Incidental Mutation 'R1076:Larp4'
ID |
85668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Larp4
|
Ensembl Gene |
ENSMUSG00000023025 |
Gene Name |
La ribonucleoprotein 4 |
Synonyms |
D330037H05Rik |
MMRRC Submission |
039162-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.413)
|
Stock # |
R1076 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99867946-99914239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99895311 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 295
(T295A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155661
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057632]
[ENSMUST00000100206]
[ENSMUST00000230521]
[ENSMUST00000230956]
[ENSMUST00000231160]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057632
AA Change: T353A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086964 Gene: ENSMUSG00000023025 AA Change: T353A
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: T354A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000097780 Gene: ENSMUSG00000023025 AA Change: T354A
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 |
noncoding transcript
Transcript: ENSMUST00000229426
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229553
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229891
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230521
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230956
AA Change: T355A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231160
AA Change: T295A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Meta Mutation Damage Score |
0.0607 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang4 |
T |
C |
14: 52,001,759 (GRCm39) |
K63R |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,509,071 (GRCm39) |
N176D |
probably damaging |
Het |
Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
Cldn4 |
A |
G |
5: 134,975,191 (GRCm39) |
S137P |
probably damaging |
Het |
Cnn1 |
A |
T |
9: 22,019,165 (GRCm39) |
Q157L |
probably damaging |
Het |
Csn1s1 |
A |
T |
5: 87,824,242 (GRCm39) |
|
probably null |
Het |
Dennd3 |
C |
T |
15: 73,412,582 (GRCm39) |
H415Y |
probably damaging |
Het |
Dnpep |
A |
G |
1: 75,292,582 (GRCm39) |
|
probably benign |
Het |
Dram1 |
C |
A |
10: 88,161,246 (GRCm39) |
V208L |
probably damaging |
Het |
Elovl2 |
A |
G |
13: 41,343,583 (GRCm39) |
V115A |
possibly damaging |
Het |
Fryl |
C |
T |
5: 73,282,016 (GRCm39) |
|
probably benign |
Het |
Gsap |
A |
G |
5: 21,492,692 (GRCm39) |
T707A |
possibly damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ktn1 |
T |
A |
14: 47,932,095 (GRCm39) |
M674K |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,399,666 (GRCm39) |
|
probably benign |
Het |
Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
Mctp2 |
T |
G |
7: 71,835,615 (GRCm39) |
|
probably null |
Het |
Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
Neb |
A |
G |
2: 52,094,904 (GRCm39) |
Y4883H |
probably damaging |
Het |
Nsun6 |
A |
T |
2: 15,014,283 (GRCm39) |
C286S |
probably benign |
Het |
Pabpc4 |
T |
A |
4: 123,186,701 (GRCm39) |
D307E |
possibly damaging |
Het |
Pik3cg |
G |
A |
12: 32,245,713 (GRCm39) |
|
probably benign |
Het |
Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
Serpina3k |
A |
G |
12: 104,307,253 (GRCm39) |
T162A |
probably benign |
Het |
Sis |
T |
C |
3: 72,841,431 (GRCm39) |
T795A |
probably damaging |
Het |
Skint8 |
T |
A |
4: 111,784,416 (GRCm39) |
V14E |
probably damaging |
Het |
Slc2a1 |
T |
G |
4: 118,991,645 (GRCm39) |
M351R |
probably damaging |
Het |
Slc41a3 |
G |
A |
6: 90,621,142 (GRCm39) |
C394Y |
probably benign |
Het |
Srp54b |
T |
C |
12: 55,302,313 (GRCm39) |
|
probably benign |
Het |
Ulk2 |
G |
A |
11: 61,710,135 (GRCm39) |
H358Y |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,608,321 (GRCm39) |
M1572T |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,608,405 (GRCm39) |
I1544N |
possibly damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
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 |
|
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 |
R9059:Larp4
|
UTSW |
15 |
99,889,693 (GRCm39) |
missense |
probably benign |
0.26 |
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'- TGAGCATTGCAGAAGTGTGTGAGAG -3'
(R):5'- AACTGgggggtagagagatggc -3'
Sequencing Primer
(F):5'- GCTCCCTTTCCCAATGGTAGTTT -3'
(R):5'- agagagagagagaaggcaaaac -3'
|
Posted On |
2013-11-18 |