Incidental Mutation 'IGL02093:Hnrnpll'
| ID |
279509 |
| 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 # |
IGL02093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
80336916-80369697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80351933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 337
(H337Q)
|
| 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: H337Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000058308
Gene: ENSMUSG00000024095
AA Change: H337Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000184578
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184635
AA Change: H337Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139372
Gene: ENSMUSG00000024095
AA Change: H337Q
| 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: 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
T |
A |
1: 173,160,396 (GRCm39) |
Y41F |
probably benign |
Het |
| Amigo1 |
T |
C |
3: 108,095,214 (GRCm39) |
Y238H |
probably benign |
Het |
| Ankrd17 |
A |
G |
5: 90,390,822 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Apobec4 |
A |
G |
1: 152,632,119 (GRCm39) |
H49R |
possibly damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,965,360 (GRCm39) |
K34R |
probably damaging |
Het |
| Arsg |
A |
G |
11: 109,416,272 (GRCm39) |
Y173C |
possibly damaging |
Het |
| Arv1 |
C |
A |
8: 125,457,617 (GRCm39) |
L56M |
probably damaging |
Het |
| B3glct |
A |
T |
5: 149,656,150 (GRCm39) |
R194S |
probably benign |
Het |
| Ccdc39 |
T |
A |
3: 33,886,717 (GRCm39) |
Y297F |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,936,854 (GRCm39) |
E1552G |
probably damaging |
Het |
| Dnajb9 |
T |
C |
12: 44,253,987 (GRCm39) |
H140R |
probably damaging |
Het |
| Dock5 |
T |
G |
14: 68,076,992 (GRCm39) |
|
probably benign |
Het |
| Egr2 |
G |
A |
10: 67,375,854 (GRCm39) |
G92D |
probably damaging |
Het |
| Evi2a |
G |
A |
11: 79,418,490 (GRCm39) |
S40L |
probably benign |
Het |
| Fshr |
A |
G |
17: 89,309,317 (GRCm39) |
|
probably null |
Het |
| Glce |
G |
A |
9: 61,977,821 (GRCm39) |
T21I |
probably damaging |
Het |
| Gucy2d |
C |
A |
7: 98,092,755 (GRCm39) |
S44* |
probably null |
Het |
| Heatr5a |
T |
C |
12: 51,962,858 (GRCm39) |
E1014G |
possibly damaging |
Het |
| Jhy |
G |
T |
9: 40,856,163 (GRCm39) |
|
probably null |
Het |
| Kat5 |
A |
T |
19: 5,653,903 (GRCm39) |
M427K |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,830,380 (GRCm39) |
P1876S |
probably damaging |
Het |
| Lamc3 |
C |
A |
2: 31,777,667 (GRCm39) |
H104Q |
probably damaging |
Het |
| Lcn5 |
T |
C |
2: 25,548,462 (GRCm39) |
Y84H |
probably damaging |
Het |
| Mageb18 |
T |
A |
X: 91,163,872 (GRCm39) |
K123N |
probably damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,056,498 (GRCm39) |
N324K |
probably damaging |
Het |
| Nagk |
T |
C |
6: 83,776,352 (GRCm39) |
F189S |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,610,963 (GRCm39) |
M2218K |
probably benign |
Het |
| Nuak2 |
C |
A |
1: 132,259,850 (GRCm39) |
P543T |
probably benign |
Het |
| Or2ag17 |
C |
T |
7: 106,390,030 (GRCm39) |
M59I |
probably benign |
Het |
| Or5bh3 |
C |
T |
X: 49,098,705 (GRCm39) |
M136I |
possibly damaging |
Het |
| Prl8a9 |
T |
C |
13: 27,743,436 (GRCm39) |
Y123C |
probably damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,682,867 (GRCm39) |
F220S |
probably damaging |
Het |
| Rexo4 |
T |
C |
2: 26,852,530 (GRCm39) |
D135G |
probably benign |
Het |
| Slc39a10 |
C |
T |
1: 46,874,369 (GRCm39) |
R311Q |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,923,016 (GRCm39) |
|
noncoding transcript |
Het |
| Tfrc |
A |
G |
16: 32,449,012 (GRCm39) |
E717G |
probably benign |
Het |
| Tg |
T |
A |
15: 66,564,223 (GRCm39) |
N1141K |
possibly damaging |
Het |
| Topors |
T |
C |
4: 40,261,467 (GRCm39) |
S606G |
probably damaging |
Het |
| Usp11 |
A |
G |
X: 20,585,591 (GRCm39) |
D827G |
probably benign |
Het |
| Vmn2r1 |
A |
T |
3: 64,012,130 (GRCm39) |
M664L |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,275 (GRCm39) |
M239K |
possibly damaging |
Het |
| Xiap |
T |
C |
X: 41,188,704 (GRCm39) |
|
probably benign |
Het |
| Zfp2 |
G |
A |
11: 50,791,831 (GRCm39) |
P71S |
probably benign |
Het |
| Zhx1 |
T |
A |
15: 57,916,264 (GRCm39) |
T661S |
probably benign |
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 |
|
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 |
|
|
IGL03213:Hnrnpll
|
APN |
17 |
80,341,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation