
4 |
138,321,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Vwa5b1
|
UTSW |
4 |
138,318,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7908:Vwa5b1
|
UTSW |
4 |
138,296,481 (GRCm39) |
nonsense |
probably null |
|
|
R7965:Vwa5b1
|
UTSW |
4 |
138,332,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Vwa5b1
|
UTSW |
4 |
138,308,530 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8866:Vwa5b1
|
UTSW |
4 |
138,327,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Vwa5b1
|
UTSW |
4 |
138,305,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Vwa5b1
|
UTSW |
4 |
138,338,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9045:Vwa5b1
|
UTSW |
4 |
138,315,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9089:Vwa5b1
|
UTSW |
4 |
138,296,742 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9273:Vwa5b1
|
UTSW |
4 |
138,316,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Vwa5b1
|
UTSW |
4 |
138,318,229 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9450:Vwa5b1
|
UTSW |
4 |
138,315,940 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Vwa5b1
|
UTSW |
4 |
138,340,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAACCTTCCCTGTGTTG -3'
(R):5'- GGAGTTAAGAGCTCAAAACCCC -3'
Sequencing Primer
(F):5'- GTGTTGTTCACGGACCCATC -3'
(R):5'- AAACCCCACCTTTTTCGGAGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation