Incidental Mutation 'IGL02474:Hnrnpul1'
ID |
294853 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hnrnpul1
|
Ensembl Gene |
ENSMUSG00000040725 |
Gene Name |
heterogeneous nuclear ribonucleoprotein U-like 1 |
Synonyms |
E130317O14Rik, Hnrpul1, Hnrnpul, E1B-AP5, E1BAP5 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.621)
|
Stock # |
IGL02474
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
25420590-25454182 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25426182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 556
(D556E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043765]
[ENSMUST00000206832]
|
AlphaFold |
Q8VDM6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043765
AA Change: D456E
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000037268 Gene: ENSMUSG00000040725 AA Change: D456E
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: D556E
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
|
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 |
Afdn |
A |
G |
17: 14,038,491 (GRCm39) |
E283G |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,982,297 (GRCm39) |
I1194V |
probably benign |
Het |
Aqr |
T |
A |
2: 113,943,127 (GRCm39) |
N1149Y |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,393,480 (GRCm39) |
I131V |
probably benign |
Het |
Cacna1s |
A |
C |
1: 136,046,118 (GRCm39) |
T1461P |
probably benign |
Het |
Chrnb3 |
T |
C |
8: 27,883,397 (GRCm39) |
S113P |
probably damaging |
Het |
Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
Cramp1 |
A |
G |
17: 25,204,024 (GRCm39) |
V318A |
probably damaging |
Het |
Csf2ra |
A |
G |
19: 61,214,975 (GRCm39) |
V163A |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Ctnnd2 |
A |
G |
15: 30,669,708 (GRCm39) |
D439G |
possibly damaging |
Het |
Dnah11 |
T |
A |
12: 117,991,180 (GRCm39) |
|
probably null |
Het |
Dyrk4 |
C |
A |
6: 126,857,194 (GRCm39) |
C495F |
probably damaging |
Het |
Gabra6 |
A |
G |
11: 42,198,244 (GRCm39) |
V402A |
probably benign |
Het |
Gba2 |
T |
C |
4: 43,568,538 (GRCm39) |
M643V |
possibly damaging |
Het |
Gbp9 |
A |
T |
5: 105,242,433 (GRCm39) |
|
probably benign |
Het |
Ginm1 |
A |
G |
10: 7,653,532 (GRCm39) |
|
probably benign |
Het |
Git1 |
T |
A |
11: 77,394,217 (GRCm39) |
D282E |
probably damaging |
Het |
Gm5799 |
T |
C |
14: 43,782,086 (GRCm39) |
I86T |
probably damaging |
Het |
Gm9894 |
T |
C |
13: 67,913,213 (GRCm39) |
|
noncoding transcript |
Het |
Gng12 |
A |
G |
6: 66,992,745 (GRCm39) |
K4R |
probably benign |
Het |
Kat6b |
T |
A |
14: 21,719,107 (GRCm39) |
L1153Q |
possibly damaging |
Het |
Ly75 |
A |
T |
2: 60,213,526 (GRCm39) |
L17Q |
probably null |
Het |
Mc5r |
T |
C |
18: 68,471,910 (GRCm39) |
F90L |
probably damaging |
Het |
Or1x2 |
C |
A |
11: 50,918,192 (GRCm39) |
A121D |
probably damaging |
Het |
Or5k8 |
A |
T |
16: 58,645,019 (GRCm39) |
S18T |
probably benign |
Het |
Or6b13 |
T |
C |
7: 139,782,500 (GRCm39) |
Y61C |
probably damaging |
Het |
Or7c70 |
A |
T |
10: 78,682,897 (GRCm39) |
M284K |
probably damaging |
Het |
Or8b9 |
A |
T |
9: 37,766,656 (GRCm39) |
I181L |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,143,293 (GRCm39) |
Y6N |
probably damaging |
Het |
Polr2g |
C |
A |
19: 8,775,820 (GRCm39) |
|
probably null |
Het |
Psme3 |
A |
G |
11: 101,208,480 (GRCm39) |
Q82R |
probably benign |
Het |
Rab11a |
G |
T |
9: 64,633,929 (GRCm39) |
T17K |
possibly damaging |
Het |
Rbm12 |
A |
T |
2: 155,940,017 (GRCm39) |
L85Q |
probably damaging |
Het |
Skap1 |
A |
T |
11: 96,599,512 (GRCm39) |
Y188F |
probably damaging |
Het |
Tmprss6 |
A |
T |
15: 78,326,536 (GRCm39) |
F34I |
probably damaging |
Het |
Trip12 |
A |
C |
1: 84,771,854 (GRCm39) |
I98S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,708,532 (GRCm39) |
|
probably benign |
Het |
Ube2t |
A |
T |
1: 134,899,079 (GRCm39) |
K21* |
probably null |
Het |
Vmn1r216 |
T |
C |
13: 23,283,647 (GRCm39) |
V110A |
possibly damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,761,150 (GRCm39) |
F736I |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,845,158 (GRCm39) |
T2081A |
probably benign |
Het |
Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |