Incidental Mutation 'R6419:Vwa3b'
| ID |
517977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3b
|
| Ensembl Gene |
ENSMUSG00000050122 |
| Gene Name |
von Willebrand factor A domain containing 3B |
| Synonyms |
A230074B11Rik, 4921511C04Rik |
| MMRRC Submission |
044561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
37068372-37226689 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37196457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 28
(V28A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132886
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027289]
[ENSMUST00000169057]
|
| AlphaFold |
A0A571BE33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027289
|
| SMART Domains |
Protein: ENSMUSP00000027289
Gene: ENSMUSG00000050122
| 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 benign
Transcript: ENSMUST00000169057
AA Change: V28A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
96% (67/70) |
| Allele List at MGI |
All alleles(71) : Targeted(3) Gene trapped(68)
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578G10Rik |
T |
C |
4: 42,812,473 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
T |
A |
19: 43,825,947 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
C |
T |
15: 11,215,759 (GRCm39) |
T260M |
possibly damaging |
Het |
| Adamts20 |
C |
T |
15: 94,231,556 (GRCm39) |
V878I |
possibly damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,144,953 (GRCm39) |
E34G |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,796,803 (GRCm39) |
I293N |
probably damaging |
Het |
| Atosa |
G |
A |
9: 74,916,619 (GRCm39) |
S413N |
probably benign |
Het |
| B3galt2 |
A |
T |
1: 143,522,839 (GRCm39) |
E325V |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,271,348 (GRCm39) |
H1310Q |
probably benign |
Het |
| Ccdc125 |
T |
A |
13: 100,826,834 (GRCm39) |
N204K |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,002,150 (GRCm39) |
D284N |
probably benign |
Het |
| Cdh12 |
T |
C |
15: 21,520,483 (GRCm39) |
L316S |
probably damaging |
Het |
| Cenpv |
T |
C |
11: 62,416,008 (GRCm39) |
K247R |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,574,801 (GRCm39) |
H257R |
possibly damaging |
Het |
| Cnot8 |
T |
A |
11: 58,004,891 (GRCm39) |
Y197N |
probably damaging |
Het |
| Cog3 |
A |
T |
14: 75,962,178 (GRCm39) |
C554* |
probably null |
Het |
| Col4a4 |
A |
G |
1: 82,444,207 (GRCm39) |
|
probably null |
Het |
| Cops5 |
G |
A |
1: 10,103,532 (GRCm39) |
T158I |
probably damaging |
Het |
| Dhh |
A |
G |
15: 98,792,282 (GRCm39) |
F242S |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,627,315 (GRCm39) |
V1512A |
possibly damaging |
Het |
| Dstn |
T |
G |
2: 143,781,907 (GRCm39) |
I116S |
possibly damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,398 (GRCm39) |
D326N |
probably damaging |
Het |
| Enpp3 |
A |
T |
10: 24,684,089 (GRCm39) |
Y52N |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,119,426 (GRCm39) |
S359P |
probably benign |
Het |
| Gbp7 |
G |
A |
3: 142,252,214 (GRCm39) |
G599E |
probably benign |
Het |
| Gcat |
T |
G |
15: 78,920,264 (GRCm39) |
I198S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,466,755 (GRCm39) |
K82R |
unknown |
Het |
| Grin2b |
A |
G |
6: 135,717,965 (GRCm39) |
F709S |
probably damaging |
Het |
| Grm3 |
T |
C |
5: 9,620,201 (GRCm39) |
N348D |
probably damaging |
Het |
| Hdgfl1 |
G |
A |
13: 26,954,075 (GRCm39) |
|
probably benign |
Het |
| Hmgxb3 |
G |
T |
18: 61,285,296 (GRCm39) |
D564E |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Impg1 |
A |
G |
9: 80,287,300 (GRCm39) |
V305A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,334,414 (GRCm39) |
S313T |
possibly damaging |
Het |
| Knl1 |
T |
A |
2: 118,899,484 (GRCm39) |
I395K |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,708,459 (GRCm39) |
Y196* |
probably null |
Het |
| Lad1 |
T |
C |
1: 135,759,630 (GRCm39) |
S509P |
possibly damaging |
Het |
| Ltf |
T |
C |
9: 110,860,090 (GRCm39) |
F504L |
possibly damaging |
Het |
| Med4 |
A |
T |
14: 73,751,363 (GRCm39) |
D104V |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,301,073 (GRCm39) |
N128Y |
probably damaging |
Het |
| Ndufs2 |
T |
C |
1: 171,068,668 (GRCm39) |
T54A |
probably benign |
Het |
| Notch2 |
G |
T |
3: 98,007,705 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
T |
3: 109,690,169 (GRCm39) |
N424K |
possibly damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,009,113 (GRCm39) |
W301* |
probably null |
Het |
| Or5b116 |
T |
A |
19: 13,423,131 (GRCm39) |
S252T |
probably benign |
Het |
| Otud6b |
A |
G |
4: 14,822,766 (GRCm39) |
S113P |
possibly damaging |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,608 (GRCm39) |
N378S |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,473,975 (GRCm39) |
S185P |
possibly damaging |
Het |
| Ptprn |
G |
A |
1: 75,240,681 (GRCm39) |
R31C |
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,698,117 (GRCm39) |
V478M |
probably damaging |
Het |
| Sema6b |
A |
T |
17: 56,439,784 (GRCm39) |
L19* |
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,894,881 (GRCm39) |
|
probably null |
Het |
| Spen |
A |
T |
4: 141,203,621 (GRCm39) |
S1669T |
unknown |
Het |
| Syne2 |
T |
C |
12: 76,143,740 (GRCm39) |
F1522L |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,185,783 (GRCm39) |
A470T |
possibly damaging |
Het |
| Tent4a |
A |
C |
13: 69,658,785 (GRCm39) |
M350R |
possibly damaging |
Het |
| Tiam1 |
C |
A |
16: 89,694,912 (GRCm39) |
E182* |
probably null |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
C |
T |
1: 84,771,591 (GRCm39) |
A186T |
probably damaging |
Het |
| Ufc1 |
C |
T |
1: 171,116,529 (GRCm39) |
A147T |
probably damaging |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,777 (GRCm39) |
K314R |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,323,085 (GRCm39) |
I68K |
possibly damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,767 (GRCm39) |
I698F |
probably damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,795 (GRCm39) |
K607R |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,373,236 (GRCm39) |
N166S |
possibly damaging |
Het |
| Wfdc17 |
G |
A |
11: 83,595,634 (GRCm39) |
G33R |
probably damaging |
Het |
| Zfp330 |
T |
G |
8: 83,491,545 (GRCm39) |
K209N |
probably benign |
Het |
| Zfp493 |
A |
G |
13: 67,934,526 (GRCm39) |
T160A |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,610,940 (GRCm39) |
C262S |
possibly 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 |
|
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 |
|
R6724:Vwa3b
|
UTSW |
1 |
37,084,112 (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'- AGTTATGACAAAGGTTTCCTGAAGC -3'
(R):5'- GCGCATGAGCTCTTACTTCC -3'
Sequencing Primer
(F):5'- CTGTTGGTTTTGTTTTATGGTAGTG -3'
(R):5'- ATGAGCTCTTACTTCCAGGCTGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation