Incidental Mutation 'R8083:6820408C15Rik'
| ID |
629454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
6820408C15Rik
|
| Ensembl Gene |
ENSMUSG00000032680 |
| Gene Name |
RIKEN cDNA 6820408C15 gene |
| Synonyms |
|
| MMRRC Submission |
067516-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R8083 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152257507-152286250 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152282987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 255
(E255G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039961]
[ENSMUST00000128737]
[ENSMUST00000153713]
|
| AlphaFold |
Q8BJX2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039961
AA Change: E255G
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037024
Gene: ENSMUSG00000032680
AA Change: E255G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4618
|
96 |
353 |
4.1e-105 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128737
|
| SMART Domains |
Protein: ENSMUSP00000117627
Gene: ENSMUSG00000032680
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4618
|
97 |
158 |
1.4e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153713
|
| SMART Domains |
Protein: ENSMUSP00000120724
Gene: ENSMUSG00000032680
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.5%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,965,971 (GRCm39) |
L635Q |
probably damaging |
Het |
| Acsl3 |
G |
A |
1: 78,669,844 (GRCm39) |
D238N |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,752 (GRCm39) |
C558S |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,711 (GRCm39) |
V126M |
possibly damaging |
Het |
| Apobec1 |
G |
A |
6: 122,555,888 (GRCm39) |
P190S |
probably damaging |
Het |
| Arel1 |
A |
T |
12: 84,987,136 (GRCm39) |
H93Q |
probably benign |
Het |
| Bpifa2 |
T |
G |
2: 153,852,412 (GRCm39) |
V96G |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,023,529 (GRCm39) |
V923I |
possibly damaging |
Het |
| Caprin2 |
A |
C |
6: 148,744,346 (GRCm39) |
Y1026* |
probably null |
Het |
| Cdk8 |
T |
G |
5: 146,205,100 (GRCm39) |
W34G |
probably damaging |
Het |
| Cdkn3 |
A |
T |
14: 47,000,058 (GRCm39) |
Q28L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,971,957 (GRCm39) |
E629G |
probably damaging |
Het |
| Chaf1b |
T |
A |
16: 93,691,630 (GRCm39) |
C255S |
probably damaging |
Het |
| Clcn4 |
A |
G |
7: 7,294,427 (GRCm39) |
F445L |
possibly damaging |
Het |
| Cpne6 |
A |
C |
14: 55,750,698 (GRCm39) |
I140L |
probably benign |
Het |
| Cyp2b23 |
C |
A |
7: 26,385,828 (GRCm39) |
A10S |
possibly damaging |
Het |
| Eci3 |
G |
T |
13: 35,140,873 (GRCm39) |
T103K |
probably benign |
Het |
| Eri3 |
T |
A |
4: 117,450,359 (GRCm39) |
M253K |
probably damaging |
Het |
| Gm21103 |
C |
T |
14: 17,482,895 (GRCm39) |
V169M |
possibly damaging |
Het |
| Gm6594 |
G |
A |
17: 82,846,897 (GRCm39) |
A71T |
probably benign |
Het |
| Gns |
T |
C |
10: 121,214,008 (GRCm39) |
S228P |
probably damaging |
Het |
| Hbegf |
A |
T |
18: 36,648,224 (GRCm39) |
S46T |
probably benign |
Het |
| Hcn1 |
GCAACAACA |
GCAACAACAACA |
13: 118,112,296 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
A |
8: 13,057,875 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,524,320 (GRCm39) |
D846G |
probably benign |
Het |
| Nt5dc2 |
A |
G |
14: 30,856,783 (GRCm39) |
Y103C |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,943,572 (GRCm39) |
V147M |
possibly damaging |
Het |
| Pid1 |
T |
C |
1: 84,015,970 (GRCm39) |
I146V |
probably benign |
Het |
| Rangap1 |
A |
G |
15: 81,603,101 (GRCm39) |
I108T |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,409 (GRCm39) |
Y794H |
probably damaging |
Het |
| Rprd1b |
T |
C |
2: 157,892,052 (GRCm39) |
S192P |
probably damaging |
Het |
| Sacs |
A |
T |
14: 61,448,166 (GRCm39) |
D3404V |
possibly damaging |
Het |
| Setd5 |
G |
T |
6: 113,091,971 (GRCm39) |
G264V |
probably damaging |
Het |
| Tagln2 |
A |
T |
1: 172,332,766 (GRCm39) |
I18F |
possibly damaging |
Het |
| Tex51 |
T |
C |
18: 32,591,807 (GRCm39) |
|
probably null |
Het |
| Ttc17 |
C |
A |
2: 94,204,909 (GRCm39) |
V338F |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,339,043 (GRCm39) |
M428K |
possibly damaging |
Het |
| Zfp503 |
A |
T |
14: 22,036,132 (GRCm39) |
D261E |
probably damaging |
Het |
| Zfp784 |
T |
C |
7: 5,038,905 (GRCm39) |
T218A |
possibly damaging |
Het |
| Zp3 |
A |
C |
5: 136,013,376 (GRCm39) |
D236A |
probably damaging |
Het |
|
| Other mutations in 6820408C15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:6820408C15Rik
|
APN |
2 |
152,284,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01986:6820408C15Rik
|
APN |
2 |
152,282,956 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02153:6820408C15Rik
|
APN |
2 |
152,283,161 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02178:6820408C15Rik
|
APN |
2 |
152,269,921 (GRCm39) |
splice site |
probably benign |
|
|
IGL03339:6820408C15Rik
|
APN |
2 |
152,284,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0468:6820408C15Rik
|
UTSW |
2 |
152,283,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1624:6820408C15Rik
|
UTSW |
2 |
152,276,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1642:6820408C15Rik
|
UTSW |
2 |
152,282,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:6820408C15Rik
|
UTSW |
2 |
152,270,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3109:6820408C15Rik
|
UTSW |
2 |
152,284,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:6820408C15Rik
|
UTSW |
2 |
152,282,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:6820408C15Rik
|
UTSW |
2 |
152,282,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:6820408C15Rik
|
UTSW |
2 |
152,276,000 (GRCm39) |
missense |
probably benign |
|
|
R4237:6820408C15Rik
|
UTSW |
2 |
152,270,873 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4746:6820408C15Rik
|
UTSW |
2 |
152,282,685 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4957:6820408C15Rik
|
UTSW |
2 |
152,286,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:6820408C15Rik
|
UTSW |
2 |
152,282,808 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4973:6820408C15Rik
|
UTSW |
2 |
152,282,808 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5261:6820408C15Rik
|
UTSW |
2 |
152,282,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:6820408C15Rik
|
UTSW |
2 |
152,282,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5971:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6138:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:6820408C15Rik
|
UTSW |
2 |
152,269,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6379:6820408C15Rik
|
UTSW |
2 |
152,269,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6642:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:6820408C15Rik
|
UTSW |
2 |
152,282,975 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8367:6820408C15Rik
|
UTSW |
2 |
152,284,417 (GRCm39) |
splice site |
probably null |
|
|
R8534:6820408C15Rik
|
UTSW |
2 |
152,283,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9567:6820408C15Rik
|
UTSW |
2 |
152,270,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U15987:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTATCCCGTCAAGTTGGTTCAG -3'
(R):5'- CAGCAGCAGTATGTTCTCATGG -3'
Sequencing Primer
(F):5'- CAAGTTGGTTCAGATCGCCAG -3'
(R):5'- CAGCAGTATGTTCTCATGGGGTTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation