Incidental Mutation 'R4507:Vat1l'
| ID |
332057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vat1l
|
| Ensembl Gene |
ENSMUSG00000046844 |
| Gene Name |
vesicle amine transport protein 1 like |
| Synonyms |
|
| MMRRC Submission |
041756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4507 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
114932352-115100811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114932556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 34
(L34P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049509]
[ENSMUST00000150963]
|
| AlphaFold |
Q80TB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049509
AA Change: L34P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053431
Gene: ENSMUSG00000046844
AA Change: L34P
| 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: ENSMUST00000142591
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150963
AA Change: L34P
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000116680
Gene: ENSMUSG00000046844
AA Change: L34P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADH_N
|
83 |
127 |
2.2e-6 |
PFAM |
|
| Meta Mutation Damage Score |
0.1108 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,601 (GRCm39) |
Y83C |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,953,851 (GRCm39) |
I863N |
probably benign |
Het |
| Abr |
A |
G |
11: 76,342,683 (GRCm39) |
I608T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,565 (GRCm39) |
Y485C |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,374,681 (GRCm39) |
K38E |
possibly damaging |
Het |
| Bhlhe22 |
T |
C |
3: 18,109,123 (GRCm39) |
S58P |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,027,633 (GRCm39) |
I418L |
probably damaging |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,447,087 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clic1 |
A |
G |
17: 35,271,761 (GRCm39) |
T52A |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,805,771 (GRCm39) |
R3407C |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,759,177 (GRCm39) |
|
probably null |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Folh1 |
T |
C |
7: 86,406,216 (GRCm39) |
T286A |
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,560,620 (GRCm39) |
I317N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,837,276 (GRCm39) |
L760I |
probably damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,387 (GRCm39) |
Y32F |
probably damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mdh1 |
C |
T |
11: 21,508,470 (GRCm39) |
V291M |
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,279,415 (GRCm39) |
T963A |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,774,065 (GRCm39) |
F1305L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,201 (GRCm39) |
F29S |
possibly damaging |
Het |
| Parp11 |
A |
G |
6: 127,451,246 (GRCm39) |
R99G |
probably damaging |
Het |
| Phactr1 |
C |
A |
13: 43,250,270 (GRCm39) |
T522N |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,014 (GRCm39) |
T1423A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,195,168 (GRCm39) |
I1253V |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,106,925 (GRCm39) |
M329T |
probably benign |
Het |
| Srrm4 |
T |
C |
5: 116,584,612 (GRCm39) |
Y486C |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,917,701 (GRCm39) |
D506G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,833 (GRCm39) |
I316V |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,013,786 (GRCm39) |
F952I |
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 |
|
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 |
|
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'- GCATCCCACATTCAACAGGAGG -3'
(R):5'- AGCATCCCCAATCTAGGCTCTC -3'
Sequencing Primer
(F):5'- TTCAACAGGAGGAACCCGCG -3'
(R):5'- AGGCTCTCCCACCCACTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation