Incidental Mutation 'R1069:4921524L21Rik'
ID |
86140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4921524L21Rik
|
Ensembl Gene |
ENSMUSG00000039540 |
Gene Name |
RIKEN cDNA 4921524L21 gene |
Synonyms |
|
MMRRC Submission |
039155-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R1069 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
6603629-6638970 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6624037 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 106
(N106S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044829]
|
AlphaFold |
Q9D5T2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044829
AA Change: N106S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000035514 Gene: ENSMUSG00000039540 AA Change: N106S
Domain | Start | End | E-Value | Type |
Pfam:DUF3496
|
131 |
235 |
6.9e-12 |
PFAM |
coiled coil region
|
269 |
292 |
N/A |
INTRINSIC |
low complexity region
|
408 |
419 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0621 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c21 |
C |
A |
13: 4,625,333 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
G |
A |
18: 65,438,085 (GRCm39) |
R1570C |
probably benign |
Het |
Atp8b3 |
G |
A |
10: 80,366,852 (GRCm39) |
R249C |
probably damaging |
Het |
Cacnb4 |
C |
A |
2: 52,345,623 (GRCm39) |
R252I |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,844 (GRCm39) |
T480A |
probably benign |
Het |
Ccnf |
A |
T |
17: 24,442,971 (GRCm39) |
C745* |
probably null |
Het |
Ccr8 |
A |
G |
9: 119,923,283 (GRCm39) |
I133V |
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Dgkq |
T |
C |
5: 108,803,903 (GRCm39) |
|
probably benign |
Het |
Ecd |
A |
G |
14: 20,383,504 (GRCm39) |
C312R |
probably damaging |
Het |
Eddm13 |
A |
T |
7: 6,258,921 (GRCm39) |
|
probably null |
Het |
Gstm1 |
T |
C |
3: 107,920,064 (GRCm39) |
S226G |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hacd4 |
T |
A |
4: 88,355,739 (GRCm39) |
I49L |
probably damaging |
Het |
Hid1 |
T |
C |
11: 115,247,591 (GRCm39) |
N269S |
probably damaging |
Het |
Ifitm3 |
A |
T |
7: 140,589,813 (GRCm39) |
|
probably benign |
Het |
Kctd9 |
C |
T |
14: 67,966,869 (GRCm39) |
|
probably benign |
Het |
Kif20b |
T |
C |
19: 34,928,251 (GRCm39) |
L1131P |
probably damaging |
Het |
Kif2c |
T |
C |
4: 117,035,350 (GRCm39) |
T33A |
probably damaging |
Het |
Lipc |
T |
C |
9: 70,730,819 (GRCm39) |
T38A |
probably benign |
Het |
Lrguk |
A |
C |
6: 34,025,818 (GRCm39) |
I205L |
possibly damaging |
Het |
Mir100hg |
G |
A |
9: 41,501,594 (GRCm39) |
R151H |
possibly damaging |
Het |
Ncapg |
T |
A |
5: 45,833,272 (GRCm39) |
|
probably benign |
Het |
Ptprd |
A |
G |
4: 75,916,724 (GRCm39) |
|
probably benign |
Het |
Ptprd |
T |
A |
4: 76,018,870 (GRCm39) |
K635* |
probably null |
Het |
Sap130 |
G |
A |
18: 31,844,682 (GRCm39) |
V898I |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
Tas2r131 |
C |
T |
6: 132,934,788 (GRCm39) |
R7K |
probably benign |
Het |
Tfpi |
A |
G |
2: 84,284,136 (GRCm39) |
|
probably benign |
Het |
Trim80 |
T |
C |
11: 115,338,909 (GRCm39) |
C580R |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
|
Other mutations in 4921524L21Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01286:4921524L21Rik
|
APN |
18 |
6,629,578 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01402:4921524L21Rik
|
APN |
18 |
6,638,653 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01404:4921524L21Rik
|
APN |
18 |
6,638,653 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02680:4921524L21Rik
|
APN |
18 |
6,635,949 (GRCm39) |
splice site |
probably benign |
|
PIT4812001:4921524L21Rik
|
UTSW |
18 |
6,630,053 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0532:4921524L21Rik
|
UTSW |
18 |
6,638,618 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1706:4921524L21Rik
|
UTSW |
18 |
6,624,059 (GRCm39) |
splice site |
probably benign |
|
R1768:4921524L21Rik
|
UTSW |
18 |
6,623,470 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1912:4921524L21Rik
|
UTSW |
18 |
6,620,205 (GRCm39) |
missense |
possibly damaging |
0.72 |
R3820:4921524L21Rik
|
UTSW |
18 |
6,630,166 (GRCm39) |
critical splice donor site |
probably null |
|
R3840:4921524L21Rik
|
UTSW |
18 |
6,620,104 (GRCm39) |
missense |
probably benign |
0.44 |
R3841:4921524L21Rik
|
UTSW |
18 |
6,620,104 (GRCm39) |
missense |
probably benign |
0.44 |
R4201:4921524L21Rik
|
UTSW |
18 |
6,623,952 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4852:4921524L21Rik
|
UTSW |
18 |
6,623,488 (GRCm39) |
missense |
probably damaging |
0.99 |
R4852:4921524L21Rik
|
UTSW |
18 |
6,623,487 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5218:4921524L21Rik
|
UTSW |
18 |
6,629,628 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5389:4921524L21Rik
|
UTSW |
18 |
6,638,795 (GRCm39) |
missense |
probably benign |
0.14 |
R5428:4921524L21Rik
|
UTSW |
18 |
6,635,918 (GRCm39) |
missense |
probably benign |
0.04 |
R5873:4921524L21Rik
|
UTSW |
18 |
6,630,167 (GRCm39) |
critical splice donor site |
probably null |
|
R6120:4921524L21Rik
|
UTSW |
18 |
6,638,795 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6345:4921524L21Rik
|
UTSW |
18 |
6,626,399 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7246:4921524L21Rik
|
UTSW |
18 |
6,635,902 (GRCm39) |
missense |
probably damaging |
0.98 |
R7296:4921524L21Rik
|
UTSW |
18 |
6,626,385 (GRCm39) |
missense |
probably damaging |
0.99 |
R8796:4921524L21Rik
|
UTSW |
18 |
6,629,482 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8897:4921524L21Rik
|
UTSW |
18 |
6,635,934 (GRCm39) |
missense |
probably damaging |
0.98 |
R8930:4921524L21Rik
|
UTSW |
18 |
6,629,693 (GRCm39) |
critical splice donor site |
probably null |
|
R8932:4921524L21Rik
|
UTSW |
18 |
6,629,693 (GRCm39) |
critical splice donor site |
probably null |
|
R8991:4921524L21Rik
|
UTSW |
18 |
6,620,232 (GRCm39) |
missense |
probably damaging |
0.99 |
R9108:4921524L21Rik
|
UTSW |
18 |
6,638,794 (GRCm39) |
missense |
probably benign |
0.04 |
R9235:4921524L21Rik
|
UTSW |
18 |
6,623,518 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9642:4921524L21Rik
|
UTSW |
18 |
6,619,412 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:4921524L21Rik
|
UTSW |
18 |
6,635,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTGAGCACTACACCTATGTGAGC -3'
(R):5'- TCAGTCAATTTCTGTAAAGCCAGAGGAC -3'
Sequencing Primer
(F):5'- ggggcagggaataagtcag -3'
(R):5'- CTGTAAAGCCAGAGGACTTTCATC -3'
|
Posted On |
2013-11-18 |