Incidental Mutation 'IGL01287:Hnrnpul1'
| ID |
72774 |
| 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 # |
IGL01287
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
25420590-25454182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25426323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 509
(N509K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043765]
[ENSMUST00000206832]
|
| AlphaFold |
Q8VDM6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043765
AA Change: N409K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725
AA Change: N409K
| 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 damaging
Transcript: ENSMUST00000206832
AA Change: N509K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,040 (GRCm39) |
K445E |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,932,081 (GRCm39) |
|
probably benign |
Het |
| Acsbg3 |
C |
T |
17: 57,189,203 (GRCm39) |
Q204* |
probably null |
Het |
| Acvr1c |
A |
T |
2: 58,170,254 (GRCm39) |
C371* |
probably null |
Het |
| Brs3 |
T |
C |
X: 56,092,727 (GRCm39) |
|
probably benign |
Het |
| Car14 |
C |
T |
3: 95,806,871 (GRCm39) |
V198M |
possibly damaging |
Het |
| Cenpc1 |
G |
A |
5: 86,170,313 (GRCm39) |
R704* |
probably null |
Het |
| Crybg1 |
C |
T |
10: 43,868,490 (GRCm39) |
R1396H |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,315,377 (GRCm39) |
S3019P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,471,665 (GRCm39) |
E222G |
probably benign |
Het |
| Defb50 |
C |
A |
8: 22,321,187 (GRCm39) |
T59K |
probably benign |
Het |
| Dlg3 |
T |
C |
X: 99,850,848 (GRCm39) |
I587T |
possibly damaging |
Het |
| Doc2a |
C |
T |
7: 126,450,173 (GRCm39) |
R204C |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,212,503 (GRCm39) |
|
probably benign |
Het |
| Gm8257 |
A |
T |
14: 44,892,800 (GRCm39) |
F67I |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,028,625 (GRCm39) |
I678F |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,533 (GRCm39) |
E223G |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,304,293 (GRCm39) |
D157E |
probably damaging |
Het |
| Ltk |
T |
A |
2: 119,586,186 (GRCm39) |
T21S |
probably benign |
Het |
| Lvrn |
A |
T |
18: 46,997,733 (GRCm39) |
|
probably benign |
Het |
| Maob |
G |
A |
X: 16,578,881 (GRCm39) |
A424V |
probably damaging |
Het |
| Myo1g |
C |
A |
11: 6,465,856 (GRCm39) |
V410F |
possibly damaging |
Het |
| Myorg |
T |
A |
4: 41,498,923 (GRCm39) |
I236F |
possibly damaging |
Het |
| Naxe |
T |
C |
3: 87,963,981 (GRCm39) |
H250R |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,601,199 (GRCm39) |
N174S |
possibly damaging |
Het |
| Or2y3 |
G |
T |
17: 38,392,998 (GRCm39) |
N290K |
probably damaging |
Het |
| Or51l14 |
C |
T |
7: 103,101,002 (GRCm39) |
R153W |
probably damaging |
Het |
| Or9m2 |
A |
G |
2: 87,821,288 (GRCm39) |
T278A |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,656,027 (GRCm39) |
T285A |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,892,086 (GRCm39) |
S141P |
probably benign |
Het |
| Pmm1 |
T |
C |
15: 81,839,945 (GRCm39) |
T127A |
probably damaging |
Het |
| Proc |
C |
A |
18: 32,256,873 (GRCm39) |
|
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,633,980 (GRCm39) |
E142G |
probably damaging |
Het |
| Recql4 |
C |
A |
15: 76,594,112 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,324,336 (GRCm39) |
P955S |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,539,418 (GRCm39) |
N3274I |
probably damaging |
Het |
| Serpinb10 |
T |
C |
1: 107,468,612 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,404,811 (GRCm39) |
K848* |
probably null |
Het |
| Slfn5 |
A |
G |
11: 82,847,807 (GRCm39) |
T231A |
probably damaging |
Het |
| Syncrip |
T |
C |
9: 88,338,660 (GRCm39) |
|
probably benign |
Het |
| Syt16 |
A |
T |
12: 74,313,513 (GRCm39) |
T480S |
probably damaging |
Het |
| Taf1c |
G |
A |
8: 120,327,931 (GRCm39) |
T293M |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,120,826 (GRCm39) |
D430G |
possibly damaging |
Het |
| Tbx18 |
T |
C |
9: 87,606,384 (GRCm39) |
T254A |
probably damaging |
Het |
| Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
| Usp17la |
T |
C |
7: 104,510,522 (GRCm39) |
S376P |
probably benign |
Het |
| Vmn1r19 |
A |
G |
6: 57,382,179 (GRCm39) |
D244G |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,054 (GRCm39) |
F59I |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,622 (GRCm39) |
M136K |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,218,227 (GRCm39) |
R24* |
probably null |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,801 (GRCm39) |
I671F |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation