Incidental Mutation 'R4124:4933409G03Rik'
| ID |
315306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4933409G03Rik
|
| Ensembl Gene |
ENSMUSG00000053896 |
| Gene Name |
RIKEN cDNA 4933409G03 gene |
| Synonyms |
|
| MMRRC Submission |
041632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
68412757-68446807 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 68446568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102713]
|
| AlphaFold |
Q8C5U0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000102713
AA Change: S282R
|
| SMART Domains |
Protein: ENSMUSP00000099774
Gene: ENSMUSG00000053896
AA Change: S282R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137117
|
| SMART Domains |
Protein: ENSMUSP00000117165
Gene: ENSMUSG00000053896
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
188 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,643,345 (GRCm39) |
M338K |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
| Aldh7a1 |
A |
T |
18: 56,670,395 (GRCm39) |
|
probably benign |
Het |
| Ank |
T |
C |
15: 27,571,709 (GRCm39) |
F327S |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,256,471 (GRCm39) |
|
probably null |
Het |
| Cd6 |
G |
T |
19: 10,767,972 (GRCm39) |
P630T |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,038,513 (GRCm39) |
V978M |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,370,689 (GRCm39) |
D864G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,167,902 (GRCm39) |
R1062G |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 63,002,755 (GRCm39) |
E99G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Gpx6 |
C |
T |
13: 21,501,815 (GRCm39) |
Q146* |
probably null |
Het |
| Grid2 |
A |
T |
6: 63,480,417 (GRCm39) |
Q77L |
probably benign |
Het |
| Hrh1 |
T |
C |
6: 114,457,580 (GRCm39) |
V287A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,210,106 (GRCm39) |
D43E |
probably benign |
Het |
| Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
| Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,275,520 (GRCm39) |
S562G |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,389,781 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slamf9 |
T |
C |
1: 172,303,808 (GRCm39) |
I51T |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,950,238 (GRCm39) |
I111M |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Vmn1r215 |
A |
T |
13: 23,260,163 (GRCm39) |
T68S |
probably benign |
Het |
| Ypel2 |
A |
G |
11: 86,836,753 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in 4933409G03Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:4933409G03Rik
|
APN |
2 |
68,432,242 (GRCm39) |
missense |
unknown |
|
|
IGL00514:4933409G03Rik
|
APN |
2 |
68,432,141 (GRCm39) |
missense |
unknown |
|
|
IGL02173:4933409G03Rik
|
APN |
2 |
68,443,401 (GRCm39) |
missense |
unknown |
|
|
IGL02252:4933409G03Rik
|
APN |
2 |
68,444,678 (GRCm39) |
splice site |
probably benign |
|
|
PIT4812001:4933409G03Rik
|
UTSW |
2 |
68,419,292 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0196:4933409G03Rik
|
UTSW |
2 |
68,446,591 (GRCm39) |
unclassified |
probably benign |
|
|
R1939:4933409G03Rik
|
UTSW |
2 |
68,419,328 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2422:4933409G03Rik
|
UTSW |
2 |
68,421,864 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3435:4933409G03Rik
|
UTSW |
2 |
68,432,189 (GRCm39) |
missense |
unknown |
|
|
R4243:4933409G03Rik
|
UTSW |
2 |
68,423,887 (GRCm39) |
intron |
probably benign |
|
|
R4424:4933409G03Rik
|
UTSW |
2 |
68,445,491 (GRCm39) |
unclassified |
probably benign |
|
|
R4649:4933409G03Rik
|
UTSW |
2 |
68,436,559 (GRCm39) |
missense |
unknown |
|
|
R4650:4933409G03Rik
|
UTSW |
2 |
68,436,559 (GRCm39) |
missense |
unknown |
|
|
R4651:4933409G03Rik
|
UTSW |
2 |
68,436,559 (GRCm39) |
missense |
unknown |
|
|
R4652:4933409G03Rik
|
UTSW |
2 |
68,436,559 (GRCm39) |
missense |
unknown |
|
|
R4653:4933409G03Rik
|
UTSW |
2 |
68,436,559 (GRCm39) |
missense |
unknown |
|
|
R4732:4933409G03Rik
|
UTSW |
2 |
68,445,065 (GRCm39) |
unclassified |
probably benign |
|
|
R4733:4933409G03Rik
|
UTSW |
2 |
68,445,065 (GRCm39) |
unclassified |
probably benign |
|
|
R5144:4933409G03Rik
|
UTSW |
2 |
68,446,604 (GRCm39) |
unclassified |
probably benign |
|
|
R5499:4933409G03Rik
|
UTSW |
2 |
68,432,137 (GRCm39) |
missense |
unknown |
|
|
R5828:4933409G03Rik
|
UTSW |
2 |
68,432,144 (GRCm39) |
missense |
unknown |
|
|
R5936:4933409G03Rik
|
UTSW |
2 |
68,445,848 (GRCm39) |
unclassified |
probably benign |
|
|
R6323:4933409G03Rik
|
UTSW |
2 |
68,436,568 (GRCm39) |
missense |
unknown |
|
|
R7491:4933409G03Rik
|
UTSW |
2 |
68,445,099 (GRCm39) |
splice site |
probably null |
|
|
R8769:4933409G03Rik
|
UTSW |
2 |
68,446,589 (GRCm39) |
missense |
unknown |
|
|
R9262:4933409G03Rik
|
UTSW |
2 |
68,443,375 (GRCm39) |
missense |
unknown |
|
|
R9354:4933409G03Rik
|
UTSW |
2 |
68,436,873 (GRCm39) |
missense |
unknown |
|
|
R9467:4933409G03Rik
|
UTSW |
2 |
68,423,934 (GRCm39) |
missense |
|
|
|
R9511:4933409G03Rik
|
UTSW |
2 |
68,445,848 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGATTGTGCCTATAACTTGA -3'
(R):5'- ATATTTAAAAGAAGTGATGCTGGGAA -3'
Sequencing Primer
(F):5'- GGATTGTGCCTATAACTTGAAAGAC -3'
(R):5'- GGGAACATGCACACTGT -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation