Incidental Mutation 'R6634:4921539E11Rik'
ID |
525369 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4921539E11Rik
|
Ensembl Gene |
ENSMUSG00000028520 |
Gene Name |
RIKEN cDNA 4921539E11 gene |
Synonyms |
|
MMRRC Submission |
044756-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R6634 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
103087642-103148060 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 103094127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030245]
[ENSMUST00000097944]
[ENSMUST00000168664]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000030245
|
SMART Domains |
Protein: ENSMUSP00000030245 Gene: ENSMUSG00000028520
Domain | Start | End | E-Value | Type |
Pfam:DUF4545
|
1 |
443 |
6.1e-206 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000097944
|
SMART Domains |
Protein: ENSMUSP00000095557 Gene: ENSMUSG00000028520
Domain | Start | End | E-Value | Type |
Pfam:DUF4545
|
1 |
270 |
7.3e-116 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168664
|
SMART Domains |
Protein: ENSMUSP00000131846 Gene: ENSMUSG00000028520
Domain | Start | End | E-Value | Type |
Pfam:DUF4545
|
1 |
342 |
4.4e-183 |
PFAM |
|
Meta Mutation Damage Score |
0.9378 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
97% (31/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
C |
A |
11: 69,059,647 (GRCm39) |
Y566* |
probably null |
Het |
Chl1 |
T |
A |
6: 103,667,220 (GRCm39) |
S403R |
probably damaging |
Het |
Cpa5 |
T |
A |
6: 30,626,363 (GRCm39) |
D241E |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Cyp2t4 |
C |
A |
7: 26,855,213 (GRCm39) |
C121* |
probably null |
Het |
Dkkl1 |
C |
A |
7: 44,859,882 (GRCm39) |
R56L |
possibly damaging |
Het |
Ebf3 |
A |
G |
7: 136,802,889 (GRCm39) |
V387A |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,784,609 (GRCm39) |
M2797T |
probably benign |
Het |
Fer1l5 |
A |
G |
1: 36,450,466 (GRCm39) |
T1212A |
probably damaging |
Het |
Galnt16 |
T |
A |
12: 80,565,944 (GRCm39) |
M1K |
probably null |
Het |
Gm5800 |
A |
G |
14: 51,953,595 (GRCm39) |
S7P |
possibly damaging |
Het |
Gstp1 |
T |
A |
19: 4,085,510 (GRCm39) |
H199L |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,345,026 (GRCm39) |
S1940P |
probably benign |
Het |
Igkv8-24 |
C |
T |
6: 70,194,365 (GRCm39) |
W14* |
probably null |
Het |
Iqcd |
C |
A |
5: 120,738,556 (GRCm39) |
Q125K |
probably benign |
Het |
Lpin2 |
T |
A |
17: 71,553,413 (GRCm39) |
D812E |
probably damaging |
Het |
Ltb4r2 |
T |
A |
14: 55,999,962 (GRCm39) |
|
probably null |
Het |
Morc2a |
T |
C |
11: 3,622,376 (GRCm39) |
|
probably null |
Het |
Myh1 |
A |
T |
11: 67,099,890 (GRCm39) |
N600I |
possibly damaging |
Het |
Nedd9 |
T |
A |
13: 41,465,584 (GRCm39) |
K685N |
probably damaging |
Het |
Or10aa3 |
A |
G |
1: 173,878,535 (GRCm39) |
I199V |
probably benign |
Het |
Otogl |
A |
C |
10: 107,698,165 (GRCm39) |
V735G |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 81,964,656 (GRCm39) |
Y274* |
probably null |
Het |
Pias1 |
A |
T |
9: 62,826,706 (GRCm39) |
I252N |
probably damaging |
Het |
Pitpnm3 |
T |
C |
11: 71,942,755 (GRCm39) |
D844G |
probably null |
Het |
Satb2 |
G |
T |
1: 56,884,880 (GRCm39) |
S348* |
probably null |
Het |
Sfxn1 |
T |
A |
13: 54,247,048 (GRCm39) |
V180D |
probably damaging |
Het |
Slc35g3 |
A |
T |
11: 69,651,109 (GRCm39) |
V314D |
probably damaging |
Het |
Tmem200c |
C |
A |
17: 69,149,101 (GRCm39) |
D561E |
probably benign |
Het |
Usp53 |
T |
A |
3: 122,757,935 (GRCm39) |
Q69L |
probably benign |
Het |
|
Other mutations in 4921539E11Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00809:4921539E11Rik
|
APN |
4 |
103,092,983 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00864:4921539E11Rik
|
APN |
4 |
103,092,895 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01951:4921539E11Rik
|
APN |
4 |
103,092,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02477:4921539E11Rik
|
APN |
4 |
103,127,943 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02606:4921539E11Rik
|
APN |
4 |
103,099,978 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03210:4921539E11Rik
|
APN |
4 |
103,141,635 (GRCm39) |
missense |
probably benign |
0.01 |
BB004:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
BB014:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
R0441:4921539E11Rik
|
UTSW |
4 |
103,092,689 (GRCm39) |
intron |
probably benign |
|
R0455:4921539E11Rik
|
UTSW |
4 |
103,088,180 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0504:4921539E11Rik
|
UTSW |
4 |
103,128,057 (GRCm39) |
splice site |
probably benign |
|
R0636:4921539E11Rik
|
UTSW |
4 |
103,088,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R0766:4921539E11Rik
|
UTSW |
4 |
103,127,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R0799:4921539E11Rik
|
UTSW |
4 |
103,100,101 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1312:4921539E11Rik
|
UTSW |
4 |
103,127,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R1713:4921539E11Rik
|
UTSW |
4 |
103,127,964 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1783:4921539E11Rik
|
UTSW |
4 |
103,088,286 (GRCm39) |
missense |
probably damaging |
0.99 |
R1978:4921539E11Rik
|
UTSW |
4 |
103,127,961 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3735:4921539E11Rik
|
UTSW |
4 |
103,123,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R4821:4921539E11Rik
|
UTSW |
4 |
103,092,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R5274:4921539E11Rik
|
UTSW |
4 |
103,092,856 (GRCm39) |
missense |
probably benign |
0.22 |
R5275:4921539E11Rik
|
UTSW |
4 |
103,092,856 (GRCm39) |
missense |
probably benign |
0.22 |
R5431:4921539E11Rik
|
UTSW |
4 |
103,128,045 (GRCm39) |
missense |
probably benign |
0.00 |
R5449:4921539E11Rik
|
UTSW |
4 |
103,123,579 (GRCm39) |
missense |
probably benign |
|
R6049:4921539E11Rik
|
UTSW |
4 |
103,088,520 (GRCm39) |
missense |
probably benign |
0.05 |
R6277:4921539E11Rik
|
UTSW |
4 |
103,088,668 (GRCm39) |
nonsense |
probably null |
|
R6518:4921539E11Rik
|
UTSW |
4 |
103,123,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R6602:4921539E11Rik
|
UTSW |
4 |
103,112,769 (GRCm39) |
missense |
probably benign |
0.36 |
R6992:4921539E11Rik
|
UTSW |
4 |
103,099,990 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7575:4921539E11Rik
|
UTSW |
4 |
103,088,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7927:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
R8130:4921539E11Rik
|
UTSW |
4 |
103,092,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R8461:4921539E11Rik
|
UTSW |
4 |
103,112,712 (GRCm39) |
missense |
probably benign |
0.01 |
R8714:4921539E11Rik
|
UTSW |
4 |
103,100,093 (GRCm39) |
missense |
probably benign |
0.10 |
R8798:4921539E11Rik
|
UTSW |
4 |
103,123,574 (GRCm39) |
start gained |
probably benign |
|
R9458:4921539E11Rik
|
UTSW |
4 |
103,141,608 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9462:4921539E11Rik
|
UTSW |
4 |
103,092,964 (GRCm39) |
missense |
probably benign |
0.08 |
R9598:4921539E11Rik
|
UTSW |
4 |
103,088,604 (GRCm39) |
missense |
probably benign |
0.03 |
R9643:4921539E11Rik
|
UTSW |
4 |
103,092,666 (GRCm39) |
missense |
unknown |
|
R9709:4921539E11Rik
|
UTSW |
4 |
103,092,678 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAGGAAGCCCACTAGCTGAC -3'
(R):5'- GCCACTATGCCAGAAGTTTTC -3'
Sequencing Primer
(F):5'- ACTAGCTGACCAGTCTGGG -3'
(R):5'- CCTTTGGAAGAACAGTCAGTGCTC -3'
|
Posted On |
2018-06-22 |