Incidental Mutation 'R6724:Vwa3b'
ID |
529731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3b
|
Ensembl Gene |
ENSMUSG00000050122 |
Gene Name |
von Willebrand factor A domain containing 3B |
Synonyms |
A230074B11Rik, 4921511C04Rik |
MMRRC Submission |
044842-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R6724 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 37084112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 95
(R95Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
[ENSMUST00000067178]
[ENSMUST00000117172]
[ENSMUST00000124404]
[ENSMUST00000162449]
|
AlphaFold |
A0A571BE33 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027289
AA Change: R95Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027289 Gene: ENSMUSG00000050122 AA Change: R95Q
Domain | Start | End | E-Value | Type |
Pfam:DUF4537
|
159 |
285 |
9.1e-36 |
PFAM |
low complexity region
|
327 |
336 |
N/A |
INTRINSIC |
low complexity region
|
345 |
364 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067178
AA Change: R95Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069700 Gene: ENSMUSG00000050122 AA Change: R95Q
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117172
AA Change: R95Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114022 Gene: ENSMUSG00000050122 AA Change: R95Q
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124404
AA Change: R95Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141690 Gene: ENSMUSG00000050122 AA Change: R95Q
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
5e-16 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162449
AA Change: R95Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125460 Gene: ENSMUSG00000050122 AA Change: R95Q
Domain | Start | End | E-Value | Type |
Blast:VWA
|
112 |
272 |
7e-16 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
T |
A |
16: 85,665,445 (GRCm39) |
T619S |
probably benign |
Het |
Adgra2 |
G |
A |
8: 27,604,210 (GRCm39) |
A467T |
possibly damaging |
Het |
Alox5 |
A |
T |
6: 116,391,509 (GRCm39) |
I416N |
probably damaging |
Het |
Blmh |
A |
G |
11: 76,862,733 (GRCm39) |
|
probably null |
Het |
Cftr |
T |
A |
6: 18,255,973 (GRCm39) |
Y567* |
probably null |
Het |
Cnr1 |
T |
A |
4: 33,944,728 (GRCm39) |
M372K |
possibly damaging |
Het |
Col6a3 |
T |
C |
1: 90,706,874 (GRCm39) |
T2080A |
unknown |
Het |
Crybg3 |
A |
T |
16: 59,364,501 (GRCm39) |
C2374S |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,457,164 (GRCm39) |
I3544V |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,518,180 (GRCm39) |
D1809V |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dnajb12 |
A |
G |
10: 59,728,602 (GRCm39) |
D190G |
possibly damaging |
Het |
Dtnb |
T |
A |
12: 3,736,817 (GRCm39) |
V319D |
probably damaging |
Het |
Eif1ad6 |
A |
T |
12: 87,668,754 (GRCm39) |
I129F |
unknown |
Het |
Ercc6 |
A |
T |
14: 32,288,288 (GRCm39) |
E820V |
probably benign |
Het |
Fip1l1 |
T |
G |
5: 74,752,435 (GRCm39) |
V378G |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,911,552 (GRCm39) |
Y358F |
possibly damaging |
Het |
Gcn1 |
T |
G |
5: 115,747,217 (GRCm39) |
|
probably null |
Het |
Gm11011 |
T |
A |
2: 169,429,402 (GRCm39) |
T28S |
unknown |
Het |
Guf1 |
C |
A |
5: 69,723,736 (GRCm39) |
N438K |
probably damaging |
Het |
Hoxa7 |
T |
C |
6: 52,192,719 (GRCm39) |
E223G |
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
Ipo8 |
A |
T |
6: 148,711,473 (GRCm39) |
|
probably null |
Het |
Isl2 |
A |
G |
9: 55,448,572 (GRCm39) |
D3G |
possibly damaging |
Het |
Kcnb2 |
A |
G |
1: 15,780,664 (GRCm39) |
Y512C |
probably damaging |
Het |
Kifc1 |
T |
A |
17: 34,105,707 (GRCm39) |
|
probably null |
Het |
Klhdc10 |
A |
G |
6: 30,446,640 (GRCm39) |
D183G |
probably damaging |
Het |
Klra5 |
T |
A |
6: 129,883,643 (GRCm39) |
K71N |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,463,504 (GRCm39) |
H559R |
possibly damaging |
Het |
Maml3 |
T |
C |
3: 51,763,296 (GRCm39) |
N556S |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 65,038,264 (GRCm39) |
I83V |
possibly damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,884,786 (GRCm39) |
S293P |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,535,479 (GRCm39) |
S1282P |
probably damaging |
Het |
Npepps |
A |
T |
11: 97,096,828 (GRCm39) |
|
probably benign |
Het |
Or4a72 |
A |
T |
2: 89,405,309 (GRCm39) |
F254I |
probably benign |
Het |
Or4c108 |
T |
G |
2: 88,803,612 (GRCm39) |
I208L |
probably benign |
Het |
Or8u10 |
A |
T |
2: 85,915,701 (GRCm39) |
V140E |
possibly damaging |
Het |
Or9m1 |
T |
G |
2: 87,733,946 (GRCm39) |
S25R |
probably benign |
Het |
Pkn3 |
C |
A |
2: 29,980,562 (GRCm39) |
R818S |
possibly damaging |
Het |
Plekha3 |
T |
A |
2: 76,517,745 (GRCm39) |
H190Q |
probably damaging |
Het |
Ppp2r3c |
A |
T |
12: 55,335,281 (GRCm39) |
S261T |
probably benign |
Het |
Ptprj |
T |
C |
2: 90,281,195 (GRCm39) |
D1015G |
probably benign |
Het |
Pus10 |
T |
C |
11: 23,679,037 (GRCm39) |
M503T |
possibly damaging |
Het |
Pvr |
T |
C |
7: 19,652,604 (GRCm39) |
R104G |
possibly damaging |
Het |
Rubcnl |
A |
G |
14: 75,289,450 (GRCm39) |
R653G |
probably benign |
Het |
Semp2l2a |
A |
T |
8: 13,887,083 (GRCm39) |
L336Q |
probably damaging |
Het |
Serpina1a |
G |
T |
12: 103,826,679 (GRCm39) |
|
probably benign |
Het |
Shank3 |
G |
A |
15: 89,416,656 (GRCm39) |
R265Q |
probably damaging |
Het |
Slc22a22 |
C |
T |
15: 57,110,928 (GRCm39) |
R433H |
probably damaging |
Het |
Slc22a26 |
A |
G |
19: 7,779,726 (GRCm39) |
I30T |
probably benign |
Het |
Spz1 |
A |
T |
13: 92,711,992 (GRCm39) |
N161K |
possibly damaging |
Het |
Tacc2 |
A |
G |
7: 130,330,492 (GRCm39) |
R259G |
probably damaging |
Het |
Top1 |
G |
A |
2: 160,554,616 (GRCm39) |
V456M |
probably damaging |
Het |
Tpcn2 |
G |
A |
7: 144,810,257 (GRCm39) |
A649V |
probably benign |
Het |
Trank1 |
C |
G |
9: 111,194,984 (GRCm39) |
R1003G |
probably damaging |
Het |
Tril |
T |
A |
6: 53,796,559 (GRCm39) |
H221L |
possibly damaging |
Het |
Unc79 |
C |
T |
12: 103,071,120 (GRCm39) |
T1305I |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,722,350 (GRCm39) |
A2988V |
possibly damaging |
Het |
Vinac1 |
A |
C |
2: 128,879,976 (GRCm39) |
V650G |
probably benign |
Het |
Vmn1r81 |
A |
T |
7: 11,994,599 (GRCm39) |
M3K |
probably damaging |
Het |
Vmn2r78 |
A |
T |
7: 86,603,466 (GRCm39) |
D548V |
probably damaging |
Het |
Wdr6 |
G |
A |
9: 108,452,093 (GRCm39) |
H597Y |
probably benign |
Het |
Yme1l1 |
C |
T |
2: 23,084,774 (GRCm39) |
T624I |
probably damaging |
Het |
|
Other mutations in Vwa3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01404:Vwa3b
|
APN |
1 |
37,193,117 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02236:Vwa3b
|
APN |
1 |
37,193,132 (GRCm39) |
splice site |
probably benign |
|
IGL02653:Vwa3b
|
APN |
1 |
37,214,646 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02823:Vwa3b
|
APN |
1 |
37,225,985 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03030:Vwa3b
|
APN |
1 |
37,084,049 (GRCm39) |
missense |
probably damaging |
1.00 |
P0014:Vwa3b
|
UTSW |
1 |
37,212,995 (GRCm39) |
utr 3 prime |
probably benign |
|
R0035:Vwa3b
|
UTSW |
1 |
37,204,770 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0102:Vwa3b
|
UTSW |
1 |
37,174,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R0556:Vwa3b
|
UTSW |
1 |
37,203,566 (GRCm39) |
splice site |
probably benign |
|
R1061:Vwa3b
|
UTSW |
1 |
37,196,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R1386:Vwa3b
|
UTSW |
1 |
37,090,962 (GRCm39) |
critical splice donor site |
probably null |
|
R2441:Vwa3b
|
UTSW |
1 |
37,182,150 (GRCm39) |
unclassified |
probably benign |
|
R3117:Vwa3b
|
UTSW |
1 |
37,148,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3119:Vwa3b
|
UTSW |
1 |
37,148,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4081:Vwa3b
|
UTSW |
1 |
37,074,905 (GRCm39) |
missense |
probably damaging |
0.99 |
R4393:Vwa3b
|
UTSW |
1 |
37,084,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R4897:Vwa3b
|
UTSW |
1 |
37,153,684 (GRCm39) |
splice site |
probably benign |
|
R4950:Vwa3b
|
UTSW |
1 |
37,124,413 (GRCm39) |
missense |
probably benign |
0.00 |
R4978:Vwa3b
|
UTSW |
1 |
37,154,752 (GRCm39) |
missense |
probably damaging |
0.99 |
R5141:Vwa3b
|
UTSW |
1 |
37,226,102 (GRCm39) |
utr 3 prime |
probably benign |
|
R5286:Vwa3b
|
UTSW |
1 |
37,084,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R5356:Vwa3b
|
UTSW |
1 |
37,153,664 (GRCm39) |
missense |
probably damaging |
0.99 |
R5426:Vwa3b
|
UTSW |
1 |
37,154,752 (GRCm39) |
missense |
probably damaging |
0.99 |
R5480:Vwa3b
|
UTSW |
1 |
37,139,787 (GRCm39) |
nonsense |
probably null |
|
R5727:Vwa3b
|
UTSW |
1 |
37,174,600 (GRCm39) |
missense |
probably benign |
0.10 |
R5876:Vwa3b
|
UTSW |
1 |
37,115,520 (GRCm39) |
missense |
probably damaging |
0.97 |
R6191:Vwa3b
|
UTSW |
1 |
37,153,612 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6219:Vwa3b
|
UTSW |
1 |
37,139,779 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6250:Vwa3b
|
UTSW |
1 |
37,090,966 (GRCm39) |
splice site |
probably null |
|
R6281:Vwa3b
|
UTSW |
1 |
37,163,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R6419:Vwa3b
|
UTSW |
1 |
37,196,457 (GRCm39) |
missense |
probably benign |
0.01 |
R6467:Vwa3b
|
UTSW |
1 |
37,124,367 (GRCm39) |
missense |
probably benign |
0.01 |
R6512:Vwa3b
|
UTSW |
1 |
37,102,723 (GRCm39) |
intron |
probably benign |
|
R6541:Vwa3b
|
UTSW |
1 |
37,090,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R6728:Vwa3b
|
UTSW |
1 |
37,196,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R7046:Vwa3b
|
UTSW |
1 |
37,212,959 (GRCm39) |
missense |
probably benign |
|
R7117:Vwa3b
|
UTSW |
1 |
37,174,634 (GRCm39) |
missense |
|
|
R7304:Vwa3b
|
UTSW |
1 |
37,203,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R7402:Vwa3b
|
UTSW |
1 |
37,153,678 (GRCm39) |
nonsense |
probably null |
|
R7762:Vwa3b
|
UTSW |
1 |
37,163,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R7911:Vwa3b
|
UTSW |
1 |
37,193,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R8213:Vwa3b
|
UTSW |
1 |
37,168,020 (GRCm39) |
missense |
probably benign |
0.07 |
R8402:Vwa3b
|
UTSW |
1 |
37,204,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R8697:Vwa3b
|
UTSW |
1 |
37,115,461 (GRCm39) |
missense |
probably benign |
0.09 |
R8758:Vwa3b
|
UTSW |
1 |
37,176,873 (GRCm39) |
missense |
|
|
R8874:Vwa3b
|
UTSW |
1 |
37,074,839 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9011:Vwa3b
|
UTSW |
1 |
37,154,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R9012:Vwa3b
|
UTSW |
1 |
37,124,391 (GRCm39) |
missense |
probably benign |
0.15 |
R9015:Vwa3b
|
UTSW |
1 |
37,203,597 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9102:Vwa3b
|
UTSW |
1 |
37,174,593 (GRCm39) |
start codon destroyed |
probably null |
|
R9263:Vwa3b
|
UTSW |
1 |
37,099,493 (GRCm39) |
missense |
probably benign |
0.43 |
R9277:Vwa3b
|
UTSW |
1 |
37,196,534 (GRCm39) |
critical splice donor site |
probably null |
|
R9294:Vwa3b
|
UTSW |
1 |
37,074,882 (GRCm39) |
missense |
probably damaging |
0.99 |
R9341:Vwa3b
|
UTSW |
1 |
37,153,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R9343:Vwa3b
|
UTSW |
1 |
37,153,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R9502:Vwa3b
|
UTSW |
1 |
37,099,520 (GRCm39) |
missense |
probably damaging |
0.99 |
R9758:Vwa3b
|
UTSW |
1 |
37,081,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGCTGAAATCTCTTTCCCG -3'
(R):5'- TGAACCTGGTGATGAGAGCC -3'
Sequencing Primer
(F):5'- GAACACTTTCTAGTTCGTGGC -3'
(R):5'- GTGATGAGAGCCACCTGC -3'
|
Posted On |
2018-08-01 |