Incidental Mutation 'R0975:Larp1b'
ID |
81040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Larp1b
|
Ensembl Gene |
ENSMUSG00000025762 |
Gene Name |
La ribonucleoprotein 1B |
Synonyms |
4933421B21Rik, Larp2, 1700108L22Rik |
MMRRC Submission |
039104-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0975 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
40904263-40994669 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40924925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 134
(E134G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048490]
[ENSMUST00000191805]
[ENSMUST00000191872]
|
AlphaFold |
F6U5V1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048490
AA Change: E181G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000037127 Gene: ENSMUSG00000025762 AA Change: E181G
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 |
possibly damaging
Transcript: ENSMUST00000191805
AA Change: E181G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141487 Gene: ENSMUSG00000025762 AA Change: E181G
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 damaging
Transcript: ENSMUST00000191872
AA Change: E134G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142106 Gene: ENSMUSG00000025762 AA Change: E134G
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 |
noncoding transcript
Transcript: ENSMUST00000191998
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193795
AA Change: E162G
PolyPhen 2
Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)
|
Meta Mutation Damage Score |
0.1013 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
A |
G |
8: 44,078,155 (GRCm39) |
F690L |
probably benign |
Het |
Ampd2 |
T |
C |
3: 107,984,437 (GRCm39) |
Y464C |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,888,229 (GRCm39) |
|
probably benign |
Het |
Arhgap5 |
T |
G |
12: 52,563,927 (GRCm39) |
N299K |
possibly damaging |
Het |
Atl3 |
G |
A |
19: 7,498,500 (GRCm39) |
W210* |
probably null |
Het |
Bag1 |
T |
C |
4: 40,937,152 (GRCm39) |
N320D |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,898,274 (GRCm39) |
N24D |
probably damaging |
Het |
Ccdc88b |
G |
A |
19: 6,823,993 (GRCm39) |
P1420L |
probably damaging |
Het |
Cdr2 |
G |
A |
7: 120,557,614 (GRCm39) |
P304S |
probably benign |
Het |
Col20a1 |
A |
T |
2: 180,648,619 (GRCm39) |
I969F |
possibly damaging |
Het |
Coro1c |
C |
G |
5: 114,020,182 (GRCm39) |
R11P |
probably damaging |
Het |
Cracd |
T |
C |
5: 77,004,165 (GRCm39) |
|
probably benign |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Cyp2c67 |
T |
G |
19: 39,597,622 (GRCm39) |
K459Q |
possibly damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,691,802 (GRCm39) |
T374A |
possibly damaging |
Het |
Efcab6 |
T |
A |
15: 83,857,532 (GRCm39) |
N289I |
probably benign |
Het |
Elmo1 |
T |
A |
13: 20,435,307 (GRCm39) |
I126N |
probably damaging |
Het |
Esr2 |
C |
T |
12: 76,192,082 (GRCm39) |
M315I |
possibly damaging |
Het |
Fbxw14 |
T |
A |
9: 109,100,307 (GRCm39) |
N449I |
probably benign |
Het |
Frmpd1 |
C |
T |
4: 45,279,000 (GRCm39) |
T575I |
probably benign |
Het |
Gm14403 |
T |
G |
2: 177,201,217 (GRCm39) |
N145K |
probably damaging |
Het |
Gnl2 |
A |
G |
4: 124,942,171 (GRCm39) |
D392G |
probably damaging |
Het |
Hmcn1 |
A |
C |
1: 150,453,128 (GRCm39) |
S5396A |
probably benign |
Het |
Hoxd12 |
G |
T |
2: 74,506,278 (GRCm39) |
R230L |
probably damaging |
Het |
Khsrp |
T |
A |
17: 57,334,066 (GRCm39) |
D154V |
possibly damaging |
Het |
Klhl28 |
C |
T |
12: 64,998,462 (GRCm39) |
R344H |
possibly damaging |
Het |
Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
Mcm9 |
G |
A |
10: 53,414,742 (GRCm39) |
Q113* |
probably null |
Het |
Mug1 |
A |
T |
6: 121,855,498 (GRCm39) |
D944V |
probably damaging |
Het |
Myh6 |
A |
G |
14: 55,190,826 (GRCm39) |
S950P |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Or1n1b |
C |
A |
2: 36,780,562 (GRCm39) |
M99I |
possibly damaging |
Het |
Or5k14 |
T |
A |
16: 58,693,513 (GRCm39) |
|
probably null |
Het |
Plcb4 |
T |
C |
2: 135,829,832 (GRCm39) |
|
probably benign |
Het |
Pomt1 |
T |
A |
2: 32,143,907 (GRCm39) |
|
probably null |
Het |
Prpf8 |
T |
C |
11: 75,399,500 (GRCm39) |
|
probably benign |
Het |
Rad9b |
C |
T |
5: 122,472,320 (GRCm39) |
|
probably null |
Het |
Recql5 |
A |
C |
11: 115,814,082 (GRCm39) |
D240E |
probably damaging |
Het |
Sec31a |
A |
C |
5: 100,543,763 (GRCm39) |
|
probably null |
Het |
Slc5a4b |
A |
G |
10: 75,917,241 (GRCm39) |
V265A |
probably benign |
Het |
Snx29 |
A |
T |
16: 11,165,735 (GRCm39) |
D7V |
possibly damaging |
Het |
Stk31 |
C |
G |
6: 49,400,343 (GRCm39) |
D389E |
probably damaging |
Het |
Tmeff2 |
T |
C |
1: 50,977,364 (GRCm39) |
|
probably benign |
Het |
Tmem131 |
C |
T |
1: 36,893,966 (GRCm39) |
A146T |
probably damaging |
Het |
Tmem63c |
T |
A |
12: 87,121,843 (GRCm39) |
|
probably benign |
Het |
Tonsl |
T |
A |
15: 76,523,132 (GRCm39) |
D119V |
probably damaging |
Het |
Trmt10a |
G |
A |
3: 137,862,570 (GRCm39) |
E287K |
probably benign |
Het |
Vmn1r192 |
T |
A |
13: 22,371,633 (GRCm39) |
M196L |
probably damaging |
Het |
Vmn2r9 |
T |
G |
5: 108,991,169 (GRCm39) |
T731P |
probably damaging |
Het |
Wfdc6b |
G |
A |
2: 164,455,705 (GRCm39) |
M11I |
probably damaging |
Het |
Ypel1 |
T |
A |
16: 16,925,077 (GRCm39) |
T32S |
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,787,814 (GRCm39) |
T327A |
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 |
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 |
R8429:Larp1b
|
UTSW |
3 |
40,931,662 (GRCm39) |
makesense |
probably null |
|
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'- AGCTATTTCAGTAGTCCTCTGACACGA -3'
(R):5'- GCATCTCAAATGCCTAATCCCATTGCC -3'
Sequencing Primer
(F):5'- TGACACGATGGGTCAGCTAATC -3'
(R):5'- CACACCTGTGCCATCATCATAG -3'
|
Posted On |
2013-11-07 |