Incidental Mutation 'R4226:Hnrnpll'
| ID |
500512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpll
|
| Ensembl Gene |
ENSMUSG00000024095 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein L-like |
| Synonyms |
Hnrpll, 2510028H02Rik, 2810036L13Rik |
| MMRRC Submission |
041046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R4226 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
80336916-80369697 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 80357234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061331]
[ENSMUST00000184297]
[ENSMUST00000184635]
|
| AlphaFold |
Q921F4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061331
|
| SMART Domains |
Protein: ENSMUSP00000058308
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 |
|
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 null
Transcript: ENSMUST00000184635
|
| SMART Domains |
Protein: ENSMUSP00000139372
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 |
|
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,690 (GRCm39) |
V279E |
possibly damaging |
Het |
| Ache |
T |
C |
5: 137,289,152 (GRCm39) |
V286A |
possibly damaging |
Het |
| Amotl1 |
T |
C |
9: 14,504,974 (GRCm39) |
N115S |
probably benign |
Het |
| Aoah |
A |
T |
13: 21,163,696 (GRCm39) |
Y333F |
possibly damaging |
Het |
| Ap4m1 |
A |
T |
5: 138,171,079 (GRCm39) |
R74* |
probably null |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,527,756 (GRCm39) |
I187L |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,036,664 (GRCm39) |
C360S |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,050,490 (GRCm39) |
N2249D |
probably damaging |
Het |
| Cyb5r4 |
T |
G |
9: 86,939,282 (GRCm39) |
I355S |
probably damaging |
Het |
| Dnm1l |
A |
T |
16: 16,132,251 (GRCm39) |
H653Q |
possibly damaging |
Het |
| Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
| Gm16503 |
C |
T |
4: 147,625,725 (GRCm39) |
S73L |
unknown |
Het |
| Igf1r |
T |
A |
7: 67,844,826 (GRCm39) |
Y866* |
probably null |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Mc1r |
A |
G |
8: 124,134,595 (GRCm39) |
N116S |
possibly damaging |
Het |
| Micu2 |
T |
C |
14: 58,169,742 (GRCm39) |
K203E |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,409,387 (GRCm39) |
W36* |
probably null |
Het |
| Nsd1 |
C |
T |
13: 55,408,214 (GRCm39) |
T1286I |
probably damaging |
Het |
| Or2a56 |
A |
G |
6: 42,932,689 (GRCm39) |
T86A |
probably benign |
Het |
| Or51l14 |
T |
C |
7: 103,100,784 (GRCm39) |
M80T |
probably benign |
Het |
| Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
| Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
| Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
| Ryr1 |
A |
C |
7: 28,761,576 (GRCm39) |
Y3190* |
probably null |
Het |
| Sec31b |
T |
A |
19: 44,520,149 (GRCm39) |
M212L |
probably benign |
Het |
| Smc4 |
A |
G |
3: 68,938,800 (GRCm39) |
E950G |
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,083,060 (GRCm39) |
S506T |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem236 |
G |
T |
2: 14,179,437 (GRCm39) |
E13* |
probably null |
Het |
| Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,703 (GRCm39) |
H205R |
possibly damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,422,240 (GRCm39) |
N2793D |
unknown |
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 |
|
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 |
|
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'- ACTAATGGCCAGTCAGAGTTATAC -3'
(R):5'- TGGTTCTCGGCCTTTCACAG -3'
Sequencing Primer
(F):5'- TGGCCAGTCAGAGTTATACAAGATCC -3'
(R):5'- TTCACAGGGTCGCATATCAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation