Incidental Mutation 'R3618:Larp1'
ID |
268524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Larp1
|
Ensembl Gene |
ENSMUSG00000037331 |
Gene Name |
La ribonucleoprotein 1, translational regulator |
Synonyms |
Larp, 3110040D16Rik, 1810024J12Rik |
MMRRC Submission |
040675-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3618 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
57899890-57952860 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57948172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 990
(E990D)
|
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: E990D
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000071421 Gene: ENSMUSG00000037331 AA Change: E990D
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: E990D
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000136673 Gene: ENSMUSG00000037331 AA Change: E990D
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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,774,168 (GRCm39) |
E1119G |
probably damaging |
Het |
Ahnak2 |
A |
G |
12: 112,749,842 (GRCm39) |
I132T |
probably damaging |
Het |
Arhgap29 |
G |
A |
3: 121,782,176 (GRCm39) |
D63N |
possibly damaging |
Het |
Bsn |
T |
A |
9: 107,994,760 (GRCm39) |
|
probably null |
Het |
Cfap161 |
A |
C |
7: 83,429,390 (GRCm39) |
Y209* |
probably null |
Het |
Drp2 |
A |
C |
X: 133,340,717 (GRCm39) |
D458A |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,834,270 (GRCm39) |
H446R |
probably benign |
Het |
Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
F13a1 |
G |
A |
13: 37,127,967 (GRCm39) |
T337I |
probably damaging |
Het |
Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
Hcfc1 |
A |
T |
X: 72,993,694 (GRCm39) |
V1157D |
probably benign |
Het |
Inava |
A |
C |
1: 136,142,110 (GRCm39) |
V663G |
probably benign |
Het |
Ino80 |
T |
C |
2: 119,277,353 (GRCm39) |
D374G |
probably null |
Het |
Kif1a |
T |
C |
1: 93,004,765 (GRCm39) |
E143G |
probably null |
Het |
Larp7 |
C |
A |
3: 127,330,614 (GRCm39) |
E568* |
probably null |
Het |
Ltn1 |
A |
T |
16: 87,217,787 (GRCm39) |
S298R |
probably damaging |
Het |
Mcm10 |
A |
G |
2: 5,001,913 (GRCm39) |
|
probably null |
Het |
Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
Mroh1 |
A |
G |
15: 76,336,546 (GRCm39) |
T1590A |
possibly damaging |
Het |
Ncoa6 |
A |
T |
2: 155,249,709 (GRCm39) |
H1198Q |
possibly damaging |
Het |
Ogg1 |
A |
G |
6: 113,305,334 (GRCm39) |
E49G |
probably damaging |
Het |
Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
Parp3 |
T |
C |
9: 106,352,262 (GRCm39) |
E88G |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,735,965 (GRCm39) |
I156T |
probably benign |
Het |
Pus7l |
T |
A |
15: 94,425,788 (GRCm39) |
I538F |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Ryr2 |
C |
T |
13: 11,787,466 (GRCm39) |
|
probably null |
Het |
Slc8a2 |
A |
G |
7: 15,886,824 (GRCm39) |
N656D |
possibly damaging |
Het |
Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
Tbcel |
T |
C |
9: 42,372,591 (GRCm39) |
|
probably benign |
Het |
Trpv3 |
A |
T |
11: 73,186,281 (GRCm39) |
I691F |
probably damaging |
Het |
Uba2 |
A |
G |
7: 33,853,907 (GRCm39) |
|
probably null |
Het |
Usp53 |
A |
C |
3: 122,728,061 (GRCm39) |
S840R |
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,743,692 (GRCm39) |
I452F |
probably benign |
Het |
Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
Het |
Zfp42 |
T |
C |
8: 43,748,938 (GRCm39) |
R188G |
possibly 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 |
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 |
R6350:Larp1
|
UTSW |
11 |
57,940,657 (GRCm39) |
missense |
probably benign |
0.14 |
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'- TGGTAAGAGTGTCAGAGCTGC -3'
(R):5'- TGACACAAACTAGTAGTAGTGGGC -3'
Sequencing Primer
(F):5'- TGTCAGAGCTGCGGGAG -3'
(R):5'- CTAGTAGTAGTGGGCCTGGATAAGC -3'
|
Posted On |
2015-02-19 |