Incidental Mutation 'IGL01687:Larp4'
| ID |
103988 |
| 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 # |
IGL01687
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99867946-99914239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99894369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 213
(T213A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000057632
AA Change: T271A
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000086964
Gene: ENSMUSG00000023025
AA Change: T271A
| 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 |
possibly damaging
Transcript: ENSMUST00000100206
AA Change: T272A
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097780
Gene: ENSMUSG00000023025
AA Change: T272A
| 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 |
possibly damaging
Transcript: ENSMUST00000230956
AA Change: T273A
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231160
AA Change: T213A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,306,769 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,336,067 (GRCm39) |
T375M |
probably damaging |
Het |
| Col1a2 |
A |
T |
6: 4,520,258 (GRCm39) |
R348* |
probably null |
Het |
| Dph6 |
A |
T |
2: 114,475,259 (GRCm39) |
Y85* |
probably null |
Het |
| Etl4 |
C |
T |
2: 20,534,898 (GRCm39) |
H118Y |
probably damaging |
Het |
| Gprc5b |
A |
G |
7: 118,583,209 (GRCm39) |
F220S |
possibly damaging |
Het |
| Mfn1 |
T |
C |
3: 32,617,515 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,063,531 (GRCm39) |
V579A |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,077,695 (GRCm39) |
I65M |
probably damaging |
Het |
| Or2k2 |
A |
T |
4: 58,785,047 (GRCm39) |
L225Q |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,707,982 (GRCm39) |
|
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,194,106 (GRCm39) |
T17A |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,956 (GRCm39) |
L399P |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,257,243 (GRCm39) |
V396A |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,442,798 (GRCm39) |
S522P |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,473,574 (GRCm39) |
V484E |
possibly damaging |
Het |
| Zfp871 |
T |
A |
17: 32,994,618 (GRCm39) |
T167S |
probably benign |
Het |
| Zmat3 |
C |
T |
3: 32,395,680 (GRCm39) |
E276K |
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 |
|
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 |
Incidental Mutation