Incidental Mutation 'IGL03287:4930519G04Rik'
| ID |
415757 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4930519G04Rik
|
| Ensembl Gene |
ENSMUSG00000029564 |
| Gene Name |
RIKEN cDNA 4930519G04 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL03287
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114991725-115021941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115008237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 17
(D17V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144618
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031547]
[ENSMUST00000134389]
|
| AlphaFold |
Q9CPT7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031547
AA Change: D43V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031547
Gene: ENSMUSG00000029564
AA Change: D43V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112153
|
| SMART Domains |
Protein: ENSMUSP00000107780
Gene: ENSMUSG00000029564
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119930
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134389
AA Change: D17V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144618
Gene: ENSMUSG00000029564
AA Change: D17V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
85 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142582
AA Change: D24V
|
| SMART Domains |
Protein: ENSMUSP00000116852
Gene: ENSMUSG00000029564
AA Change: D24V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
69 |
92 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh5 |
T |
A |
8: 104,854,747 (GRCm39) |
V225E |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,826,802 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
A |
G |
5: 30,645,887 (GRCm39) |
L127P |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,210,476 (GRCm39) |
H140R |
probably damaging |
Het |
| Grm8 |
A |
G |
6: 27,760,254 (GRCm39) |
F359L |
possibly damaging |
Het |
| Kat7 |
A |
T |
11: 95,190,935 (GRCm39) |
D150E |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,299,438 (GRCm39) |
I944T |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,330,218 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,639,982 (GRCm39) |
S1142G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,027,335 (GRCm39) |
Y6889H |
probably damaging |
Het |
| Or10ak13 |
A |
G |
4: 118,639,551 (GRCm39) |
V77A |
possibly damaging |
Het |
| Or1e16 |
A |
T |
11: 73,286,845 (GRCm39) |
M1K |
probably null |
Het |
| Plk4 |
A |
T |
3: 40,759,553 (GRCm39) |
I150L |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,318,844 (GRCm39) |
D1598G |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,963,830 (GRCm39) |
K925E |
probably damaging |
Het |
| Slc25a29 |
A |
T |
12: 108,797,135 (GRCm39) |
F22L |
possibly damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,395,312 (GRCm39) |
T80A |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,855,817 (GRCm39) |
V121A |
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,630 (GRCm39) |
D545E |
possibly damaging |
Het |
| Zdhhc8 |
T |
C |
16: 18,042,964 (GRCm39) |
Y412C |
probably benign |
Het |
| Zmynd12 |
A |
G |
4: 119,310,776 (GRCm39) |
E328G |
probably damaging |
Het |
|
| Other mutations in 4930519G04Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02019:4930519G04Rik
|
APN |
5 |
115,017,645 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0512:4930519G04Rik
|
UTSW |
5 |
115,001,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1537:4930519G04Rik
|
UTSW |
5 |
115,008,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1563:4930519G04Rik
|
UTSW |
5 |
115,001,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2069:4930519G04Rik
|
UTSW |
5 |
115,012,341 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4718:4930519G04Rik
|
UTSW |
5 |
115,001,615 (GRCm39) |
splice site |
probably null |
|
|
R4744:4930519G04Rik
|
UTSW |
5 |
115,017,617 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5528:4930519G04Rik
|
UTSW |
5 |
115,012,415 (GRCm39) |
splice site |
probably null |
|
|
R5684:4930519G04Rik
|
UTSW |
5 |
115,017,621 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7489:4930519G04Rik
|
UTSW |
5 |
115,017,686 (GRCm39) |
missense |
unknown |
|
|
R7548:4930519G04Rik
|
UTSW |
5 |
115,016,059 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7665:4930519G04Rik
|
UTSW |
5 |
115,012,384 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation