Incidental Mutation 'IGL02114:Larp1'
| ID |
280298 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
57899890-57952860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57947881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 926
(Y926H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071487]
[ENSMUST00000178636]
|
| AlphaFold |
Q6ZQ58 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071487
AA Change: Y926H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071421
Gene: ENSMUSG00000037331
AA Change: Y926H
| 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 damaging
Transcript: ENSMUST00000178636
AA Change: Y926H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136673
Gene: ENSMUSG00000037331
AA Change: Y926H
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700084J12Rik |
C |
A |
15: 33,405,844 (GRCm39) |
|
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,959 (GRCm39) |
V526A |
probably damaging |
Het |
| Ano6 |
C |
A |
15: 95,841,341 (GRCm39) |
S479R |
probably damaging |
Het |
| Aqp8 |
C |
A |
7: 123,063,419 (GRCm39) |
H90N |
probably damaging |
Het |
| Arih1 |
A |
T |
9: 59,333,452 (GRCm39) |
C229S |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,644,398 (GRCm39) |
|
probably null |
Het |
| Cp |
A |
G |
3: 20,020,511 (GRCm39) |
E168G |
probably benign |
Het |
| Creb5 |
C |
T |
6: 53,581,443 (GRCm39) |
|
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,617 (GRCm39) |
Y42* |
probably null |
Het |
| Cyp2c66 |
C |
A |
19: 39,159,519 (GRCm39) |
|
probably benign |
Het |
| Dcpp2 |
C |
A |
17: 24,119,609 (GRCm39) |
A141D |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,397,270 (GRCm39) |
D3321G |
probably damaging |
Het |
| Ecsit |
T |
C |
9: 21,989,440 (GRCm39) |
|
probably benign |
Het |
| Gabra1 |
T |
C |
11: 42,026,402 (GRCm39) |
I297V |
probably damaging |
Het |
| Gja8 |
T |
C |
3: 96,827,341 (GRCm39) |
K107R |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,739 (GRCm39) |
L30Q |
probably null |
Het |
| Hbp1 |
T |
C |
12: 31,980,674 (GRCm39) |
|
probably benign |
Het |
| Inhbc |
T |
C |
10: 127,205,971 (GRCm39) |
I99V |
probably benign |
Het |
| Kcne3 |
T |
A |
7: 99,833,697 (GRCm39) |
|
probably benign |
Het |
| Lhfpl5 |
G |
T |
17: 28,795,149 (GRCm39) |
A59S |
possibly damaging |
Het |
| Mov10 |
T |
A |
3: 104,702,634 (GRCm39) |
|
probably benign |
Het |
| Myl12b |
A |
T |
17: 71,284,164 (GRCm39) |
N21K |
possibly damaging |
Het |
| Ncoa7 |
A |
T |
10: 30,538,360 (GRCm39) |
V675E |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,425,444 (GRCm39) |
I255T |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,661,083 (GRCm39) |
|
probably benign |
Het |
| Or13c3 |
T |
A |
4: 52,856,144 (GRCm39) |
Y123F |
probably damaging |
Het |
| Otop2 |
A |
T |
11: 115,217,806 (GRCm39) |
D214V |
possibly damaging |
Het |
| Plec |
C |
A |
15: 76,057,748 (GRCm39) |
G3928V |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,356,047 (GRCm39) |
E176G |
probably damaging |
Het |
| Qdpr |
G |
A |
5: 45,592,018 (GRCm39) |
T106I |
possibly damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,319,978 (GRCm39) |
M481R |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Skic2 |
C |
T |
17: 35,060,092 (GRCm39) |
V145M |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,842,120 (GRCm39) |
V15D |
probably damaging |
Het |
| Stat4 |
T |
C |
1: 52,142,024 (GRCm39) |
S624P |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,935,321 (GRCm39) |
L1380Q |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,415,004 (GRCm39) |
I286V |
possibly damaging |
Het |
| Vmn2r30 |
T |
C |
7: 7,340,408 (GRCm39) |
I29V |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,959,843 (GRCm39) |
Q561R |
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,403,150 (GRCm39) |
F535L |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation