Incidental Mutation 'R2471:4930563M21Rik'
| ID |
253096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930563M21Rik
|
| Ensembl Gene |
ENSMUSG00000050702 |
| Gene Name |
RIKEN cDNA 4930563M21 gene |
| Synonyms |
Rfpl3s |
| MMRRC Submission |
040403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R2471 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
55869873-55917834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55888147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 390
(M390K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060468]
[ENSMUST00000217105]
|
| AlphaFold |
E9QAA9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060468
AA Change: M9K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000051794
Gene: ENSMUSG00000050702
AA Change: M9K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217105
AA Change: M390K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicra |
A |
G |
7: 15,706,257 (GRCm39) |
S1395P |
probably benign |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,776 (GRCm39) |
D907V |
probably damaging |
Het |
| Cstl1 |
T |
A |
2: 148,593,041 (GRCm39) |
Y65* |
probably null |
Het |
| Dnajc1 |
T |
C |
2: 18,224,627 (GRCm39) |
I213V |
possibly damaging |
Het |
| Emcn |
C |
T |
3: 137,109,772 (GRCm39) |
T138M |
probably damaging |
Het |
| F3 |
G |
T |
3: 121,518,689 (GRCm39) |
W51L |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,040,192 (GRCm39) |
Y41C |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,856 (GRCm39) |
D230E |
probably damaging |
Het |
| Gimap7 |
G |
A |
6: 48,700,986 (GRCm39) |
V191M |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,531 (GRCm39) |
E230G |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,247,307 (GRCm39) |
E340G |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,903,620 (GRCm39) |
I62V |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,067,244 (GRCm39) |
K588R |
possibly damaging |
Het |
| Mctp2 |
T |
A |
7: 71,810,909 (GRCm39) |
K52* |
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,309,756 (GRCm39) |
F310L |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,250,501 (GRCm39) |
S605F |
probably damaging |
Het |
| Or2w1b |
A |
T |
13: 21,300,599 (GRCm39) |
T246S |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,181,944 (GRCm39) |
S212R |
possibly damaging |
Het |
| Or5b97 |
G |
A |
19: 12,878,679 (GRCm39) |
T155I |
probably benign |
Het |
| Pcdh20 |
T |
G |
14: 88,704,672 (GRCm39) |
E876A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,768,370 (GRCm39) |
A2215V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,210,327 (GRCm38) |
Y128H |
probably damaging |
Het |
| Sigirr |
A |
G |
7: 140,672,510 (GRCm39) |
L204S |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,540,706 (GRCm39) |
Y187F |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,312 (GRCm39) |
R86W |
probably null |
Het |
| Smc1b |
T |
C |
15: 84,976,218 (GRCm39) |
K830E |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,872,642 (GRCm39) |
N427D |
possibly damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,289 (GRCm39) |
F48L |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,474,272 (GRCm39) |
E319G |
probably damaging |
Het |
| Try10 |
T |
C |
6: 41,333,680 (GRCm39) |
S142P |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,644 (GRCm39) |
T626A |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,950 (GRCm39) |
E602G |
possibly damaging |
Het |
|
| Other mutations in 4930563M21Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02721:4930563M21Rik
|
APN |
9 |
55,888,124 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3831:4930563M21Rik
|
UTSW |
9 |
55,880,992 (GRCm39) |
missense |
unknown |
|
|
R4237:4930563M21Rik
|
UTSW |
9 |
55,888,126 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4238:4930563M21Rik
|
UTSW |
9 |
55,888,126 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4239:4930563M21Rik
|
UTSW |
9 |
55,888,126 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5412:4930563M21Rik
|
UTSW |
9 |
55,886,036 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6191:4930563M21Rik
|
UTSW |
9 |
55,909,807 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6368:4930563M21Rik
|
UTSW |
9 |
55,897,416 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6415:4930563M21Rik
|
UTSW |
9 |
55,881,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6700:4930563M21Rik
|
UTSW |
9 |
55,881,140 (GRCm39) |
missense |
unknown |
|
|
R6727:4930563M21Rik
|
UTSW |
9 |
55,896,760 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7346:4930563M21Rik
|
UTSW |
9 |
55,914,587 (GRCm39) |
missense |
unknown |
|
|
R7470:4930563M21Rik
|
UTSW |
9 |
55,898,622 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7499:4930563M21Rik
|
UTSW |
9 |
55,907,186 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7609:4930563M21Rik
|
UTSW |
9 |
55,896,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7616:4930563M21Rik
|
UTSW |
9 |
55,896,738 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7662:4930563M21Rik
|
UTSW |
9 |
55,885,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8018:4930563M21Rik
|
UTSW |
9 |
55,880,991 (GRCm39) |
missense |
unknown |
|
|
R8057:4930563M21Rik
|
UTSW |
9 |
55,916,564 (GRCm39) |
missense |
unknown |
|
|
R8077:4930563M21Rik
|
UTSW |
9 |
55,895,250 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8782:4930563M21Rik
|
UTSW |
9 |
55,910,242 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9178:4930563M21Rik
|
UTSW |
9 |
55,880,992 (GRCm39) |
missense |
unknown |
|
|
R9214:4930563M21Rik
|
UTSW |
9 |
55,890,653 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9293:4930563M21Rik
|
UTSW |
9 |
55,916,568 (GRCm39) |
missense |
unknown |
|
|
R9441:4930563M21Rik
|
UTSW |
9 |
55,917,776 (GRCm39) |
missense |
unknown |
|
|
R9602:4930563M21Rik
|
UTSW |
9 |
55,910,261 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9667:4930563M21Rik
|
UTSW |
9 |
55,890,645 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTCGTCCAGTGAGAACCAC -3'
(R):5'- GGTGCCTGTCATCTTCAAGAATAC -3'
Sequencing Primer
(F):5'- TGTACTGGGGGAACAAACTTGTC -3'
(R):5'- CCTGTCATCTTCAAGAATACTGAATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation