Incidental Mutation 'R6671:5430401F13Rik'
ID |
527136 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
5430401F13Rik
|
Ensembl Gene |
ENSMUSG00000094113 |
Gene Name |
RIKEN cDNA 5430401F13 gene |
Synonyms |
|
MMRRC Submission |
044791-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R6671 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
131520725-131530720 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 131528313 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 null
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
97% (32/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abce1 |
A |
G |
8: 80,415,806 (GRCm39) |
V404A |
probably benign |
Het |
Cpd |
T |
A |
11: 76,686,359 (GRCm39) |
I990F |
probably damaging |
Het |
Ddhd1 |
CA |
C |
14: 45,894,689 (GRCm39) |
|
probably null |
Het |
Dnajb6 |
A |
G |
5: 29,953,418 (GRCm39) |
E17G |
probably damaging |
Het |
Fastk |
T |
C |
5: 24,646,607 (GRCm39) |
D308G |
probably damaging |
Het |
Fkbp14 |
A |
G |
6: 54,556,662 (GRCm39) |
Y69H |
probably damaging |
Het |
Gldn |
T |
C |
9: 54,245,691 (GRCm39) |
L414P |
probably damaging |
Het |
Glmn |
T |
A |
5: 107,697,280 (GRCm39) |
M487L |
probably benign |
Het |
Gm3404 |
C |
A |
5: 146,464,487 (GRCm39) |
R163S |
probably benign |
Het |
Gm5591 |
T |
G |
7: 38,219,523 (GRCm39) |
D450A |
possibly damaging |
Het |
Gucy1b1 |
T |
C |
3: 81,941,715 (GRCm39) |
T575A |
probably benign |
Het |
Hydin |
T |
A |
8: 111,327,950 (GRCm39) |
V4819D |
probably damaging |
Het |
Ikbip |
A |
G |
10: 90,932,469 (GRCm39) |
|
probably null |
Het |
Mertk |
G |
T |
2: 128,593,943 (GRCm39) |
|
probably null |
Het |
Mfsd1 |
T |
C |
3: 67,492,995 (GRCm39) |
V93A |
possibly damaging |
Het |
Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
Myo3a |
A |
T |
2: 22,299,333 (GRCm39) |
N269Y |
probably damaging |
Het |
Nisch |
A |
T |
14: 30,926,420 (GRCm39) |
|
probably benign |
Het |
Otof |
A |
G |
5: 30,576,877 (GRCm39) |
V125A |
probably benign |
Het |
Pla2g4a |
A |
G |
1: 149,763,382 (GRCm39) |
I93T |
probably benign |
Het |
Prrc2c |
A |
G |
1: 162,525,154 (GRCm39) |
I484T |
probably damaging |
Het |
Qrich1 |
T |
A |
9: 108,410,985 (GRCm39) |
I170N |
probably benign |
Het |
Rb1 |
A |
T |
14: 73,434,706 (GRCm39) |
M904K |
probably damaging |
Het |
Rgs11 |
A |
T |
17: 26,427,272 (GRCm39) |
K399M |
probably damaging |
Het |
Tmprss13 |
C |
T |
9: 45,254,529 (GRCm39) |
T432M |
probably damaging |
Het |
Tpp1 |
C |
T |
7: 105,398,814 (GRCm39) |
R205H |
probably benign |
Het |
Vps53 |
A |
G |
11: 76,025,332 (GRCm39) |
Y171H |
probably damaging |
Het |
Zbtb8b |
C |
T |
4: 129,321,577 (GRCm39) |
R395Q |
probably damaging |
Het |
Zfp81 |
A |
T |
17: 33,554,413 (GRCm39) |
C134S |
probably benign |
Het |
Zranb1 |
A |
G |
7: 132,573,042 (GRCm39) |
D403G |
probably damaging |
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 |
|
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 |
131,529,847 (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'- GTAGGTTCAATCTATGACAGCAAAC -3'
(R):5'- TGTCACCACAAGGACAACTG -3'
Sequencing Primer
(F):5'- GTTCAATCTATGACAGCAAACAAAAC -3'
(R):5'- GCTGGACTCGAACTCAGAAATCTG -3'
|
Posted On |
2018-07-23 |