Incidental Mutation 'R5149:Larp7'
ID |
395236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Larp7
|
Ensembl Gene |
ENSMUSG00000027968 |
Gene Name |
La ribonucleoprotein 7, transcriptional regulator |
Synonyms |
D3Wsu161e, C330027G06Rik |
MMRRC Submission |
042732-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5149 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
127330363-127346998 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 127334460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 510
(E510K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029588]
|
AlphaFold |
Q05CL8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029588
AA Change: E510K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029588 Gene: ENSMUSG00000027968 AA Change: E510K
Domain | Start | End | E-Value | Type |
LA
|
26 |
106 |
1.29e-30 |
SMART |
RRM
|
120 |
196 |
5.37e-15 |
SMART |
low complexity region
|
210 |
226 |
N/A |
INTRINSIC |
low complexity region
|
257 |
273 |
N/A |
INTRINSIC |
low complexity region
|
302 |
311 |
N/A |
INTRINSIC |
low complexity region
|
350 |
364 |
N/A |
INTRINSIC |
Pfam:RRM_3
|
442 |
540 |
1.3e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083479
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083513
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083548
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083618
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102297
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195976
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012] PHENOTYPE: Mice homozygous for a null mutation display complete perinatal lethality and a decrease in primordial germ cell number and proliferation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
A |
G |
16: 22,717,673 (GRCm39) |
T245A |
probably benign |
Het |
Akr1c13 |
G |
T |
13: 4,244,168 (GRCm39) |
V74L |
probably benign |
Het |
Amt |
G |
A |
9: 108,178,650 (GRCm39) |
V389I |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,535,957 (GRCm39) |
N159S |
probably benign |
Het |
Atp1a4 |
A |
G |
1: 172,059,572 (GRCm39) |
I840T |
probably damaging |
Het |
Capn1 |
T |
C |
19: 6,040,364 (GRCm39) |
|
probably null |
Het |
Col27a1 |
T |
C |
4: 63,249,664 (GRCm39) |
|
probably benign |
Het |
Cyp2j5 |
A |
G |
4: 96,547,744 (GRCm39) |
L166P |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dchs1 |
G |
A |
7: 105,404,865 (GRCm39) |
T2559I |
probably damaging |
Het |
Dnah12 |
C |
A |
14: 26,572,883 (GRCm39) |
S258* |
probably null |
Het |
Dpep1 |
A |
T |
8: 123,927,177 (GRCm39) |
T309S |
probably benign |
Het |
Epha5 |
A |
T |
5: 84,298,217 (GRCm39) |
F559L |
probably damaging |
Het |
Gm3409 |
T |
C |
5: 146,474,571 (GRCm39) |
I29T |
possibly damaging |
Het |
Grhl1 |
CAGAAGAAG |
CAGAAG |
12: 24,662,178 (GRCm39) |
|
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,267,209 (GRCm39) |
R941S |
probably damaging |
Het |
Helb |
C |
T |
10: 119,941,648 (GRCm39) |
E347K |
probably benign |
Het |
Ighv14-3 |
A |
G |
12: 114,023,710 (GRCm39) |
S36P |
probably damaging |
Het |
Klrb1c |
T |
A |
6: 128,760,670 (GRCm39) |
M211L |
probably benign |
Het |
Lrig1 |
C |
T |
6: 94,605,025 (GRCm39) |
R190Q |
possibly damaging |
Het |
Marchf6 |
A |
G |
15: 31,462,140 (GRCm39) |
S863P |
possibly damaging |
Het |
Mgst2 |
A |
G |
3: 51,589,958 (GRCm39) |
N132S |
probably benign |
Het |
Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
Or5w15 |
A |
T |
2: 87,567,749 (GRCm39) |
S306R |
probably benign |
Het |
Or6c6c |
T |
C |
10: 129,541,377 (GRCm39) |
V210A |
probably benign |
Het |
Papln |
A |
T |
12: 83,818,656 (GRCm39) |
|
probably null |
Het |
Poteg |
C |
T |
8: 27,971,671 (GRCm39) |
S395L |
possibly damaging |
Het |
Prox1 |
T |
A |
1: 189,879,250 (GRCm39) |
I643F |
possibly damaging |
Het |
Septin4 |
A |
G |
11: 87,480,071 (GRCm39) |
E211G |
probably damaging |
Het |
Serpinb6e |
A |
G |
13: 34,016,468 (GRCm39) |
F422L |
probably damaging |
Het |
Slc22a19 |
A |
G |
19: 7,688,503 (GRCm39) |
L19P |
probably damaging |
Het |
Snf8 |
G |
T |
11: 95,934,286 (GRCm39) |
A136S |
probably benign |
Het |
Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,075,000 (GRCm39) |
T2409A |
probably damaging |
Het |
Tat |
A |
G |
8: 110,723,450 (GRCm39) |
S313G |
probably benign |
Het |
Tep1 |
A |
T |
14: 51,074,855 (GRCm39) |
C1785* |
probably null |
Het |
Tmem132b |
A |
G |
5: 125,699,989 (GRCm39) |
S176G |
probably damaging |
Het |
Tnfrsf8 |
T |
C |
4: 145,029,675 (GRCm39) |
R42G |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,754,115 (GRCm39) |
D2124G |
possibly damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,046,598 (GRCm39) |
D1067E |
probably benign |
Het |
Tspan13 |
T |
C |
12: 36,074,065 (GRCm39) |
S24G |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,344,062 (GRCm39) |
S814P |
possibly damaging |
Het |
Zfp213 |
C |
A |
17: 23,780,373 (GRCm39) |
R49L |
probably damaging |
Het |
|
Other mutations in Larp7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02942:Larp7
|
APN |
3 |
127,337,844 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0358:Larp7
|
UTSW |
3 |
127,340,737 (GRCm39) |
critical splice donor site |
probably null |
|
R0601:Larp7
|
UTSW |
3 |
127,337,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R0714:Larp7
|
UTSW |
3 |
127,340,833 (GRCm39) |
missense |
probably damaging |
0.99 |
R0765:Larp7
|
UTSW |
3 |
127,339,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R0865:Larp7
|
UTSW |
3 |
127,337,884 (GRCm39) |
missense |
probably damaging |
0.99 |
R1902:Larp7
|
UTSW |
3 |
127,334,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Larp7
|
UTSW |
3 |
127,336,779 (GRCm39) |
missense |
probably benign |
|
R3618:Larp7
|
UTSW |
3 |
127,330,614 (GRCm39) |
nonsense |
probably null |
|
R3721:Larp7
|
UTSW |
3 |
127,340,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R4008:Larp7
|
UTSW |
3 |
127,334,519 (GRCm39) |
missense |
probably benign |
0.40 |
R4165:Larp7
|
UTSW |
3 |
127,330,611 (GRCm39) |
missense |
probably benign |
0.02 |
R4210:Larp7
|
UTSW |
3 |
127,340,603 (GRCm39) |
missense |
probably benign |
0.02 |
R4211:Larp7
|
UTSW |
3 |
127,340,603 (GRCm39) |
missense |
probably benign |
0.02 |
R4738:Larp7
|
UTSW |
3 |
127,339,694 (GRCm39) |
critical splice donor site |
probably null |
|
R6703:Larp7
|
UTSW |
3 |
127,337,873 (GRCm39) |
missense |
probably damaging |
0.99 |
R6803:Larp7
|
UTSW |
3 |
127,330,685 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7832:Larp7
|
UTSW |
3 |
127,337,916 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9286:Larp7
|
UTSW |
3 |
127,340,008 (GRCm39) |
unclassified |
probably benign |
|
R9647:Larp7
|
UTSW |
3 |
127,334,211 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAATCTTCTGCCAGTACCTCTG -3'
(R):5'- GAATACATTTTGACAACCTCTGTGG -3'
Sequencing Primer
(F):5'- TCTGCTCATGATCCCCTTAAAAAG -3'
(R):5'- GGCCACAATCTCAGAAGT -3'
|
Posted On |
2016-06-21 |