Incidental Mutation 'IGL01668:Larp4'
ID |
103377 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Larp4
|
Ensembl Gene |
ENSMUSG00000023025 |
Gene Name |
La ribonucleoprotein 4 |
Synonyms |
D330037H05Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.413)
|
Stock # |
IGL01668
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
99867946-99914239 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99885355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 69
(S69P)
|
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 damaging
Transcript: ENSMUST00000057632
AA Change: S127P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000086964 Gene: ENSMUSG00000023025 AA Change: S127P
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 damaging
Transcript: ENSMUST00000100206
AA Change: S128P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097780 Gene: ENSMUSG00000023025 AA Change: S128P
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: ENSMUST00000229553
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229891
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230521
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230956
AA Change: S129P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231160
AA Change: S69P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3d1 |
A |
G |
10: 80,554,993 (GRCm39) |
V444A |
possibly damaging |
Het |
Chd9 |
A |
T |
8: 91,753,404 (GRCm39) |
H1799L |
possibly damaging |
Het |
Cic |
C |
T |
7: 24,990,629 (GRCm39) |
P1108S |
possibly damaging |
Het |
Clba1 |
T |
C |
12: 112,773,264 (GRCm39) |
S86P |
probably damaging |
Het |
Cldn16 |
T |
A |
16: 26,301,296 (GRCm39) |
Y201* |
probably null |
Het |
Col6a6 |
C |
A |
9: 105,586,470 (GRCm39) |
R1850S |
probably damaging |
Het |
Cryge |
A |
G |
1: 65,087,857 (GRCm39) |
Y151H |
probably damaging |
Het |
Dhcr7 |
T |
A |
7: 143,397,048 (GRCm39) |
V180D |
probably damaging |
Het |
Dmwd |
C |
T |
7: 18,815,080 (GRCm39) |
R577W |
probably damaging |
Het |
Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
Gm5901 |
C |
T |
7: 105,026,771 (GRCm39) |
R180C |
probably benign |
Het |
Hook2 |
A |
T |
8: 85,720,207 (GRCm39) |
Y131F |
possibly damaging |
Het |
Hsf1 |
T |
C |
15: 76,381,162 (GRCm39) |
|
probably null |
Het |
Ighv1-62-3 |
A |
G |
12: 115,424,613 (GRCm39) |
|
probably benign |
Het |
Ikbke |
T |
G |
1: 131,184,675 (GRCm39) |
D666A |
probably benign |
Het |
Il1r1 |
C |
T |
1: 40,352,489 (GRCm39) |
T556I |
probably benign |
Het |
Lrrc27 |
G |
T |
7: 138,807,827 (GRCm39) |
|
probably benign |
Het |
Marchf2 |
A |
C |
17: 33,922,070 (GRCm39) |
W97G |
probably damaging |
Het |
Or4c10b |
C |
A |
2: 89,711,443 (GRCm39) |
P91Q |
probably benign |
Het |
Or5b21 |
A |
G |
19: 12,839,231 (GRCm39) |
I31V |
probably benign |
Het |
Or8k28 |
A |
G |
2: 86,285,746 (GRCm39) |
Y290H |
probably damaging |
Het |
Pah |
T |
A |
10: 87,414,123 (GRCm39) |
I324N |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,476,205 (GRCm39) |
E447G |
probably benign |
Het |
Prex2 |
T |
C |
1: 11,223,869 (GRCm39) |
V731A |
probably benign |
Het |
Prpsap2 |
A |
G |
11: 61,646,277 (GRCm39) |
V44A |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,415,941 (GRCm39) |
N1724D |
probably damaging |
Het |
Sap130 |
A |
G |
18: 31,813,493 (GRCm39) |
N517D |
probably damaging |
Het |
Slc13a3 |
A |
C |
2: 165,272,212 (GRCm39) |
F277C |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,339,119 (GRCm39) |
T86A |
probably benign |
Het |
Tbc1d32 |
A |
T |
10: 55,999,673 (GRCm39) |
V833D |
probably benign |
Het |
Washc2 |
A |
G |
6: 116,239,299 (GRCm39) |
D1290G |
probably damaging |
Het |
Wdr87-ps |
G |
A |
7: 29,236,855 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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 |
|
Posted On |
2014-01-21 |