Incidental Mutation 'R5357:Larp1b'
| ID |
434529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Larp1b
|
| Ensembl Gene |
ENSMUSG00000025762 |
| Gene Name |
La ribonucleoprotein 1B |
| Synonyms |
4933421B21Rik, Larp2, 1700108L22Rik |
| MMRRC Submission |
042936-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5357 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
40904263-40994669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40978950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 2
(E2G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099121]
|
| AlphaFold |
F6U5V1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000065411
|
| SMART Domains |
Protein: ENSMUSP00000066664
Gene: ENSMUSG00000025762
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DM15
|
31 |
65 |
1e-16 |
BLAST |
|
low complexity region
|
119 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099121
AA Change: E2G
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000096721
Gene: ENSMUSG00000025762
AA Change: E2G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
|
DM15
|
52 |
93 |
6.61e-18 |
SMART |
|
DM15
|
94 |
132 |
5.75e-18 |
SMART |
|
DM15
|
133 |
167 |
2.82e-1 |
SMART |
|
low complexity region
|
221 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192456
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,463 (GRCm39) |
V206A |
possibly damaging |
Het |
| 5730522E02Rik |
A |
T |
11: 25,598,148 (GRCm39) |
C102* |
probably null |
Het |
| Brsk2 |
C |
A |
7: 141,538,248 (GRCm39) |
D131E |
possibly damaging |
Het |
| Cacng7 |
T |
C |
7: 3,387,452 (GRCm39) |
F112L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,811,384 (GRCm39) |
C282* |
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
| Dyrk1b |
T |
C |
7: 27,884,743 (GRCm39) |
V326A |
possibly damaging |
Het |
| Eloa |
T |
C |
4: 135,736,559 (GRCm39) |
D563G |
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,253,623 (GRCm39) |
K489R |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,337,497 (GRCm39) |
E326G |
probably damaging |
Het |
| Gm1758 |
G |
A |
16: 14,320,218 (GRCm39) |
|
noncoding transcript |
Het |
| Grm8 |
A |
T |
6: 27,762,418 (GRCm39) |
L269Q |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,863,990 (GRCm39) |
I284T |
possibly damaging |
Het |
| Hyal6 |
T |
A |
6: 24,734,517 (GRCm39) |
M150K |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,898,113 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Krt76 |
T |
C |
15: 101,795,820 (GRCm39) |
K450R |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Map2k7 |
A |
T |
8: 4,294,461 (GRCm39) |
H253L |
probably damaging |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,559,780 (GRCm39) |
T248A |
possibly damaging |
Het |
| Mt1 |
T |
A |
8: 94,906,732 (GRCm39) |
C33S |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,491,463 (GRCm39) |
M1K |
probably null |
Het |
| Pak4 |
A |
G |
7: 28,263,831 (GRCm39) |
S302P |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,415,384 (GRCm39) |
Y66H |
probably benign |
Het |
| Pgm3 |
G |
A |
9: 86,438,310 (GRCm39) |
R451* |
probably null |
Het |
| Phf10 |
A |
T |
17: 15,174,275 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
G |
17: 24,784,764 (GRCm39) |
V402G |
probably damaging |
Het |
| Plekha4 |
G |
T |
7: 45,184,195 (GRCm39) |
V61F |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,740,708 (GRCm39) |
|
probably null |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,167,700 (GRCm39) |
H444R |
probably benign |
Het |
| Tcn2 |
T |
G |
11: 3,876,017 (GRCm39) |
D137A |
possibly damaging |
Het |
| Tnks2 |
G |
A |
19: 36,826,690 (GRCm39) |
|
silent |
Het |
| Trh |
T |
A |
6: 92,219,815 (GRCm39) |
D167V |
probably benign |
Het |
| Tshz1 |
C |
T |
18: 84,033,205 (GRCm39) |
G401D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,798,138 (GRCm39) |
Q453L |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,083 (GRCm39) |
K805* |
probably null |
Het |
| Wnt16 |
T |
G |
6: 22,291,231 (GRCm39) |
|
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,550,780 (GRCm39) |
V665E |
probably damaging |
Het |
| Zfp456 |
A |
T |
13: 67,520,328 (GRCm39) |
M63K |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,734,159 (GRCm39) |
Q584* |
probably null |
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 |
|
|
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'- CTGCAGTGTGAAAATGTGTGAG -3'
(R):5'- AAACACATCCCACTGGCATGTG -3'
Sequencing Primer
(F):5'- AAAATGTGTGAGTTGGTTTGCG -3'
(R):5'- ATGTGCAGCCCTTGGAGAAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation