Incidental Mutation 'RF053:A030005L19Rik'
| ID |
605175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A030005L19Rik
|
| Ensembl Gene |
ENSMUSG00000113880 |
| Gene Name |
RIKEN cDNA A030005L19 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
RF053 (G1)
|
| Quality Score |
132.981 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
82891046-82891851 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (3 aa in frame mutation) |
| DNA Base Change (assembly) |
TGGCTGCTG to TGGCTGCTGGGGCTGCTG
at 82891294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000220768]
|
| AlphaFold |
A0A1Y7VIU2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220768
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
TGGC |
T |
15: 41,729,695 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCCTCCTCCTC |
CTCCTCCTCCTCATCCTCCTCCTC |
7: 80,162,669 (GRCm39) |
|
probably benign |
Het |
| Bmp5 |
TGAGGAG |
T |
9: 75,683,656 (GRCm39) |
|
probably benign |
Het |
| Cngb1 |
GGCTCTGGCTCTGGCTCTGGCTCTG |
GG |
8: 96,030,276 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
GGATGTGACAGACACACTGCCCAG |
GGATGTGACAGACACACTGCCCAGCGATGTGACAGACACACTGCCCAG |
9: 86,922,475 (GRCm39) |
|
probably benign |
Het |
| Ehbp1l1 |
TCACACCACC |
T |
19: 5,766,030 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
TTTTT |
TTTTTT |
6: 71,609,033 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAGCCACCACAGC |
CAGCCACCACAGCCAAAGCCACCACAGC |
1: 83,019,999 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CA |
CAGAA |
X: 70,162,458 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,771 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,414 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTCACCT |
GACTTGGCCTCACCTCACCACTTGGCCTCACCT |
11: 4,891,014 (GRCm39) |
|
probably null |
Het |
| Polr1has |
CACCAC |
CACCACCACCACCACCACCTCTACCAC |
17: 37,275,958 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
TCATTTATTATGACCATAC |
TC |
3: 138,647,418 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
C |
CAGA |
18: 60,968,819 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,039 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCT |
TGCTGCTGCTGCTGCGGCT |
15: 72,673,177 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
CTCATGTGACCTGTTCTTCACTTAA |
9: 44,000,426 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,899,735 (GRCm39) |
|
probably benign |
Het |
| Zfp69 |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGATGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC |
4: 120,804,544 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in A030005L19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
RF001:A030005L19Rik
|
UTSW |
1 |
82,891,311 (GRCm39) |
small insertion |
probably benign |
|
|
RF005:A030005L19Rik
|
UTSW |
1 |
82,891,306 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:A030005L19Rik
|
UTSW |
1 |
82,891,307 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:A030005L19Rik
|
UTSW |
1 |
82,891,294 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:A030005L19Rik
|
UTSW |
1 |
82,891,290 (GRCm39) |
small insertion |
probably benign |
|
|
RF016:A030005L19Rik
|
UTSW |
1 |
82,891,298 (GRCm39) |
small insertion |
probably benign |
|
|
RF018:A030005L19Rik
|
UTSW |
1 |
82,891,293 (GRCm39) |
small insertion |
probably benign |
|
|
RF021:A030005L19Rik
|
UTSW |
1 |
82,891,290 (GRCm39) |
small insertion |
probably benign |
|
|
RF023:A030005L19Rik
|
UTSW |
1 |
82,891,117 (GRCm39) |
small deletion |
probably benign |
|
|
RF028:A030005L19Rik
|
UTSW |
1 |
82,891,301 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:A030005L19Rik
|
UTSW |
1 |
82,891,299 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:A030005L19Rik
|
UTSW |
1 |
82,891,301 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:A030005L19Rik
|
UTSW |
1 |
82,891,310 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:A030005L19Rik
|
UTSW |
1 |
82,891,301 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:A030005L19Rik
|
UTSW |
1 |
82,891,311 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:A030005L19Rik
|
UTSW |
1 |
82,891,298 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:A030005L19Rik
|
UTSW |
1 |
82,891,305 (GRCm39) |
small insertion |
probably benign |
|
|
RF044:A030005L19Rik
|
UTSW |
1 |
82,891,310 (GRCm39) |
small insertion |
probably benign |
|
|
RF059:A030005L19Rik
|
UTSW |
1 |
82,891,300 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:A030005L19Rik
|
UTSW |
1 |
82,891,308 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:A030005L19Rik
|
UTSW |
1 |
82,891,300 (GRCm39) |
nonsense |
probably null |
|
|
RF060:A030005L19Rik
|
UTSW |
1 |
82,891,117 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTCCTCTCTACTGACAACATGG -3'
(R):5'- AGTGTGGCCTCCATATCTCC -3'
Sequencing Primer
(F):5'- CAACATGGGTTGCTGTGGC -3'
(R):5'- AGAGCACCTGGTTCTACTAGCAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation