Incidental Mutation 'R3982:4921504E06Rik'
ID |
345293 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4921504E06Rik
|
Ensembl Gene |
ENSMUSG00000026734 |
Gene Name |
RIKEN cDNA 4921504E06 gene |
Synonyms |
|
MMRRC Submission |
041608-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
R3982 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
19467648-19558721 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 19547180 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
T |
C |
10: 14,324,589 (GRCm39) |
N445S |
probably benign |
Het |
Adgrl3 |
A |
G |
5: 81,842,373 (GRCm39) |
T902A |
possibly damaging |
Het |
Atf4 |
T |
C |
15: 80,141,069 (GRCm39) |
V153A |
probably benign |
Het |
Bsn |
T |
C |
9: 107,984,365 (GRCm39) |
T3230A |
unknown |
Het |
Cadps2 |
A |
G |
6: 23,263,530 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
Cth |
A |
T |
3: 157,619,334 (GRCm39) |
L163* |
probably null |
Het |
Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
Frmd6 |
T |
C |
12: 70,934,608 (GRCm39) |
L269P |
probably damaging |
Het |
Gpr62 |
G |
A |
9: 106,342,085 (GRCm39) |
A281V |
probably benign |
Het |
Hapln1 |
T |
A |
13: 89,753,560 (GRCm39) |
F242Y |
probably benign |
Het |
Ighv1-39 |
A |
T |
12: 114,878,251 (GRCm39) |
S107T |
possibly damaging |
Het |
Itga8 |
A |
G |
2: 12,305,774 (GRCm39) |
V72A |
possibly damaging |
Het |
Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
Klre1 |
T |
A |
6: 129,560,101 (GRCm39) |
C124* |
probably null |
Het |
Lrrk2 |
T |
A |
15: 91,593,487 (GRCm39) |
M482K |
probably benign |
Het |
Man2b2 |
T |
C |
5: 36,971,164 (GRCm39) |
N734S |
probably benign |
Het |
Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
Mdga1 |
C |
A |
17: 30,150,238 (GRCm39) |
A125S |
unknown |
Het |
Mmd2 |
T |
C |
5: 142,550,554 (GRCm39) |
Y228C |
probably damaging |
Het |
Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
Nifk |
T |
A |
1: 118,257,282 (GRCm39) |
S138R |
possibly damaging |
Het |
Nlrp4b |
T |
C |
7: 10,448,358 (GRCm39) |
V187A |
possibly damaging |
Het |
Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
Pigo |
A |
T |
4: 43,023,482 (GRCm39) |
S231T |
probably benign |
Het |
Pik3cb |
G |
A |
9: 98,928,654 (GRCm39) |
T867M |
probably benign |
Het |
Plag1 |
A |
T |
4: 3,904,055 (GRCm39) |
S379T |
probably damaging |
Het |
Polg2 |
G |
A |
11: 106,670,028 (GRCm39) |
R81* |
probably null |
Het |
Prpf4b |
C |
T |
13: 35,068,196 (GRCm39) |
|
probably benign |
Het |
Ptprq |
T |
A |
10: 107,379,257 (GRCm39) |
I1981F |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
Usp24 |
G |
A |
4: 106,245,080 (GRCm39) |
E1307K |
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,578,948 (GRCm39) |
M807K |
probably damaging |
Het |
Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly damaging |
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 |
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 |
R6227:4921504E06Rik
|
UTSW |
2 |
19,558,581 (GRCm39) |
splice site |
probably null |
|
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'- CCCCAAAGACCTTCATGTTTTG -3'
(R):5'- TACCTCCAAATATGATTGCTTGCC -3'
Sequencing Primer
(F):5'- CCAAAGACCTTCATGTTTTGAAACTG -3'
(R):5'- CCAAATATGATTGCTTGCCTTTTTC -3'
|
Posted On |
2015-09-25 |