Incidental Mutation 'R1119:Larp1b'
| ID |
97686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Larp1b
|
| Ensembl Gene |
ENSMUSG00000025762 |
| Gene Name |
La ribonucleoprotein 1B |
| Synonyms |
4933421B21Rik, Larp2, 1700108L22Rik |
| MMRRC Submission |
039192-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1119 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
40904263-40994669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 40987963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 62
(R62S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000099121
AA Change: R62S
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096721
Gene: ENSMUSG00000025762
AA Change: R62S
| 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: ENSMUST00000197214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199797
|
| Meta Mutation Damage Score |
0.1599 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
C |
7: 82,189,525 (GRCm39) |
E583A |
probably damaging |
Het |
| Aoah |
T |
A |
13: 21,099,108 (GRCm39) |
|
probably benign |
Het |
| Atf7ip2 |
A |
G |
16: 10,058,476 (GRCm39) |
K305R |
possibly damaging |
Het |
| Bltp1 |
T |
G |
3: 37,041,194 (GRCm39) |
V2524G |
probably damaging |
Het |
| Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,463,873 (GRCm39) |
Q327* |
probably null |
Het |
| Ckap2l |
A |
T |
2: 129,114,492 (GRCm39) |
|
probably benign |
Het |
| Cul2 |
A |
G |
18: 3,419,335 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,395,578 (GRCm39) |
V172M |
probably damaging |
Het |
| Drp2 |
T |
C |
X: 133,342,071 (GRCm39) |
L545P |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,101,361 (GRCm39) |
|
probably benign |
Het |
| Gipc2 |
A |
G |
3: 151,799,833 (GRCm39) |
F299S |
probably damaging |
Het |
| Gsk3b |
T |
C |
16: 38,028,346 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hikeshi |
A |
G |
7: 89,584,938 (GRCm39) |
S89P |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
| Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
| Lgr5 |
A |
T |
10: 115,296,716 (GRCm39) |
|
probably null |
Het |
| Lpin1 |
C |
A |
12: 16,613,722 (GRCm39) |
D449Y |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,242,826 (GRCm39) |
I31L |
probably benign |
Het |
| Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
| Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,083,862 (GRCm39) |
D572E |
probably benign |
Het |
| Nxpe5 |
G |
A |
5: 138,237,658 (GRCm39) |
D61N |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,290,544 (GRCm39) |
H376Q |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
| Pcdhb14 |
G |
A |
18: 37,581,640 (GRCm39) |
V249M |
probably damaging |
Het |
| Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
| Pik3r6 |
C |
T |
11: 68,436,698 (GRCm39) |
T654I |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,303,552 (GRCm39) |
Y295C |
possibly damaging |
Het |
| Sec16b |
A |
G |
1: 157,392,404 (GRCm39) |
D924G |
possibly damaging |
Het |
| Setd1b |
C |
A |
5: 123,285,779 (GRCm39) |
T275K |
unknown |
Het |
| Sgcb |
T |
A |
5: 73,801,757 (GRCm39) |
K36I |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,695,619 (GRCm39) |
D599G |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
| Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
| Tax1bp1 |
C |
A |
6: 52,718,933 (GRCm39) |
|
probably benign |
Het |
| Thnsl1 |
A |
G |
2: 21,217,857 (GRCm39) |
N16S |
probably damaging |
Het |
| Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,365 (GRCm39) |
Q576L |
possibly damaging |
Het |
| Zfp62 |
G |
T |
11: 49,107,517 (GRCm39) |
R536L |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
possibly 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 |
|
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'- TGTCCACCAGCATTCACACGAG -3'
(R):5'- GGCAGCTTCAAATTAAACACGCCTC -3'
Sequencing Primer
(F):5'- TCTCGTGATGAGAGTCCAGC -3'
(R):5'- CTGAGATTCTCGGAAATCTGTTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation