Incidental Mutation 'R0664:B020004C17Rik'
| ID |
61954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
B020004C17Rik
|
| Ensembl Gene |
ENSMUSG00000096144 |
| Gene Name |
RIKEN cDNA B020004C17 gene |
| Synonyms |
|
| MMRRC Submission |
038849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R0664 (G1)
|
| Quality Score |
158 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
57252591-57256439 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57254225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 116
(R116H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178161]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178161
AA Change: R116H
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137042
Gene: ENSMUSG00000096144
AA Change: R116H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225045
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| A530064D06Rik |
T |
C |
17: 48,473,759 (GRCm39) |
I53V |
probably benign |
Het |
| Abtb3 |
G |
A |
10: 85,224,234 (GRCm39) |
A348T |
possibly damaging |
Het |
| Agmo |
A |
T |
12: 37,302,571 (GRCm39) |
H136L |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,544,458 (GRCm39) |
S1243P |
probably damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,485 (GRCm39) |
V548M |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,364,002 (GRCm39) |
M3541L |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,819,365 (GRCm39) |
L138P |
possibly damaging |
Het |
| Epcam |
T |
A |
17: 87,947,398 (GRCm39) |
Y51N |
possibly damaging |
Het |
| Gpr55 |
A |
T |
1: 85,868,739 (GRCm39) |
S281T |
probably benign |
Het |
| Grid2ip |
T |
A |
5: 143,349,732 (GRCm39) |
|
probably null |
Het |
| Hgfac |
G |
T |
5: 35,205,522 (GRCm39) |
V601F |
probably benign |
Het |
| Hlcs |
A |
G |
16: 94,032,170 (GRCm39) |
W545R |
probably damaging |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,440 (GRCm39) |
V301A |
possibly damaging |
Het |
| Ipo8 |
A |
T |
6: 148,701,711 (GRCm39) |
L466I |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,676,063 (GRCm39) |
D1275G |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,768,011 (GRCm39) |
E5315* |
probably null |
Het |
| Nfam1 |
T |
C |
15: 82,899,139 (GRCm39) |
T176A |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,204,267 (GRCm39) |
F432S |
probably damaging |
Het |
| Or4c31 |
C |
T |
2: 88,292,515 (GRCm39) |
P296L |
probably damaging |
Het |
| Prmt5 |
G |
T |
14: 54,745,313 (GRCm39) |
T618K |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Serpinb7 |
A |
G |
1: 107,356,037 (GRCm39) |
D20G |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,467 (GRCm39) |
I515V |
probably benign |
Het |
| Stk26 |
T |
A |
X: 49,976,803 (GRCm39) |
Y283* |
probably null |
Het |
| Tanc1 |
A |
T |
2: 59,674,228 (GRCm39) |
K1778* |
probably null |
Het |
| Thada |
A |
G |
17: 84,644,257 (GRCm39) |
L1288P |
probably damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,579,302 (GRCm39) |
V607F |
probably damaging |
Het |
|
| Other mutations in B020004C17Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02063:B020004C17Rik
|
APN |
14 |
57,253,480 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03396:B020004C17Rik
|
APN |
14 |
57,253,993 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3977:B020004C17Rik
|
UTSW |
14 |
57,254,645 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3978:B020004C17Rik
|
UTSW |
14 |
57,254,645 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3979:B020004C17Rik
|
UTSW |
14 |
57,254,645 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4415:B020004C17Rik
|
UTSW |
14 |
57,254,874 (GRCm39) |
makesense |
probably null |
|
|
R5290:B020004C17Rik
|
UTSW |
14 |
57,254,036 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5479:B020004C17Rik
|
UTSW |
14 |
57,253,999 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5651:B020004C17Rik
|
UTSW |
14 |
57,252,689 (GRCm39) |
start gained |
probably benign |
|
|
R5655:B020004C17Rik
|
UTSW |
14 |
57,252,689 (GRCm39) |
start gained |
probably benign |
|
|
R5736:B020004C17Rik
|
UTSW |
14 |
57,254,823 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7368:B020004C17Rik
|
UTSW |
14 |
57,254,773 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7759:B020004C17Rik
|
UTSW |
14 |
57,254,242 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9299:B020004C17Rik
|
UTSW |
14 |
57,254,230 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9410:B020004C17Rik
|
UTSW |
14 |
57,254,273 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:B020004C17Rik
|
UTSW |
14 |
57,252,717 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCGTGGACTGAGTCTGAAATC -3'
(R):5'- GCCAGAATTTGTGCTGTGTGCAAC -3'
Sequencing Primer
(F):5'- GGCAGTGGTTGAATATGAACTC -3'
(R):5'- TGTGTGCAACAACACAGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation