Incidental Mutation 'R1337:Larp1b'
ID |
156894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Larp1b
|
Ensembl Gene |
ENSMUSG00000025762 |
Gene Name |
La ribonucleoprotein 1B |
Synonyms |
4933421B21Rik, Larp2, 1700108L22Rik |
MMRRC Submission |
039402-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1337 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
40904263-40994669 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40987837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 20
(P20S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096721
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026862]
[ENSMUST00000099121]
|
AlphaFold |
F6U5V1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026862
|
SMART Domains |
Protein: ENSMUSP00000026862 Gene: ENSMUSG00000025762
Domain | Start | End | E-Value | Type |
low complexity region
|
75 |
85 |
N/A |
INTRINSIC |
|
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 damaging
Transcript: ENSMUST00000099121
AA Change: P20S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096721 Gene: ENSMUSG00000025762 AA Change: P20S
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194006
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199797
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197214
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730522E02Rik |
A |
G |
11: 25,719,033 (GRCm39) |
S37P |
unknown |
Het |
Abca12 |
T |
C |
1: 71,333,978 (GRCm39) |
I1175V |
probably benign |
Het |
Ager |
G |
T |
17: 34,819,596 (GRCm39) |
|
probably null |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Cacna1c |
A |
G |
6: 118,604,416 (GRCm39) |
I1278T |
probably damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,645,721 (GRCm39) |
V1598A |
possibly damaging |
Het |
Cdk12 |
T |
C |
11: 98,136,497 (GRCm39) |
|
probably null |
Het |
Ces2g |
A |
T |
8: 105,690,597 (GRCm39) |
Y126F |
possibly damaging |
Het |
Ehbp1l1 |
A |
T |
19: 5,768,258 (GRCm39) |
M1015K |
probably benign |
Het |
Engase |
A |
G |
11: 118,373,400 (GRCm39) |
T248A |
possibly damaging |
Het |
Gsdma |
C |
T |
11: 98,560,533 (GRCm39) |
Q162* |
probably null |
Het |
Hapln3 |
T |
C |
7: 78,767,824 (GRCm39) |
E190G |
probably benign |
Het |
Hdc |
T |
C |
2: 126,458,196 (GRCm39) |
Q42R |
probably benign |
Het |
Macf1 |
T |
G |
4: 123,370,068 (GRCm39) |
R1564S |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,412,361 (GRCm39) |
Y1769C |
unknown |
Het |
Nup88 |
T |
A |
11: 70,835,716 (GRCm39) |
Q576L |
probably damaging |
Het |
Or51f1 |
T |
C |
7: 102,506,078 (GRCm39) |
N137S |
probably benign |
Het |
Or7g21 |
A |
G |
9: 19,033,099 (GRCm39) |
I280V |
probably benign |
Het |
Prune2 |
C |
T |
19: 17,096,971 (GRCm39) |
S825L |
possibly damaging |
Het |
Ryr3 |
C |
A |
2: 112,610,308 (GRCm39) |
M2301I |
possibly damaging |
Het |
Sdk2 |
A |
C |
11: 113,723,157 (GRCm39) |
V1278G |
possibly damaging |
Het |
Sertad3 |
T |
C |
7: 27,175,866 (GRCm39) |
L100P |
probably damaging |
Het |
Slco5a1 |
T |
C |
1: 13,009,366 (GRCm39) |
T370A |
probably benign |
Het |
Srrm1 |
A |
G |
4: 135,074,044 (GRCm39) |
|
probably null |
Het |
Stk32a |
A |
G |
18: 43,394,414 (GRCm39) |
D121G |
probably benign |
Het |
Ttc7 |
A |
T |
17: 87,597,724 (GRCm39) |
R99W |
probably damaging |
Het |
Xkr9 |
C |
A |
1: 13,771,348 (GRCm39) |
S288Y |
possibly damaging |
Het |
Zfp644 |
A |
G |
5: 106,785,420 (GRCm39) |
S376P |
probably damaging |
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 |
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'- GATACTGCGAAGCTGCTAGACAGG -3'
(R):5'- GCACGGGCATCTTACCACTTAGAC -3'
Sequencing Primer
(F):5'- GGATCTTCTGTGTCCACCTCTG -3'
(R):5'- GCATCTTACCACTTAGACTGAGC -3'
|
Posted On |
2014-02-11 |