Incidental Mutation 'R5409:Larp4'
| ID |
426468 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Larp4
|
| Ensembl Gene |
ENSMUSG00000023025 |
| Gene Name |
La ribonucleoprotein 4 |
| Synonyms |
D330037H05Rik |
| MMRRC Submission |
042978-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.444)
|
| Stock # |
R5409 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99867946-99914239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99883945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 61
(C61R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155529
(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: C60R
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000086964
Gene: ENSMUSG00000023025
AA Change: C60R
| 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: C61R
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097780
Gene: ENSMUSG00000023025
AA Change: C61R
| 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 damaging
Transcript: ENSMUST00000230521
AA Change: C61R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230956
AA Change: C62R
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231160
AA Change: C2R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,850,154 (GRCm39) |
L2002P |
probably damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,656,371 (GRCm39) |
T230A |
probably damaging |
Het |
| Anapc4 |
A |
G |
5: 53,005,941 (GRCm39) |
E316G |
probably damaging |
Het |
| Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
| Aurka |
T |
G |
2: 172,209,036 (GRCm39) |
Q33P |
possibly damaging |
Het |
| Ccn5 |
G |
A |
2: 163,667,158 (GRCm39) |
C53Y |
probably damaging |
Het |
| Cenpm |
T |
C |
15: 82,118,564 (GRCm39) |
T153A |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,622,452 (GRCm39) |
K538* |
probably null |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Col5a1 |
C |
T |
2: 27,850,457 (GRCm39) |
T518I |
unknown |
Het |
| Dis3 |
A |
T |
14: 99,323,368 (GRCm39) |
M566K |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 30,985,212 (GRCm39) |
R3869H |
probably damaging |
Het |
| Gm4775 |
A |
T |
14: 106,338,386 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk2 |
C |
T |
6: 38,706,977 (GRCm39) |
G637D |
probably damaging |
Het |
| Igkv4-61 |
T |
C |
6: 69,394,111 (GRCm39) |
K18E |
possibly damaging |
Het |
| Kcnk4 |
A |
G |
19: 6,903,578 (GRCm39) |
S324P |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,856,030 (GRCm39) |
F986L |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,021,920 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or5aq1b |
T |
C |
2: 86,902,214 (GRCm39) |
E88G |
possibly damaging |
Het |
| Or5h22 |
C |
T |
16: 58,894,559 (GRCm39) |
V295I |
possibly damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,098,619 (GRCm39) |
I359F |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,893,906 (GRCm39) |
|
probably null |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,303 (GRCm39) |
S493T |
possibly damaging |
Het |
| Rnf7l |
A |
T |
10: 63,257,403 (GRCm39) |
M39K |
possibly damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,268,070 (GRCm39) |
S1219P |
probably benign |
Het |
| Rprd1b |
T |
A |
2: 157,916,987 (GRCm39) |
F322L |
probably damaging |
Het |
| Sh3rf1 |
G |
A |
8: 61,827,279 (GRCm39) |
V678M |
probably benign |
Het |
| Smpd5 |
C |
A |
15: 76,179,914 (GRCm39) |
T321K |
probably damaging |
Het |
| Spag8 |
T |
A |
4: 43,653,134 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
T |
C |
11: 105,758,311 (GRCm39) |
C691R |
possibly damaging |
Het |
| Tnc |
A |
C |
4: 63,884,773 (GRCm39) |
M1834R |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,925,654 (GRCm39) |
Y961N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,700,893 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,280,706 (GRCm39) |
V47A |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,485,672 (GRCm39) |
D1676V |
possibly damaging |
Het |
| Vmn1r65 |
T |
C |
7: 6,012,012 (GRCm39) |
N74S |
possibly damaging |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,547 (GRCm39) |
F762S |
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 |
|
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'- CATTTGGGTACATAGAGTGCTACC -3'
(R):5'- TGTCATGTTTACGGAAATGACG -3'
Sequencing Primer
(F):5'- GGGTACATAGAGTGCTACCTTATCC -3'
(R):5'- CGGAGAGCTAAAGACACTAAGTTCTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation