Incidental Mutation 'IGL00498:4933409G03Rik'
| ID |
7173 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4933409G03Rik
|
| Ensembl Gene |
ENSMUSG00000053896 |
| Gene Name |
RIKEN cDNA 4933409G03 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL00498
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
68412757-68446807 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 68432242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 128
(G128R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102713]
|
| AlphaFold |
Q8C5U0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000102713
AA Change: G128R
|
| SMART Domains |
Protein: ENSMUSP00000099774
Gene: ENSMUSG00000053896
AA Change: G128R
| 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: G109R
|
| SMART Domains |
Protein: ENSMUSP00000117165
Gene: ENSMUSG00000053896
AA Change: G109R
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
T |
C |
7: 119,141,661 (GRCm39) |
|
probably null |
Het |
| Atad2 |
A |
C |
15: 57,980,216 (GRCm39) |
F423V |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,739,352 (GRCm39) |
|
probably null |
Het |
| Cdc42bpa |
A |
C |
1: 179,933,686 (GRCm39) |
E775A |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,567,110 (GRCm39) |
E133G |
probably benign |
Het |
| Chst3 |
A |
G |
10: 60,021,441 (GRCm39) |
F469L |
possibly damaging |
Het |
| Dbx1 |
T |
C |
7: 49,286,222 (GRCm39) |
D81G |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,358,021 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,896,150 (GRCm39) |
T855A |
probably benign |
Het |
| Fbxw2 |
C |
T |
2: 34,695,953 (GRCm39) |
A250T |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,791,222 (GRCm39) |
C828R |
probably damaging |
Het |
| Gmfg |
G |
T |
7: 28,145,810 (GRCm39) |
R83L |
possibly damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,089,440 (GRCm39) |
|
probably benign |
Het |
| Hcfc1r1 |
G |
A |
17: 23,892,982 (GRCm39) |
R9Q |
probably damaging |
Het |
| Hsd17b1 |
A |
T |
11: 100,970,884 (GRCm39) |
H280L |
possibly damaging |
Het |
| Hsd17b12 |
A |
C |
2: 93,913,510 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
G |
13: 115,167,729 (GRCm39) |
V99A |
probably benign |
Het |
| Kcnn1 |
A |
G |
8: 71,305,524 (GRCm39) |
S229P |
probably damaging |
Het |
| Klhdc8a |
A |
G |
1: 132,230,756 (GRCm39) |
N207S |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,999,529 (GRCm39) |
W314R |
probably damaging |
Het |
| Malrd1 |
T |
C |
2: 16,146,997 (GRCm39) |
|
probably benign |
Het |
| Marcks |
T |
C |
10: 37,014,513 (GRCm39) |
K7E |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,708,263 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,753 (GRCm39) |
T1018S |
unknown |
Het |
| Sdk1 |
T |
C |
5: 142,071,361 (GRCm39) |
Y1184H |
probably damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,819,838 (GRCm39) |
M244K |
possibly damaging |
Het |
| Snx19 |
C |
T |
9: 30,340,233 (GRCm39) |
T457I |
possibly damaging |
Het |
| Stard3 |
T |
A |
11: 98,267,356 (GRCm39) |
V158D |
possibly damaging |
Het |
| Tnks |
G |
T |
8: 35,328,843 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,049,084 (GRCm39) |
S314P |
probably damaging |
Het |
| Usp15 |
G |
A |
10: 122,949,501 (GRCm39) |
S952L |
probably benign |
Het |
| Utp11 |
A |
G |
4: 124,573,532 (GRCm39) |
V214A |
possibly damaging |
Het |
|
| Other mutations in 4933409G03Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation