Incidental Mutation 'IGL03309:Rpl3l'
ID |
416493 |
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: 0.136)
|
Stock # |
IGL03309
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24946800-24955117 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24954998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 398
(K398E)
|
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: K231E
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000038326 Gene: ENSMUSG00000002500 AA Change: K231E
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 |
possibly damaging
Transcript: ENSMUST00000170239
AA Change: K398E
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000129325 Gene: ENSMUSG00000002500 AA Change: K398E
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
G |
3: 59,947,303 (GRCm39) |
T334A |
possibly damaging |
Het |
Armc9 |
A |
G |
1: 86,202,155 (GRCm39) |
E771G |
possibly damaging |
Het |
Cd207 |
G |
T |
6: 83,654,735 (GRCm39) |
T16K |
possibly damaging |
Het |
Cd44 |
C |
T |
2: 102,644,522 (GRCm39) |
E421K |
probably damaging |
Het |
Cfap221 |
A |
G |
1: 119,862,331 (GRCm39) |
Y584H |
probably damaging |
Het |
Clock |
A |
G |
5: 76,379,241 (GRCm39) |
|
probably null |
Het |
Clpx |
T |
G |
9: 65,229,974 (GRCm39) |
L474R |
probably damaging |
Het |
Cntd1 |
T |
C |
11: 101,175,590 (GRCm39) |
V143A |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,381,035 (GRCm39) |
V877A |
probably damaging |
Het |
Dlx6 |
G |
T |
6: 6,867,289 (GRCm39) |
M158I |
possibly damaging |
Het |
Fank1 |
A |
G |
7: 133,463,902 (GRCm39) |
T33A |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,038,637 (GRCm39) |
L828P |
probably damaging |
Het |
Fh1 |
A |
T |
1: 175,431,609 (GRCm39) |
S426T |
probably benign |
Het |
Gabrg3 |
G |
T |
7: 56,632,433 (GRCm39) |
Q172K |
probably damaging |
Het |
Glipr1l1 |
A |
G |
10: 111,908,141 (GRCm39) |
|
probably benign |
Het |
Hypk |
T |
A |
2: 121,288,673 (GRCm39) |
L113* |
probably null |
Het |
Hypk |
G |
T |
2: 121,288,674 (GRCm39) |
L113F |
probably damaging |
Het |
Ipo5 |
G |
A |
14: 121,157,416 (GRCm39) |
V85I |
probably benign |
Het |
Kif1a |
A |
T |
1: 92,986,579 (GRCm39) |
Y575* |
probably null |
Het |
Morf4l1 |
T |
A |
9: 89,985,798 (GRCm39) |
E60V |
probably benign |
Het |
Or52ac1 |
A |
G |
7: 104,246,248 (GRCm39) |
F47L |
probably benign |
Het |
Or6c6 |
A |
T |
10: 129,187,178 (GRCm39) |
T249S |
probably benign |
Het |
Parp4 |
A |
T |
14: 56,825,265 (GRCm39) |
T130S |
probably benign |
Het |
Prkd1 |
A |
G |
12: 50,435,207 (GRCm39) |
Y507H |
probably damaging |
Het |
Psme2b |
A |
C |
11: 48,836,626 (GRCm39) |
|
probably null |
Het |
Rbm44 |
T |
C |
1: 91,096,562 (GRCm39) |
|
probably null |
Het |
Rngtt |
C |
A |
4: 33,339,091 (GRCm39) |
R299S |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,994,357 (GRCm39) |
S1308P |
possibly damaging |
Het |
Scube3 |
C |
T |
17: 28,383,331 (GRCm39) |
R374* |
probably null |
Het |
Srcap |
A |
G |
7: 127,129,965 (GRCm39) |
T616A |
probably damaging |
Het |
Stk3 |
G |
A |
15: 35,099,697 (GRCm39) |
|
probably benign |
Het |
Tas2r124 |
A |
T |
6: 132,731,898 (GRCm39) |
D69V |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
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 |
|
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 |
2016-08-02 |