Incidental Mutation 'R6350:Larp1'
ID |
514158 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Larp1
|
Ensembl Gene |
ENSMUSG00000037331 |
Gene Name |
La ribonucleoprotein 1, translational regulator |
Synonyms |
Larp, 3110040D16Rik, 1810024J12Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6350 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
57899890-57952860 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57940657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 594
(D594E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136673
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071487]
[ENSMUST00000178636]
|
AlphaFold |
Q6ZQ58 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071487
AA Change: D594E
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000071421 Gene: ENSMUSG00000037331 AA Change: D594E
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
low complexity region
|
37 |
87 |
N/A |
INTRINSIC |
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
low complexity region
|
304 |
331 |
N/A |
INTRINSIC |
LA
|
376 |
452 |
1.98e-40 |
SMART |
low complexity region
|
538 |
555 |
N/A |
INTRINSIC |
low complexity region
|
562 |
571 |
N/A |
INTRINSIC |
low complexity region
|
575 |
589 |
N/A |
INTRINSIC |
low complexity region
|
758 |
766 |
N/A |
INTRINSIC |
DM15
|
861 |
902 |
7.3e-20 |
SMART |
DM15
|
903 |
941 |
3.85e-19 |
SMART |
DM15
|
942 |
977 |
8.59e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178636
AA Change: D594E
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000136673 Gene: ENSMUSG00000037331 AA Change: D594E
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
low complexity region
|
37 |
87 |
N/A |
INTRINSIC |
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
low complexity region
|
122 |
136 |
N/A |
INTRINSIC |
low complexity region
|
304 |
331 |
N/A |
INTRINSIC |
LA
|
376 |
452 |
1.98e-40 |
SMART |
low complexity region
|
538 |
555 |
N/A |
INTRINSIC |
low complexity region
|
562 |
571 |
N/A |
INTRINSIC |
low complexity region
|
575 |
589 |
N/A |
INTRINSIC |
low complexity region
|
758 |
766 |
N/A |
INTRINSIC |
DM15
|
861 |
902 |
7.3e-20 |
SMART |
DM15
|
903 |
941 |
3.85e-19 |
SMART |
DM15
|
942 |
977 |
8.59e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,947,764 (GRCm39) |
K554E |
possibly damaging |
Het |
Acsf2 |
T |
C |
11: 94,449,156 (GRCm39) |
M609V |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,367,256 (GRCm39) |
T30A |
probably benign |
Het |
Adam32 |
T |
C |
8: 25,353,445 (GRCm39) |
K715E |
possibly damaging |
Het |
Cdk5r1 |
T |
C |
11: 80,369,068 (GRCm39) |
L245P |
probably damaging |
Het |
Cntn3 |
A |
G |
6: 102,147,579 (GRCm39) |
V926A |
probably damaging |
Het |
Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
D3Ertd751e |
T |
A |
3: 41,708,278 (GRCm39) |
H138Q |
probably damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,062,415 (GRCm39) |
L35P |
probably damaging |
Het |
Faap100 |
A |
T |
11: 120,265,406 (GRCm39) |
V490E |
probably damaging |
Het |
Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
Kcnmb1 |
A |
G |
11: 33,914,711 (GRCm39) |
K4R |
probably damaging |
Het |
Lnpep |
G |
T |
17: 17,783,071 (GRCm39) |
H577N |
probably benign |
Het |
Mief1 |
T |
C |
15: 80,133,804 (GRCm39) |
I287T |
probably damaging |
Het |
Mras |
T |
C |
9: 99,293,560 (GRCm39) |
S27G |
probably damaging |
Het |
Myh7b |
T |
A |
2: 155,470,680 (GRCm39) |
C1043S |
probably benign |
Het |
N4bp1 |
T |
C |
8: 87,588,596 (GRCm39) |
D114G |
probably damaging |
Het |
Nsmce4a |
A |
T |
7: 130,140,829 (GRCm39) |
I219K |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,105,533 (GRCm39) |
I848F |
probably benign |
Het |
Or2p2 |
T |
C |
13: 21,256,775 (GRCm39) |
E232G |
probably benign |
Het |
Or4f62 |
T |
A |
2: 111,986,542 (GRCm39) |
I82N |
probably damaging |
Het |
Patj |
T |
A |
4: 98,293,855 (GRCm39) |
S36T |
probably benign |
Het |
Pcdhb15 |
G |
A |
18: 37,608,414 (GRCm39) |
V549M |
probably damaging |
Het |
Prl2c5 |
T |
C |
13: 13,357,631 (GRCm39) |
|
probably null |
Het |
Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
Ptpra |
T |
C |
2: 130,382,512 (GRCm39) |
L451P |
probably damaging |
Het |
Repin1 |
A |
G |
6: 48,574,562 (GRCm39) |
D497G |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,776,282 (GRCm39) |
F1085S |
probably damaging |
Het |
Slc6a18 |
G |
A |
13: 73,826,044 (GRCm39) |
A2V |
possibly damaging |
Het |
Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably damaging |
Het |
Zmynd15 |
T |
C |
11: 70,355,257 (GRCm39) |
V388A |
probably damaging |
Het |
|
Other mutations in Larp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01537:Larp1
|
APN |
11 |
57,933,648 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02114:Larp1
|
APN |
11 |
57,947,881 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03084:Larp1
|
APN |
11 |
57,947,921 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03126:Larp1
|
APN |
11 |
57,941,703 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL03278:Larp1
|
APN |
11 |
57,934,882 (GRCm39) |
splice site |
probably benign |
|
Bayou
|
UTSW |
11 |
57,949,422 (GRCm39) |
frame shift |
probably null |
|
R0009:Larp1
|
UTSW |
11 |
57,946,299 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0020:Larp1
|
UTSW |
11 |
57,940,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R0479:Larp1
|
UTSW |
11 |
57,933,646 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0845:Larp1
|
UTSW |
11 |
57,938,576 (GRCm39) |
missense |
probably benign |
0.00 |
R1691:Larp1
|
UTSW |
11 |
57,938,874 (GRCm39) |
missense |
probably benign |
0.08 |
R1793:Larp1
|
UTSW |
11 |
57,940,764 (GRCm39) |
missense |
possibly damaging |
0.60 |
R3618:Larp1
|
UTSW |
11 |
57,948,172 (GRCm39) |
missense |
probably benign |
0.03 |
R4689:Larp1
|
UTSW |
11 |
57,932,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R4797:Larp1
|
UTSW |
11 |
57,938,806 (GRCm39) |
nonsense |
probably null |
|
R5089:Larp1
|
UTSW |
11 |
57,938,693 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5309:Larp1
|
UTSW |
11 |
57,941,634 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5883:Larp1
|
UTSW |
11 |
57,933,125 (GRCm39) |
missense |
probably damaging |
0.97 |
R5951:Larp1
|
UTSW |
11 |
57,940,765 (GRCm39) |
missense |
probably benign |
0.14 |
R6038:Larp1
|
UTSW |
11 |
57,932,431 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6038:Larp1
|
UTSW |
11 |
57,932,431 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6266:Larp1
|
UTSW |
11 |
57,933,089 (GRCm39) |
missense |
probably damaging |
0.99 |
R6650:Larp1
|
UTSW |
11 |
57,949,422 (GRCm39) |
frame shift |
probably null |
|
R6687:Larp1
|
UTSW |
11 |
57,948,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R6736:Larp1
|
UTSW |
11 |
57,933,473 (GRCm39) |
splice site |
probably null |
|
R6881:Larp1
|
UTSW |
11 |
57,940,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R7368:Larp1
|
UTSW |
11 |
57,938,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R7547:Larp1
|
UTSW |
11 |
57,943,405 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7838:Larp1
|
UTSW |
11 |
57,938,540 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8260:Larp1
|
UTSW |
11 |
57,949,515 (GRCm39) |
missense |
probably benign |
0.05 |
R8446:Larp1
|
UTSW |
11 |
57,942,035 (GRCm39) |
critical splice donor site |
probably null |
|
R9381:Larp1
|
UTSW |
11 |
57,949,532 (GRCm39) |
missense |
probably benign |
|
R9450:Larp1
|
UTSW |
11 |
57,941,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9466:Larp1
|
UTSW |
11 |
57,943,461 (GRCm39) |
missense |
possibly damaging |
0.96 |
Z1177:Larp1
|
UTSW |
11 |
57,940,613 (GRCm39) |
nonsense |
probably null |
|
Z1186:Larp1
|
UTSW |
11 |
57,933,166 (GRCm39) |
missense |
probably benign |
0.00 |
Z1187:Larp1
|
UTSW |
11 |
57,933,166 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:Larp1
|
UTSW |
11 |
57,933,166 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:Larp1
|
UTSW |
11 |
57,933,166 (GRCm39) |
missense |
probably benign |
0.00 |
Z1190:Larp1
|
UTSW |
11 |
57,933,166 (GRCm39) |
missense |
probably benign |
0.00 |
Z1191:Larp1
|
UTSW |
11 |
57,933,166 (GRCm39) |
missense |
probably benign |
0.00 |
Z1192:Larp1
|
UTSW |
11 |
57,933,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTCTTTGGGCAGCTAGAAAG -3'
(R):5'- TTGGCCAGTTCAGCACTCATC -3'
Sequencing Primer
(F):5'- AGGTCCTCATGTGTTACTATTCCCAG -3'
(R):5'- ACTCATCTTGGCACGCGAAG -3'
|
Posted On |
2018-04-27 |