Incidental Mutation 'R6295:Rpl3l'
| ID |
508731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpl3l
|
| Ensembl Gene |
ENSMUSG00000002500 |
| Gene Name |
ribosomal protein L3-like |
| Synonyms |
1110057H16Rik |
| MMRRC Submission |
044463-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R6295 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24946800-24955117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24952966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 309
(V309I)
|
| 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: V142I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038326
Gene: ENSMUSG00000002500
AA Change: V142I
| 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: V309I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129325
Gene: ENSMUSG00000002500
AA Change: V309I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
C |
12: 118,838,379 (GRCm39) |
V1061G |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,781,413 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
A |
G |
7: 105,215,902 (GRCm39) |
F112L |
probably benign |
Het |
| Atg9a |
A |
G |
1: 75,161,702 (GRCm39) |
S615P |
probably benign |
Het |
| Atp8a2 |
G |
A |
14: 60,249,848 (GRCm39) |
R548* |
probably null |
Het |
| Bbof1 |
A |
T |
12: 84,457,942 (GRCm39) |
N69I |
possibly damaging |
Het |
| Bcl2l14 |
T |
A |
6: 134,404,370 (GRCm39) |
V186D |
probably benign |
Het |
| Bmp1 |
T |
G |
14: 70,728,823 (GRCm39) |
Y583S |
possibly damaging |
Het |
| Boc |
A |
C |
16: 44,312,711 (GRCm39) |
S586R |
probably benign |
Het |
| Btbd9 |
A |
T |
17: 30,518,710 (GRCm39) |
|
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,317,919 (GRCm39) |
M1180V |
probably damaging |
Het |
| Ciao1 |
T |
C |
2: 127,088,376 (GRCm39) |
H149R |
probably damaging |
Het |
| Cops5 |
T |
C |
1: 10,100,920 (GRCm39) |
|
probably benign |
Het |
| Doc2b |
C |
T |
11: 75,671,093 (GRCm39) |
R209Q |
probably damaging |
Het |
| Doc2b |
T |
C |
11: 75,686,451 (GRCm39) |
Y90C |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,901,675 (GRCm39) |
F481L |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,061,229 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
A |
9: 109,277,837 (GRCm39) |
|
probably benign |
Het |
| Fbxw27 |
T |
C |
9: 109,601,154 (GRCm39) |
E17G |
possibly damaging |
Het |
| Gm29735 |
G |
A |
7: 141,710,367 (GRCm39) |
P162S |
unknown |
Het |
| Gypa |
T |
G |
8: 81,222,969 (GRCm39) |
S24R |
unknown |
Het |
| Hdhd5 |
T |
C |
6: 120,495,485 (GRCm39) |
N153D |
probably benign |
Het |
| Ibsp |
C |
A |
5: 104,449,987 (GRCm39) |
|
probably null |
Het |
| Klhdc3 |
C |
T |
17: 46,988,972 (GRCm39) |
V73I |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,388,459 (GRCm39) |
E2322G |
unknown |
Het |
| Lrrtm3 |
T |
C |
10: 63,765,913 (GRCm39) |
H558R |
probably benign |
Het |
| Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,458,978 (GRCm39) |
V64A |
possibly damaging |
Het |
| Nthl1 |
C |
T |
17: 24,857,475 (GRCm39) |
R251C |
probably damaging |
Het |
| Numa1 |
G |
A |
7: 101,649,974 (GRCm39) |
R1235H |
probably benign |
Het |
| Opn1sw |
T |
A |
6: 29,379,413 (GRCm39) |
Y197F |
possibly damaging |
Het |
| Or10a3m |
T |
C |
7: 108,312,845 (GRCm39) |
V95A |
probably damaging |
Het |
| Pcca |
A |
T |
14: 122,896,187 (GRCm39) |
I268F |
probably benign |
Het |
| Per2 |
A |
T |
1: 91,377,594 (GRCm39) |
D76E |
unknown |
Het |
| Pfas |
T |
C |
11: 68,888,825 (GRCm39) |
N374S |
probably benign |
Het |
| Pomk |
C |
A |
8: 26,472,955 (GRCm39) |
V333F |
probably damaging |
Het |
| Ptgfr |
T |
C |
3: 151,540,926 (GRCm39) |
E194G |
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,582,997 (GRCm39) |
P615S |
probably damaging |
Het |
| Pyroxd1 |
T |
C |
6: 142,300,479 (GRCm39) |
I203T |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,087,520 (GRCm39) |
N466S |
probably benign |
Het |
| Rtkn2 |
C |
T |
10: 67,815,529 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
C |
T |
2: 26,318,253 (GRCm39) |
A1613T |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,874,103 (GRCm39) |
T33S |
probably damaging |
Het |
| Slc22a4 |
C |
A |
11: 53,898,634 (GRCm39) |
V153F |
possibly damaging |
Het |
| Stxbp1 |
C |
G |
2: 32,684,621 (GRCm39) |
E603Q |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,559,831 (GRCm39) |
S1291G |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,687,572 (GRCm39) |
L1144M |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,533 (GRCm39) |
V249A |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,888,182 (GRCm39) |
C552S |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTTCCAGAGTCTGAGCATGTG -3'
(R):5'- GTGAGAACTGACGCTTTCAAG -3'
Sequencing Primer
(F):5'- TCTGAGCATGTGGGCCAAG -3'
(R):5'- CGCTTTCAAGTGTGCGAGAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation