Incidental Mutation 'RF058:5430401F13Rik'
ID |
605327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
5430401F13Rik
|
Ensembl Gene |
ENSMUSG00000094113 |
Gene Name |
RIKEN cDNA 5430401F13 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
RF058 (G1)
|
Quality Score |
160.468 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
131520725-131530720 bp(+) (GRCm39) |
Type of Mutation |
small insertion (9 aa in frame mutation) |
DNA Base Change (assembly) |
AAGGAAAAGGTGGCCAG to AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG
at 131529850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075020]
[ENSMUST00000161385]
|
AlphaFold |
E9Q328 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075020
|
SMART Domains |
Protein: ENSMUSP00000074539 Gene: ENSMUSG00000094113
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
100 |
116 |
N/A |
INTRINSIC |
low complexity region
|
118 |
166 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161385
|
SMART Domains |
Protein: ENSMUSP00000125129 Gene: ENSMUSG00000094113
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
100 |
116 |
N/A |
INTRINSIC |
low complexity region
|
118 |
166 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110021N24Rik |
GAGCGCGGCC |
G |
4: 108,637,826 (GRCm39) |
|
probably benign |
Het |
Alg9 |
GGC |
GGCTGC |
9: 50,686,727 (GRCm39) |
|
probably benign |
Het |
Arid1b |
CGGGGG |
CGGGGGGGG |
17: 5,045,858 (GRCm39) |
|
probably benign |
Het |
Chd4 |
GC |
GCTCCCTC |
6: 125,099,094 (GRCm39) |
|
probably benign |
Het |
Chga |
CAG |
CAGAAG |
12: 102,527,675 (GRCm39) |
|
probably benign |
Het |
Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
GT |
GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT |
17: 23,981,151 (GRCm39) |
|
probably null |
Het |
Gab3 |
TCT |
TCTACT |
X: 74,043,608 (GRCm39) |
|
probably benign |
Het |
Gabre |
C |
CCGGCTG |
X: 71,313,669 (GRCm39) |
|
probably benign |
Het |
Haus4 |
CACTTAAAAAAAAAA |
CA |
14: 54,787,492 (GRCm39) |
|
probably benign |
Het |
Il2 |
AG |
AGGGCTTGAAGTGG |
3: 37,179,966 (GRCm39) |
|
probably benign |
Het |
Il2 |
CTTGAAGTGG |
CTTGAAGTGGGGATTGAAGTGG |
3: 37,179,970 (GRCm39) |
|
probably benign |
Het |
Kri1 |
TCCTCCTCC |
TC |
9: 21,192,362 (GRCm39) |
|
probably null |
Het |
Krtap28-10 |
ACAGCCACCACAGCCACAGCCACCACAGC |
ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC |
1: 83,019,983 (GRCm39) |
|
probably benign |
Het |
Mbd1 |
CGTCTTCGTCTGCATCTGCATCTGCA |
C |
18: 74,406,680 (GRCm39) |
|
probably null |
Het |
Nefh |
CCTC |
CCTCGCCTGGGGACTTGGACTC |
11: 4,891,021 (GRCm39) |
|
probably benign |
Het |
Rtbdn |
GCAGCG |
GCAGCGACAGCG |
8: 85,682,801 (GRCm39) |
|
probably benign |
Het |
Setd1a |
GTGGTGGT |
GTGGTGGTATTGGTGGT |
7: 127,384,490 (GRCm39) |
|
probably benign |
Het |
Treml1 |
ACCT |
A |
17: 48,666,975 (GRCm39) |
|
probably null |
Het |
Triobp |
CTCCCTGTGCCCAAC |
CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC |
15: 78,851,244 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,899,735 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 5430401F13Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02737:5430401F13Rik
|
APN |
6 |
131,529,555 (GRCm39) |
missense |
probably benign |
0.14 |
R0866:5430401F13Rik
|
UTSW |
6 |
131,529,742 (GRCm39) |
missense |
unknown |
|
R1674:5430401F13Rik
|
UTSW |
6 |
131,529,766 (GRCm39) |
missense |
unknown |
|
R6374:5430401F13Rik
|
UTSW |
6 |
131,529,892 (GRCm39) |
missense |
unknown |
|
R6671:5430401F13Rik
|
UTSW |
6 |
131,528,313 (GRCm39) |
critical splice donor site |
probably null |
|
R7150:5430401F13Rik
|
UTSW |
6 |
131,529,630 (GRCm39) |
missense |
probably benign |
0.16 |
RF005:5430401F13Rik
|
UTSW |
6 |
131,529,847 (GRCm39) |
small insertion |
probably benign |
|
RF014:5430401F13Rik
|
UTSW |
6 |
131,529,820 (GRCm39) |
small insertion |
probably benign |
|
RF015:5430401F13Rik
|
UTSW |
6 |
131,529,824 (GRCm39) |
small insertion |
probably benign |
|
RF015:5430401F13Rik
|
UTSW |
6 |
131,529,822 (GRCm39) |
small insertion |
probably benign |
|
RF015:5430401F13Rik
|
UTSW |
6 |
131,529,819 (GRCm39) |
small insertion |
probably benign |
|
RF023:5430401F13Rik
|
UTSW |
6 |
131,529,841 (GRCm39) |
small insertion |
probably benign |
|
RF023:5430401F13Rik
|
UTSW |
6 |
131,529,818 (GRCm39) |
small insertion |
probably benign |
|
RF029:5430401F13Rik
|
UTSW |
6 |
131,529,858 (GRCm39) |
small insertion |
probably benign |
|
RF037:5430401F13Rik
|
UTSW |
6 |
131,529,851 (GRCm39) |
small insertion |
probably benign |
|
RF037:5430401F13Rik
|
UTSW |
6 |
131,529,850 (GRCm39) |
small insertion |
probably benign |
|
RF041:5430401F13Rik
|
UTSW |
6 |
131,529,857 (GRCm39) |
small insertion |
probably benign |
|
RF041:5430401F13Rik
|
UTSW |
6 |
131,529,855 (GRCm39) |
small insertion |
probably benign |
|
RF041:5430401F13Rik
|
UTSW |
6 |
131,529,836 (GRCm39) |
small insertion |
probably benign |
|
RF042:5430401F13Rik
|
UTSW |
6 |
131,529,849 (GRCm39) |
small insertion |
probably benign |
|
RF058:5430401F13Rik
|
UTSW |
6 |
131,529,864 (GRCm39) |
small insertion |
probably benign |
|
RF063:5430401F13Rik
|
UTSW |
6 |
131,529,847 (GRCm39) |
small insertion |
probably benign |
|
RF063:5430401F13Rik
|
UTSW |
6 |
131,529,846 (GRCm39) |
small insertion |
probably benign |
|
X0062:5430401F13Rik
|
UTSW |
6 |
131,529,601 (GRCm39) |
missense |
probably benign |
0.29 |
Z1177:5430401F13Rik
|
UTSW |
6 |
131,529,684 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAATGGCCCACGTAGTAGAC -3'
(R):5'- ACTTGCTGCTGTGAGAAGGG -3'
Sequencing Primer
(F):5'- CTCTGATGATGACAACTTGGAAGTCC -3'
(R):5'- TTAAATGCTAGGTGGTGAGAATGGC -3'
|
Posted On |
2019-12-04 |