Incidental Mutation 'R3435:4933409G03Rik'
| ID |
267144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4933409G03Rik
|
| Ensembl Gene |
ENSMUSG00000053896 |
| Gene Name |
RIKEN cDNA 4933409G03 gene |
| Synonyms |
|
| MMRRC Submission |
040653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R3435 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
68412757-68446807 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 68432189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 91
(D91A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102713]
|
| AlphaFold |
Q8C5U0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000102713
AA Change: D110A
|
| SMART Domains |
Protein: ENSMUSP00000099774
Gene: ENSMUSG00000053896
AA Change: D110A
| 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 |
unknown
Transcript: ENSMUST00000137117
AA Change: D91A
|
| SMART Domains |
Protein: ENSMUSP00000117165
Gene: ENSMUSG00000053896
AA Change: D91A
| 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 |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,045,256 (GRCm39) |
E359G |
probably benign |
Het |
| Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,038,631 (GRCm39) |
D150G |
probably damaging |
Het |
| Fam47e |
T |
A |
5: 92,733,221 (GRCm39) |
V152D |
probably damaging |
Het |
| Gm19965 |
C |
A |
1: 116,749,353 (GRCm39) |
H345N |
possibly damaging |
Het |
| Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,001,911 (GRCm39) |
I384V |
probably benign |
Het |
| Lrrc57 |
T |
A |
2: 120,439,862 (GRCm39) |
|
probably benign |
Het |
| Mafk |
C |
T |
5: 139,786,062 (GRCm39) |
Q87* |
probably null |
Het |
| Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
| Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,245,964 (GRCm39) |
V532A |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,637 (GRCm39) |
R293G |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,690 (GRCm39) |
Q138L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,050 (GRCm39) |
N149K |
possibly damaging |
Het |
| P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,354,543 (GRCm39) |
L354P |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,178,772 (GRCm39) |
M889L |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,874,174 (GRCm39) |
Q52L |
possibly damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,294 (GRCm39) |
E320G |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,644 (GRCm39) |
L937Q |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,571,558 (GRCm39) |
S563P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,298,565 (GRCm39) |
D1114G |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,546,028 (GRCm39) |
V203E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,709,062 (GRCm39) |
|
probably benign |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
probably benign |
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 |
|
R4124:4933409G03Rik
|
UTSW |
2 |
68,446,568 (GRCm39) |
unclassified |
probably benign |
|
|
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'- AGCCTGTCAGATGGTAAGGC -3'
(R):5'- AGAAGATTACTTGAAGGTGTTTGC -3'
Sequencing Primer
(F):5'- AAGGCTTAAGGTTACTGTGCATTCC -3'
(R):5'- CATTTGGCTGGTGCTACACTAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation