Incidental Mutation 'R8060:Hnrnpll'
| ID |
619675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpll
|
| Ensembl Gene |
ENSMUSG00000024095 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein L-like |
| Synonyms |
2510028H02Rik, Hnrpll, 2810036L13Rik |
| MMRRC Submission |
067496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R8060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
80029487-80062334 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80034105 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 502
(S502P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061331]
[ENSMUST00000184297]
[ENSMUST00000184635]
|
| AlphaFold |
Q921F4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061331
AA Change: S502P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058308
Gene: ENSMUSG00000024095
AA Change: S502P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
104 |
N/A |
INTRINSIC |
|
RRM
|
126 |
195 |
2.99e-4 |
SMART |
|
RRM
|
216 |
289 |
1.26e-2 |
SMART |
|
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
|
RRM
|
385 |
454 |
1.36e-7 |
SMART |
|
Blast:RRM_2
|
504 |
582 |
3e-32 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184297
|
| SMART Domains |
Protein: ENSMUSP00000139075
Gene: ENSMUSG00000024095
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
104 |
N/A |
INTRINSIC |
|
RRM
|
126 |
195 |
2.99e-4 |
SMART |
|
RRM
|
216 |
289 |
1.26e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184635
AA Change: S502P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139372
Gene: ENSMUSG00000024095
AA Change: S502P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
104 |
N/A |
INTRINSIC |
|
RRM
|
126 |
195 |
2.99e-4 |
SMART |
|
RRM
|
216 |
289 |
1.26e-2 |
SMART |
|
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
|
RRM
|
385 |
454 |
1.36e-7 |
SMART |
|
Blast:RRM_2
|
504 |
582 |
3e-32 |
BLAST |
|
| Meta Mutation Damage Score |
0.3872 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for a point mutation in a RNA recognition motif of the gene product have defects in the generation of alternative transcripts normally found in memory T cells. Total CD4+ T cell counts are lower, with a reduction of na�ve CD44lo T cells occurring as mice age. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Gene trapped(5) Chemically induced(1) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamdc |
A |
T |
7: 97,575,648 (GRCm38) |
Y2* |
probably null |
Het |
| Ano5 |
T |
A |
7: 51,587,783 (GRCm38) |
V785E |
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 14,954,446 (GRCm38) |
R399S |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 51,984,995 (GRCm38) |
|
probably benign |
Het |
| Armc3 |
G |
T |
2: 19,288,909 (GRCm38) |
V504L |
probably benign |
Het |
| Asb10 |
T |
A |
5: 24,533,835 (GRCm38) |
Y408F |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,602,766 (GRCm38) |
N899I |
probably damaging |
Het |
| Ccdc112 |
T |
C |
18: 46,293,462 (GRCm38) |
I131M |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,394,560 (GRCm38) |
S442T |
unknown |
Het |
| Cit |
G |
A |
5: 115,908,727 (GRCm38) |
V400M |
probably benign |
Het |
| Copg1 |
T |
C |
6: 87,909,721 (GRCm38) |
F772L |
probably damaging |
Het |
| Cts3 |
T |
A |
13: 61,566,766 (GRCm38) |
I242F |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,990,629 (GRCm38) |
|
probably benign |
Het |
| Dock1 |
T |
A |
7: 135,168,403 (GRCm38) |
D1797E |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,032,274 (GRCm38) |
G881R |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,438,610 (GRCm38) |
K441R |
possibly damaging |
Het |
| H2-DMa |
A |
G |
17: 34,137,285 (GRCm38) |
E87G |
probably benign |
Het |
| Has2 |
T |
A |
15: 56,669,945 (GRCm38) |
M225L |
probably benign |
Het |
| Hnrnpul1 |
G |
T |
7: 25,748,343 (GRCm38) |
F185L |
possibly damaging |
Het |
| Hoxd11 |
G |
A |
2: 74,682,376 (GRCm38) |
|
probably benign |
Het |
| Larp1b |
T |
C |
3: 40,985,402 (GRCm38) |
V330A |
|
Het |
| Mast4 |
T |
C |
13: 102,737,676 (GRCm38) |
E1728G |
possibly damaging |
Het |
| Minpp1 |
T |
A |
19: 32,493,903 (GRCm38) |
F284I |
probably damaging |
Het |
| Moxd1 |
A |
G |
10: 24,301,612 (GRCm38) |
S609G |
unknown |
Het |
| Myh1 |
A |
C |
11: 67,215,251 (GRCm38) |
M1231L |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,763,769 (GRCm38) |
E615G |
probably damaging |
Het |
| Or1e27-ps1 |
T |
C |
11: 73,664,939 (GRCm38) |
I110T |
probably benign |
Het |
| Or4c10 |
A |
T |
2: 89,930,349 (GRCm38) |
N180I |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,391,504 (GRCm38) |
T86A |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,967,405 (GRCm38) |
T3A |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,896,973 (GRCm38) |
Y258F |
probably damaging |
Het |
| Or6c205 |
A |
C |
10: 129,251,046 (GRCm38) |
T171P |
possibly damaging |
Het |
| Pln |
A |
T |
10: 53,343,897 (GRCm38) |
I12F |
unknown |
Het |
| Pomt2 |
G |
A |
12: 87,129,006 (GRCm38) |
A388V |
probably damaging |
Het |
| Rbl2 |
T |
A |
8: 91,096,869 (GRCm38) |
|
probably null |
Het |
| Rnpep |
T |
C |
1: 135,266,920 (GRCm38) |
Y459C |
probably damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,948,401 (GRCm38) |
T498A |
probably damaging |
Het |
| Slc2a4 |
A |
T |
11: 69,945,010 (GRCm38) |
L338M |
possibly damaging |
Het |
| Smco2 |
C |
A |
6: 146,866,785 (GRCm38) |
Q221K |
probably benign |
Het |
| Snx20 |
G |
T |
8: 88,627,645 (GRCm38) |
C152* |
probably null |
Het |
| Spata16 |
T |
C |
3: 26,840,720 (GRCm38) |
L306P |
probably damaging |
Het |
| Spata20 |
A |
T |
11: 94,482,239 (GRCm38) |
F520L |
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,101,616 (GRCm38) |
D2290E |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,254,109 (GRCm38) |
T250I |
probably benign |
Het |
| Trim34a |
G |
T |
7: 104,260,976 (GRCm38) |
W328C |
probably damaging |
Het |
| Trim42 |
T |
G |
9: 97,363,479 (GRCm38) |
M423L |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 45,305,451 (GRCm38) |
K1055E |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,674,531 (GRCm38) |
K238* |
probably null |
Het |
| Tshr |
A |
C |
12: 91,538,360 (GRCm38) |
I691L |
probably benign |
Het |
| Vmn2r-ps117 |
A |
T |
17: 18,837,862 (GRCm38) |
H560L |
possibly damaging |
Het |
|
| Other mutations in Hnrnpll |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
thunder
|
APN |
17 |
80,053,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01989:Hnrnpll
|
APN |
17 |
80,038,740 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL02093:Hnrnpll
|
APN |
17 |
80,044,504 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02141:Hnrnpll
|
APN |
17 |
80,050,713 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02749:Hnrnpll
|
APN |
17 |
80,061,991 (GRCm38) |
start codon destroyed |
probably null |
|
|
IGL03213:Hnrnpll
|
APN |
17 |
80,034,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Grell
|
UTSW |
17 |
80,034,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Lindsley
|
UTSW |
17 |
80,049,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0477:Hnrnpll
|
UTSW |
17 |
80,061,832 (GRCm38) |
missense |
unknown |
|
|
R1599:Hnrnpll
|
UTSW |
17 |
80,053,625 (GRCm38) |
missense |
unknown |
|
|
R1700:Hnrnpll
|
UTSW |
17 |
80,034,105 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1838:Hnrnpll
|
UTSW |
17 |
80,038,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1907:Hnrnpll
|
UTSW |
17 |
80,035,329 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1978:Hnrnpll
|
UTSW |
17 |
80,044,518 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2079:Hnrnpll
|
UTSW |
17 |
80,035,377 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4061:Hnrnpll
|
UTSW |
17 |
80,032,772 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4062:Hnrnpll
|
UTSW |
17 |
80,032,772 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4064:Hnrnpll
|
UTSW |
17 |
80,032,772 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4226:Hnrnpll
|
UTSW |
17 |
80,049,805 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4625:Hnrnpll
|
UTSW |
17 |
80,050,862 (GRCm38) |
nonsense |
probably null |
|
|
R5175:Hnrnpll
|
UTSW |
17 |
80,034,070 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5232:Hnrnpll
|
UTSW |
17 |
80,038,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5620:Hnrnpll
|
UTSW |
17 |
80,038,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5978:Hnrnpll
|
UTSW |
17 |
80,034,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6183:Hnrnpll
|
UTSW |
17 |
80,049,876 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R6374:Hnrnpll
|
UTSW |
17 |
80,049,874 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7120:Hnrnpll
|
UTSW |
17 |
80,034,057 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7429:Hnrnpll
|
UTSW |
17 |
80,049,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7430:Hnrnpll
|
UTSW |
17 |
80,049,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7576:Hnrnpll
|
UTSW |
17 |
80,044,514 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8001:Hnrnpll
|
UTSW |
17 |
80,038,723 (GRCm38) |
nonsense |
probably null |
|
|
R8010:Hnrnpll
|
UTSW |
17 |
80,061,956 (GRCm38) |
missense |
unknown |
|
|
R8068:Hnrnpll
|
UTSW |
17 |
80,050,852 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8381:Hnrnpll
|
UTSW |
17 |
80,030,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9378:Hnrnpll
|
UTSW |
17 |
80,061,862 (GRCm38) |
missense |
unknown |
|
|
R9488:Hnrnpll
|
UTSW |
17 |
80,061,956 (GRCm38) |
missense |
unknown |
|
|
Z1177:Hnrnpll
|
UTSW |
17 |
80,048,610 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGGCTCTACGTACACAAACC -3'
(R):5'- GGATAAATGGTTGCCTGCACC -3'
Sequencing Primer
(F):5'- TAGGCTCTACGTACACAAACCCAAAC -3'
(R):5'- GGTTGCCTGCACCAAATTTAAATAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation