Incidental Mutation 'R9059:Larp4'
ID |
688887 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Larp4
|
Ensembl Gene |
ENSMUSG00000023025 |
Gene Name |
La ribonucleoprotein 4 |
Synonyms |
D330037H05Rik |
MMRRC Submission |
068885-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.444)
|
Stock # |
R9059 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99867946-99914239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99889693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 204
(E204G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057632]
[ENSMUST00000100206]
[ENSMUST00000230521]
[ENSMUST00000230956]
[ENSMUST00000231160]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057632
AA Change: E203G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000086964 Gene: ENSMUSG00000023025 AA Change: E203G
Domain | Start | End | E-Value | Type |
LA
|
112 |
190 |
2.44e-40 |
SMART |
RRM
|
195 |
265 |
3.28e-2 |
SMART |
low complexity region
|
375 |
388 |
N/A |
INTRINSIC |
low complexity region
|
433 |
453 |
N/A |
INTRINSIC |
low complexity region
|
457 |
470 |
N/A |
INTRINSIC |
low complexity region
|
651 |
663 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100206
AA Change: E204G
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000097780 Gene: ENSMUSG00000023025 AA Change: E204G
Domain | Start | End | E-Value | Type |
LA
|
113 |
191 |
2.44e-40 |
SMART |
RRM
|
196 |
266 |
3.28e-2 |
SMART |
low complexity region
|
376 |
389 |
N/A |
INTRINSIC |
low complexity region
|
434 |
454 |
N/A |
INTRINSIC |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
low complexity region
|
652 |
664 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230521
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230956
AA Change: E205G
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231160
AA Change: E145G
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
Meta Mutation Damage Score |
0.2065 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030624G23Rik |
A |
T |
12: 24,124,732 (GRCm39) |
D48E |
probably benign |
Het |
Ablim2 |
A |
G |
5: 35,959,850 (GRCm39) |
T101A |
probably damaging |
Het |
Acot8 |
A |
G |
2: 164,634,829 (GRCm39) |
S316P |
probably benign |
Het |
Acta2 |
G |
T |
19: 34,219,155 (GRCm39) |
A349D |
possibly damaging |
Het |
Adgrv1 |
C |
A |
13: 81,562,692 (GRCm39) |
|
probably null |
Het |
Ankrd55 |
A |
G |
13: 112,455,073 (GRCm39) |
D57G |
probably damaging |
Het |
Azin2 |
A |
G |
4: 128,828,440 (GRCm39) |
Y351H |
probably benign |
Het |
Ccdc142 |
T |
C |
6: 83,079,400 (GRCm39) |
C246R |
probably damaging |
Het |
Col25a1 |
C |
A |
3: 130,268,499 (GRCm39) |
Q179K |
unknown |
Het |
Ddx46 |
C |
T |
13: 55,799,921 (GRCm39) |
A277V |
probably benign |
Het |
Diaph1 |
T |
A |
18: 38,022,798 (GRCm39) |
N792I |
possibly damaging |
Het |
Dnah11 |
G |
A |
12: 118,094,578 (GRCm39) |
P830L |
probably benign |
Het |
Dnah3 |
C |
G |
7: 119,684,368 (GRCm39) |
R252S |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,245,812 (GRCm39) |
D550G |
probably benign |
Het |
Dph3 |
T |
C |
14: 31,807,384 (GRCm39) |
N31D |
probably benign |
Het |
Dsg1c |
A |
T |
18: 20,408,306 (GRCm39) |
T452S |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,604,182 (GRCm39) |
M883K |
possibly damaging |
Het |
Efcab3 |
T |
C |
11: 104,642,689 (GRCm39) |
V1104A |
possibly damaging |
Het |
Epn1 |
T |
G |
7: 5,098,067 (GRCm39) |
S293A |
probably benign |
Het |
Fggy |
T |
A |
4: 95,688,841 (GRCm39) |
Y318* |
probably null |
Het |
Hip1 |
A |
G |
5: 135,457,597 (GRCm39) |
L703P |
probably benign |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Igf2r |
GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC |
GCAGCCCTCCATAGGCGC |
17: 12,970,180 (GRCm39) |
|
probably null |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Lbr |
A |
G |
1: 181,645,119 (GRCm39) |
I511T |
|
Het |
Lingo3 |
G |
T |
10: 80,670,523 (GRCm39) |
T469K |
probably benign |
Het |
Lrrc30 |
A |
T |
17: 67,938,798 (GRCm39) |
W261R |
probably damaging |
Het |
Man2b1 |
T |
C |
8: 85,818,155 (GRCm39) |
V442A |
probably damaging |
Het |
Mroh3 |
T |
A |
1: 136,109,533 (GRCm39) |
R891S |
probably benign |
Het |
Mtcl1 |
T |
A |
17: 66,650,606 (GRCm39) |
M1620L |
probably benign |
Het |
Myo18a |
T |
C |
11: 77,668,899 (GRCm39) |
V253A |
possibly damaging |
Het |
Or5b101 |
A |
T |
19: 13,005,277 (GRCm39) |
C139S |
probably damaging |
Het |
Pcdhb22 |
A |
T |
18: 37,652,722 (GRCm39) |
N140Y |
probably damaging |
Het |
Ppp1r9b |
T |
C |
11: 94,883,254 (GRCm39) |
V294A |
probably benign |
Het |
Ptk7 |
A |
T |
17: 46,877,117 (GRCm39) |
D980E |
probably damaging |
Het |
Rdh11 |
T |
A |
12: 79,238,713 (GRCm39) |
|
probably benign |
Het |
Sec23ip |
T |
G |
7: 128,365,805 (GRCm39) |
L558R |
probably damaging |
Het |
Slc22a26 |
C |
T |
19: 7,762,559 (GRCm39) |
M460I |
probably benign |
Het |
Smc1b |
G |
A |
15: 85,004,875 (GRCm39) |
Q400* |
probably null |
Het |
Spg11 |
T |
C |
2: 121,918,788 (GRCm39) |
E947G |
probably damaging |
Het |
Stab1 |
T |
C |
14: 30,876,805 (GRCm39) |
I840V |
probably benign |
Het |
Tlk1 |
T |
C |
2: 70,617,277 (GRCm39) |
T68A |
possibly damaging |
Het |
Traip |
A |
G |
9: 107,840,549 (GRCm39) |
I273V |
probably benign |
Het |
Trim30c |
T |
G |
7: 104,031,272 (GRCm39) |
*514C |
probably null |
Het |
U2surp |
A |
G |
9: 95,363,716 (GRCm39) |
Y615H |
probably damaging |
Het |
|
Other mutations in Larp4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00503:Larp4
|
APN |
15 |
99,885,302 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01668:Larp4
|
APN |
15 |
99,885,355 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01687:Larp4
|
APN |
15 |
99,894,369 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02105:Larp4
|
APN |
15 |
99,883,952 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02676:Larp4
|
APN |
15 |
99,888,302 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03286:Larp4
|
APN |
15 |
99,883,967 (GRCm39) |
missense |
probably damaging |
1.00 |
Skewer
|
UTSW |
15 |
99,905,611 (GRCm39) |
critical splice donor site |
probably null |
|
R1076:Larp4
|
UTSW |
15 |
99,895,311 (GRCm39) |
missense |
probably benign |
0.00 |
R1996:Larp4
|
UTSW |
15 |
99,882,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R2183:Larp4
|
UTSW |
15 |
99,909,778 (GRCm39) |
missense |
probably benign |
0.16 |
R2260:Larp4
|
UTSW |
15 |
99,895,277 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3777:Larp4
|
UTSW |
15 |
99,888,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R3916:Larp4
|
UTSW |
15 |
99,888,284 (GRCm39) |
missense |
probably benign |
0.00 |
R3962:Larp4
|
UTSW |
15 |
99,910,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R5059:Larp4
|
UTSW |
15 |
99,903,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R5081:Larp4
|
UTSW |
15 |
99,870,898 (GRCm39) |
intron |
probably benign |
|
R5104:Larp4
|
UTSW |
15 |
99,883,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R5409:Larp4
|
UTSW |
15 |
99,883,945 (GRCm39) |
missense |
probably damaging |
0.98 |
R5436:Larp4
|
UTSW |
15 |
99,883,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R6895:Larp4
|
UTSW |
15 |
99,905,611 (GRCm39) |
critical splice donor site |
probably null |
|
R7316:Larp4
|
UTSW |
15 |
99,898,898 (GRCm39) |
missense |
probably benign |
|
R7483:Larp4
|
UTSW |
15 |
99,889,659 (GRCm39) |
missense |
probably benign |
0.01 |
R7510:Larp4
|
UTSW |
15 |
99,891,258 (GRCm39) |
missense |
probably benign |
0.07 |
R8131:Larp4
|
UTSW |
15 |
99,892,570 (GRCm39) |
missense |
probably damaging |
0.99 |
R8263:Larp4
|
UTSW |
15 |
99,883,961 (GRCm39) |
missense |
probably benign |
0.00 |
R8322:Larp4
|
UTSW |
15 |
99,908,237 (GRCm39) |
missense |
probably benign |
0.01 |
R8671:Larp4
|
UTSW |
15 |
99,908,339 (GRCm39) |
missense |
probably benign |
0.01 |
R9151:Larp4
|
UTSW |
15 |
99,888,205 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9444:Larp4
|
UTSW |
15 |
99,909,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAGGAAGTTTTGGCAATTTACC -3'
(R):5'- TGTCATTCAGGTCAATCCAATCC -3'
Sequencing Primer
(F):5'- GGCATCACTAGTATCATTACC -3'
(R):5'- TTCAGGTCAATCCAATCCATTAAAAC -3'
|
Posted On |
2021-11-19 |