Incidental Mutation 'IGL01747:4833439L19Rik'
| ID |
153057 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4833439L19Rik
|
| Ensembl Gene |
ENSMUSG00000025871 |
| Gene Name |
RIKEN cDNA 4833439L19 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
IGL01747
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
54699031-54713195 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 54704338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026989]
[ENSMUST00000143144]
[ENSMUST00000153065]
|
| AlphaFold |
Q9DBN4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026989
|
| SMART Domains |
Protein: ENSMUSP00000026989
Gene: ENSMUSG00000025871
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P33MONOX
|
15 |
303 |
5.8e-133 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143144
|
| SMART Domains |
Protein: ENSMUSP00000120615
Gene: ENSMUSG00000025871
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P33MONOX
|
14 |
133 |
9.7e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150938
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153065
|
| SMART Domains |
Protein: ENSMUSP00000119874
Gene: ENSMUSG00000025871
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P33MONOX
|
1 |
284 |
7e-147 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153708
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,877,310 (GRCm39) |
N986S |
probably benign |
Het |
| Adamts17 |
G |
A |
7: 66,701,759 (GRCm39) |
G702D |
probably damaging |
Het |
| Aox3 |
G |
A |
1: 58,198,817 (GRCm39) |
V671M |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,387,254 (GRCm39) |
Y124* |
probably null |
Het |
| Astn2 |
A |
T |
4: 65,712,855 (GRCm39) |
M595K |
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,889,273 (GRCm39) |
|
probably benign |
Het |
| Dhrs2 |
A |
T |
14: 55,472,120 (GRCm39) |
I4L |
probably benign |
Het |
| Fbxo4 |
A |
T |
15: 3,995,237 (GRCm39) |
L369* |
probably null |
Het |
| Gpbp1 |
G |
A |
13: 111,589,584 (GRCm39) |
R129C |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,750,697 (GRCm39) |
I2956L |
probably damaging |
Het |
| Myo16 |
C |
T |
8: 10,654,877 (GRCm39) |
T1843I |
probably damaging |
Het |
| Or1j14 |
T |
C |
2: 36,417,844 (GRCm39) |
L140P |
probably damaging |
Het |
| Or8k3b |
T |
C |
2: 86,521,045 (GRCm39) |
I91M |
possibly damaging |
Het |
| Pcdhb2 |
T |
G |
18: 37,429,356 (GRCm39) |
V86G |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 106,639,836 (GRCm39) |
M172T |
probably damaging |
Het |
| Slc38a10 |
T |
C |
11: 120,025,600 (GRCm39) |
|
probably benign |
Het |
| Spry2 |
C |
T |
14: 106,130,488 (GRCm39) |
D233N |
probably damaging |
Het |
| Tmem163 |
T |
A |
1: 127,596,457 (GRCm39) |
R84W |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,972,656 (GRCm39) |
I306V |
probably benign |
Het |
| Virma |
T |
C |
4: 11,526,877 (GRCm39) |
L1092P |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,702 (GRCm39) |
Y400C |
probably damaging |
Het |
|
| Other mutations in 4833439L19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02819:4833439L19Rik
|
APN |
13 |
54,712,033 (GRCm39) |
intron |
probably benign |
|
|
IGL02935:4833439L19Rik
|
APN |
13 |
54,709,675 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0508:4833439L19Rik
|
UTSW |
13 |
54,700,863 (GRCm39) |
splice site |
probably null |
|
|
R3900:4833439L19Rik
|
UTSW |
13 |
54,700,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5091:4833439L19Rik
|
UTSW |
13 |
54,701,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5737:4833439L19Rik
|
UTSW |
13 |
54,707,055 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7283:4833439L19Rik
|
UTSW |
13 |
54,700,504 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8783:4833439L19Rik
|
UTSW |
13 |
54,700,520 (GRCm39) |
missense |
probably benign |
|
|
R9729:4833439L19Rik
|
UTSW |
13 |
54,700,519 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2014-02-04 |
Incidental Mutation