Incidental Mutation 'R6227:4921504E06Rik'
ID |
504381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4921504E06Rik
|
Ensembl Gene |
ENSMUSG00000026734 |
Gene Name |
RIKEN cDNA 4921504E06 gene |
Synonyms |
|
MMRRC Submission |
044398-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R6227 (G1)
|
Quality Score |
209.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
19467648-19558721 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 19558581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058720
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062060]
|
AlphaFold |
Q8CET2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000062060
|
SMART Domains |
Protein: ENSMUSP00000058720 Gene: ENSMUSG00000026734
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
Pfam:DUF4709
|
36 |
145 |
1e-45 |
PFAM |
coiled coil region
|
165 |
257 |
N/A |
INTRINSIC |
low complexity region
|
366 |
386 |
N/A |
INTRINSIC |
coiled coil region
|
417 |
463 |
N/A |
INTRINSIC |
Pfam:DUF4724
|
477 |
559 |
3.9e-24 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131199
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (61/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,930,743 (GRCm39) |
Y205* |
probably null |
Het |
Adgrf1 |
A |
G |
17: 43,621,164 (GRCm39) |
D467G |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,510,841 (GRCm39) |
D550G |
possibly damaging |
Het |
Bicd1 |
T |
A |
6: 149,414,674 (GRCm39) |
Y462* |
probably null |
Het |
Cfap97 |
T |
C |
8: 46,644,769 (GRCm39) |
|
probably null |
Het |
Csf1r |
T |
A |
18: 61,258,900 (GRCm39) |
Y706* |
probably null |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dst |
A |
G |
1: 34,233,621 (GRCm39) |
D3443G |
probably benign |
Het |
Fktn |
C |
T |
4: 53,731,136 (GRCm39) |
A96V |
probably benign |
Het |
Inppl1 |
G |
A |
7: 101,473,506 (GRCm39) |
T1048M |
possibly damaging |
Het |
Itga2 |
T |
C |
13: 114,976,097 (GRCm39) |
T1092A |
probably benign |
Het |
Lactbl1 |
C |
A |
4: 136,365,229 (GRCm39) |
A527E |
probably benign |
Het |
Miga1 |
C |
T |
3: 151,984,586 (GRCm39) |
A510T |
probably benign |
Het |
Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
Naca |
T |
G |
10: 127,879,785 (GRCm39) |
|
probably benign |
Het |
Or51f5 |
A |
T |
7: 102,423,883 (GRCm39) |
I51F |
probably damaging |
Het |
Or52l1 |
T |
C |
7: 104,829,917 (GRCm39) |
Y216C |
probably damaging |
Het |
Or6c69 |
T |
A |
10: 129,747,536 (GRCm39) |
T204S |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,783,862 (GRCm39) |
M1986K |
probably damaging |
Het |
Pex6 |
T |
A |
17: 47,023,034 (GRCm39) |
D203E |
probably benign |
Het |
Rlbp1 |
T |
C |
7: 79,029,876 (GRCm39) |
N119S |
probably benign |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Rusc1 |
T |
A |
3: 88,999,048 (GRCm39) |
T245S |
probably benign |
Het |
Slc26a5 |
A |
T |
5: 22,026,095 (GRCm39) |
C378S |
probably damaging |
Het |
Smtn |
A |
G |
11: 3,477,624 (GRCm39) |
|
probably benign |
Het |
Tes3-ps |
T |
C |
13: 49,647,516 (GRCm39) |
C131R |
probably damaging |
Het |
Thbs4 |
T |
C |
13: 92,911,190 (GRCm39) |
E331G |
probably null |
Het |
Tlr4 |
T |
C |
4: 66,758,832 (GRCm39) |
Y542H |
probably benign |
Het |
Trf |
G |
A |
9: 103,107,504 (GRCm39) |
|
probably benign |
Het |
Trim75 |
T |
A |
8: 65,435,748 (GRCm39) |
H234L |
probably benign |
Het |
Zan |
T |
G |
5: 137,466,605 (GRCm39) |
R417S |
probably damaging |
Het |
Zfp213 |
T |
C |
17: 23,776,996 (GRCm39) |
T349A |
probably benign |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 4921504E06Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00776:4921504E06Rik
|
APN |
2 |
19,545,182 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01590:4921504E06Rik
|
APN |
2 |
19,482,590 (GRCm39) |
splice site |
probably benign |
|
IGL02264:4921504E06Rik
|
APN |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
IGL02591:4921504E06Rik
|
APN |
2 |
19,485,249 (GRCm39) |
missense |
probably benign |
0.26 |
H8786:4921504E06Rik
|
UTSW |
2 |
19,498,905 (GRCm39) |
missense |
probably benign |
0.04 |
R0545:4921504E06Rik
|
UTSW |
2 |
19,547,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R0762:4921504E06Rik
|
UTSW |
2 |
19,482,667 (GRCm39) |
missense |
probably damaging |
0.97 |
R1325:4921504E06Rik
|
UTSW |
2 |
19,499,938 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1456:4921504E06Rik
|
UTSW |
2 |
19,485,731 (GRCm39) |
critical splice donor site |
probably null |
|
R2013:4921504E06Rik
|
UTSW |
2 |
19,545,124 (GRCm39) |
missense |
probably benign |
0.01 |
R2089:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R2091:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R2091:4921504E06Rik
|
UTSW |
2 |
19,522,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R3922:4921504E06Rik
|
UTSW |
2 |
19,485,371 (GRCm39) |
missense |
probably benign |
0.00 |
R3982:4921504E06Rik
|
UTSW |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
R3983:4921504E06Rik
|
UTSW |
2 |
19,547,180 (GRCm39) |
splice site |
probably null |
|
R4074:4921504E06Rik
|
UTSW |
2 |
19,485,401 (GRCm39) |
missense |
probably damaging |
0.96 |
R4995:4921504E06Rik
|
UTSW |
2 |
19,498,995 (GRCm39) |
nonsense |
probably null |
|
R5303:4921504E06Rik
|
UTSW |
2 |
19,521,110 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5308:4921504E06Rik
|
UTSW |
2 |
19,528,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R6253:4921504E06Rik
|
UTSW |
2 |
19,528,929 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6268:4921504E06Rik
|
UTSW |
2 |
19,545,219 (GRCm39) |
missense |
probably benign |
0.10 |
R6496:4921504E06Rik
|
UTSW |
2 |
19,545,217 (GRCm39) |
missense |
probably benign |
0.17 |
R7196:4921504E06Rik
|
UTSW |
2 |
19,498,806 (GRCm39) |
missense |
probably benign |
0.00 |
R7472:4921504E06Rik
|
UTSW |
2 |
19,545,219 (GRCm39) |
missense |
probably benign |
0.10 |
R8146:4921504E06Rik
|
UTSW |
2 |
19,498,814 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8150:4921504E06Rik
|
UTSW |
2 |
19,538,635 (GRCm39) |
missense |
probably benign |
0.10 |
R8534:4921504E06Rik
|
UTSW |
2 |
19,545,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R9067:4921504E06Rik
|
UTSW |
2 |
19,522,493 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:4921504E06Rik
|
UTSW |
2 |
19,485,343 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGAAATATTTAACAGGCCCTGTG -3'
(R):5'- TTTCTCTGGGAGTCGCCATG -3'
Sequencing Primer
(F):5'- GAGTAGGCACAATTAGCTACTGTCC -3'
(R):5'- GGCAACGGACTCTGGCTTTG -3'
|
Posted On |
2018-02-28 |