Incidental Mutation 'R4158:Vat1l'
ID |
315627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vat1l
|
Ensembl Gene |
ENSMUSG00000046844 |
Gene Name |
vesicle amine transport protein 1 like |
Synonyms |
|
MMRRC Submission |
041001-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4158 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
114932352-115100811 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115098469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 413
(M413K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049509]
|
AlphaFold |
Q80TB8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049509
AA Change: M413K
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000053431 Gene: ENSMUSG00000046844 AA Change: M413K
Domain | Start | End | E-Value | Type |
Pfam:ADH_N
|
66 |
142 |
3.9e-14 |
PFAM |
Pfam:ADH_zinc_N
|
190 |
302 |
1.4e-11 |
PFAM |
Pfam:ADH_zinc_N_2
|
221 |
376 |
1.1e-14 |
PFAM |
low complexity region
|
389 |
408 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124143
|
Meta Mutation Damage Score |
0.1042 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,103,854 (GRCm39) |
H597R |
probably damaging |
Het |
Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
Arg1 |
T |
C |
10: 24,798,575 (GRCm39) |
E25G |
probably damaging |
Het |
Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
Bsn |
A |
G |
9: 107,990,145 (GRCm39) |
V1869A |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,808,621 (GRCm39) |
R652W |
probably damaging |
Het |
Cyp19a1 |
G |
A |
9: 54,093,980 (GRCm39) |
T94I |
probably damaging |
Het |
Dnajc13 |
G |
A |
9: 104,067,641 (GRCm39) |
L1173F |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,330 (GRCm39) |
F587L |
probably damaging |
Het |
Efcab14 |
A |
C |
4: 115,597,594 (GRCm39) |
D63A |
probably damaging |
Het |
Eomes |
A |
G |
9: 118,308,031 (GRCm39) |
T35A |
probably benign |
Het |
Fbxl20 |
T |
C |
11: 97,986,220 (GRCm39) |
|
probably benign |
Het |
Flcn |
T |
C |
11: 59,691,947 (GRCm39) |
N234S |
probably benign |
Het |
Gm20939 |
A |
T |
17: 95,184,162 (GRCm39) |
Y270F |
possibly damaging |
Het |
Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
Il22b |
T |
C |
10: 118,129,037 (GRCm39) |
T151A |
probably damaging |
Het |
Kcne4 |
A |
G |
1: 78,795,819 (GRCm39) |
N156D |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lrrc45 |
A |
T |
11: 120,609,272 (GRCm39) |
D377V |
possibly damaging |
Het |
Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
Mocos |
T |
C |
18: 24,807,303 (GRCm39) |
I345T |
probably damaging |
Het |
Nox4 |
A |
T |
7: 87,046,032 (GRCm39) |
H557L |
possibly damaging |
Het |
Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
Ptprz1 |
A |
T |
6: 23,001,683 (GRCm39) |
K1258* |
probably null |
Het |
Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,513,625 (GRCm39) |
N470S |
probably benign |
Het |
Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
Tex14 |
T |
G |
11: 87,407,595 (GRCm39) |
S900R |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
Zfp981 |
T |
A |
4: 146,622,339 (GRCm39) |
H421Q |
probably benign |
Het |
|
Other mutations in Vat1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01161:Vat1l
|
APN |
8 |
115,096,629 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03379:Vat1l
|
APN |
8 |
115,009,006 (GRCm39) |
missense |
probably damaging |
0.98 |
R0504:Vat1l
|
UTSW |
8 |
114,963,319 (GRCm39) |
splice site |
probably benign |
|
R1222:Vat1l
|
UTSW |
8 |
115,009,101 (GRCm39) |
splice site |
probably benign |
|
R1418:Vat1l
|
UTSW |
8 |
115,009,101 (GRCm39) |
splice site |
probably benign |
|
R1859:Vat1l
|
UTSW |
8 |
114,998,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R3777:Vat1l
|
UTSW |
8 |
114,963,540 (GRCm39) |
critical splice donor site |
probably null |
|
R3778:Vat1l
|
UTSW |
8 |
114,963,540 (GRCm39) |
critical splice donor site |
probably null |
|
R4154:Vat1l
|
UTSW |
8 |
114,932,543 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4160:Vat1l
|
UTSW |
8 |
115,098,469 (GRCm39) |
missense |
probably benign |
0.32 |
R4285:Vat1l
|
UTSW |
8 |
114,932,523 (GRCm39) |
missense |
probably damaging |
0.97 |
R4507:Vat1l
|
UTSW |
8 |
114,932,556 (GRCm39) |
missense |
probably benign |
0.02 |
R5316:Vat1l
|
UTSW |
8 |
115,011,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R6306:Vat1l
|
UTSW |
8 |
115,098,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R7031:Vat1l
|
UTSW |
8 |
114,998,172 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7162:Vat1l
|
UTSW |
8 |
114,963,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R7378:Vat1l
|
UTSW |
8 |
115,016,132 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7472:Vat1l
|
UTSW |
8 |
114,963,539 (GRCm39) |
critical splice donor site |
probably null |
|
R7662:Vat1l
|
UTSW |
8 |
115,009,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R9269:Vat1l
|
UTSW |
8 |
115,016,172 (GRCm39) |
missense |
probably damaging |
1.00 |
RF032:Vat1l
|
UTSW |
8 |
115,016,069 (GRCm39) |
missense |
probably damaging |
1.00 |
RF035:Vat1l
|
UTSW |
8 |
115,016,069 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Vat1l
|
UTSW |
8 |
114,963,363 (GRCm39) |
missense |
probably damaging |
1.00 |
X0062:Vat1l
|
UTSW |
8 |
114,963,362 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1188:Vat1l
|
UTSW |
8 |
114,932,463 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCCATGATGCTTCAGTCC -3'
(R):5'- AGGGACACAATACTGCATGG -3'
Sequencing Primer
(F):5'- ATGATGCTTCAGTCCATCTCAGTG -3'
(R):5'- GGGATTGGCACTTAATTCCAAACAC -3'
|
Posted On |
2015-05-14 |