Incidental Mutation 'RF063:5430401F13Rik'
ID |
605461 |
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 # |
RF063 (G1)
|
Quality Score |
217.468 |
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) |
AGAAAGGAAAAGGTGGCCAG to AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG
at 131529847 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: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
T |
2: 25,337,409 (GRCm39) |
E2421D |
probably damaging |
Het |
Apc |
A |
AATAAAGCCC |
18: 34,415,062 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
TGGCTGTGGCTG |
TGGCTGTGGCTGCGGCTGTGGCTG |
19: 47,129,695 (GRCm39) |
|
probably benign |
Het |
Casz1 |
CACA |
C |
4: 149,036,761 (GRCm39) |
|
probably benign |
Het |
Dock4 |
GTGCCGGTGCCCGT |
G |
12: 40,894,398 (GRCm39) |
|
probably null |
Het |
F11r |
CCCCCCCCC |
CCCCCCCCCCC |
1: 171,288,758 (GRCm39) |
|
probably benign |
Het |
Fam171b |
C |
CAGCAGA |
2: 83,643,240 (GRCm39) |
|
probably benign |
Het |
Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTACGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
Fbrsl1 |
GTGCTGGTG |
GTGCTGGTGCGTCTGCTGGTG |
5: 110,526,009 (GRCm39) |
|
probably benign |
Het |
Iqcf4 |
TCCTTTT |
TCCTTTTCCTTTTCCTTGTCCTTTTCCTTTTCCTTTGCCTTTT |
9: 106,447,816 (GRCm39) |
|
probably benign |
Het |
Iqgap1 |
AGGCCACCACTGCTCACAGGTGCTGTACCT |
A |
7: 80,373,499 (GRCm39) |
|
probably null |
Het |
Kmt2c |
GCT |
GCTCCT |
5: 25,520,762 (GRCm39) |
|
probably benign |
Het |
Lrtm1 |
TAGCCTCAGTGGCC |
T |
14: 28,743,400 (GRCm39) |
|
probably null |
Het |
Med12l |
AACA |
AACAACA |
3: 59,183,379 (GRCm39) |
|
probably benign |
Het |
Med12l |
AGC |
AGCCGC |
3: 59,183,394 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
C |
CTGCCTCACTCATGGTCCTGTAGAGCAATGGGGATTA |
5: 90,756,801 (GRCm39) |
|
probably null |
Het |
Sh3pxd2b |
TGTGCC |
TGTGCCCGTGCC |
11: 32,373,051 (GRCm39) |
|
probably benign |
Het |
Sorcs2 |
ATACATACATACCT |
AT |
5: 36,311,155 (GRCm39) |
|
probably null |
Het |
Spmap2l |
CCAG |
CCAGCGATCCTCCCCAGTCCCGCAAGGTCAG |
5: 77,164,273 (GRCm39) |
|
probably benign |
Het |
Sry |
TGCTGCTGCTGCTGCTG |
T |
Y: 2,662,595 (GRCm39) |
|
probably null |
Het |
Stard8 |
GAG |
GAGTAG |
X: 98,110,130 (GRCm39) |
|
probably null |
Het |
Tcof1 |
GATCCCCTTGGC |
GATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGATATCCCCTTGGC |
18: 60,966,645 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
GCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCT |
15: 72,673,169 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
CTGCTGCT |
CTGCTGCTGCTGCTGTTGCTGCT |
15: 72,673,173 (GRCm39) |
|
probably benign |
Het |
Vmn1r74 |
CAGAGCCACCAAGTACCT |
C |
7: 11,581,067 (GRCm39) |
|
probably null |
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 |
|
RF058:5430401F13Rik
|
UTSW |
6 |
131,529,850 (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'- TAAGGAAGCCATCAAGTCCAAG -3'
(R):5'- TTTGCTCTGAGGGAATCACTG -3'
Sequencing Primer
(F):5'- CGAAGCTCTGATGATGACAACTTG -3'
(R):5'- CACTGGAGACCATCTTTAGTAGG -3'
|
Posted On |
2019-12-04 |