Incidental Mutation 'R4160:Vat1l'
ID |
315702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vat1l
|
Ensembl Gene |
ENSMUSG00000046844 |
Gene Name |
vesicle amine transport protein 1 like |
Synonyms |
|
MMRRC Submission |
041003-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4160 (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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
89% (34/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf4 |
G |
T |
17: 42,978,568 (GRCm39) |
H258Q |
probably benign |
Het |
Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
Arhgef19 |
T |
C |
4: 140,973,660 (GRCm39) |
I49T |
possibly damaging |
Het |
Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
Cacnb3 |
G |
T |
15: 98,538,601 (GRCm39) |
G148C |
probably 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 |
D130043K22Rik |
A |
C |
13: 25,046,679 (GRCm39) |
E360D |
probably benign |
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 |
Ibtk |
T |
C |
9: 85,585,143 (GRCm39) |
E1167G |
probably benign |
Het |
Ikzf4 |
A |
T |
10: 128,479,605 (GRCm39) |
|
probably benign |
Het |
Magi3 |
T |
C |
3: 103,958,277 (GRCm39) |
K603E |
probably damaging |
Het |
Myh13 |
T |
C |
11: 67,255,636 (GRCm39) |
|
probably benign |
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 |
Pdia3 |
A |
T |
2: 121,244,596 (GRCm39) |
D26V |
probably damaging |
Het |
Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
Pkn2 |
G |
A |
3: 142,509,325 (GRCm39) |
P740S |
probably benign |
Het |
Pla2r1 |
A |
T |
2: 60,252,966 (GRCm39) |
I1375K |
probably damaging |
Het |
Pld2 |
T |
C |
11: 70,432,253 (GRCm39) |
L124P |
probably damaging |
Het |
Ppp6r3 |
T |
A |
19: 3,562,037 (GRCm39) |
H208L |
probably damaging |
Het |
Prr36 |
G |
T |
8: 4,262,910 (GRCm39) |
Q919K |
probably benign |
Het |
Ptpn1 |
T |
C |
2: 167,809,731 (GRCm39) |
I113T |
probably benign |
Het |
Ptprz1 |
T |
C |
6: 23,022,204 (GRCm39) |
I844T |
possibly damaging |
Het |
Rbl1 |
A |
G |
2: 157,034,039 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
Slc26a7 |
T |
C |
4: 14,544,197 (GRCm39) |
T369A |
probably benign |
Het |
Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
Vps11 |
C |
G |
9: 44,267,017 (GRCm39) |
G406A |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
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 |
R4158: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'- GCTTCAGTCCATCCCATGATG -3'
(R):5'- TACTGCATGGAATGGGATTGGC -3'
Sequencing Primer
(F):5'- ATGATGCTTCAGTCCATCTCAGTG -3'
(R):5'- GGGATTGGCACTTAATTCCAAACAC -3'
|
Posted On |
2015-05-14 |