Incidental Mutation 'IGL00984:Rpl3l'
ID |
29369 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00984
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24946800-24955117 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24954445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 336
(C336R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045186]
[ENSMUST00000101800]
[ENSMUST00000115262]
[ENSMUST00000170239]
[ENSMUST00000183214]
|
AlphaFold |
E9PWZ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045186
AA Change: C169R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000038326 Gene: ENSMUSG00000002500 AA Change: C169R
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 damaging
Transcript: ENSMUST00000170239
AA Change: C336R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129325 Gene: ENSMUSG00000002500 AA Change: C336R
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 |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
T |
A |
8: 43,973,410 (GRCm39) |
N531Y |
possibly damaging |
Het |
Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
Alppl2 |
T |
A |
1: 87,016,534 (GRCm39) |
H180L |
probably damaging |
Het |
Atp10a |
T |
C |
7: 58,308,489 (GRCm39) |
V96A |
probably damaging |
Het |
Atp2c1 |
T |
A |
9: 105,295,778 (GRCm39) |
I649F |
probably damaging |
Het |
Atp6v1h |
A |
G |
1: 5,165,905 (GRCm39) |
Y125C |
probably damaging |
Het |
Cds2 |
T |
C |
2: 132,140,441 (GRCm39) |
V213A |
probably benign |
Het |
Csnk1a1 |
A |
G |
18: 61,708,624 (GRCm39) |
|
probably benign |
Het |
Ctdspl2 |
C |
T |
2: 121,799,767 (GRCm39) |
|
probably benign |
Het |
Dohh |
G |
A |
10: 81,223,756 (GRCm39) |
|
probably null |
Het |
Dst |
A |
T |
1: 34,295,401 (GRCm39) |
D5971V |
probably damaging |
Het |
Focad |
G |
T |
4: 88,263,022 (GRCm39) |
M1006I |
unknown |
Het |
Garin5b |
C |
T |
7: 4,760,526 (GRCm39) |
V729M |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,376,546 (GRCm39) |
D1322G |
probably damaging |
Het |
Mcm3ap |
G |
T |
10: 76,335,400 (GRCm39) |
S1274I |
probably damaging |
Het |
Mrpl42 |
C |
T |
10: 95,326,202 (GRCm39) |
V97I |
probably benign |
Het |
Or4p21 |
A |
T |
2: 88,276,539 (GRCm39) |
F248I |
probably damaging |
Het |
Pabpc6 |
A |
T |
17: 9,887,618 (GRCm39) |
L311H |
probably damaging |
Het |
Pdzrn3 |
A |
T |
6: 101,331,447 (GRCm39) |
S276T |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,176,796 (GRCm39) |
C383* |
probably null |
Het |
Pik3r6 |
A |
G |
11: 68,424,445 (GRCm39) |
D350G |
probably benign |
Het |
Ptcd1 |
C |
T |
5: 145,102,239 (GRCm39) |
V27I |
probably benign |
Het |
Ranbp2 |
A |
T |
10: 58,297,786 (GRCm39) |
R398* |
probably null |
Het |
Rxfp2 |
T |
C |
5: 149,990,597 (GRCm39) |
S443P |
probably benign |
Het |
Sec24b |
T |
C |
3: 129,814,295 (GRCm39) |
|
probably benign |
Het |
Septin11 |
T |
C |
5: 93,310,043 (GRCm39) |
M282T |
possibly damaging |
Het |
Syt16 |
C |
T |
12: 74,269,604 (GRCm39) |
Q148* |
probably null |
Het |
Timm23 |
A |
G |
14: 31,902,612 (GRCm39) |
I177T |
probably benign |
Het |
Treh |
A |
G |
9: 44,594,264 (GRCm39) |
|
probably benign |
Het |
Vmn1r71 |
A |
G |
7: 10,482,046 (GRCm39) |
V214A |
probably damaging |
Het |
Zfp715 |
G |
A |
7: 42,949,208 (GRCm39) |
P251S |
probably benign |
Het |
|
Other mutations in Rpl3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R3844:Rpl3l
|
UTSW |
17 |
24,952,916 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
|
Posted On |
2013-04-17 |