Incidental Mutation 'R4300:4930503B20Rik'
ID |
322366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930503B20Rik
|
Ensembl Gene |
ENSMUSG00000090202 |
Gene Name |
RIKEN cDNA 4930503B20 gene |
Synonyms |
|
MMRRC Submission |
041657-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R4300 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
146350948-146357072 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 146356675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 78
(R78*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114745
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049703]
[ENSMUST00000124931]
[ENSMUST00000125965]
[ENSMUST00000147113]
[ENSMUST00000149825]
[ENSMUST00000197989]
|
AlphaFold |
Q80ZP0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000049703
AA Change: R78*
|
SMART Domains |
Protein: ENSMUSP00000051453 Gene: ENSMUSG00000090202 AA Change: R78*
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
1.21e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124931
|
SMART Domains |
Protein: ENSMUSP00000118464 Gene: ENSMUSG00000048652
Domain | Start | End | E-Value | Type |
SAM
|
28 |
94 |
3.66e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125965
|
SMART Domains |
Protein: ENSMUSP00000119608 Gene: ENSMUSG00000048652
Domain | Start | End | E-Value | Type |
SAM
|
28 |
94 |
3.66e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126930
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141199
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147113
|
SMART Domains |
Protein: ENSMUSP00000118934 Gene: ENSMUSG00000048652
Domain | Start | End | E-Value | Type |
SAM
|
28 |
94 |
3.66e-2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000149825
AA Change: R78*
|
SMART Domains |
Protein: ENSMUSP00000114745 Gene: ENSMUSG00000090202 AA Change: R78*
Domain | Start | End | E-Value | Type |
DnaJ
|
2 |
61 |
1.21e-30 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154128
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197989
|
SMART Domains |
Protein: ENSMUSP00000143496 Gene: ENSMUSG00000048652
Domain | Start | End | E-Value | Type |
SAM
|
9 |
75 |
2.2e-4 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
G |
A |
6: 121,650,434 (GRCm39) |
V1181I |
probably benign |
Het |
Cacna1b |
T |
C |
2: 24,525,251 (GRCm39) |
S1639G |
probably damaging |
Het |
Ccs |
T |
C |
19: 4,884,285 (GRCm39) |
T56A |
probably benign |
Het |
Cd177 |
T |
C |
7: 24,449,845 (GRCm39) |
I547V |
possibly damaging |
Het |
Ckmt2 |
C |
A |
13: 92,011,457 (GRCm39) |
|
probably null |
Het |
Cyth1 |
A |
G |
11: 118,074,720 (GRCm39) |
F180L |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,660,747 (GRCm39) |
I840M |
probably damaging |
Het |
Gm37150 |
G |
A |
9: 72,292,758 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
A |
G |
9: 66,396,688 (GRCm39) |
D4255G |
probably damaging |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnn4 |
G |
T |
7: 24,077,029 (GRCm39) |
V193L |
probably benign |
Het |
Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
Mboat2 |
A |
G |
12: 25,009,082 (GRCm39) |
N463D |
probably benign |
Het |
Mtfr1 |
T |
A |
3: 19,269,621 (GRCm39) |
|
probably null |
Het |
Or10g6 |
A |
C |
9: 39,934,435 (GRCm39) |
I249L |
probably benign |
Het |
Or5h24 |
T |
C |
16: 58,918,641 (GRCm39) |
Y238C |
unknown |
Het |
Pcnt |
G |
C |
10: 76,203,225 (GRCm39) |
R2626G |
probably benign |
Het |
Pik3cg |
A |
G |
12: 32,226,671 (GRCm39) |
I1072T |
probably damaging |
Het |
Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
Psph |
G |
T |
5: 129,864,529 (GRCm39) |
|
probably null |
Het |
Rfx4 |
T |
C |
10: 84,740,966 (GRCm39) |
Y601H |
probably damaging |
Het |
Rmc1 |
A |
G |
18: 12,321,919 (GRCm39) |
N513D |
probably benign |
Het |
Setd5 |
T |
G |
6: 113,127,123 (GRCm39) |
V1249G |
probably damaging |
Het |
Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Spata31 |
A |
T |
13: 65,067,575 (GRCm39) |
H79L |
probably benign |
Het |
Srbd1 |
C |
A |
17: 86,292,632 (GRCm39) |
R979L |
probably damaging |
Het |
Stox2 |
A |
T |
8: 47,647,027 (GRCm39) |
Y208* |
probably null |
Het |
Sun1 |
A |
T |
5: 139,213,349 (GRCm39) |
|
probably benign |
Het |
Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tubgcp3 |
G |
T |
8: 12,707,600 (GRCm39) |
P130T |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,703,673 (GRCm39) |
E277G |
probably damaging |
Het |
|
Other mutations in 4930503B20Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0211:4930503B20Rik
|
UTSW |
3 |
146,356,251 (GRCm39) |
missense |
probably benign |
|
R1131:4930503B20Rik
|
UTSW |
3 |
146,356,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R1523:4930503B20Rik
|
UTSW |
3 |
146,356,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R2281:4930503B20Rik
|
UTSW |
3 |
146,352,179 (GRCm39) |
missense |
probably damaging |
0.99 |
R2520:4930503B20Rik
|
UTSW |
3 |
146,356,261 (GRCm39) |
missense |
probably damaging |
0.99 |
R3896:4930503B20Rik
|
UTSW |
3 |
146,356,868 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5196:4930503B20Rik
|
UTSW |
3 |
146,352,018 (GRCm39) |
utr 3 prime |
probably benign |
|
R5394:4930503B20Rik
|
UTSW |
3 |
146,356,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R5394:4930503B20Rik
|
UTSW |
3 |
146,356,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R5645:4930503B20Rik
|
UTSW |
3 |
146,356,264 (GRCm39) |
missense |
probably damaging |
0.98 |
R5894:4930503B20Rik
|
UTSW |
3 |
146,356,680 (GRCm39) |
missense |
probably benign |
0.40 |
R6574:4930503B20Rik
|
UTSW |
3 |
146,356,613 (GRCm39) |
missense |
probably benign |
0.02 |
R6830:4930503B20Rik
|
UTSW |
3 |
146,356,716 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7604:4930503B20Rik
|
UTSW |
3 |
146,356,415 (GRCm39) |
nonsense |
probably null |
|
R9771:4930503B20Rik
|
UTSW |
3 |
146,356,743 (GRCm39) |
missense |
possibly damaging |
0.73 |
Z1176:4930503B20Rik
|
UTSW |
3 |
146,356,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTCTTCTGGACCCAGTAATG -3'
(R):5'- CAAAGTACTAGGGGTGCCAC -3'
Sequencing Primer
(F):5'- TGGGACCTGAGAACAAACAGTCTC -3'
(R):5'- TGCGTCGTCCTCAGATATCAAGAG -3'
|
Posted On |
2015-06-20 |