Incidental Mutation 'R5131:Hnrnpul1'
ID |
395002 |
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 |
042719-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.663)
|
Stock # |
R5131 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
25420590-25454182 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25426219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 444
(V444A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043765]
[ENSMUST00000206832]
|
AlphaFold |
Q8VDM6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043765
AA Change: V444A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000037268 Gene: ENSMUSG00000040725 AA Change: V444A
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: ENSMUST00000206832
AA Change: V544A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
C |
T |
4: 40,163,797 (GRCm39) |
P17S |
probably benign |
Het |
Arhgap35 |
A |
G |
7: 16,245,112 (GRCm39) |
|
probably null |
Het |
Brd3 |
A |
T |
2: 27,343,427 (GRCm39) |
N480K |
probably benign |
Het |
Ccnk |
T |
C |
12: 108,168,890 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cdh1 |
T |
C |
8: 107,390,430 (GRCm39) |
V590A |
possibly damaging |
Het |
Cert1 |
A |
G |
13: 96,751,343 (GRCm39) |
D331G |
probably damaging |
Het |
Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
Cmklr2 |
T |
A |
1: 63,222,840 (GRCm39) |
S132C |
probably damaging |
Het |
Cyp4a12a |
T |
A |
4: 115,185,017 (GRCm39) |
D399E |
possibly damaging |
Het |
Dnah11 |
A |
C |
12: 117,918,486 (GRCm39) |
Y3482D |
probably damaging |
Het |
Gtf3c3 |
A |
T |
1: 54,458,657 (GRCm39) |
|
probably null |
Het |
Gzmk |
G |
T |
13: 113,310,482 (GRCm39) |
A73E |
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,842,678 (GRCm39) |
S864P |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,260,686 (GRCm39) |
V4515E |
possibly damaging |
Het |
Map3k19 |
A |
T |
1: 127,751,427 (GRCm39) |
N641K |
possibly damaging |
Het |
Mesp2 |
A |
G |
7: 79,461,475 (GRCm39) |
T267A |
possibly damaging |
Het |
Mipep |
T |
C |
14: 61,140,823 (GRCm39) |
L682P |
probably damaging |
Het |
Nalcn |
G |
T |
14: 123,753,182 (GRCm39) |
T268K |
probably damaging |
Het |
Ncam2 |
T |
C |
16: 81,234,550 (GRCm39) |
V135A |
probably benign |
Het |
Ndufaf6 |
G |
T |
4: 11,060,931 (GRCm39) |
T215K |
probably damaging |
Het |
Nr1h4 |
T |
C |
10: 89,319,317 (GRCm39) |
D183G |
probably damaging |
Het |
Pate9 |
C |
T |
9: 36,446,242 (GRCm39) |
A57T |
possibly damaging |
Het |
Pax2 |
G |
T |
19: 44,749,394 (GRCm39) |
V41L |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,616,830 (GRCm39) |
N1804I |
probably damaging |
Het |
Phtf2 |
A |
T |
5: 20,979,050 (GRCm39) |
V526E |
probably damaging |
Het |
Ppp1ca |
G |
A |
19: 4,244,895 (GRCm39) |
C291Y |
probably damaging |
Het |
Prag1 |
G |
T |
8: 36,607,123 (GRCm39) |
G955C |
probably damaging |
Het |
Psap |
T |
A |
10: 60,135,736 (GRCm39) |
V394E |
possibly damaging |
Het |
Rap1b |
C |
T |
10: 117,660,516 (GRCm39) |
V14I |
probably damaging |
Het |
Rnf181 |
G |
A |
6: 72,337,811 (GRCm39) |
|
probably null |
Het |
Rsbn1l |
G |
A |
5: 21,101,243 (GRCm39) |
R766C |
possibly damaging |
Het |
Rusc2 |
C |
T |
4: 43,414,948 (GRCm39) |
P85S |
probably benign |
Het |
Rxfp1 |
T |
C |
3: 79,559,471 (GRCm39) |
|
probably null |
Het |
Serpinb6a |
T |
A |
13: 34,102,855 (GRCm39) |
M202L |
probably benign |
Het |
Snd1 |
T |
C |
6: 28,885,049 (GRCm39) |
F800S |
probably damaging |
Het |
Tbc1d2b |
G |
A |
9: 90,091,812 (GRCm39) |
T830I |
probably damaging |
Het |
Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
Tmtc3 |
T |
C |
10: 100,284,841 (GRCm39) |
D598G |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,545,607 (GRCm39) |
D622G |
probably damaging |
Het |
Zbtb43 |
A |
T |
2: 33,344,778 (GRCm39) |
M112K |
probably 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 |
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 |
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 |
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'- TGAAAGTCCTTCCCCAGCTG -3'
(R):5'- TGGTTTCCCTGCACAATGC -3'
Sequencing Primer
(F):5'- AGATCCCTCACATGTGGGTAACG -3'
(R):5'- CCCTGCAAGAGAGATGGCTC -3'
|
Posted On |
2016-06-21 |