Incidental Mutation 'R6510:C130073F10Rik'
| ID |
519881 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C130073F10Rik
|
| Ensembl Gene |
ENSMUSG00000046133 |
| Gene Name |
RIKEN cDNA C130073F10 gene |
| Synonyms |
|
| MMRRC Submission |
044423-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R6510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
101747217-101750986 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101747482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 182
(E182D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051043]
|
| AlphaFold |
Q8C4L8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051043
AA Change: E182D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,770,645 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,707,609 (GRCm39) |
T1266A |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,527,743 (GRCm39) |
N1758S |
probably damaging |
Het |
| Ears2 |
T |
C |
7: 121,662,217 (GRCm39) |
D77G |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,036,861 (GRCm39) |
D108G |
probably damaging |
Het |
| Foxp4 |
A |
G |
17: 48,186,335 (GRCm39) |
F452S |
unknown |
Het |
| Gas2 |
T |
C |
7: 51,593,460 (GRCm39) |
L180P |
probably damaging |
Het |
| Gm28168 |
T |
C |
1: 117,875,685 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,845,131 (GRCm39) |
D217V |
probably damaging |
Het |
| Igsf9 |
C |
G |
1: 172,317,864 (GRCm39) |
Q74E |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 115,009,816 (GRCm39) |
F380I |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,962,629 (GRCm39) |
V128A |
possibly damaging |
Het |
| Mmp20 |
T |
A |
9: 7,643,967 (GRCm39) |
N218K |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,489,772 (GRCm39) |
K73* |
probably null |
Het |
| Or4c103 |
C |
T |
2: 88,513,302 (GRCm39) |
R258H |
probably benign |
Het |
| Pate2 |
T |
A |
9: 35,581,018 (GRCm39) |
C11S |
probably null |
Het |
| Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,159,875 (GRCm39) |
D297G |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,854,058 (GRCm39) |
L137Q |
probably benign |
Het |
| Treml4 |
A |
G |
17: 48,581,472 (GRCm39) |
D249G |
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,908,115 (GRCm39) |
C116R |
probably benign |
Het |
|
| Other mutations in C130073F10Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02805:C130073F10Rik
|
APN |
4 |
101,748,171 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02869:C130073F10Rik
|
APN |
4 |
101,747,590 (GRCm39) |
nonsense |
probably null |
|
|
R0621:C130073F10Rik
|
UTSW |
4 |
101,747,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1368:C130073F10Rik
|
UTSW |
4 |
101,747,953 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1471:C130073F10Rik
|
UTSW |
4 |
101,747,535 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:C130073F10Rik
|
UTSW |
4 |
101,747,907 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4733:C130073F10Rik
|
UTSW |
4 |
101,747,907 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5372:C130073F10Rik
|
UTSW |
4 |
101,747,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5777:C130073F10Rik
|
UTSW |
4 |
101,747,946 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6888:C130073F10Rik
|
UTSW |
4 |
101,747,453 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7229:C130073F10Rik
|
UTSW |
4 |
101,747,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8186:C130073F10Rik
|
UTSW |
4 |
101,748,031 (GRCm39) |
nonsense |
probably null |
|
|
R8353:C130073F10Rik
|
UTSW |
4 |
101,747,881 (GRCm39) |
splice site |
probably null |
|
|
R8857:C130073F10Rik
|
UTSW |
4 |
101,747,555 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9559:C130073F10Rik
|
UTSW |
4 |
101,747,946 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9590:C130073F10Rik
|
UTSW |
4 |
101,747,618 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGTTGGTGAAGGCAGTCTAC -3'
(R):5'- GGATCATCTCTGCACACCAC -3'
Sequencing Primer
(F):5'- AGTGACTTCTAAGCCAGCCTATG -3'
(R):5'- CAGCCCCAACGAGAGGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation