Incidental Mutation 'IGL02246:4933427I04Rik'
ID |
286204 |
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 # |
IGL02246
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
123753472-123756958 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 123754655 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 190
(D190Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095506
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097896]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097896
AA Change: D190Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
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 |
Acat1 |
G |
A |
9: 53,496,166 (GRCm39) |
L324F |
probably benign |
Het |
Ago2 |
T |
C |
15: 72,980,267 (GRCm39) |
H743R |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,985,632 (GRCm39) |
L2305F |
probably damaging |
Het |
Ankhd1 |
T |
A |
18: 36,789,779 (GRCm39) |
H2438Q |
probably damaging |
Het |
Atm |
G |
T |
9: 53,438,485 (GRCm39) |
Q162K |
probably benign |
Het |
Bpifa6 |
A |
T |
2: 153,831,196 (GRCm39) |
E254V |
probably damaging |
Het |
Carns1 |
T |
A |
19: 4,216,431 (GRCm39) |
N584Y |
possibly damaging |
Het |
Cmklr1 |
T |
C |
5: 113,752,461 (GRCm39) |
N180S |
probably benign |
Het |
Col6a5 |
G |
A |
9: 105,788,306 (GRCm39) |
R1565* |
probably null |
Het |
Fbxo43 |
T |
A |
15: 36,162,842 (GRCm39) |
I122L |
probably benign |
Het |
Fibp |
A |
G |
19: 5,513,264 (GRCm39) |
Y193C |
probably damaging |
Het |
Gm10923 |
A |
G |
15: 85,001,132 (GRCm39) |
|
probably benign |
Het |
Il12rb2 |
A |
G |
6: 67,285,940 (GRCm39) |
|
probably null |
Het |
Jakmip2 |
T |
C |
18: 43,700,223 (GRCm39) |
E445G |
possibly damaging |
Het |
Krcc1 |
G |
A |
6: 71,261,405 (GRCm39) |
D146N |
probably benign |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Map2k5 |
A |
T |
9: 63,284,411 (GRCm39) |
D43E |
probably benign |
Het |
Nup155 |
A |
G |
15: 8,172,486 (GRCm39) |
K824R |
probably benign |
Het |
Or2o1 |
T |
C |
11: 49,050,921 (GRCm39) |
S27P |
probably benign |
Het |
Or51g2 |
T |
C |
7: 102,622,951 (GRCm39) |
T83A |
possibly damaging |
Het |
Phkg1 |
G |
A |
5: 129,893,479 (GRCm39) |
R324W |
probably damaging |
Het |
Plcd1 |
G |
A |
9: 118,901,677 (GRCm39) |
L616F |
probably benign |
Het |
Rnf141 |
A |
T |
7: 110,424,494 (GRCm39) |
S122T |
probably benign |
Het |
Tap1 |
G |
A |
17: 34,412,963 (GRCm39) |
V593M |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,325,076 (GRCm39) |
L534P |
probably damaging |
Het |
Ubr4 |
G |
T |
4: 139,186,414 (GRCm39) |
E640D |
possibly damaging |
Het |
Vmn1r169 |
A |
C |
7: 23,276,661 (GRCm39) |
I18L |
probably benign |
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 |
IGL01518:4933427I04Rik
|
APN |
4 |
123,754,494 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-04-16 |