Incidental Mutation 'IGL00688:1700009N14Rik'
ID |
12408 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700009N14Rik
|
Ensembl Gene |
ENSMUSG00000028287 |
Gene Name |
RIKEN cDNA 1700009N14 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.903)
|
Stock # |
IGL00688
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
39450295-39451776 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 39451443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 216
(L216F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029955]
|
AlphaFold |
Q14AA6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029955
AA Change: L216F
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000029955 Gene: ENSMUSG00000028287 AA Change: L216F
Domain | Start | End | E-Value | Type |
RAN
|
16 |
216 |
3.9e-163 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169881
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg13 |
A |
T |
2: 91,516,842 (GRCm39) |
|
probably benign |
Het |
Fgf7 |
A |
G |
2: 125,931,365 (GRCm39) |
T157A |
probably damaging |
Het |
Irak4 |
A |
G |
15: 94,464,744 (GRCm39) |
H438R |
possibly damaging |
Het |
Kansl1 |
T |
C |
11: 104,315,892 (GRCm39) |
T49A |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 74,945,171 (GRCm39) |
K693E |
probably benign |
Het |
Nfrkb |
T |
A |
9: 31,300,345 (GRCm39) |
D45E |
probably damaging |
Het |
Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
Prlr |
T |
C |
15: 10,322,467 (GRCm39) |
|
probably benign |
Het |
Prpf40b |
A |
G |
15: 99,214,012 (GRCm39) |
K789E |
probably benign |
Het |
Reep5 |
A |
T |
18: 34,482,746 (GRCm39) |
S154R |
probably benign |
Het |
Setx |
T |
A |
2: 29,038,457 (GRCm39) |
S1647R |
possibly damaging |
Het |
Sptbn2 |
A |
G |
19: 4,775,966 (GRCm39) |
E174G |
probably damaging |
Het |
Taf1 |
A |
G |
X: 100,606,545 (GRCm39) |
E1248G |
probably damaging |
Het |
Tanc1 |
T |
G |
2: 59,645,735 (GRCm39) |
L929R |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,689,516 (GRCm39) |
Y226C |
probably damaging |
Het |
Tmem69 |
T |
C |
4: 116,410,671 (GRCm39) |
I100V |
probably benign |
Het |
|
Other mutations in 1700009N14Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4377001:1700009N14Rik
|
UTSW |
4 |
39,451,129 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0308:1700009N14Rik
|
UTSW |
4 |
39,450,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R5061:1700009N14Rik
|
UTSW |
4 |
39,450,953 (GRCm39) |
missense |
probably benign |
0.03 |
R5154:1700009N14Rik
|
UTSW |
4 |
39,450,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R5507:1700009N14Rik
|
UTSW |
4 |
39,451,084 (GRCm39) |
missense |
probably damaging |
0.96 |
R6463:1700009N14Rik
|
UTSW |
4 |
39,450,938 (GRCm39) |
missense |
probably damaging |
0.98 |
R6924:1700009N14Rik
|
UTSW |
4 |
39,450,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R7253:1700009N14Rik
|
UTSW |
4 |
39,451,391 (GRCm39) |
missense |
not run |
|
R7487:1700009N14Rik
|
UTSW |
4 |
39,450,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R7790:1700009N14Rik
|
UTSW |
4 |
39,451,201 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8758:1700009N14Rik
|
UTSW |
4 |
39,450,811 (GRCm39) |
missense |
probably benign |
|
R9379:1700009N14Rik
|
UTSW |
4 |
39,451,201 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2012-12-06 |