Incidental Mutation 'IGL00476:4931414P19Rik'
| ID |
12421 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4931414P19Rik
|
| Ensembl Gene |
ENSMUSG00000022179 |
| Gene Name |
RIKEN cDNA 4931414P19 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL00476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
54821120-54843450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54833035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 47
(T47A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022786
AA Change: T47A
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022786
Gene: ENSMUSG00000022179
AA Change: T47A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4616
|
2 |
538 |
1.5e-263 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
| Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
| Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
| Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
| Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
| Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
| Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
| Other mutations in 4931414P19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01448:4931414P19Rik
|
APN |
14 |
54,823,417 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01934:4931414P19Rik
|
APN |
14 |
54,823,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02194:4931414P19Rik
|
APN |
14 |
54,828,812 (GRCm39) |
nonsense |
probably null |
|
|
IGL02721:4931414P19Rik
|
APN |
14 |
54,823,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03124:4931414P19Rik
|
APN |
14 |
54,832,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0575:4931414P19Rik
|
UTSW |
14 |
54,828,709 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2049:4931414P19Rik
|
UTSW |
14 |
54,822,444 (GRCm39) |
nonsense |
probably null |
|
|
R3829:4931414P19Rik
|
UTSW |
14 |
54,821,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:4931414P19Rik
|
UTSW |
14 |
54,828,857 (GRCm39) |
nonsense |
probably null |
|
|
R4392:4931414P19Rik
|
UTSW |
14 |
54,822,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4680:4931414P19Rik
|
UTSW |
14 |
54,822,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4805:4931414P19Rik
|
UTSW |
14 |
54,832,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4940:4931414P19Rik
|
UTSW |
14 |
54,828,782 (GRCm39) |
missense |
probably benign |
|
|
R5091:4931414P19Rik
|
UTSW |
14 |
54,823,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:4931414P19Rik
|
UTSW |
14 |
54,823,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:4931414P19Rik
|
UTSW |
14 |
54,822,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:4931414P19Rik
|
UTSW |
14 |
54,828,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:4931414P19Rik
|
UTSW |
14 |
54,833,058 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7229:4931414P19Rik
|
UTSW |
14 |
54,832,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7616:4931414P19Rik
|
UTSW |
14 |
54,823,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation