Incidental Mutation 'R3439:Larp7-ps'
| ID |
267307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Larp7-ps
|
| Ensembl Gene |
ENSMUSG00000066107 |
| Gene Name |
La ribonucleoprotein 7, transcriptional regulator, pseudogene |
| Synonyms |
Gm12666 |
| MMRRC Submission |
040657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R3439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
92078981-92079986 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 92079919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 23
(V23G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123179]
|
| AlphaFold |
A2AMD0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123179
AA Change: V23G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122212
Gene: ENSMUSG00000066107
AA Change: V23G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
73 |
9.8e-9 |
SMART |
|
low complexity region
|
87 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
134 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
246 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4212 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
C |
A |
15: 10,381,511 (GRCm39) |
P255Q |
probably benign |
Het |
| Cdcp3 |
T |
C |
7: 130,790,508 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,873,322 (GRCm39) |
Y2458H |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,343,992 (GRCm39) |
T1779A |
probably damaging |
Het |
| Glb1l |
A |
T |
1: 75,179,264 (GRCm39) |
C222S |
probably damaging |
Het |
| Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
| Helq |
T |
C |
5: 100,946,170 (GRCm39) |
E57G |
probably damaging |
Het |
| Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
| Lingo1 |
T |
C |
9: 56,528,017 (GRCm39) |
T191A |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
| Med13 |
T |
C |
11: 86,176,123 (GRCm39) |
D1624G |
probably damaging |
Het |
| Mthfsd |
A |
G |
8: 121,825,860 (GRCm39) |
V218A |
possibly damaging |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,640,615 (GRCm39) |
S314P |
probably benign |
Het |
| Nwd2 |
G |
A |
5: 63,961,895 (GRCm39) |
R493H |
probably benign |
Het |
| Or4f58 |
T |
C |
2: 111,851,792 (GRCm39) |
M136V |
possibly damaging |
Het |
| Or5an11 |
A |
T |
19: 12,245,759 (GRCm39) |
H55L |
possibly damaging |
Het |
| Palm |
C |
T |
10: 79,652,618 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,162,752 (GRCm39) |
E1115G |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,096,359 (GRCm39) |
F577L |
probably benign |
Het |
| Rnpepl1 |
A |
T |
1: 92,844,662 (GRCm39) |
T385S |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,356,081 (GRCm39) |
I35F |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,365,187 (GRCm39) |
S623N |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,354,700 (GRCm39) |
E1380G |
unknown |
Het |
| Tet2 |
G |
T |
3: 133,172,592 (GRCm39) |
A1890D |
possibly damaging |
Het |
| Tfr2 |
G |
T |
5: 137,572,913 (GRCm39) |
V215F |
probably benign |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vwde |
T |
A |
6: 13,208,374 (GRCm39) |
L169F |
probably damaging |
Het |
|
| Other mutations in Larp7-ps |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01373:Larp7-ps
|
APN |
4 |
92,079,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01670:Larp7-ps
|
APN |
4 |
92,079,737 (GRCm39) |
splice site |
probably null |
|
|
IGL02690:Larp7-ps
|
APN |
4 |
92,079,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03052:Larp7-ps
|
UTSW |
4 |
92,079,287 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2094:Larp7-ps
|
UTSW |
4 |
92,079,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2567:Larp7-ps
|
UTSW |
4 |
92,079,560 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3438:Larp7-ps
|
UTSW |
4 |
92,079,919 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4388:Larp7-ps
|
UTSW |
4 |
92,079,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4710:Larp7-ps
|
UTSW |
4 |
92,079,212 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5810:Larp7-ps
|
UTSW |
4 |
92,079,820 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6969:Larp7-ps
|
UTSW |
4 |
92,079,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Larp7-ps
|
UTSW |
4 |
92,079,506 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9568:Larp7-ps
|
UTSW |
4 |
92,079,915 (GRCm39) |
nonsense |
probably null |
|
|
X0067:Larp7-ps
|
UTSW |
4 |
92,079,571 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Larp7-ps
|
UTSW |
4 |
92,079,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Larp7-ps
|
UTSW |
4 |
92,079,473 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATTTGTTACTCTTGCTAACCCTG -3'
(R):5'- ACAGTTACACACAGTTATTGCCAC -3'
Sequencing Primer
(F):5'- ACTCTTGCTAACCCTGTGCTTTTTC -3'
(R):5'- AGGAGTTGCTCCCCAAAA -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation