Incidental Mutation 'IGL02141:Hnrnpll'
| ID |
281541 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hnrnpll
|
| Ensembl Gene |
ENSMUSG00000024095 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein L-like |
| Synonyms |
2510028H02Rik, Hnrpll, 2810036L13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
IGL02141
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
80029487-80062334 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80050713 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 203
(T203I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061331]
[ENSMUST00000184297]
[ENSMUST00000184635]
|
| AlphaFold |
Q921F4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061331
AA Change: T203I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000058308
Gene: ENSMUSG00000024095
AA Change: T203I
| 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
AA Change: T203I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139075
Gene: ENSMUSG00000024095
AA Change: T203I
| 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 benign
Transcript: ENSMUST00000184635
AA Change: T203I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000139372
Gene: ENSMUSG00000024095
AA Change: T203I
| 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: ENSMUST00000184726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184889
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
C |
T |
5: 146,183,465 (GRCm38) |
A188T |
probably benign |
Het |
| 2310022B05Rik |
A |
T |
8: 124,637,906 (GRCm38) |
|
probably benign |
Het |
| 4931423N10Rik |
T |
C |
2: 23,230,200 (GRCm38) |
F203L |
probably damaging |
Het |
| Atf6b |
C |
A |
17: 34,653,277 (GRCm38) |
H539Q |
probably benign |
Het |
| Bmal2 |
T |
A |
6: 146,828,095 (GRCm38) |
|
probably benign |
Het |
| Bpifb5 |
G |
T |
2: 154,229,557 (GRCm38) |
|
probably null |
Het |
| Cep89 |
T |
A |
7: 35,420,924 (GRCm38) |
M377K |
probably damaging |
Het |
| Clpx |
G |
T |
9: 65,312,118 (GRCm38) |
|
probably null |
Het |
| Cops5 |
T |
C |
1: 10,035,117 (GRCm38) |
K47E |
probably damaging |
Het |
| Cryba2 |
T |
C |
1: 74,892,784 (GRCm38) |
N35S |
probably benign |
Het |
| Ddx27 |
A |
G |
2: 167,020,523 (GRCm38) |
K162E |
possibly damaging |
Het |
| Dhx36 |
A |
G |
3: 62,493,889 (GRCm38) |
S319P |
probably benign |
Het |
| Dram2 |
A |
G |
3: 106,571,696 (GRCm38) |
|
probably benign |
Het |
| Eci2 |
T |
A |
13: 34,978,673 (GRCm38) |
T300S |
probably benign |
Het |
| Egf |
C |
A |
3: 129,739,982 (GRCm38) |
G70* |
probably null |
Het |
| Eif5b |
T |
C |
1: 38,032,322 (GRCm38) |
V444A |
probably benign |
Het |
| Elf3 |
T |
C |
1: 135,257,707 (GRCm38) |
D23G |
possibly damaging |
Het |
| Epb41l4b |
A |
T |
4: 57,103,422 (GRCm38) |
|
probably null |
Het |
| Fam167a |
T |
A |
14: 63,452,259 (GRCm38) |
S2T |
probably benign |
Het |
| Flrt3 |
A |
G |
2: 140,660,688 (GRCm38) |
V340A |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,765,378 (GRCm38) |
E206G |
probably benign |
Het |
| Gp6 |
T |
C |
7: 4,394,104 (GRCm38) |
|
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,783,290 (GRCm38) |
M581L |
probably damaging |
Het |
| Hapln3 |
A |
G |
7: 79,118,145 (GRCm38) |
V167A |
probably damaging |
Het |
| Ighv3-6 |
A |
G |
12: 114,288,362 (GRCm38) |
I47T |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,738,121 (GRCm38) |
T926M |
probably damaging |
Het |
| Lonp1 |
A |
T |
17: 56,615,086 (GRCm38) |
S765T |
probably benign |
Het |
| Lpp |
C |
T |
16: 24,761,615 (GRCm38) |
S27F |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 37,068,074 (GRCm38) |
|
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,253,080 (GRCm38) |
T17K |
probably damaging |
Het |
| Mmut |
A |
G |
17: 40,938,817 (GRCm38) |
T228A |
possibly damaging |
Het |
| Mroh1 |
G |
T |
15: 76,446,599 (GRCm38) |
S1161I |
possibly damaging |
Het |
| Muc5b |
T |
G |
7: 141,853,367 (GRCm38) |
C1091G |
unknown |
Het |
| Nppb |
A |
T |
4: 147,986,006 (GRCm38) |
I11F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,828,525 (GRCm38) |
D650E |
probably benign |
Het |
| Ogdh |
A |
G |
11: 6,355,015 (GRCm38) |
K907E |
probably damaging |
Het |
| Or1b1 |
G |
A |
2: 37,105,425 (GRCm38) |
S75F |
probably benign |
Het |
| Or1j15 |
A |
G |
2: 36,568,808 (GRCm38) |
D70G |
probably damaging |
Het |
| Or7a35 |
A |
G |
10: 79,017,721 (GRCm38) |
Y133C |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 81,860,382 (GRCm38) |
Q4L |
possibly damaging |
Het |
| Pgc |
T |
A |
17: 47,726,931 (GRCm38) |
L9H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,246,397 (GRCm38) |
S887T |
probably benign |
Het |
| Plec |
T |
C |
15: 76,175,615 (GRCm38) |
D3239G |
probably damaging |
Het |
| Pole4 |
T |
C |
6: 82,648,034 (GRCm38) |
T116A |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,490,672 (GRCm38) |
N300D |
possibly damaging |
Het |
| Rara |
T |
A |
11: 98,968,081 (GRCm38) |
Y119N |
probably damaging |
Het |
| Rbck1 |
G |
T |
2: 152,318,374 (GRCm38) |
R462S |
possibly damaging |
Het |
| Setdb2 |
C |
T |
14: 59,402,315 (GRCm38) |
R709Q |
probably damaging |
Het |
| Slfn2 |
C |
A |
11: 83,069,844 (GRCm38) |
N216K |
probably benign |
Het |
| Suox |
A |
G |
10: 128,672,098 (GRCm38) |
|
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,391,194 (GRCm38) |
Y283F |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 45,318,179 (GRCm38) |
|
probably null |
Het |
| Ubtd2 |
A |
T |
11: 32,499,262 (GRCm38) |
K36N |
probably benign |
Het |
| Unkl |
T |
C |
17: 25,229,434 (GRCm38) |
L327P |
probably damaging |
Het |
| Vmn1r11 |
T |
A |
6: 57,137,379 (GRCm38) |
Y9* |
probably null |
Het |
| Vps13b |
T |
C |
15: 35,572,081 (GRCm38) |
V948A |
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,464,953 (GRCm38) |
H403R |
probably 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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation