Incidental Mutation 'IGL03126:Larp1'
| ID |
410165 |
| 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 # |
IGL03126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
57899890-57952860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57941703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 712
(V712A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071487]
[ENSMUST00000178636]
|
| AlphaFold |
Q6ZQ58 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071487
AA Change: V712A
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071421
Gene: ENSMUSG00000037331
AA Change: V712A
| 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: V712A
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000136673
Gene: ENSMUSG00000037331
AA Change: V712A
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,617,563 (GRCm39) |
N562S |
probably benign |
Het |
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,232,403 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Akr1c21 |
T |
C |
13: 4,627,457 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Anks3 |
T |
C |
16: 4,775,891 (GRCm39) |
T104A |
probably damaging |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,224 (GRCm39) |
Y129C |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,391,207 (GRCm39) |
K875I |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,067,127 (GRCm39) |
V15A |
probably benign |
Het |
| Dnaaf9 |
A |
T |
2: 130,633,915 (GRCm39) |
|
probably null |
Het |
| Elmo3 |
C |
A |
8: 106,033,013 (GRCm39) |
R66S |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,779,717 (GRCm39) |
S565P |
probably benign |
Het |
| Epn1 |
C |
A |
7: 5,098,684 (GRCm39) |
A370E |
probably benign |
Het |
| Esrrg |
T |
C |
1: 187,730,184 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
G |
6: 92,042,145 (GRCm39) |
L1034R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,573,135 (GRCm39) |
V567A |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| H3c3 |
T |
C |
13: 23,929,425 (GRCm39) |
K19R |
possibly damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,503 (GRCm39) |
F38S |
possibly damaging |
Het |
| Mep1b |
T |
C |
18: 21,221,617 (GRCm39) |
F189S |
probably damaging |
Het |
| Mill1 |
T |
C |
7: 17,989,832 (GRCm39) |
V38A |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,766,398 (GRCm39) |
R13W |
possibly damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,290 (GRCm39) |
I333V |
probably benign |
Het |
| Numa1 |
G |
T |
7: 101,649,874 (GRCm39) |
E1202* |
probably null |
Het |
| Or3a1b |
C |
T |
11: 74,012,610 (GRCm39) |
A165V |
probably benign |
Het |
| Or6k6 |
A |
G |
1: 173,945,276 (GRCm39) |
I102T |
probably benign |
Het |
| Oxr1 |
A |
T |
15: 41,683,645 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Prdx2 |
T |
C |
8: 85,698,198 (GRCm39) |
F130L |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,404,515 (GRCm39) |
S248R |
possibly damaging |
Het |
| Rgs19 |
A |
G |
2: 181,333,114 (GRCm39) |
S49P |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,495,075 (GRCm39) |
|
probably benign |
Het |
| Serpinb11 |
T |
C |
1: 107,307,654 (GRCm39) |
F362L |
probably damaging |
Het |
| Slamf8 |
T |
C |
1: 172,411,736 (GRCm39) |
H253R |
possibly damaging |
Het |
| Tet3 |
C |
A |
6: 83,353,769 (GRCm39) |
R829L |
probably damaging |
Het |
| Trappc8 |
A |
G |
18: 20,996,652 (GRCm39) |
L420P |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,407,199 (GRCm39) |
*353Y |
probably null |
Het |
| Wbp1l |
A |
C |
19: 46,632,838 (GRCm39) |
D46A |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
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 |
|
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 |
2016-08-02 |
Incidental Mutation