Incidental Mutation 'R3844:Rpl3l'
| ID |
277297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpl3l
|
| Ensembl Gene |
ENSMUSG00000002500 |
| Gene Name |
ribosomal protein L3-like |
| Synonyms |
1110057H16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R3844 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24946800-24955117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24952916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 292
(H292R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045186]
[ENSMUST00000101800]
[ENSMUST00000115262]
[ENSMUST00000170239]
[ENSMUST00000183214]
|
| AlphaFold |
E9PWZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045186
AA Change: H125R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000038326
Gene: ENSMUSG00000002500
AA Change: H125R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
1 |
181 |
5.1e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101800
|
| SMART Domains |
Protein: ENSMUSP00000099300
Gene: ENSMUSG00000075705
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SelR
|
5 |
105 |
9.7e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115262
|
| SMART Domains |
Protein: ENSMUSP00000110917
Gene: ENSMUSG00000075705
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SelR
|
7 |
106 |
6.9e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170239
AA Change: H292R
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000129325
Gene: ENSMUSG00000002500
AA Change: H292R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
1 |
375 |
1.2e-178 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183214
|
| SMART Domains |
Protein: ENSMUSP00000138489
Gene: ENSMUSG00000002500
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
1 |
133 |
1.1e-43 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730071L15Rik |
A |
T |
11: 6,150,032 (GRCm39) |
R2* |
probably null |
Het |
| Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
| Adam5 |
T |
A |
8: 25,303,426 (GRCm39) |
D167V |
probably benign |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Aqp11 |
T |
A |
7: 97,387,046 (GRCm39) |
E50V |
probably damaging |
Het |
| Arid4b |
C |
T |
13: 14,361,645 (GRCm39) |
S703L |
probably damaging |
Het |
| Ccl25 |
T |
G |
8: 4,404,183 (GRCm39) |
V179G |
possibly damaging |
Het |
| Clk2 |
A |
G |
3: 89,077,710 (GRCm39) |
N222S |
probably benign |
Het |
| Col13a1 |
C |
T |
10: 61,685,988 (GRCm39) |
G668D |
unknown |
Het |
| Col20a1 |
A |
G |
2: 180,634,242 (GRCm39) |
E69G |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,959,257 (GRCm39) |
H172Y |
probably benign |
Het |
| Dock8 |
T |
G |
19: 25,042,794 (GRCm39) |
Y125* |
probably null |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Fars2 |
T |
C |
13: 36,389,084 (GRCm39) |
F191S |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,392,790 (GRCm39) |
V888A |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,648,733 (GRCm39) |
H1392L |
possibly damaging |
Het |
| Fsip2 |
C |
T |
2: 82,819,950 (GRCm39) |
H5228Y |
possibly damaging |
Het |
| Galnt14 |
A |
G |
17: 74,016,924 (GRCm39) |
|
probably null |
Het |
| Grm8 |
A |
T |
6: 27,429,507 (GRCm39) |
N462K |
possibly damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,789 (GRCm39) |
E410G |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,158,513 (GRCm39) |
I77F |
probably damaging |
Het |
| Klhl11 |
A |
T |
11: 100,363,133 (GRCm39) |
M141K |
possibly damaging |
Het |
| Lactbl1 |
A |
G |
4: 136,365,271 (GRCm39) |
H541R |
possibly damaging |
Het |
| Mylk |
A |
G |
16: 34,742,247 (GRCm39) |
M920V |
probably benign |
Het |
| Or2w1b |
A |
G |
13: 21,300,233 (GRCm39) |
T124A |
possibly damaging |
Het |
| Piwil4 |
T |
A |
9: 14,641,256 (GRCm39) |
T179S |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,313,717 (GRCm39) |
L1479P |
possibly damaging |
Het |
| Rps6ka4 |
C |
A |
19: 6,815,171 (GRCm39) |
E202* |
probably null |
Het |
| Rsph14 |
T |
C |
10: 74,867,107 (GRCm39) |
D13G |
possibly damaging |
Het |
| Sri |
A |
G |
5: 8,114,576 (GRCm39) |
D177G |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,938,365 (GRCm39) |
V1437A |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,471,926 (GRCm39) |
R523G |
probably damaging |
Het |
| Tm9sf3 |
A |
T |
19: 41,205,555 (GRCm39) |
L561M |
possibly damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,646,309 (GRCm39) |
D1417Y |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,186,437 (GRCm39) |
S648L |
probably damaging |
Het |
| Zfp827 |
T |
A |
8: 79,863,248 (GRCm39) |
L69Q |
probably damaging |
Het |
|
| Other mutations in Rpl3l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Rpl3l
|
APN |
17 |
24,954,445 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01364:Rpl3l
|
APN |
17 |
24,951,404 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02009:Rpl3l
|
APN |
17 |
24,951,407 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02422:Rpl3l
|
APN |
17 |
24,952,962 (GRCm39) |
nonsense |
probably null |
|
|
IGL03309:Rpl3l
|
APN |
17 |
24,954,998 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
stringer
|
UTSW |
17 |
24,954,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Rpl3l
|
UTSW |
17 |
24,954,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Rpl3l
|
UTSW |
17 |
24,949,845 (GRCm39) |
missense |
probably benign |
|
|
R1466:Rpl3l
|
UTSW |
17 |
24,949,845 (GRCm39) |
missense |
probably benign |
|
|
R1782:Rpl3l
|
UTSW |
17 |
24,952,430 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2019:Rpl3l
|
UTSW |
17 |
24,954,490 (GRCm39) |
unclassified |
probably benign |
|
|
R2509:Rpl3l
|
UTSW |
17 |
24,951,360 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4574:Rpl3l
|
UTSW |
17 |
24,952,984 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4675:Rpl3l
|
UTSW |
17 |
24,952,584 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5097:Rpl3l
|
UTSW |
17 |
24,952,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Rpl3l
|
UTSW |
17 |
24,951,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Rpl3l
|
UTSW |
17 |
24,951,429 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6073:Rpl3l
|
UTSW |
17 |
24,949,861 (GRCm39) |
missense |
probably benign |
|
|
R6295:Rpl3l
|
UTSW |
17 |
24,952,966 (GRCm39) |
missense |
probably benign |
|
|
R7624:Rpl3l
|
UTSW |
17 |
24,951,401 (GRCm39) |
missense |
probably benign |
|
|
R7655:Rpl3l
|
UTSW |
17 |
24,949,960 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7656:Rpl3l
|
UTSW |
17 |
24,949,960 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7834:Rpl3l
|
UTSW |
17 |
24,952,437 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8527:Rpl3l
|
UTSW |
17 |
24,954,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Rpl3l
|
UTSW |
17 |
24,954,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8792:Rpl3l
|
UTSW |
17 |
24,947,447 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8840:Rpl3l
|
UTSW |
17 |
24,952,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8867:Rpl3l
|
UTSW |
17 |
24,954,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Rpl3l
|
UTSW |
17 |
24,947,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9258:Rpl3l
|
UTSW |
17 |
24,951,447 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9436:Rpl3l
|
UTSW |
17 |
24,947,300 (GRCm39) |
nonsense |
probably null |
|
|
R9651:Rpl3l
|
UTSW |
17 |
24,947,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Rpl3l
|
UTSW |
17 |
24,947,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rpl3l
|
UTSW |
17 |
24,947,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGTACAGAGCTGAACAAG -3'
(R):5'- AGAAAACACATGGAGCTCTTCAGG -3'
Sequencing Primer
(F):5'- AAGGTGTGTCCATAACTTTGAGGAC -3'
(R):5'- ATGGAGCTCTTCAGGCAGGG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation