Incidental Mutation 'R2194:Hnrnpul1'
ID |
238291 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hnrnpul1
|
Ensembl Gene |
ENSMUSG00000040725 |
Gene Name |
heterogeneous nuclear ribonucleoprotein U-like 1 |
Synonyms |
E130317O14Rik, Hnrpul1, Hnrnpul, E1B-AP5, E1BAP5 |
MMRRC Submission |
040196-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.621)
|
Stock # |
R2194 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
25420590-25454182 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 25425347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043765]
[ENSMUST00000206832]
|
AlphaFold |
Q8VDM6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043765
|
SMART Domains |
Protein: ENSMUSP00000037268 Gene: ENSMUSG00000040725
Domain | Start | End | E-Value | Type |
SAP
|
3 |
37 |
2.86e-10 |
SMART |
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
low complexity region
|
78 |
91 |
N/A |
INTRINSIC |
low complexity region
|
201 |
209 |
N/A |
INTRINSIC |
SPRY
|
255 |
388 |
8.49e-41 |
SMART |
Pfam:AAA_33
|
424 |
569 |
1.4e-29 |
PFAM |
low complexity region
|
613 |
626 |
N/A |
INTRINSIC |
low complexity region
|
631 |
693 |
N/A |
INTRINSIC |
low complexity region
|
695 |
718 |
N/A |
INTRINSIC |
low complexity region
|
745 |
765 |
N/A |
INTRINSIC |
low complexity region
|
768 |
859 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206832
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus early-1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by early-1B-55kDa in adenovirus-infected cells. [provided by RefSeq, Mar 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdh2 |
T |
C |
18: 16,773,505 (GRCm39) |
T275A |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Fkbp5 |
T |
C |
17: 28,657,001 (GRCm39) |
D72G |
probably benign |
Het |
Gm8104 |
T |
C |
14: 42,959,017 (GRCm39) |
M69T |
possibly damaging |
Het |
Greb1 |
T |
C |
12: 16,740,909 (GRCm39) |
E1391G |
probably benign |
Het |
Hif1a |
A |
G |
12: 73,977,521 (GRCm39) |
N183S |
probably damaging |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Ighmbp2 |
T |
C |
19: 3,315,116 (GRCm39) |
D768G |
probably benign |
Het |
Kitl |
T |
G |
10: 99,851,899 (GRCm39) |
|
probably null |
Het |
Mfsd4b4 |
T |
A |
10: 39,768,919 (GRCm39) |
N104I |
probably damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or2t49 |
T |
C |
11: 58,392,468 (GRCm39) |
K305E |
probably damaging |
Het |
Pcdhb4 |
T |
C |
18: 37,441,788 (GRCm39) |
V366A |
probably damaging |
Het |
Polb |
C |
T |
8: 23,137,483 (GRCm39) |
R89H |
probably benign |
Het |
Rfc4 |
TTTGTTGTTGTTG |
TTTGTTGTTG |
16: 22,932,902 (GRCm39) |
|
probably benign |
Het |
Rnf40 |
C |
A |
7: 127,196,407 (GRCm39) |
A785D |
probably damaging |
Het |
St7 |
A |
G |
6: 17,942,718 (GRCm39) |
E494G |
probably damaging |
Het |
Tnks1bp1 |
A |
G |
2: 84,893,409 (GRCm39) |
E1112G |
probably benign |
Het |
Zfp607a |
A |
G |
7: 27,578,805 (GRCm39) |
E625G |
possibly damaging |
Het |
|
Other mutations in Hnrnpul1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00095:Hnrnpul1
|
APN |
7 |
25,425,579 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL01287:Hnrnpul1
|
APN |
7 |
25,426,323 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01409:Hnrnpul1
|
APN |
7 |
25,424,077 (GRCm39) |
missense |
unknown |
|
IGL02026:Hnrnpul1
|
APN |
7 |
25,444,587 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02073:Hnrnpul1
|
APN |
7 |
25,421,766 (GRCm39) |
unclassified |
probably benign |
|
IGL02474:Hnrnpul1
|
APN |
7 |
25,426,182 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02839:Hnrnpul1
|
APN |
7 |
25,432,667 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02894:Hnrnpul1
|
APN |
7 |
25,450,329 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL03382:Hnrnpul1
|
APN |
7 |
25,450,409 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R0011:Hnrnpul1
|
UTSW |
7 |
25,442,340 (GRCm39) |
splice site |
probably benign |
|
R0525:Hnrnpul1
|
UTSW |
7 |
25,440,308 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0587:Hnrnpul1
|
UTSW |
7 |
25,444,657 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1121:Hnrnpul1
|
UTSW |
7 |
25,440,332 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1313:Hnrnpul1
|
UTSW |
7 |
25,422,341 (GRCm39) |
unclassified |
probably benign |
|
R1313:Hnrnpul1
|
UTSW |
7 |
25,422,341 (GRCm39) |
unclassified |
probably benign |
|
R1880:Hnrnpul1
|
UTSW |
7 |
25,432,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1892:Hnrnpul1
|
UTSW |
7 |
25,426,191 (GRCm39) |
missense |
probably benign |
0.11 |
R2113:Hnrnpul1
|
UTSW |
7 |
25,432,694 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2269:Hnrnpul1
|
UTSW |
7 |
25,450,299 (GRCm39) |
missense |
probably damaging |
0.98 |
R2679:Hnrnpul1
|
UTSW |
7 |
25,426,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R3079:Hnrnpul1
|
UTSW |
7 |
25,432,540 (GRCm39) |
nonsense |
probably null |
|
R3917:Hnrnpul1
|
UTSW |
7 |
25,426,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R4077:Hnrnpul1
|
UTSW |
7 |
25,426,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R4079:Hnrnpul1
|
UTSW |
7 |
25,426,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R4181:Hnrnpul1
|
UTSW |
7 |
25,426,237 (GRCm39) |
missense |
probably damaging |
0.98 |
R4449:Hnrnpul1
|
UTSW |
7 |
25,421,709 (GRCm39) |
unclassified |
probably benign |
|
R4707:Hnrnpul1
|
UTSW |
7 |
25,426,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R4764:Hnrnpul1
|
UTSW |
7 |
25,442,436 (GRCm39) |
missense |
probably benign |
0.00 |
R5040:Hnrnpul1
|
UTSW |
7 |
25,442,414 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5131:Hnrnpul1
|
UTSW |
7 |
25,426,219 (GRCm39) |
missense |
probably benign |
0.08 |
R5224:Hnrnpul1
|
UTSW |
7 |
25,444,600 (GRCm39) |
missense |
probably damaging |
0.98 |
R5599:Hnrnpul1
|
UTSW |
7 |
25,454,097 (GRCm39) |
start gained |
probably benign |
|
R5975:Hnrnpul1
|
UTSW |
7 |
25,453,784 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7032:Hnrnpul1
|
UTSW |
7 |
25,450,319 (GRCm39) |
missense |
probably benign |
0.11 |
R7195:Hnrnpul1
|
UTSW |
7 |
25,424,203 (GRCm39) |
missense |
unknown |
|
R7231:Hnrnpul1
|
UTSW |
7 |
25,447,842 (GRCm39) |
nonsense |
probably null |
|
R7667:Hnrnpul1
|
UTSW |
7 |
25,453,846 (GRCm39) |
missense |
probably damaging |
0.99 |
R8017:Hnrnpul1
|
UTSW |
7 |
25,447,889 (GRCm39) |
missense |
probably benign |
0.03 |
R8060:Hnrnpul1
|
UTSW |
7 |
25,447,768 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8319:Hnrnpul1
|
UTSW |
7 |
25,453,902 (GRCm39) |
missense |
probably benign |
|
R8356:Hnrnpul1
|
UTSW |
7 |
25,422,247 (GRCm39) |
unclassified |
probably benign |
|
Z1176:Hnrnpul1
|
UTSW |
7 |
25,424,123 (GRCm39) |
missense |
unknown |
|
Z1176:Hnrnpul1
|
UTSW |
7 |
25,424,089 (GRCm39) |
missense |
probably benign |
0.23 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCAGAGAGTGTACGGTCAGATAG -3'
(R):5'- GCTGGTGAGGCAATACAACG -3'
Sequencing Primer
(F):5'- TGTACGGTCAGATAGGGAAAGACC -3'
(R):5'- GCAATACAACGAGGAAGGCC -3'
|
Posted On |
2014-10-02 |