Incidental Mutation 'R8068:Hnrnpll'
| ID |
620134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpll
|
| Ensembl Gene |
ENSMUSG00000024095 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein L-like |
| Synonyms |
2510028H02Rik, Hnrpll, 2810036L13Rik |
| MMRRC Submission |
067503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R8068 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
80029487-80062334 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80050852 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 157
(M157V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061331]
[ENSMUST00000184297]
[ENSMUST00000184635]
|
| AlphaFold |
Q921F4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061331
AA Change: M157V
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058308
Gene: ENSMUSG00000024095
AA Change: M157V
| 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 |
possibly damaging
Transcript: ENSMUST00000184297
AA Change: M157V
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139075
Gene: ENSMUSG00000024095
AA Change: M157V
| 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 |
possibly damaging
Transcript: ENSMUST00000184635
AA Change: M157V
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139372
Gene: ENSMUSG00000024095
AA Change: M157V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
A |
8: 40,825,938 (GRCm38) |
D455E |
not run |
Het |
| Aldoc |
T |
C |
11: 78,324,727 (GRCm38) |
F79S |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 116,956,650 (GRCm38) |
S350G |
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,413,750 (GRCm38) |
F206S |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,075,728 (GRCm38) |
I698L |
probably benign |
Het |
| Cd47 |
T |
A |
16: 49,895,416 (GRCm38) |
S182T |
|
Het |
| Ces2e |
G |
T |
8: 104,932,997 (GRCm38) |
|
probably null |
Het |
| Cit |
T |
C |
5: 115,982,235 (GRCm38) |
S1370P |
probably benign |
Het |
| Cit |
C |
A |
5: 115,952,466 (GRCm38) |
H906Q |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,300,438 (GRCm38) |
F1739L |
probably benign |
Het |
| Dlx4 |
T |
C |
11: 95,145,330 (GRCm38) |
Y51C |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,883,190 (GRCm38) |
Y796* |
probably null |
Het |
| Elf1 |
T |
A |
14: 79,536,390 (GRCm38) |
F14I |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,532,978 (GRCm38) |
Q73R |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,643,540 (GRCm38) |
R210G |
probably benign |
Het |
| Gls2 |
C |
G |
10: 128,195,114 (GRCm38) |
R81G |
unknown |
Het |
| Itgb3 |
T |
A |
11: 104,665,511 (GRCm38) |
M726K |
probably benign |
Het |
| Kcna10 |
T |
G |
3: 107,194,410 (GRCm38) |
M119R |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,241,942 (GRCm38) |
T155A |
probably benign |
Het |
| Kctd9 |
T |
A |
14: 67,724,662 (GRCm38) |
D51E |
unknown |
Het |
| Lgr6 |
T |
C |
1: 135,063,664 (GRCm38) |
I129V |
probably benign |
Het |
| Lrrfip1 |
A |
T |
1: 91,128,102 (GRCm38) |
D598V |
probably damaging |
Het |
| Ltbp4 |
G |
T |
7: 27,324,168 (GRCm38) |
Q850K |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 118,146,804 (GRCm38) |
R115G |
possibly damaging |
Het |
| Mns1 |
A |
C |
9: 72,448,527 (GRCm38) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,211,235 (GRCm38) |
R14Q |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,744,685 (GRCm38) |
S25T |
|
Het |
| Ncapd3 |
T |
C |
9: 27,063,361 (GRCm38) |
S710P |
possibly damaging |
Het |
| Nrip1 |
T |
A |
16: 76,292,953 (GRCm38) |
H572L |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,745,408 (GRCm38) |
R239C |
probably damaging |
Het |
| Olfr1020 |
A |
G |
2: 85,849,806 (GRCm38) |
E118G |
probably damaging |
Het |
| Olfr1152 |
A |
G |
2: 87,868,651 (GRCm38) |
Y220C |
probably benign |
Het |
| Olfr656 |
T |
A |
7: 104,618,253 (GRCm38) |
C191* |
probably null |
Het |
| Opa3 |
A |
G |
7: 19,244,985 (GRCm38) |
E125G |
probably damaging |
Het |
| P3h1 |
A |
G |
4: 119,236,862 (GRCm38) |
Y238C |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,935,985 (GRCm38) |
D652G |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,005,565 (GRCm38) |
N82K |
probably damaging |
Het |
| Pde4b |
T |
C |
4: 102,596,015 (GRCm38) |
I293T |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,709,061 (GRCm38) |
|
probably benign |
Het |
| Qk |
T |
C |
17: 10,318,803 (GRCm38) |
D24G |
possibly damaging |
Het |
| Rbpjl |
A |
G |
2: 164,408,518 (GRCm38) |
K197E |
possibly damaging |
Het |
| Rnf111 |
A |
T |
9: 70,457,941 (GRCm38) |
S415T |
probably benign |
Het |
| Scyl1 |
A |
G |
19: 5,760,825 (GRCm38) |
V488A |
probably damaging |
Het |
| Slc1a6 |
G |
C |
10: 78,812,872 (GRCm38) |
V476L |
possibly damaging |
Het |
| Slc22a17 |
A |
T |
14: 54,908,908 (GRCm38) |
F84I |
probably benign |
Het |
| Slc22a4 |
A |
C |
11: 53,997,443 (GRCm38) |
I253S |
possibly damaging |
Het |
| Speer2 |
T |
C |
16: 69,860,524 (GRCm38) |
H77R |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,422,250 (GRCm38) |
S2114P |
probably damaging |
Het |
| Synpo2 |
T |
A |
3: 123,117,392 (GRCm38) |
R201S |
possibly damaging |
Het |
| Ttpa |
C |
A |
4: 20,028,419 (GRCm38) |
H225Q |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,933,279 (GRCm38) |
H236Q |
possibly damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,716,086 (GRCm38) |
V271D |
probably benign |
Het |
| Wdr66 |
A |
G |
5: 123,256,166 (GRCm38) |
S373G |
not run |
Het |
| Zfp53 |
A |
T |
17: 21,509,012 (GRCm38) |
T436S |
probably benign |
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 |
|
|
R8060:Hnrnpll
|
UTSW |
17 |
80,034,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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'- CCCTGATGGATCGTCGGTAT -3'
(R):5'- AGTTCCTGCTGTTTAACTATGGGT -3'
Sequencing Primer
(F):5'- ATTTCCTGGCCGAGTGATTC -3'
(R):5'- CCTGCTTTACTTGACGGA -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation