Incidental Mutation 'PIT4468001:Rpl3l'
| ID |
555667 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4468001 (G1)
|
| Quality Score |
90.0077 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24946800-24955117 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24954457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 173
(T173A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045186]
[ENSMUST00000101800]
[ENSMUST00000115262]
[ENSMUST00000170239]
[ENSMUST00000183214]
|
| AlphaFold |
E9PWZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045186
AA Change: T173A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000038326
Gene: ENSMUSG00000002500
AA Change: T173A
| 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: T340A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129325
Gene: ENSMUSG00000002500
AA Change: T340A
| 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 |
- 1x: 93.0%
- 3x: 90.7%
- 10x: 85.2%
- 20x: 72.8%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
C |
T |
14: 4,348,940 (GRCm38) |
L34F |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,601,701 (GRCm39) |
|
probably null |
Het |
| Arhgap15 |
C |
A |
2: 44,133,143 (GRCm39) |
Q350K |
probably damaging |
Het |
| Bbs1 |
T |
A |
19: 4,956,190 (GRCm39) |
H35L |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,876,008 (GRCm39) |
N468S |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,455,338 (GRCm39) |
I1050V |
possibly damaging |
Het |
| Chd8 |
A |
C |
14: 52,445,453 (GRCm39) |
D1709E |
probably benign |
Het |
| Clec9a |
G |
A |
6: 129,396,597 (GRCm39) |
|
probably null |
Het |
| Cyp2c70 |
T |
A |
19: 40,153,806 (GRCm39) |
D261V |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,475,301 (GRCm39) |
N420D |
possibly damaging |
Het |
| Dpys |
T |
A |
15: 39,720,601 (GRCm39) |
D53V |
probably damaging |
Het |
| Edem1 |
A |
G |
6: 108,821,828 (GRCm39) |
E295G |
probably damaging |
Het |
| Farp2 |
G |
T |
1: 93,456,499 (GRCm39) |
E61* |
probably null |
Het |
| Fat3 |
T |
G |
9: 15,907,647 (GRCm39) |
D2785A |
probably benign |
Het |
| Fbxo30 |
T |
A |
10: 11,166,700 (GRCm39) |
M474K |
possibly damaging |
Het |
| Gm13090 |
C |
A |
4: 151,175,539 (GRCm39) |
P93Q |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,443,535 (GRCm39) |
R229* |
probably null |
Het |
| Gpr108 |
A |
T |
17: 57,554,563 (GRCm39) |
L25Q |
probably null |
Het |
| Hdac9 |
C |
A |
12: 34,145,933 (GRCm39) |
V920F |
unknown |
Het |
| Ighv13-2 |
T |
C |
12: 114,321,593 (GRCm39) |
S49G |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,602,352 (GRCm39) |
Y111C |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,798,463 (GRCm39) |
S775P |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,300,876 (GRCm39) |
I1386T |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,942,294 (GRCm39) |
E352G |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,702,805 (GRCm39) |
M61T |
unknown |
Het |
| Ntn4 |
A |
G |
10: 93,480,587 (GRCm39) |
T104A |
probably damaging |
Het |
| Numb |
G |
A |
12: 83,854,921 (GRCm39) |
T135I |
probably damaging |
Het |
| Or4b12 |
C |
A |
2: 90,096,564 (GRCm39) |
C70F |
probably benign |
Het |
| Or52ab4 |
A |
C |
7: 102,987,807 (GRCm39) |
E182A |
probably damaging |
Het |
| Or5m5 |
A |
T |
2: 85,814,792 (GRCm39) |
T203S |
probably benign |
Het |
| Parpbp |
A |
C |
10: 87,979,935 (GRCm39) |
L7R |
probably benign |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,686 (GRCm39) |
Y455H |
probably damaging |
Het |
| Pcdhga10 |
T |
A |
18: 37,880,936 (GRCm39) |
D232E |
probably damaging |
Het |
| Pcdhga9 |
T |
A |
18: 37,872,527 (GRCm39) |
C785* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,391,131 (GRCm39) |
Y1913C |
possibly damaging |
Het |
| Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,805,136 (GRCm39) |
I350N |
probably benign |
Het |
| Rc3h2 |
C |
A |
2: 37,289,651 (GRCm39) |
G387V |
probably damaging |
Het |
| Rfwd3 |
T |
C |
8: 112,009,352 (GRCm39) |
H408R |
probably benign |
Het |
| Sdad1 |
T |
C |
5: 92,439,777 (GRCm39) |
D416G |
probably damaging |
Het |
| Srp72 |
C |
A |
5: 77,142,053 (GRCm39) |
T430K |
probably benign |
Het |
| Steap1 |
C |
A |
5: 5,786,642 (GRCm39) |
G265V |
probably damaging |
Het |
| Sulf2 |
A |
T |
2: 165,922,720 (GRCm39) |
I670N |
probably benign |
Het |
| Tcf7l2 |
A |
T |
19: 55,730,820 (GRCm39) |
D16V |
probably damaging |
Het |
| Tmem100 |
T |
A |
11: 89,926,187 (GRCm39) |
S5T |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,282,398 (GRCm39) |
S436P |
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,122,771 (GRCm39) |
Y40H |
possibly damaging |
Het |
| Ubxn8 |
T |
A |
8: 34,111,569 (GRCm39) |
S275C |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
| Upk3b |
C |
T |
5: 136,071,861 (GRCm39) |
T222M |
probably benign |
Het |
| Usp42 |
T |
A |
5: 143,700,399 (GRCm39) |
K1208M |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,557 (GRCm39) |
D341E |
probably benign |
Het |
| Vmn2r83 |
T |
G |
10: 79,313,884 (GRCm39) |
L164R |
probably damaging |
Het |
| Vwa8 |
G |
T |
14: 79,420,501 (GRCm39) |
R1734L |
probably damaging |
Het |
| Zfand2b |
G |
T |
1: 75,146,476 (GRCm39) |
R117L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGAGATGTTACTGCCCC -3'
(R):5'- CTGTGACCTCCAGTTCACAC -3'
Sequencing Primer
(F):5'- TGAGATGTTACTGCCCCCTGAG -3'
(R):5'- GTTCACACCAAGGAGGACTCAGTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation