Incidental Mutation 'RF032:Vat1l'
| ID |
604417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vat1l
|
| Ensembl Gene |
ENSMUSG00000046844 |
| Gene Name |
vesicle amine transport protein 1 like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
RF032 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
114932352-115100811 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115016069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 320
(L320F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049509]
|
| AlphaFold |
Q80TB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049509
AA Change: L320F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053431
Gene: ENSMUSG00000046844
AA Change: L320F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
TACCT |
TACCTGACCT |
17: 24,506,701 (GRCm39) |
|
probably null |
Het |
| Acap3 |
CTGCTG |
CTGCTGCATCCTGGGATGCTG |
4: 155,989,559 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GCG |
GCGTCG |
17: 5,045,863 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCC |
CTCCTCCTCCTCGTCC |
7: 80,162,678 (GRCm39) |
|
probably benign |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,302 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCCGTGG |
19: 47,129,722 (GRCm39) |
|
probably null |
Het |
| Cluh |
CCCGAGCC |
CCCGAGCCCGAGCC |
11: 74,560,341 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,466 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GT |
GTTGTGAAAGTGGTGGAAGTGGTGGAATT |
7: 30,466,607 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CGCC |
CGCCGCAGCC |
4: 141,602,083 (GRCm39) |
|
probably benign |
Het |
| Enah |
TGGCGGTGG |
TG |
1: 181,749,494 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| H2-T10 |
TTTCCCACTGTA |
T |
17: 36,431,186 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC |
GCCTGAGCTGTGGAAGTCTC |
1: 173,562,723 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,530,501 (GRCm39) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCACCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
G |
GGAGA |
6: 139,612,656 (GRCm39) |
|
probably null |
Het |
| Pou3f1 |
GGCGGCCG |
GGCGGCCGCGGCCG |
4: 124,551,598 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
| Slc12a1 |
ACAAACC |
ACAAACCTTTGGCCACCAAACC |
2: 124,996,130 (GRCm39) |
|
probably benign |
Het |
| Smpx |
CCCCCCA |
C |
X: 156,503,919 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
TCGC |
TCGCTCACGC |
4: 34,049,854 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,635,087 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,593,046 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
15: 78,851,236 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
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'- GGACTCTACCTAGTTTCAAACTTTGC -3'
(R):5'- CTGCTCTAGGACTTTTGTTTCAAAC -3'
Sequencing Primer
(F):5'- CAAACTTTGCTTCCCTGGGGTAG -3'
(R):5'- AATCTGGAGAAATAAAAATGGCTTTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation