Incidental Mutation 'R8429:Larp1b'
| ID |
653638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Larp1b
|
| Ensembl Gene |
ENSMUSG00000025762 |
| Gene Name |
La ribonucleoprotein 1B |
| Synonyms |
4933421B21Rik, Larp2, 1700108L22Rik |
| MMRRC Submission |
067774-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8429 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40904263-40994669 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 40931662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 336
(*336W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048490]
[ENSMUST00000191805]
[ENSMUST00000191872]
|
| AlphaFold |
F6U5V1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048490
AA Change: *336W
|
| SMART Domains |
Protein: ENSMUSP00000037127
Gene: ENSMUSG00000025762
AA Change: *336W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
164 |
N/A |
INTRINSIC |
|
LA
|
213 |
291 |
4.35e-37 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000191805
AA Change: *336W
|
| SMART Domains |
Protein: ENSMUSP00000141487
Gene: ENSMUSG00000025762
AA Change: *336W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
164 |
N/A |
INTRINSIC |
|
LA
|
213 |
291 |
4.35e-37 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000191872
AA Change: *289W
|
| SMART Domains |
Protein: ENSMUSP00000142106
Gene: ENSMUSG00000025762
AA Change: *289W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
117 |
N/A |
INTRINSIC |
|
LA
|
166 |
244 |
4.35e-37 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193795
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
T |
17: 48,347,875 (GRCm39) |
L143* |
probably null |
Het |
| 2900026A02Rik |
T |
C |
5: 113,331,302 (GRCm39) |
T971A |
probably benign |
Het |
| Abca6 |
A |
T |
11: 110,093,208 (GRCm39) |
C1022S |
probably benign |
Het |
| Adgrf4 |
G |
T |
17: 42,978,340 (GRCm39) |
N334K |
probably benign |
Het |
| Baz1b |
A |
G |
5: 135,246,185 (GRCm39) |
K545E |
probably benign |
Het |
| Bin3 |
A |
G |
14: 70,374,598 (GRCm39) |
Y209C |
probably damaging |
Het |
| Btbd16 |
G |
A |
7: 130,397,067 (GRCm39) |
A223T |
probably benign |
Het |
| C3 |
A |
G |
17: 57,529,811 (GRCm39) |
V555A |
probably damaging |
Het |
| Calm3 |
T |
A |
7: 16,653,592 (GRCm39) |
|
probably null |
Het |
| Cct4 |
T |
A |
11: 22,946,030 (GRCm39) |
L124Q |
probably damaging |
Het |
| Cenpf |
C |
T |
1: 189,389,504 (GRCm39) |
D1443N |
possibly damaging |
Het |
| Egfem1 |
G |
A |
3: 29,711,417 (GRCm39) |
|
probably null |
Het |
| Epha4 |
G |
T |
1: 77,366,673 (GRCm39) |
Q591K |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,088,133 (GRCm39) |
F929L |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,366,522 (GRCm39) |
D95V |
possibly damaging |
Het |
| Foxc1 |
A |
T |
13: 31,991,759 (GRCm39) |
H190L |
probably benign |
Het |
| Gm45713 |
T |
C |
7: 44,785,540 (GRCm39) |
S2G |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,710,914 (GRCm39) |
I877M |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,349,255 (GRCm39) |
I119V |
probably benign |
Het |
| Hcar2 |
C |
T |
5: 124,003,538 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
C |
A |
6: 145,110,949 (GRCm39) |
D251E |
probably damaging |
Het |
| Krt13 |
A |
T |
11: 100,011,951 (GRCm39) |
L124Q |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,038,445 (GRCm39) |
L35P |
probably damaging |
Het |
| Meioc |
A |
T |
11: 102,565,032 (GRCm39) |
N160I |
probably benign |
Het |
| Mfsd2b |
G |
T |
12: 4,916,487 (GRCm39) |
Q331K |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,944,460 (GRCm39) |
V930E |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,173 (GRCm39) |
F252I |
probably benign |
Het |
| Nars1 |
A |
G |
18: 64,634,391 (GRCm39) |
Y511H |
probably damaging |
Het |
| Naxe |
C |
A |
3: 87,965,459 (GRCm39) |
S84I |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,523 (GRCm39) |
D634V |
probably damaging |
Het |
| Npat |
C |
T |
9: 53,481,909 (GRCm39) |
Q1206* |
probably null |
Het |
| Nr1d2 |
G |
A |
14: 18,215,409 (GRCm38) |
T201I |
probably benign |
Het |
| Nt5el |
A |
G |
13: 105,255,296 (GRCm39) |
Y459C |
probably damaging |
Het |
| Nup155 |
C |
T |
15: 8,141,904 (GRCm39) |
H99Y |
probably damaging |
Het |
| Or10ag60 |
G |
T |
2: 87,437,868 (GRCm39) |
L45F |
probably benign |
Het |
| Or4f4b |
G |
A |
2: 111,313,840 (GRCm39) |
V50I |
possibly damaging |
Het |
| Or5ac25 |
A |
G |
16: 59,181,990 (GRCm39) |
V197A |
possibly damaging |
Het |
| Or9k2b |
A |
G |
10: 130,016,092 (GRCm39) |
V219A |
possibly damaging |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Pde6a |
T |
A |
18: 61,365,916 (GRCm39) |
Y214N |
probably damaging |
Het |
| Pex7 |
T |
C |
10: 19,770,074 (GRCm39) |
T145A |
probably damaging |
Het |
| Plekhj1 |
C |
T |
10: 80,632,304 (GRCm39) |
S146N |
probably benign |
Het |
| Ralgapb |
C |
T |
2: 158,268,217 (GRCm39) |
P107S |
probably damaging |
Het |
| Satb1 |
A |
G |
17: 52,074,978 (GRCm39) |
M506T |
probably damaging |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,821 (GRCm39) |
N203D |
possibly damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,562,342 (GRCm39) |
I240F |
probably benign |
Het |
| Spata31h1 |
G |
T |
10: 82,125,301 (GRCm39) |
Q2570K |
possibly damaging |
Het |
| Syt17 |
T |
A |
7: 118,033,564 (GRCm39) |
Y144F |
probably benign |
Het |
| Thbd |
G |
T |
2: 148,249,457 (GRCm39) |
T137K |
possibly damaging |
Het |
| Tmem114 |
A |
G |
16: 8,230,031 (GRCm39) |
F124L |
probably damaging |
Het |
| Ubtd1 |
G |
T |
19: 42,020,556 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
A |
G |
13: 67,406,152 (GRCm39) |
Y96H |
possibly damaging |
Het |
| Zfp78 |
T |
C |
7: 6,381,492 (GRCm39) |
S181P |
probably benign |
Het |
|
| Other mutations in Larp1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01506:Larp1b
|
APN |
3 |
40,987,875 (GRCm39) |
nonsense |
probably null |
|
|
IGL01636:Larp1b
|
APN |
3 |
40,924,913 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01845:Larp1b
|
APN |
3 |
40,924,960 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02192:Larp1b
|
APN |
3 |
40,921,929 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03372:Larp1b
|
APN |
3 |
40,978,962 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0396:Larp1b
|
UTSW |
3 |
40,924,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Larp1b
|
UTSW |
3 |
40,924,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0975:Larp1b
|
UTSW |
3 |
40,924,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1119:Larp1b
|
UTSW |
3 |
40,987,963 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1337:Larp1b
|
UTSW |
3 |
40,987,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Larp1b
|
UTSW |
3 |
40,916,653 (GRCm39) |
missense |
probably benign |
|
|
R1565:Larp1b
|
UTSW |
3 |
40,926,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Larp1b
|
UTSW |
3 |
40,987,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Larp1b
|
UTSW |
3 |
40,988,507 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R1899:Larp1b
|
UTSW |
3 |
40,918,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2133:Larp1b
|
UTSW |
3 |
40,924,970 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3054:Larp1b
|
UTSW |
3 |
40,918,535 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4621:Larp1b
|
UTSW |
3 |
40,918,424 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4818:Larp1b
|
UTSW |
3 |
40,925,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Larp1b
|
UTSW |
3 |
40,988,420 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5166:Larp1b
|
UTSW |
3 |
40,918,487 (GRCm39) |
nonsense |
probably null |
|
|
R5357:Larp1b
|
UTSW |
3 |
40,978,950 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5364:Larp1b
|
UTSW |
3 |
40,931,658 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5492:Larp1b
|
UTSW |
3 |
40,924,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5495:Larp1b
|
UTSW |
3 |
40,990,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Larp1b
|
UTSW |
3 |
40,931,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7293:Larp1b
|
UTSW |
3 |
40,939,879 (GRCm39) |
missense |
|
|
|
R7615:Larp1b
|
UTSW |
3 |
40,990,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7615:Larp1b
|
UTSW |
3 |
40,987,969 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7717:Larp1b
|
UTSW |
3 |
40,926,879 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8060:Larp1b
|
UTSW |
3 |
40,939,837 (GRCm39) |
missense |
|
|
|
R8282:Larp1b
|
UTSW |
3 |
40,991,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8458:Larp1b
|
UTSW |
3 |
40,930,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9189:Larp1b
|
UTSW |
3 |
40,925,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Larp1b
|
UTSW |
3 |
40,930,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9628:Larp1b
|
UTSW |
3 |
40,916,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0021:Larp1b
|
UTSW |
3 |
40,921,929 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGCTAGCCTTCCTTTAC -3'
(R):5'- GTTTTCTCCACTGCAGGCTG -3'
Sequencing Primer
(F):5'- GTGGGCTAGCCTTCCTTTACTTTTG -3'
(R):5'- AGGCTGGCCCAACCTTCTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation