Incidental Mutation 'R5089:Larp1'
| ID |
446667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Larp1
|
| Ensembl Gene |
ENSMUSG00000037331 |
| Gene Name |
La ribonucleoprotein 1, translational regulator |
| Synonyms |
Larp, 3110040D16Rik, 1810024J12Rik |
| MMRRC Submission |
042678-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
57899890-57952860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 57938693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 492
(T492K)
|
| 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: T492K
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071421
Gene: ENSMUSG00000037331
AA Change: T492K
| 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 |
noncoding transcript
Transcript: ENSMUST00000140500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178636
AA Change: T492K
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136673
Gene: ENSMUSG00000037331
AA Change: T492K
| 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 |
|
| Meta Mutation Damage Score |
0.1013 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
C |
8: 117,698,672 (GRCm39) |
N145S |
possibly damaging |
Het |
| Acp2 |
T |
C |
2: 91,042,267 (GRCm39) |
|
probably benign |
Het |
| Adgrf2 |
G |
A |
17: 43,020,988 (GRCm39) |
A612V |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,651 (GRCm39) |
D2676E |
probably benign |
Het |
| Cct3 |
T |
G |
3: 88,208,150 (GRCm39) |
M46R |
probably damaging |
Het |
| Cdc123 |
T |
C |
2: 5,809,811 (GRCm39) |
D200G |
probably benign |
Het |
| Cdh9 |
T |
A |
15: 16,778,362 (GRCm39) |
F59Y |
probably damaging |
Het |
| Cluh |
A |
G |
11: 74,551,198 (GRCm39) |
E349G |
probably damaging |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,758,679 (GRCm39) |
H381R |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,681,519 (GRCm39) |
D991G |
probably damaging |
Het |
| Dhx16 |
A |
T |
17: 36,194,981 (GRCm39) |
M503L |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 63,007,248 (GRCm39) |
T650A |
probably benign |
Het |
| Etfa |
T |
A |
9: 55,396,150 (GRCm39) |
K139* |
probably null |
Het |
| Flnc |
T |
C |
6: 29,447,812 (GRCm39) |
I1205T |
probably damaging |
Het |
| Fzd6 |
T |
A |
15: 38,870,875 (GRCm39) |
C32S |
probably damaging |
Het |
| Gm1110 |
T |
A |
9: 26,793,683 (GRCm39) |
D515V |
probably damaging |
Het |
| Gm7676 |
T |
C |
8: 13,946,401 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr157 |
T |
C |
4: 150,186,750 (GRCm39) |
S293P |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,914,902 (GRCm39) |
D810G |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,876,942 (GRCm39) |
H1184R |
probably benign |
Het |
| Hoxc5 |
A |
T |
15: 102,922,487 (GRCm39) |
|
probably benign |
Het |
| Iah1 |
C |
T |
12: 21,373,309 (GRCm39) |
S196L |
possibly damaging |
Het |
| Il5 |
C |
T |
11: 53,612,655 (GRCm39) |
T55I |
possibly damaging |
Het |
| Kras |
T |
C |
6: 145,170,869 (GRCm39) |
K169E |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,314,328 (GRCm39) |
D203G |
probably damaging |
Het |
| Lpcat2 |
G |
A |
8: 93,606,071 (GRCm39) |
V241M |
probably damaging |
Het |
| Mpeg1 |
G |
A |
19: 12,440,361 (GRCm39) |
M606I |
probably benign |
Het |
| Ms4a1 |
G |
A |
19: 11,236,176 (GRCm39) |
P4S |
probably benign |
Het |
| Nat10 |
A |
T |
2: 103,587,488 (GRCm39) |
|
probably benign |
Het |
| Ncaph2 |
T |
A |
15: 89,240,148 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
A |
8: 108,078,070 (GRCm39) |
V403D |
probably damaging |
Het |
| Or2y10 |
T |
A |
11: 49,455,240 (GRCm39) |
M164K |
possibly damaging |
Het |
| Or4c109 |
A |
G |
2: 88,818,516 (GRCm39) |
F10S |
probably damaging |
Het |
| Pax7 |
T |
C |
4: 139,557,576 (GRCm39) |
H65R |
probably damaging |
Het |
| Phf20 |
C |
A |
2: 156,144,782 (GRCm39) |
H797N |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,455,283 (GRCm39) |
S4015T |
probably benign |
Het |
| Prdm5 |
C |
T |
6: 65,833,074 (GRCm39) |
H148Y |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,400,054 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
C |
15: 81,594,664 (GRCm39) |
D388E |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,129,625 (GRCm39) |
|
probably null |
Het |
| Serpinb6b |
G |
A |
13: 33,162,133 (GRCm39) |
E192K |
probably benign |
Het |
| Shfl |
A |
T |
9: 20,780,212 (GRCm39) |
M1L |
probably benign |
Het |
| Skor1 |
A |
G |
9: 63,053,205 (GRCm39) |
S216P |
probably damaging |
Het |
| Slc51a |
A |
G |
16: 32,296,364 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
T |
C |
10: 75,751,013 (GRCm39) |
T74A |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,945,198 (GRCm39) |
Y107* |
probably null |
Het |
| Spmip5 |
A |
T |
19: 58,774,678 (GRCm39) |
L176H |
probably damaging |
Het |
| Stk25 |
T |
A |
1: 93,552,330 (GRCm39) |
K350M |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,355,444 (GRCm39) |
W379* |
probably null |
Het |
| Taco1 |
A |
T |
11: 105,960,437 (GRCm39) |
E126V |
probably benign |
Het |
| Tbc1d12 |
T |
A |
19: 38,905,232 (GRCm39) |
L649* |
probably null |
Het |
| Trpm3 |
G |
A |
19: 22,744,120 (GRCm39) |
G238R |
probably damaging |
Het |
| Yy1 |
C |
A |
12: 108,759,663 (GRCm39) |
Q109K |
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 |
|
|
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'- TCCAGATCTGCTGCCCTAAG -3'
(R):5'- AAGGGTCTTCAGGTTGCTGAC -3'
Sequencing Primer
(F):5'- TCCTCTACAGGCTCTAAAGGACAG -3'
(R):5'- GGTTGCTGACCTCCTCTGTTTTTG -3'
|
| Posted On |
2016-12-12 |
Incidental Mutation