Incidental Mutation 'R4061:Hnrnpll'
| ID |
315883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpll
|
| Ensembl Gene |
ENSMUSG00000024095 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein L-like |
| Synonyms |
Hnrpll, 2510028H02Rik, 2810036L13Rik |
| MMRRC Submission |
040852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R4061 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
80336916-80369697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80340201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 526
(H526R)
|
| 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: H526R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000058308
Gene: ENSMUSG00000024095
AA Change: H526R
| 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 benign
Transcript: ENSMUST00000184635
AA Change: H526R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000139372
Gene: ENSMUSG00000024095
AA Change: H526R
| 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 |
0.0584 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
94% (51/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
| Adam25 |
A |
G |
8: 41,206,819 (GRCm39) |
I28M |
possibly damaging |
Het |
| Anks1b |
A |
G |
10: 90,143,484 (GRCm39) |
S464G |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,729,488 (GRCm39) |
M550K |
probably damaging |
Het |
| Cab39l |
A |
G |
14: 59,737,056 (GRCm39) |
K59E |
possibly damaging |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 15,995,158 (GRCm39) |
S2626P |
probably benign |
Het |
| Ctss |
C |
T |
3: 95,450,345 (GRCm39) |
R99W |
probably benign |
Het |
| Deptor |
A |
T |
15: 55,072,177 (GRCm39) |
M219L |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,869,264 (GRCm39) |
V1052A |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,202,891 (GRCm39) |
S504N |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
| Folh1 |
T |
A |
7: 86,406,170 (GRCm39) |
Y301F |
possibly damaging |
Het |
| Gm14443 |
G |
A |
2: 175,011,402 (GRCm39) |
T348I |
probably benign |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Iars2 |
A |
T |
1: 185,035,583 (GRCm39) |
H552Q |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,514,096 (GRCm39) |
V101I |
probably benign |
Het |
| Impdh2 |
A |
G |
9: 108,440,003 (GRCm39) |
R182G |
possibly damaging |
Het |
| Krt12 |
A |
T |
11: 99,306,841 (GRCm39) |
M487K |
unknown |
Het |
| Lmln |
C |
A |
16: 32,886,761 (GRCm39) |
Y89* |
probably null |
Het |
| Lrrc38 |
T |
A |
4: 143,077,076 (GRCm39) |
L113Q |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,364,867 (GRCm39) |
D1947G |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,221,715 (GRCm39) |
I177F |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,525,583 (GRCm39) |
Y904C |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,899,358 (GRCm39) |
P1000S |
probably damaging |
Het |
| Or52n4 |
T |
A |
7: 104,293,680 (GRCm39) |
K298* |
probably null |
Het |
| Or5t7 |
T |
A |
2: 86,507,162 (GRCm39) |
I172F |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,580 (GRCm39) |
E960G |
unknown |
Het |
| Plagl1 |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
10: 13,004,515 (GRCm39) |
|
probably benign |
Het |
| Prl7a1 |
T |
C |
13: 27,819,832 (GRCm39) |
I141V |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,512,011 (GRCm39) |
H45L |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,526,635 (GRCm39) |
M960K |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,846,937 (GRCm39) |
S67R |
probably benign |
Het |
| Spata18 |
A |
G |
5: 73,828,509 (GRCm39) |
K243E |
probably damaging |
Het |
| Tcp1 |
A |
G |
17: 13,139,750 (GRCm39) |
Q265R |
probably benign |
Het |
| Tec |
C |
T |
5: 72,980,752 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
A |
G |
13: 92,912,605 (GRCm39) |
|
probably null |
Het |
| Tln1 |
T |
A |
4: 43,549,177 (GRCm39) |
Q635L |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
T |
C |
1: 169,986,415 (GRCm39) |
E189G |
possibly damaging |
Het |
| Usp21 |
G |
A |
1: 171,112,974 (GRCm39) |
|
probably benign |
Het |
| Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,832 (GRCm39) |
C95S |
possibly damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,898 (GRCm39) |
E774V |
probably 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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGGTAGTGATTGAGCGC -3'
(R):5'- CATAGCTTCAAACCAATTTCAGGG -3'
Sequencing Primer
(F):5'- GAGCTTCCACGGCATCAGTTTTG -3'
(R):5'- TCCTCAGAACTTGATGTTAAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation