Incidental Mutation 'R3786:Hnrnpl'
| ID |
272255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpl
|
| Ensembl Gene |
ENSMUSG00000015165 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein L |
| Synonyms |
Hnrpl, D830027H13Rik |
| MMRRC Submission |
040753-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3786 (G1)
|
| Quality Score |
137 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28507971-28521693 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 28510436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038572]
[ENSMUST00000172529]
[ENSMUST00000172884]
[ENSMUST00000174548]
[ENSMUST00000174882]
|
| AlphaFold |
Q8R081 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000038572
AA Change: K34R
|
| SMART Domains |
Protein: ENSMUSP00000049407
Gene: ENSMUSG00000015165
AA Change: K34R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
RRM
|
100 |
169 |
9.8e-9 |
SMART |
|
RRM
|
191 |
261 |
4.75e-7 |
SMART |
|
low complexity region
|
314 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
374 |
N/A |
INTRINSIC |
|
RRM
|
380 |
449 |
5.09e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172529
|
| SMART Domains |
Protein: ENSMUSP00000133932
Gene: ENSMUSG00000015165
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM
|
1 |
39 |
9e-20 |
BLAST |
|
RRM
|
61 |
131 |
4.75e-7 |
SMART |
|
low complexity region
|
184 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
244 |
N/A |
INTRINSIC |
|
RRM
|
250 |
319 |
5.09e-7 |
SMART |
|
Blast:RRM_2
|
369 |
442 |
6e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172841
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172884
|
| SMART Domains |
Protein: ENSMUSP00000134271
Gene: ENSMUSG00000015165
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM
|
1 |
39 |
1e-21 |
BLAST |
|
SCOP:d1qm9a1
|
3 |
61 |
3e-3 |
SMART |
|
Pfam:RRM_6
|
67 |
113 |
5.7e-5 |
PFAM |
|
Pfam:RRM_1
|
70 |
113 |
1.3e-5 |
PFAM |
|
Pfam:RRM_5
|
78 |
113 |
9.5e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174396
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174548
AA Change: K34R
|
| SMART Domains |
Protein: ENSMUSP00000133728
Gene: ENSMUSG00000015165
AA Change: K34R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
RRM
|
100 |
169 |
9.8e-9 |
SMART |
|
RRM
|
191 |
261 |
4.75e-7 |
SMART |
|
low complexity region
|
314 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
374 |
N/A |
INTRINSIC |
|
RRM
|
380 |
449 |
5.09e-7 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174477
AA Change: K25R
|
| SMART Domains |
Protein: ENSMUSP00000134734
Gene: ENSMUSG00000015165
AA Change: K25R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
78 |
N/A |
INTRINSIC |
|
RRM
|
92 |
161 |
9.8e-9 |
SMART |
|
RRM
|
183 |
253 |
4.75e-7 |
SMART |
|
low complexity region
|
339 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
403 |
N/A |
INTRINSIC |
|
RRM
|
409 |
478 |
5.09e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174882
|
| SMART Domains |
Protein: ENSMUSP00000133952
Gene: ENSMUSG00000015165
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
1 |
61 |
5.18e-1 |
SMART |
|
RRM
|
83 |
153 |
4.75e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic letahlity after E3.5. Mice homozygous for a conditional allele activated in thymocytes exhibit decreased T cells in the periphery associated with impaired thymocyte chemotaxis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,066,605 (GRCm39) |
L41Q |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
| Btbd7 |
C |
T |
12: 102,804,411 (GRCm39) |
E210K |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,356 (GRCm39) |
R231H |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,390,534 (GRCm39) |
E1099D |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
| Dzip3 |
C |
A |
16: 48,795,906 (GRCm39) |
C155F |
probably benign |
Het |
| Fam161b |
A |
T |
12: 84,408,464 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,068 (GRCm39) |
E327V |
probably damaging |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,439,839 (GRCm39) |
I176N |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,037,849 (GRCm39) |
T1505I |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
| Mettl3 |
A |
T |
14: 52,537,363 (GRCm39) |
I102N |
probably benign |
Het |
| Mgat4c |
A |
G |
10: 102,220,931 (GRCm39) |
H71R |
probably damaging |
Het |
| Misp |
G |
A |
10: 79,661,795 (GRCm39) |
V71I |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,283,590 (GRCm39) |
Q734R |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,418,853 (GRCm39) |
T3933I |
possibly damaging |
Het |
| Myh13 |
A |
G |
11: 67,218,014 (GRCm39) |
N29S |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,091,927 (GRCm39) |
V5046F |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Nrg1 |
A |
T |
8: 32,311,411 (GRCm39) |
V376E |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Odr4 |
A |
G |
1: 150,260,282 (GRCm39) |
I112T |
probably benign |
Het |
| Ppp1r21 |
T |
A |
17: 88,884,555 (GRCm39) |
|
probably null |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Rhoc |
T |
C |
3: 104,700,003 (GRCm39) |
|
probably null |
Het |
| Robo3 |
A |
G |
9: 37,333,521 (GRCm39) |
V708A |
probably damaging |
Het |
| Rtcb |
G |
T |
10: 85,778,458 (GRCm39) |
T395K |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 89,056,018 (GRCm39) |
T967A |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,421,410 (GRCm39) |
Q116K |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,583,355 (GRCm39) |
H1062R |
possibly damaging |
Het |
| Spatc1l |
C |
T |
10: 76,399,736 (GRCm39) |
T86I |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tsc1 |
A |
G |
2: 28,577,154 (GRCm39) |
D1151G |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,368,419 (GRCm39) |
D413G |
probably benign |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
| Wnt16 |
A |
G |
6: 22,298,021 (GRCm39) |
N296D |
probably benign |
Het |
|
| Other mutations in Hnrnpl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Hnrnpl
|
APN |
7 |
28,512,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00783:Hnrnpl
|
APN |
7 |
28,520,067 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00784:Hnrnpl
|
APN |
7 |
28,520,067 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03248:Hnrnpl
|
APN |
7 |
28,513,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0143:Hnrnpl
|
UTSW |
7 |
28,513,617 (GRCm39) |
splice site |
probably benign |
|
|
R1529:Hnrnpl
|
UTSW |
7 |
28,513,348 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1567:Hnrnpl
|
UTSW |
7 |
28,519,608 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4837:Hnrnpl
|
UTSW |
7 |
28,516,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5412:Hnrnpl
|
UTSW |
7 |
28,510,529 (GRCm39) |
unclassified |
probably benign |
|
|
R6617:Hnrnpl
|
UTSW |
7 |
28,518,009 (GRCm39) |
intron |
probably benign |
|
|
R7238:Hnrnpl
|
UTSW |
7 |
28,513,400 (GRCm39) |
missense |
|
|
|
R8283:Hnrnpl
|
UTSW |
7 |
28,513,697 (GRCm39) |
missense |
|
|
|
R8336:Hnrnpl
|
UTSW |
7 |
28,513,462 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTCCTATCCAATAGAAATGAACC -3'
(R):5'- TCCTTCCGGGAGTCTAAAGC -3'
Sequencing Primer
(F):5'- CTATCCAATAGAAATGAACCGTGAG -3'
(R):5'- GGAGTCTAAAGCCCCAGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation