Incidental Mutation 'IGL01518:4933427I04Rik'
| ID |
89387 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4933427I04Rik
|
| Ensembl Gene |
ENSMUSG00000073761 |
| Gene Name |
Riken cDNA 4933427I04 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01518
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
123753472-123756958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123754494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 136
(E136V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097896]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097896
AA Change: E136V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137546
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447F04Rik |
A |
C |
X: 65,347,660 (GRCm39) |
V16G |
unknown |
Het |
| Aadac |
A |
G |
3: 59,943,320 (GRCm39) |
D75G |
probably damaging |
Het |
| Arfgap1 |
T |
A |
2: 180,614,518 (GRCm39) |
S125T |
probably benign |
Het |
| Atxn2 |
G |
T |
5: 121,949,042 (GRCm39) |
A813S |
probably damaging |
Het |
| Cadps |
C |
A |
14: 12,522,352 (GRCm38) |
S604I |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,433,480 (GRCm39) |
M1488L |
unknown |
Het |
| Fndc3c1 |
T |
C |
X: 105,475,029 (GRCm39) |
N941S |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,244,305 (GRCm39) |
Y1172C |
possibly damaging |
Het |
| Gm1527 |
T |
C |
3: 28,949,737 (GRCm39) |
|
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,388,230 (GRCm39) |
L458P |
probably damaging |
Het |
| Il2 |
T |
C |
3: 37,177,156 (GRCm39) |
T127A |
possibly damaging |
Het |
| Inpp5e |
A |
G |
2: 26,287,946 (GRCm39) |
Y617H |
probably damaging |
Het |
| Isoc2b |
G |
A |
7: 4,853,763 (GRCm39) |
S137F |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,490 (GRCm39) |
P241S |
probably damaging |
Het |
| Mfsd6 |
C |
A |
1: 52,748,481 (GRCm39) |
R128L |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,088,462 (GRCm39) |
T153A |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,315 (GRCm39) |
F209S |
possibly damaging |
Het |
| Or8d1 |
A |
T |
9: 38,767,095 (GRCm39) |
M246L |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,098,599 (GRCm39) |
N2022S |
probably benign |
Het |
| Scrt2 |
C |
A |
2: 151,935,560 (GRCm39) |
R238S |
probably damaging |
Het |
| St3gal6 |
T |
A |
16: 58,305,138 (GRCm39) |
D108V |
probably benign |
Het |
| Tmem132b |
C |
T |
5: 125,855,855 (GRCm39) |
T529M |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,954,904 (GRCm39) |
|
probably null |
Het |
| Tspyl1 |
T |
A |
10: 34,159,195 (GRCm39) |
S307T |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,131,982 (GRCm39) |
S735G |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,221,668 (GRCm39) |
M1186V |
possibly damaging |
Het |
|
| Other mutations in 4933427I04Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:4933427I04Rik
|
APN |
4 |
123,754,338 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02246:4933427I04Rik
|
APN |
4 |
123,754,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4494001:4933427I04Rik
|
UTSW |
4 |
123,754,698 (GRCm39) |
missense |
probably benign |
|
|
R0090:4933427I04Rik
|
UTSW |
4 |
123,754,775 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0299:4933427I04Rik
|
UTSW |
4 |
123,754,615 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0598:4933427I04Rik
|
UTSW |
4 |
123,754,681 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1775:4933427I04Rik
|
UTSW |
4 |
123,754,286 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2082:4933427I04Rik
|
UTSW |
4 |
123,754,769 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4581:4933427I04Rik
|
UTSW |
4 |
123,754,146 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4594:4933427I04Rik
|
UTSW |
4 |
123,754,331 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4841:4933427I04Rik
|
UTSW |
4 |
123,754,170 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6021:4933427I04Rik
|
UTSW |
4 |
123,754,509 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6759:4933427I04Rik
|
UTSW |
4 |
123,753,879 (GRCm39) |
start gained |
probably benign |
|
|
R7660:4933427I04Rik
|
UTSW |
4 |
123,754,512 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8553:4933427I04Rik
|
UTSW |
4 |
123,754,327 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9333:4933427I04Rik
|
UTSW |
4 |
123,754,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9399:4933427I04Rik
|
UTSW |
4 |
123,754,413 (GRCm39) |
nonsense |
probably null |
|
|
R9465:4933427I04Rik
|
UTSW |
4 |
123,754,317 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1176:4933427I04Rik
|
UTSW |
4 |
123,754,668 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-12-03 |
Incidental Mutation