Incidental Mutation 'D3080:2310003L06Rik'
| ID |
118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
2310003L06Rik
|
| Ensembl Gene |
ENSMUSG00000007457 |
| Gene Name |
RIKEN cDNA 2310003L06 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
D3080
of strain
grasshopper
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
88117318-88120729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 88119846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 201
(P201Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007601]
[ENSMUST00000187738]
|
| AlphaFold |
Q9CV82 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007601
AA Change: P201Q
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: P201Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190123
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
|
| Validation Efficiency |
82% (141/173) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdp1 |
A |
T |
13: 100,160,129 (GRCm39) |
S2417R |
probably benign |
Het |
| Ccdc168 |
C |
A |
1: 44,106,495 (GRCm39) |
|
|
Het |
| Dscaml1 |
A |
T |
9: 45,595,623 (GRCm39) |
H783L |
probably benign |
Het |
| Fbxl5 |
A |
T |
5: 43,915,708 (GRCm39) |
M568K |
probably benign |
Het |
| Gab1 |
T |
A |
8: 81,493,007 (GRCm39) |
D710V |
probably damaging |
Homo |
| Gabrr2 |
T |
C |
4: 33,084,466 (GRCm39) |
F128S |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,295,774 (GRCm39) |
V343E |
probably damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,143,766 (GRCm39) |
T44A |
probably benign |
Het |
| Nsd3 |
C |
A |
8: 26,203,572 (GRCm39) |
T1362N |
possibly damaging |
Homo |
| Or6f2 |
G |
A |
7: 139,756,275 (GRCm39) |
V81M |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,728,976 (GRCm39) |
N649K |
probably damaging |
Homo |
| Pde4dip |
T |
C |
3: 97,674,146 (GRCm39) |
K257E |
probably damaging |
Het |
| Pfpl |
G |
A |
19: 12,406,196 (GRCm39) |
R149Q |
probably damaging |
Homo |
| Pou2f2 |
G |
T |
7: 24,796,558 (GRCm39) |
|
probably benign |
Het |
| Rptn |
A |
G |
3: 93,303,135 (GRCm39) |
D156G |
possibly damaging |
Het |
| Sec31a |
T |
C |
5: 100,511,691 (GRCm39) |
D1107G |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 178,913,987 (GRCm39) |
Y239H |
probably damaging |
Het |
| Stoml3 |
T |
C |
3: 53,405,415 (GRCm39) |
F32S |
probably benign |
Het |
| Tnnc1 |
C |
A |
14: 30,932,147 (GRCm39) |
D62E |
probably damaging |
Homo |
| Vsig10 |
C |
T |
5: 117,481,884 (GRCm39) |
A358V |
probably damaging |
Het |
|
| Other mutations in 2310003L06Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:2310003L06Rik
|
APN |
5 |
88,120,649 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01938:2310003L06Rik
|
APN |
5 |
88,119,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03032:2310003L06Rik
|
APN |
5 |
88,119,774 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
G1Funyon:2310003L06Rik
|
UTSW |
5 |
88,120,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02984:2310003L06Rik
|
UTSW |
5 |
88,120,662 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4243001:2310003L06Rik
|
UTSW |
5 |
88,119,999 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0359:2310003L06Rik
|
UTSW |
5 |
88,112,455 (GRCm39) |
unclassified |
probably benign |
|
|
R0676:2310003L06Rik
|
UTSW |
5 |
88,112,516 (GRCm39) |
unclassified |
probably benign |
|
|
R1524:2310003L06Rik
|
UTSW |
5 |
88,119,548 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1536:2310003L06Rik
|
UTSW |
5 |
88,118,524 (GRCm39) |
missense |
probably benign |
|
|
R1998:2310003L06Rik
|
UTSW |
5 |
88,118,553 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2080:2310003L06Rik
|
UTSW |
5 |
88,119,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:2310003L06Rik
|
UTSW |
5 |
88,112,335 (GRCm39) |
unclassified |
probably benign |
|
|
R2177:2310003L06Rik
|
UTSW |
5 |
88,120,312 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2399:2310003L06Rik
|
UTSW |
5 |
88,120,338 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3748:2310003L06Rik
|
UTSW |
5 |
88,112,422 (GRCm39) |
unclassified |
probably benign |
|
|
R4010:2310003L06Rik
|
UTSW |
5 |
88,120,136 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4096:2310003L06Rik
|
UTSW |
5 |
88,120,008 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4656:2310003L06Rik
|
UTSW |
5 |
88,112,534 (GRCm39) |
unclassified |
probably benign |
|
|
R4823:2310003L06Rik
|
UTSW |
5 |
88,120,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5753:2310003L06Rik
|
UTSW |
5 |
88,120,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6087:2310003L06Rik
|
UTSW |
5 |
88,119,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6931:2310003L06Rik
|
UTSW |
5 |
88,118,561 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7032:2310003L06Rik
|
UTSW |
5 |
88,120,438 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7703:2310003L06Rik
|
UTSW |
5 |
88,120,671 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7912:2310003L06Rik
|
UTSW |
5 |
88,120,451 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8185:2310003L06Rik
|
UTSW |
5 |
88,120,011 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8301:2310003L06Rik
|
UTSW |
5 |
88,120,364 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9010:2310003L06Rik
|
UTSW |
5 |
88,119,504 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9179:2310003L06Rik
|
UTSW |
5 |
88,119,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9225:2310003L06Rik
|
UTSW |
5 |
88,120,433 (GRCm39) |
missense |
probably benign |
|
|
R9226:2310003L06Rik
|
UTSW |
5 |
88,118,518 (GRCm39) |
start codon destroyed |
probably benign |
0.14 |
|
R9309:2310003L06Rik
|
UTSW |
5 |
88,120,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9373:2310003L06Rik
|
UTSW |
5 |
88,120,668 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9431:2310003L06Rik
|
UTSW |
5 |
88,120,325 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1088:2310003L06Rik
|
UTSW |
5 |
88,120,165 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a C to A transversion at position 720 of the 2310003L06Rik transcript. The mutated nucleotide causes a proline to glutamine substitution at amino acid 201 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The 2310003L06Rik gene encodes a 495 amino acid putative uncharacterized protein with evidence at the transcript level (Uniprot Q9CV82). Analysis using the SMART program identifies a signal peptide at amino acids 1-22.
The P201Q change is predicted to be benign by the PolyPhen program. |
| Posted On |
2010-03-11 |
Incidental Mutation