Incidental Mutation 'IGL01364:Rpl3l'
| ID |
75870 |
| 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 # |
IGL01364
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24946800-24955117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24951404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 154
(K154E)
|
| 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
|
| 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 |
probably benign
Transcript: ENSMUST00000170239
AA Change: K154E
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129325
Gene: ENSMUSG00000002500
AA Change: K154E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
1 |
375 |
1.2e-178 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183214
AA Change: K102E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000138489
Gene: ENSMUSG00000002500
AA Change: K102E
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
C |
A |
4: 40,181,380 (GRCm39) |
|
probably null |
Het |
| Acot6 |
T |
C |
12: 84,147,840 (GRCm39) |
V32A |
possibly damaging |
Het |
| Aff3 |
A |
T |
1: 38,574,762 (GRCm39) |
L73I |
probably damaging |
Het |
| Aldh1l2 |
C |
A |
10: 83,328,531 (GRCm39) |
D729Y |
probably damaging |
Het |
| Alox15 |
T |
C |
11: 70,235,992 (GRCm39) |
Q525R |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,747,677 (GRCm39) |
Y320H |
probably benign |
Het |
| Atxn3 |
C |
T |
12: 101,900,682 (GRCm39) |
|
probably benign |
Het |
| Caprin2 |
C |
A |
6: 148,774,526 (GRCm39) |
S262I |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,612,653 (GRCm39) |
|
probably null |
Het |
| Ccdc14 |
T |
A |
16: 34,543,583 (GRCm39) |
L647H |
probably damaging |
Het |
| Cd300lf |
T |
C |
11: 115,017,176 (GRCm39) |
D49G |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,308,081 (GRCm39) |
T1280A |
probably benign |
Het |
| Ddb1 |
T |
C |
19: 10,605,024 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 66,046,285 (GRCm39) |
Y88H |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,540,512 (GRCm39) |
T351A |
probably damaging |
Het |
| Evi2b |
T |
A |
11: 79,407,449 (GRCm39) |
Y42F |
probably benign |
Het |
| Fdps |
A |
T |
3: 89,001,577 (GRCm39) |
C274* |
probably null |
Het |
| Flnb |
A |
C |
14: 7,934,562 (GRCm38) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,306,643 (GRCm39) |
V917E |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,251,826 (GRCm39) |
Q854* |
probably null |
Het |
| Hmgxb3 |
T |
C |
18: 61,279,506 (GRCm39) |
Y769C |
probably damaging |
Het |
| Hps3 |
G |
T |
3: 20,057,469 (GRCm39) |
Q772K |
possibly damaging |
Het |
| Ifnab |
T |
C |
4: 88,608,987 (GRCm39) |
S160G |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,082,999 (GRCm39) |
E652G |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,397,716 (GRCm39) |
L255S |
probably damaging |
Het |
| Kbtbd7 |
T |
A |
14: 79,665,486 (GRCm39) |
D439E |
possibly damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,081,128 (GRCm39) |
F289L |
probably benign |
Het |
| Mapk6 |
A |
C |
9: 75,296,072 (GRCm39) |
D475E |
possibly damaging |
Het |
| Msh5 |
A |
G |
17: 35,247,745 (GRCm39) |
V825A |
possibly damaging |
Het |
| Mst1 |
A |
G |
9: 107,958,800 (GRCm39) |
I111V |
probably benign |
Het |
| Myo1h |
T |
A |
5: 114,486,500 (GRCm39) |
I586N |
probably damaging |
Het |
| Or4k36 |
G |
T |
2: 111,146,015 (GRCm39) |
A64S |
probably damaging |
Het |
| Panx1 |
C |
T |
9: 14,932,761 (GRCm39) |
V80M |
probably damaging |
Het |
| Polr3b |
T |
A |
10: 84,531,533 (GRCm39) |
I803N |
probably benign |
Het |
| Rasa4 |
T |
C |
5: 136,124,425 (GRCm39) |
V158A |
possibly damaging |
Het |
| Rbp3 |
T |
A |
14: 33,676,145 (GRCm39) |
M31K |
possibly damaging |
Het |
| Sec24a |
A |
T |
11: 51,604,356 (GRCm39) |
|
probably null |
Het |
| Sox5 |
C |
T |
6: 144,062,198 (GRCm39) |
M151I |
probably damaging |
Het |
| Sun1 |
T |
A |
5: 139,220,496 (GRCm39) |
L290Q |
probably damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,380,872 (GRCm39) |
I155N |
probably damaging |
Het |
| Trmt9b |
A |
G |
8: 36,979,501 (GRCm39) |
K368R |
probably benign |
Het |
| Tuft1 |
A |
G |
3: 94,542,810 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
A |
G |
9: 40,929,311 (GRCm39) |
|
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,855,200 (GRCm39) |
|
probably null |
Het |
| Wnk1 |
T |
C |
6: 119,914,372 (GRCm39) |
E80G |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
probably benign |
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 |
|
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 |
2013-10-07 |
Incidental Mutation