Incidental Mutation 'IGL03213:Hnrnpll'
ID |
413368 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hnrnpll
|
Ensembl Gene |
ENSMUSG00000024095 |
Gene Name |
heterogeneous nuclear ribonucleoprotein L-like |
Synonyms |
Hnrpll, 2510028H02Rik, 2810036L13Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.874)
|
Stock # |
IGL03213
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
80336916-80369697 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80341527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 504
(V504E)
|
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: V504E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000058308 Gene: ENSMUSG00000024095 AA Change: V504E
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 |
noncoding transcript
Transcript: ENSMUST00000157558
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183516
|
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 |
noncoding transcript
Transcript: ENSMUST00000184578
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000184635
AA Change: V504E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139372 Gene: ENSMUSG00000024095 AA Change: V504E
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
A |
T |
2: 22,831,971 (GRCm39) |
D447E |
probably damaging |
Het |
Aldh8a1 |
T |
C |
10: 21,260,616 (GRCm39) |
V175A |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,965,279 (GRCm39) |
D429G |
possibly damaging |
Het |
Arap2 |
T |
A |
5: 62,906,438 (GRCm39) |
T194S |
probably benign |
Het |
Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
Arl5b |
T |
A |
2: 15,074,676 (GRCm39) |
N52K |
probably damaging |
Het |
Atg13 |
G |
A |
2: 91,515,512 (GRCm39) |
H227Y |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,253,748 (GRCm39) |
T164A |
possibly damaging |
Het |
Cep192 |
T |
C |
18: 67,998,708 (GRCm39) |
V2074A |
probably damaging |
Het |
Ces2c |
T |
C |
8: 105,574,672 (GRCm39) |
I43T |
probably benign |
Het |
Chrm3 |
G |
A |
13: 9,928,220 (GRCm39) |
T272I |
probably benign |
Het |
Cln8 |
A |
G |
8: 14,944,845 (GRCm39) |
Y53C |
probably damaging |
Het |
Cwc27 |
T |
A |
13: 104,932,911 (GRCm39) |
|
probably benign |
Het |
Cyp3a13 |
A |
T |
5: 137,892,529 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
G |
T |
7: 105,404,279 (GRCm39) |
N2754K |
probably damaging |
Het |
Dclk1 |
A |
T |
3: 55,387,805 (GRCm39) |
K84* |
probably null |
Het |
Ednra |
T |
C |
8: 78,446,848 (GRCm39) |
T77A |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,410,510 (GRCm39) |
N553D |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gm10784 |
T |
A |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2e2 |
T |
C |
8: 34,242,525 (GRCm39) |
F76L |
probably damaging |
Het |
Ifitm2 |
A |
G |
7: 140,535,677 (GRCm39) |
V51A |
possibly damaging |
Het |
Il16 |
C |
T |
7: 83,295,708 (GRCm39) |
E456K |
probably damaging |
Het |
Lmod2 |
A |
T |
6: 24,603,615 (GRCm39) |
I197F |
possibly damaging |
Het |
Lrrc14 |
T |
C |
15: 76,597,983 (GRCm39) |
S238P |
possibly damaging |
Het |
Map3k1 |
A |
G |
13: 111,885,426 (GRCm39) |
|
probably benign |
Het |
Phf11d |
C |
A |
14: 59,586,797 (GRCm39) |
R210S |
probably benign |
Het |
Pigu |
T |
C |
2: 155,177,291 (GRCm39) |
N103S |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,701,587 (GRCm39) |
V289A |
probably benign |
Het |
Rp1l1 |
T |
A |
14: 64,265,864 (GRCm39) |
S483R |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,739,273 (GRCm39) |
|
probably benign |
Het |
Sema3c |
T |
G |
5: 17,899,637 (GRCm39) |
|
probably benign |
Het |
Septin4 |
G |
T |
11: 87,458,184 (GRCm39) |
|
probably null |
Het |
Sfmbt2 |
A |
G |
2: 10,409,385 (GRCm39) |
Y110C |
probably damaging |
Het |
Slc12a3 |
T |
C |
8: 95,061,933 (GRCm39) |
V328A |
possibly damaging |
Het |
Smarca2 |
G |
A |
19: 26,601,375 (GRCm39) |
G31D |
probably damaging |
Het |
Spmip1 |
G |
A |
6: 29,471,792 (GRCm39) |
M89I |
probably damaging |
Het |
Tenm2 |
T |
G |
11: 35,914,157 (GRCm39) |
E2460A |
probably benign |
Het |
Trim58 |
T |
A |
11: 58,541,993 (GRCm39) |
W318R |
probably benign |
Het |
Ube3a |
C |
T |
7: 58,935,870 (GRCm39) |
Q585* |
probably null |
Het |
Vmn2r17 |
T |
C |
5: 109,582,256 (GRCm39) |
|
probably null |
Het |
Zfp647 |
A |
G |
15: 76,796,177 (GRCm39) |
V161A |
possibly damaging |
Het |
|
Other mutations in Hnrnpll |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
thunder
|
APN |
17 |
80,361,000 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01989:Hnrnpll
|
APN |
17 |
80,346,169 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02093:Hnrnpll
|
APN |
17 |
80,351,933 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02141:Hnrnpll
|
APN |
17 |
80,358,142 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02749:Hnrnpll
|
APN |
17 |
80,369,420 (GRCm39) |
start codon destroyed |
probably null |
|
Grell
|
UTSW |
17 |
80,341,534 (GRCm39) |
missense |
probably damaging |
1.00 |
Lindsley
|
UTSW |
17 |
80,357,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R0477:Hnrnpll
|
UTSW |
17 |
80,369,261 (GRCm39) |
missense |
unknown |
|
R1599:Hnrnpll
|
UTSW |
17 |
80,361,054 (GRCm39) |
missense |
unknown |
|
R1700:Hnrnpll
|
UTSW |
17 |
80,341,534 (GRCm39) |
missense |
probably benign |
0.18 |
R1838:Hnrnpll
|
UTSW |
17 |
80,346,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R1907:Hnrnpll
|
UTSW |
17 |
80,342,758 (GRCm39) |
critical splice donor site |
probably null |
|
R1978:Hnrnpll
|
UTSW |
17 |
80,351,947 (GRCm39) |
missense |
probably benign |
0.01 |
R2079:Hnrnpll
|
UTSW |
17 |
80,342,806 (GRCm39) |
missense |
probably benign |
0.01 |
R4061:Hnrnpll
|
UTSW |
17 |
80,340,201 (GRCm39) |
missense |
probably benign |
0.01 |
R4062:Hnrnpll
|
UTSW |
17 |
80,340,201 (GRCm39) |
missense |
probably benign |
0.01 |
R4064:Hnrnpll
|
UTSW |
17 |
80,340,201 (GRCm39) |
missense |
probably benign |
0.01 |
R4226:Hnrnpll
|
UTSW |
17 |
80,357,234 (GRCm39) |
critical splice donor site |
probably null |
|
R4625:Hnrnpll
|
UTSW |
17 |
80,358,291 (GRCm39) |
nonsense |
probably null |
|
R5175:Hnrnpll
|
UTSW |
17 |
80,341,499 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5232:Hnrnpll
|
UTSW |
17 |
80,346,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R5620:Hnrnpll
|
UTSW |
17 |
80,346,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R5978:Hnrnpll
|
UTSW |
17 |
80,341,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R6183:Hnrnpll
|
UTSW |
17 |
80,357,305 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6374:Hnrnpll
|
UTSW |
17 |
80,357,303 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7120:Hnrnpll
|
UTSW |
17 |
80,341,486 (GRCm39) |
missense |
probably benign |
0.01 |
R7429:Hnrnpll
|
UTSW |
17 |
80,357,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R7430:Hnrnpll
|
UTSW |
17 |
80,357,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R7576:Hnrnpll
|
UTSW |
17 |
80,351,943 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8001:Hnrnpll
|
UTSW |
17 |
80,346,152 (GRCm39) |
nonsense |
probably null |
|
R8010:Hnrnpll
|
UTSW |
17 |
80,369,385 (GRCm39) |
missense |
unknown |
|
R8060:Hnrnpll
|
UTSW |
17 |
80,341,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R8068:Hnrnpll
|
UTSW |
17 |
80,358,281 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8381:Hnrnpll
|
UTSW |
17 |
80,337,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R9378:Hnrnpll
|
UTSW |
17 |
80,369,291 (GRCm39) |
missense |
unknown |
|
R9488:Hnrnpll
|
UTSW |
17 |
80,369,385 (GRCm39) |
missense |
unknown |
|
Z1177:Hnrnpll
|
UTSW |
17 |
80,356,039 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |