Incidental Mutation 'IGL00714:2900092C05Rik'
ID |
8445 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
2900092C05Rik
|
Ensembl Gene |
ENSMUSG00000030385 |
Gene Name |
RIKEN cDNA 2900092C05 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL00714
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
12246444-12290250 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 12289931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032541
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032541]
|
AlphaFold |
Q5I0V9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032541
|
SMART Domains |
Protein: ENSMUSP00000032541 Gene: ENSMUSG00000030385
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209381
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 10 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Casp8ap2 |
A |
G |
4: 32,649,192 (GRCm39) |
Q1951R |
probably damaging |
Het |
Cd22 |
T |
C |
7: 30,575,572 (GRCm39) |
M157V |
probably benign |
Het |
Csta1 |
A |
G |
16: 35,945,369 (GRCm39) |
V48A |
probably damaging |
Het |
Fxr1 |
T |
C |
3: 34,101,776 (GRCm39) |
|
probably benign |
Het |
Pcdh1 |
G |
A |
18: 38,331,782 (GRCm39) |
T407I |
possibly damaging |
Het |
Pcdha1 |
A |
T |
18: 37,065,228 (GRCm39) |
T631S |
probably damaging |
Het |
Sec23b |
C |
T |
2: 144,401,145 (GRCm39) |
A2V |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,649,745 (GRCm39) |
V97A |
probably benign |
Het |
Ttll9 |
A |
C |
2: 152,826,180 (GRCm39) |
E130A |
probably damaging |
Het |
Zfp160 |
A |
T |
17: 21,246,964 (GRCm39) |
T505S |
probably benign |
Het |
|
Other mutations in 2900092C05Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01744:2900092C05Rik
|
APN |
7 |
12,284,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03047:2900092C05Rik
|
UTSW |
7 |
12,246,568 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0001:2900092C05Rik
|
UTSW |
7 |
12,288,534 (GRCm39) |
splice site |
probably benign |
|
R0607:2900092C05Rik
|
UTSW |
7 |
12,288,625 (GRCm39) |
missense |
probably benign |
0.19 |
R0831:2900092C05Rik
|
UTSW |
7 |
12,284,523 (GRCm39) |
splice site |
probably benign |
|
R1468:2900092C05Rik
|
UTSW |
7 |
12,246,507 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
R1468:2900092C05Rik
|
UTSW |
7 |
12,246,507 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
R1846:2900092C05Rik
|
UTSW |
7 |
12,246,809 (GRCm39) |
missense |
probably benign |
0.38 |
R1852:2900092C05Rik
|
UTSW |
7 |
12,246,629 (GRCm39) |
splice site |
probably null |
|
R1912:2900092C05Rik
|
UTSW |
7 |
12,288,582 (GRCm39) |
missense |
probably benign |
0.01 |
R3442:2900092C05Rik
|
UTSW |
7 |
12,246,583 (GRCm39) |
nonsense |
probably null |
|
R3694:2900092C05Rik
|
UTSW |
7 |
12,284,443 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3751:2900092C05Rik
|
UTSW |
7 |
12,289,973 (GRCm39) |
missense |
probably benign |
0.02 |
R5977:2900092C05Rik
|
UTSW |
7 |
12,288,664 (GRCm39) |
missense |
probably benign |
0.17 |
R6158:2900092C05Rik
|
UTSW |
7 |
12,246,599 (GRCm39) |
missense |
probably benign |
0.37 |
R6777:2900092C05Rik
|
UTSW |
7 |
12,246,756 (GRCm39) |
missense |
probably benign |
0.00 |
R6931:2900092C05Rik
|
UTSW |
7 |
12,246,523 (GRCm39) |
missense |
unknown |
|
R7284:2900092C05Rik
|
UTSW |
7 |
12,246,605 (GRCm39) |
nonsense |
probably null |
|
R7406:2900092C05Rik
|
UTSW |
7 |
12,249,391 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8472:2900092C05Rik
|
UTSW |
7 |
12,246,568 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8802:2900092C05Rik
|
UTSW |
7 |
12,249,415 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8877:2900092C05Rik
|
UTSW |
7 |
12,288,704 (GRCm39) |
critical splice donor site |
probably null |
|
R9175:2900092C05Rik
|
UTSW |
7 |
12,249,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-12-06 |