Incidental Mutation 'IGL03084:Larp1'
| ID |
417982 |
| 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 # |
IGL03084
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
57899890-57952860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57947921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 939
(L939Q)
|
| 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: L939Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071421
Gene: ENSMUSG00000037331
AA Change: L939Q
| 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: L939Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136673
Gene: ENSMUSG00000037331
AA Change: L939Q
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
G |
T |
8: 111,768,261 (GRCm39) |
V211L |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,004,007 (GRCm39) |
D753G |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,054,751 (GRCm39) |
M1098V |
probably damaging |
Het |
| Cachd1 |
T |
A |
4: 100,860,285 (GRCm39) |
D1285E |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,499,944 (GRCm39) |
T147A |
probably benign |
Het |
| Cdc14a |
A |
G |
3: 116,142,101 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
A |
1: 139,708,880 (GRCm39) |
L9F |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,990,560 (GRCm39) |
H1704R |
probably benign |
Het |
| Dmkn |
T |
G |
7: 30,470,481 (GRCm39) |
N367K |
possibly damaging |
Het |
| Fam151b |
C |
A |
13: 92,604,534 (GRCm39) |
D152Y |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,384,812 (GRCm39) |
S250G |
possibly damaging |
Het |
| Gm28042 |
A |
G |
2: 119,870,986 (GRCm39) |
Q833R |
probably benign |
Het |
| Gnpat |
A |
C |
8: 125,605,638 (GRCm39) |
Y336S |
probably damaging |
Het |
| Ighv1-54 |
G |
A |
12: 115,157,736 (GRCm39) |
|
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,485,036 (GRCm39) |
|
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,355 (GRCm39) |
N31S |
possibly damaging |
Het |
| Lrrc69 |
G |
A |
4: 14,708,631 (GRCm39) |
P238S |
probably damaging |
Het |
| Lypd10 |
T |
C |
7: 24,413,605 (GRCm39) |
I207T |
possibly damaging |
Het |
| Lztfl1 |
C |
T |
9: 123,538,641 (GRCm39) |
G152E |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,002,691 (GRCm39) |
T1097A |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,142,777 (GRCm39) |
|
probably null |
Het |
| Nab2 |
C |
T |
10: 127,500,346 (GRCm39) |
V249M |
probably damaging |
Het |
| Nid2 |
A |
T |
14: 19,819,000 (GRCm39) |
D498V |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,353,886 (GRCm39) |
T404A |
probably damaging |
Het |
| Or51i1 |
A |
G |
7: 103,670,838 (GRCm39) |
V229A |
probably benign |
Het |
| Or5al7 |
A |
T |
2: 85,992,569 (GRCm39) |
C241* |
probably null |
Het |
| Or5c1 |
T |
C |
2: 37,222,413 (GRCm39) |
I218T |
probably damaging |
Het |
| Or8c9 |
T |
G |
9: 38,241,513 (GRCm39) |
I210S |
probably damaging |
Het |
| Pard3 |
A |
G |
8: 128,319,573 (GRCm39) |
I1104V |
probably damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 44,989,651 (GRCm39) |
V1187A |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,603,413 (GRCm39) |
W346* |
probably null |
Het |
| Rpl4 |
A |
G |
9: 64,085,599 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,915,053 (GRCm39) |
I1206F |
probably damaging |
Het |
| Slc5a2 |
T |
C |
7: 127,865,776 (GRCm39) |
S61P |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,638,094 (GRCm39) |
|
probably null |
Het |
| Smyd4 |
A |
G |
11: 75,281,433 (GRCm39) |
H302R |
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,655,487 (GRCm39) |
I243T |
probably damaging |
Het |
| Stx8 |
C |
T |
11: 67,911,782 (GRCm39) |
Q167* |
probably null |
Het |
| Sycp2 |
C |
A |
2: 178,033,584 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,626,742 (GRCm39) |
V13088D |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,074,243 (GRCm39) |
M39L |
probably benign |
Het |
| Utp6 |
A |
T |
11: 79,853,042 (GRCm39) |
|
probably null |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,008 (GRCm39) |
Y276* |
probably null |
Het |
| Vmn2r11 |
T |
A |
5: 109,207,209 (GRCm39) |
D37V |
probably benign |
Het |
| Vmn2r16 |
T |
G |
5: 109,478,292 (GRCm39) |
F16V |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,592,354 (GRCm39) |
M538K |
probably damaging |
Het |
| Zfp143 |
T |
A |
7: 109,668,818 (GRCm39) |
|
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 |
|
IGL02114:Larp1
|
APN |
11 |
57,947,881 (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 |
2016-08-02 |
Incidental Mutation