Incidental Mutation 'R2213:Vwa5b1'
| ID |
239512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa5b1
|
| Ensembl Gene |
ENSMUSG00000028753 |
| Gene Name |
von Willebrand factor A domain containing 5B1 |
| Synonyms |
4931403E03Rik |
| MMRRC Submission |
040215-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2213 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
138292671-138363195 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138332123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 298
(K298R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030533]
[ENSMUST00000105812]
|
| AlphaFold |
A9Z1V5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030533
AA Change: K298R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030533
Gene: ENSMUSG00000028753
AA Change: K298R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133319
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154312
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,326,247 (GRCm39) |
D78G |
probably damaging |
Het |
| Anxa1 |
C |
T |
19: 20,360,239 (GRCm39) |
R124H |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,846,230 (GRCm39) |
|
probably null |
Het |
| C87436 |
G |
A |
6: 86,422,455 (GRCm39) |
V10I |
probably benign |
Het |
| Ces1a |
G |
T |
8: 93,751,853 (GRCm39) |
P427Q |
probably damaging |
Het |
| Cpm |
T |
C |
10: 117,495,744 (GRCm39) |
Y78H |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,683,843 (GRCm39) |
T1663I |
possibly damaging |
Het |
| Cul7 |
T |
C |
17: 46,962,398 (GRCm39) |
F10L |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,547,852 (GRCm39) |
N130S |
probably benign |
Het |
| Dclk1 |
G |
A |
3: 55,387,854 (GRCm39) |
C100Y |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,585,691 (GRCm39) |
L135P |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,613,245 (GRCm39) |
S211P |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,460,485 (GRCm39) |
K970N |
probably benign |
Het |
| Eps15 |
A |
G |
4: 109,218,417 (GRCm39) |
K391E |
probably damaging |
Het |
| Fabp9 |
A |
G |
3: 10,259,860 (GRCm39) |
V51A |
probably damaging |
Het |
| Flg |
T |
C |
3: 93,200,335 (GRCm39) |
|
probably benign |
Het |
| Flnb |
AAGGAG |
AAG |
14: 7,881,652 (GRCm38) |
|
probably benign |
Het |
| Fscb |
A |
T |
12: 64,520,890 (GRCm39) |
I192N |
possibly damaging |
Het |
| Galntl5 |
A |
G |
5: 25,422,527 (GRCm39) |
I333V |
probably benign |
Het |
| Gcnt3 |
A |
T |
9: 69,941,989 (GRCm39) |
V193E |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,839,313 (GRCm39) |
F535S |
probably damaging |
Het |
| Gpr87 |
A |
T |
3: 59,086,465 (GRCm39) |
S347T |
probably damaging |
Het |
| Gstm2 |
C |
T |
3: 107,893,409 (GRCm39) |
R18H |
probably damaging |
Het |
| H1f7 |
T |
A |
15: 98,154,219 (GRCm39) |
Q310L |
unknown |
Het |
| Haus6 |
C |
T |
4: 86,500,229 (GRCm39) |
E927K |
possibly damaging |
Het |
| Hunk |
A |
G |
16: 90,229,505 (GRCm39) |
N122S |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,612,670 (GRCm39) |
V232E |
probably damaging |
Het |
| Jag1 |
G |
T |
2: 136,931,812 (GRCm39) |
D586E |
probably benign |
Het |
| Klk1b1 |
T |
C |
7: 43,619,905 (GRCm39) |
S155P |
probably damaging |
Het |
| Lama1 |
G |
T |
17: 68,084,029 (GRCm39) |
G1424* |
probably null |
Het |
| Lrp1 |
T |
A |
10: 127,376,571 (GRCm39) |
N4279I |
probably damaging |
Het |
| Lrrc43 |
G |
A |
5: 123,641,640 (GRCm39) |
V525I |
possibly damaging |
Het |
| Lrrc4c |
G |
A |
2: 97,460,816 (GRCm39) |
V481M |
probably benign |
Het |
| Mecr |
T |
A |
4: 131,581,126 (GRCm39) |
|
probably null |
Het |
| Megf10 |
T |
A |
18: 57,421,081 (GRCm39) |
Y906* |
probably null |
Het |
| Mpdz |
A |
G |
4: 81,228,409 (GRCm39) |
F1319L |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,248,780 (GRCm39) |
E364G |
possibly damaging |
Het |
| Nelfe |
T |
A |
17: 35,072,859 (GRCm39) |
D160E |
probably benign |
Het |
| Nin |
A |
G |
12: 70,092,128 (GRCm39) |
L727P |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,463,681 (GRCm39) |
T155A |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,476,945 (GRCm39) |
D242G |
probably benign |
Het |
| Or4a78 |
A |
T |
2: 89,497,891 (GRCm39) |
L113Q |
probably damaging |
Het |
| Pnlip |
T |
C |
19: 58,662,202 (GRCm39) |
V116A |
probably benign |
Het |
| Prl7a2 |
T |
A |
13: 27,849,051 (GRCm39) |
L79F |
probably benign |
Het |
| Rbm25 |
A |
T |
12: 83,722,856 (GRCm39) |
I760L |
probably benign |
Het |
| Rbms3 |
A |
T |
9: 116,788,534 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rps10 |
C |
A |
17: 27,849,473 (GRCm39) |
|
probably benign |
Het |
| Slc35e4 |
T |
C |
11: 3,863,159 (GRCm39) |
E10G |
possibly damaging |
Het |
| Smad2 |
A |
T |
18: 76,437,697 (GRCm39) |
T434S |
probably damaging |
Het |
| Sox30 |
C |
T |
11: 45,875,679 (GRCm39) |
S477F |
probably damaging |
Het |
| Speer4a3 |
G |
T |
5: 26,158,175 (GRCm39) |
T59K |
probably benign |
Het |
| Stat4 |
A |
T |
1: 52,053,014 (GRCm39) |
D65V |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,931,147 (GRCm39) |
D366G |
probably damaging |
Het |
| Syngap1 |
C |
A |
17: 27,172,043 (GRCm39) |
R84S |
probably damaging |
Het |
| Synpo2l |
A |
G |
14: 20,710,734 (GRCm39) |
Y629H |
probably damaging |
Het |
| Taf4 |
A |
T |
2: 179,577,683 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,769,527 (GRCm39) |
H68R |
probably benign |
Het |
| Txndc8 |
T |
A |
4: 57,984,199 (GRCm39) |
Q144L |
probably benign |
Het |
| Tyr |
T |
G |
7: 87,142,086 (GRCm39) |
Q158P |
probably damaging |
Het |
| Uchl3 |
T |
A |
14: 101,904,106 (GRCm39) |
|
probably null |
Het |
| Wrn |
T |
C |
8: 33,747,043 (GRCm39) |
N891S |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,116,492 (GRCm39) |
S2125G |
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 |
|
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 |
|
R9646:Vwa5b1
|
UTSW |
4 |
138,319,420 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Vwa5b1
|
UTSW |
4 |
138,340,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCCACCAGTTTAGGATGTG -3'
(R):5'- TGCAAAGATGGTGGCGCTAG -3'
Sequencing Primer
(F):5'- CACCAGTTTAGGATGTGACCTCAG -3'
(R):5'- GCTGCTTCACATTCAGAGATG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation