Incidental Mutation 'R3079:Hnrnpul1'
ID |
265330 |
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 |
040569-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.621)
|
Stock # |
R3079 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
25420590-25454182 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 25432540 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 474
(Y474*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043765]
[ENSMUST00000108401]
[ENSMUST00000206832]
|
AlphaFold |
Q8VDM6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043765
AA Change: Y374*
|
SMART Domains |
Protein: ENSMUSP00000037268 Gene: ENSMUSG00000040725 AA Change: Y374*
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 benign
Transcript: ENSMUST00000108401
|
SMART Domains |
Protein: ENSMUSP00000104038 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 |
Pfam:SPRY
|
255 |
338 |
2e-13 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206832
AA Change: Y474*
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
T |
15: 102,248,879 (GRCm39) |
L168H |
probably damaging |
Het |
Abca15 |
T |
C |
7: 119,984,392 (GRCm39) |
W1158R |
probably damaging |
Het |
Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
Aqp11 |
A |
T |
7: 97,386,795 (GRCm39) |
C134S |
probably benign |
Het |
Arhgap35 |
A |
G |
7: 16,296,501 (GRCm39) |
Y855H |
probably damaging |
Het |
Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
Cit |
A |
G |
5: 116,063,545 (GRCm39) |
D462G |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,631,422 (GRCm39) |
R1494G |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,611,750 (GRCm39) |
S109P |
possibly damaging |
Het |
Elp4 |
T |
C |
2: 105,639,790 (GRCm39) |
K130E |
possibly damaging |
Het |
Gemin5 |
A |
T |
11: 58,036,345 (GRCm39) |
V666E |
probably damaging |
Het |
Hba-x |
A |
G |
11: 32,227,616 (GRCm39) |
D62G |
probably damaging |
Het |
Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
Mrc2 |
T |
C |
11: 105,227,539 (GRCm39) |
S591P |
probably damaging |
Het |
Msh5 |
T |
C |
17: 35,265,208 (GRCm39) |
E48G |
probably benign |
Het |
Mybpc2 |
T |
C |
7: 44,155,505 (GRCm39) |
D916G |
probably damaging |
Het |
Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
Nlrp1b |
T |
C |
11: 71,108,794 (GRCm39) |
R236G |
probably benign |
Het |
Obsl1 |
G |
T |
1: 75,467,467 (GRCm39) |
R1436S |
probably damaging |
Het |
Or14j4 |
T |
C |
17: 37,921,169 (GRCm39) |
T158A |
probably benign |
Het |
Or51a7 |
C |
T |
7: 102,622,254 (GRCm39) |
|
probably null |
Het |
Padi2 |
T |
C |
4: 140,677,189 (GRCm39) |
V659A |
probably damaging |
Het |
Pnpla6 |
T |
G |
8: 3,591,512 (GRCm39) |
S1169A |
probably benign |
Het |
Pramel30 |
T |
G |
4: 144,058,098 (GRCm39) |
L235R |
probably damaging |
Het |
Prl6a1 |
A |
G |
13: 27,502,983 (GRCm39) |
D193G |
possibly damaging |
Het |
Rce1 |
G |
T |
19: 4,674,750 (GRCm39) |
C138* |
probably null |
Het |
Shoc1 |
G |
T |
4: 59,047,848 (GRCm39) |
T1257N |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Skint2 |
A |
G |
4: 112,496,870 (GRCm39) |
T259A |
probably benign |
Het |
Slc66a1 |
G |
T |
4: 139,033,829 (GRCm39) |
A30D |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
Slfn1 |
T |
C |
11: 83,011,986 (GRCm39) |
V34A |
probably benign |
Het |
Syt4 |
A |
G |
18: 31,574,738 (GRCm39) |
V293A |
probably benign |
Het |
Trh |
T |
C |
6: 92,219,551 (GRCm39) |
E255G |
possibly damaging |
Het |
Ube4a |
G |
T |
9: 44,871,371 (GRCm39) |
N9K |
probably damaging |
Het |
Uck1 |
A |
T |
2: 32,148,089 (GRCm39) |
|
probably benign |
Het |
Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
Wbp2 |
C |
T |
11: 115,970,534 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
A |
G |
1: 63,346,636 (GRCm39) |
I1672V |
probably benign |
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 |
R2194:Hnrnpul1
|
UTSW |
7 |
25,425,347 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- ACAAATGGTGCGCCCTTGAC -3'
(R):5'- TTCCAAGAAGTACAACATTCTGGG -3'
Sequencing Primer
(F):5'- GCCCTTGACCAGCACAG -3'
(R):5'- GTACCAATGCCATCATGGATAAG -3'
|
Posted On |
2015-02-05 |