Incidental Mutation 'IGL02009:Rpl3l'
| ID |
182292 |
| 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 # |
IGL02009
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24946800-24955117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24951407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 103
(K103E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045186]
[ENSMUST00000101800]
[ENSMUST00000115262]
[ENSMUST00000170239]
[ENSMUST00000183214]
|
| AlphaFold |
E9PWZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045186
|
| SMART Domains |
Protein: ENSMUSP00000038326
Gene: ENSMUSG00000002500
| 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: K155E
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000129325
Gene: ENSMUSG00000002500
AA Change: K155E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
1 |
375 |
1.2e-178 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183214
AA Change: K103E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138489
Gene: ENSMUSG00000002500
AA Change: K103E
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a3 |
T |
C |
7: 66,051,789 (GRCm39) |
D388G |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,757,714 (GRCm39) |
Q803K |
probably damaging |
Het |
| Arrdc3 |
A |
G |
13: 81,041,499 (GRCm39) |
N180S |
probably benign |
Het |
| Atp11b |
G |
A |
3: 35,868,301 (GRCm39) |
E458K |
probably benign |
Het |
| Bend6 |
G |
A |
1: 33,901,827 (GRCm39) |
A185V |
probably benign |
Het |
| Ccdc121 |
C |
T |
5: 31,644,835 (GRCm39) |
T196I |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,450,670 (GRCm39) |
D632G |
probably damaging |
Het |
| Clec4a1 |
A |
T |
6: 122,909,175 (GRCm39) |
H181L |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,085,224 (GRCm39) |
D387E |
probably benign |
Het |
| Colq |
G |
A |
14: 31,257,599 (GRCm39) |
S256F |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 76,996,817 (GRCm39) |
T92A |
possibly damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,499,187 (GRCm39) |
Y252H |
probably damaging |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,854 (GRCm39) |
L344Q |
probably damaging |
Het |
| Fam83b |
A |
G |
9: 76,399,604 (GRCm39) |
Y500H |
probably damaging |
Het |
| Gapvd1 |
G |
A |
2: 34,594,203 (GRCm39) |
P949L |
probably damaging |
Het |
| Gp5 |
A |
G |
16: 30,128,482 (GRCm39) |
I64T |
probably benign |
Het |
| Il31ra |
A |
G |
13: 112,670,401 (GRCm39) |
V248A |
probably damaging |
Het |
| Kdm4a |
C |
T |
4: 118,017,366 (GRCm39) |
A567T |
probably benign |
Het |
| Kpna7 |
T |
C |
5: 144,930,888 (GRCm39) |
|
probably null |
Het |
| Lrrc8c |
G |
A |
5: 105,755,257 (GRCm39) |
R344H |
probably damaging |
Het |
| Man1a |
G |
A |
10: 53,801,621 (GRCm39) |
L413F |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,591,978 (GRCm39) |
D67E |
probably damaging |
Het |
| Mkln1 |
G |
A |
6: 31,426,455 (GRCm39) |
S243N |
probably benign |
Het |
| Mmp19 |
T |
A |
10: 128,634,356 (GRCm39) |
M299K |
probably benign |
Het |
| Msantd2 |
T |
C |
9: 37,434,686 (GRCm39) |
F309L |
possibly damaging |
Het |
| Mstn |
A |
G |
1: 53,101,309 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,408 (GRCm39) |
I184R |
probably benign |
Het |
| Or5d43 |
C |
T |
2: 88,105,056 (GRCm39) |
M112I |
probably benign |
Het |
| Or9m1b |
G |
T |
2: 87,837,117 (GRCm39) |
Q2K |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,862,582 (GRCm39) |
L563Q |
probably benign |
Het |
| Rpap1 |
A |
G |
2: 119,610,594 (GRCm39) |
S162P |
possibly damaging |
Het |
| Slc45a1 |
A |
T |
4: 150,722,447 (GRCm39) |
V479E |
probably damaging |
Het |
| Themis2 |
A |
T |
4: 132,512,753 (GRCm39) |
L491Q |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,600,714 (GRCm39) |
I671L |
possibly damaging |
Het |
| Vmn2r6 |
C |
A |
3: 64,445,323 (GRCm39) |
V712L |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,133,752 (GRCm39) |
D270G |
possibly 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 |
|
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 |
2014-05-07 |
Incidental Mutation