Incidental Mutation 'IGL02422:Rpl3l'
ID |
292711 |
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 # |
IGL02422
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
24946800-24955117 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 24952962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 307
(Y307*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045186]
[ENSMUST00000101800]
[ENSMUST00000115262]
[ENSMUST00000170239]
[ENSMUST00000183214]
|
AlphaFold |
E9PWZ3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045186
AA Change: Y140*
|
SMART Domains |
Protein: ENSMUSP00000038326 Gene: ENSMUSG00000002500 AA Change: Y140*
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 null
Transcript: ENSMUST00000170239
AA Change: Y307*
|
SMART Domains |
Protein: ENSMUSP00000129325 Gene: ENSMUSG00000002500 AA Change: Y307*
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019M22Rik |
T |
C |
12: 96,013,821 (GRCm39) |
|
noncoding transcript |
Het |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Aak1 |
A |
T |
6: 86,959,598 (GRCm39) |
T846S |
unknown |
Het |
Adgrl1 |
A |
G |
8: 84,664,115 (GRCm39) |
D1149G |
probably damaging |
Het |
AI661453 |
C |
T |
17: 47,778,017 (GRCm39) |
|
probably benign |
Het |
Ap4b1 |
T |
C |
3: 103,720,170 (GRCm39) |
V139A |
possibly damaging |
Het |
Arhgef16 |
G |
A |
4: 154,371,522 (GRCm39) |
R224* |
probably null |
Het |
Ash1l |
T |
A |
3: 88,976,386 (GRCm39) |
|
probably null |
Het |
Atm |
A |
T |
9: 53,412,092 (GRCm39) |
V988D |
probably damaging |
Het |
C3 |
T |
C |
17: 57,533,823 (GRCm39) |
E47G |
probably damaging |
Het |
Cdkn2aip |
G |
A |
8: 48,164,534 (GRCm39) |
S393L |
probably damaging |
Het |
Cep20 |
T |
G |
16: 14,118,070 (GRCm39) |
D150A |
probably benign |
Het |
Cyp2c68 |
A |
C |
19: 39,722,896 (GRCm39) |
N217K |
probably damaging |
Het |
Dapp1 |
A |
T |
3: 137,667,260 (GRCm39) |
S101T |
probably benign |
Het |
Ddx25 |
T |
C |
9: 35,462,660 (GRCm39) |
I242V |
probably null |
Het |
Dpy19l4 |
T |
C |
4: 11,265,803 (GRCm39) |
N715S |
possibly damaging |
Het |
Dync1h1 |
A |
G |
12: 110,606,644 (GRCm39) |
E2511G |
possibly damaging |
Het |
Gm9839 |
T |
A |
1: 32,558,943 (GRCm39) |
|
probably benign |
Het |
Grn |
A |
G |
11: 102,327,084 (GRCm39) |
|
probably benign |
Het |
Haus5 |
T |
C |
7: 30,359,571 (GRCm39) |
T196A |
possibly damaging |
Het |
Ik |
A |
G |
18: 36,886,313 (GRCm39) |
|
probably null |
Het |
Inpp5d |
T |
G |
1: 87,635,854 (GRCm39) |
F473C |
probably damaging |
Het |
Kif19a |
C |
A |
11: 114,680,187 (GRCm39) |
S841R |
probably damaging |
Het |
Lipn |
G |
A |
19: 34,046,063 (GRCm39) |
C12Y |
probably benign |
Het |
Ltbp4 |
G |
T |
7: 27,019,097 (GRCm39) |
P1074Q |
probably damaging |
Het |
Mfap2 |
T |
C |
4: 140,741,535 (GRCm39) |
S65P |
probably benign |
Het |
Mtbp |
T |
C |
15: 55,426,439 (GRCm39) |
F127S |
possibly damaging |
Het |
Or8k37 |
A |
G |
2: 86,469,560 (GRCm39) |
F164S |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,764,503 (GRCm39) |
D336G |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,871,237 (GRCm39) |
|
probably benign |
Het |
Plekhm3 |
A |
T |
1: 64,961,025 (GRCm39) |
C410* |
probably null |
Het |
Ppm1f |
T |
A |
16: 16,735,580 (GRCm39) |
H265Q |
probably damaging |
Het |
Pramel16 |
T |
A |
4: 143,676,453 (GRCm39) |
Y217F |
probably benign |
Het |
Rasal3 |
T |
C |
17: 32,617,947 (GRCm39) |
T207A |
probably benign |
Het |
Rnf17 |
T |
A |
14: 56,719,592 (GRCm39) |
N947K |
probably damaging |
Het |
Sema4d |
A |
G |
13: 51,857,124 (GRCm39) |
S703P |
probably benign |
Het |
Slc12a7 |
T |
C |
13: 73,954,280 (GRCm39) |
M857T |
probably benign |
Het |
Slc34a3 |
T |
C |
2: 25,122,275 (GRCm39) |
D110G |
probably benign |
Het |
Spata32 |
A |
T |
11: 103,099,706 (GRCm39) |
N266K |
probably benign |
Het |
Spata9 |
A |
G |
13: 76,141,193 (GRCm39) |
I147V |
probably benign |
Het |
Supt16 |
T |
C |
14: 52,417,000 (GRCm39) |
Y326C |
possibly damaging |
Het |
Tpx2 |
T |
C |
2: 152,715,064 (GRCm39) |
I95T |
probably benign |
Het |
Usp17ld |
T |
A |
7: 102,899,967 (GRCm39) |
M322L |
probably damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
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 |
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 |
2015-04-16 |