Incidental Mutation 'R5545:Vnn3'
| ID |
501180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vnn3
|
| Ensembl Gene |
ENSMUSG00000020010 |
| Gene Name |
vanin 3 |
| Synonyms |
|
| MMRRC Submission |
043103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R5545 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
23727360-23745741 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23742992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 401
(I401V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020190]
|
| AlphaFold |
Q9QZ25 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020190
AA Change: I401V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000020190
Gene: ENSMUSG00000020010
AA Change: I401V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:CN_hydrolase
|
51 |
296 |
6.9e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
C |
3: 145,644,853 (GRCm39) |
|
probably null |
Het |
| Acot5 |
G |
A |
12: 84,116,380 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,292,594 (GRCm39) |
Y205F |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,041,235 (GRCm39) |
Y564C |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,978,801 (GRCm39) |
S551P |
|
Het |
| Cyp20a1 |
T |
C |
1: 60,415,241 (GRCm39) |
I289T |
possibly damaging |
Het |
| Herc6 |
A |
T |
6: 57,634,992 (GRCm39) |
|
probably null |
Het |
| Ifnar2 |
G |
A |
16: 91,181,913 (GRCm39) |
|
probably null |
Het |
| Kcnd2 |
A |
G |
6: 21,217,018 (GRCm39) |
T241A |
probably damaging |
Het |
| Nfatc2ip |
T |
A |
7: 125,989,642 (GRCm39) |
E247D |
possibly damaging |
Het |
| Or2k2 |
T |
G |
4: 58,785,585 (GRCm39) |
I46L |
probably benign |
Het |
| Or2o1 |
G |
A |
11: 49,051,453 (GRCm39) |
C204Y |
probably damaging |
Het |
| Pate10 |
A |
G |
9: 35,652,940 (GRCm39) |
I61V |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,061,886 (GRCm39) |
E638G |
probably damaging |
Het |
| Plin1 |
T |
C |
7: 79,376,257 (GRCm39) |
T160A |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,879,339 (GRCm39) |
N613I |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,709,830 (GRCm39) |
S1498G |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,157,099 (GRCm39) |
R598Q |
possibly damaging |
Het |
| Robo2 |
A |
C |
16: 73,758,635 (GRCm39) |
V712G |
probably damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,017,514 (GRCm39) |
F151L |
probably damaging |
Het |
| Scrn3 |
T |
A |
2: 73,166,125 (GRCm39) |
I386N |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,902,921 (GRCm39) |
Y1591F |
probably benign |
Het |
| Tbr1 |
T |
G |
2: 61,637,720 (GRCm39) |
V93G |
possibly damaging |
Het |
| Tmem229b |
A |
G |
12: 79,011,583 (GRCm39) |
I116T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,594,720 (GRCm39) |
Q12115R |
possibly damaging |
Het |
| Ube3a |
C |
T |
7: 58,921,772 (GRCm39) |
T48M |
probably damaging |
Het |
| Wdr90 |
C |
T |
17: 26,064,830 (GRCm39) |
R1744H |
probably damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,966,315 (GRCm39) |
D604G |
possibly damaging |
Het |
|
| Other mutations in Vnn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00675:Vnn3
|
APN |
10 |
23,743,066 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01300:Vnn3
|
APN |
10 |
23,740,263 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01349:Vnn3
|
APN |
10 |
23,727,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02491:Vnn3
|
APN |
10 |
23,741,816 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03256:Vnn3
|
APN |
10 |
23,727,698 (GRCm39) |
splice site |
probably benign |
|
|
IGL03289:Vnn3
|
APN |
10 |
23,741,735 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02799:Vnn3
|
UTSW |
10 |
23,727,869 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0599:Vnn3
|
UTSW |
10 |
23,741,603 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1703:Vnn3
|
UTSW |
10 |
23,741,828 (GRCm39) |
missense |
probably benign |
|
|
R1753:Vnn3
|
UTSW |
10 |
23,741,718 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2119:Vnn3
|
UTSW |
10 |
23,740,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2288:Vnn3
|
UTSW |
10 |
23,740,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4255:Vnn3
|
UTSW |
10 |
23,741,720 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4458:Vnn3
|
UTSW |
10 |
23,741,567 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4518:Vnn3
|
UTSW |
10 |
23,743,124 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4545:Vnn3
|
UTSW |
10 |
23,732,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4723:Vnn3
|
UTSW |
10 |
23,727,589 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4791:Vnn3
|
UTSW |
10 |
23,740,519 (GRCm39) |
missense |
probably benign |
|
|
R4921:Vnn3
|
UTSW |
10 |
23,740,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5152:Vnn3
|
UTSW |
10 |
23,740,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5390:Vnn3
|
UTSW |
10 |
23,727,483 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6197:Vnn3
|
UTSW |
10 |
23,732,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Vnn3
|
UTSW |
10 |
23,745,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6846:Vnn3
|
UTSW |
10 |
23,727,620 (GRCm39) |
missense |
probably benign |
|
|
R6917:Vnn3
|
UTSW |
10 |
23,741,832 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7073:Vnn3
|
UTSW |
10 |
23,740,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7100:Vnn3
|
UTSW |
10 |
23,741,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7152:Vnn3
|
UTSW |
10 |
23,727,513 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7336:Vnn3
|
UTSW |
10 |
23,727,806 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7421:Vnn3
|
UTSW |
10 |
23,741,666 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7875:Vnn3
|
UTSW |
10 |
23,743,146 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8353:Vnn3
|
UTSW |
10 |
23,745,443 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8453:Vnn3
|
UTSW |
10 |
23,745,443 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8465:Vnn3
|
UTSW |
10 |
23,741,780 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9105:Vnn3
|
UTSW |
10 |
23,740,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Vnn3
|
UTSW |
10 |
23,741,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9441:Vnn3
|
UTSW |
10 |
23,740,498 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9718:Vnn3
|
UTSW |
10 |
23,745,454 (GRCm39) |
nonsense |
probably null |
|
|
R9737:Vnn3
|
UTSW |
10 |
23,741,813 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGACCTTTAAAATTCTGTTGAC -3'
(R):5'- TGTATCCCCTTGAAGGCCTC -3'
Sequencing Primer
(F):5'- ACCAGGTCTACAGAGTGAGTTTCC -3'
(R):5'- CTTACTTCATAATATCTTTCCAGGGC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation