Incidental Mutation 'R4201:4921524L21Rik'
| ID |
318775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4921524L21Rik
|
| Ensembl Gene |
ENSMUSG00000039540 |
| Gene Name |
RIKEN cDNA 4921524L21 gene |
| Synonyms |
|
| MMRRC Submission |
041031-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4201 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
6603629-6638970 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 6623952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044829]
|
| AlphaFold |
Q9D5T2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044829
|
| SMART Domains |
Protein: ENSMUSP00000035514
Gene: ENSMUSG00000039540
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
T |
1: 59,219,313 (GRCm39) |
D1212E |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,495,530 (GRCm39) |
S1167P |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp1b2 |
A |
G |
11: 69,494,295 (GRCm39) |
V66A |
possibly damaging |
Het |
| Bag3 |
C |
A |
7: 128,147,881 (GRCm39) |
L499I |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,310,981 (GRCm39) |
D751G |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,359,587 (GRCm39) |
Y145C |
probably benign |
Het |
| Ccdc172 |
G |
A |
19: 58,525,017 (GRCm39) |
R158H |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cd9 |
T |
C |
6: 125,439,357 (GRCm39) |
D125G |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,243,834 (GRCm39) |
I1493V |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,359 (GRCm39) |
D57G |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,972,238 (GRCm39) |
R1201W |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 30,984,227 (GRCm39) |
V3976A |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,930,394 (GRCm39) |
D3317G |
possibly damaging |
Het |
| Dnmt3b |
G |
T |
2: 153,512,337 (GRCm39) |
E353* |
probably null |
Het |
| Gch1 |
T |
C |
14: 47,393,260 (GRCm39) |
S241G |
probably benign |
Het |
| Gpr22 |
A |
T |
12: 31,758,912 (GRCm39) |
Y366* |
probably null |
Het |
| Gse1 |
A |
T |
8: 121,294,503 (GRCm39) |
M277L |
probably benign |
Het |
| Kcnt2 |
G |
A |
1: 140,353,070 (GRCm39) |
V260I |
probably damaging |
Het |
| Nbas |
G |
T |
12: 13,424,827 (GRCm39) |
C1022F |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,497 (GRCm39) |
L274H |
probably damaging |
Het |
| Parp4 |
C |
A |
14: 56,829,848 (GRCm39) |
T274K |
possibly damaging |
Het |
| Pgs1 |
A |
G |
11: 117,893,362 (GRCm39) |
S230G |
probably damaging |
Het |
| Plin4 |
T |
G |
17: 56,411,338 (GRCm39) |
T898P |
probably damaging |
Het |
| Ptprj |
A |
C |
2: 90,293,439 (GRCm39) |
V548G |
probably damaging |
Het |
| Sec23a |
T |
C |
12: 59,048,791 (GRCm39) |
I139M |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,297,870 (GRCm39) |
D1142E |
probably benign |
Het |
| Tbccd1 |
A |
G |
16: 22,644,698 (GRCm39) |
V226A |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmed7 |
A |
G |
18: 46,726,314 (GRCm39) |
|
probably null |
Het |
| Tnfrsf23 |
A |
T |
7: 143,223,791 (GRCm39) |
C137S |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
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 |
|
R1069:4921524L21Rik
|
UTSW |
18 |
6,624,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- TTATGCAGTCTCTAAACCTCACAAC -3'
(R):5'- TCAATTTCTGTAAAGCCAGAGGAC -3'
Sequencing Primer
(F):5'- AGTCTCTAAACCTCACAACTAACTAC -3'
(R):5'- CTGTAAAGCCAGAGGACTTTCATCTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation