Incidental Mutation 'R1121:Hnrnpul1'
ID |
95628 |
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 |
039194-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.663)
|
Stock # |
R1121 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
25420590-25454182 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 25440332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 308
(T308K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043765]
[ENSMUST00000108401]
[ENSMUST00000206832]
|
AlphaFold |
Q8VDM6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043765
AA Change: T208K
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000037268 Gene: ENSMUSG00000040725 AA Change: T208K
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 |
possibly damaging
Transcript: ENSMUST00000108401
AA Change: T308K
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104038 Gene: ENSMUSG00000040725 AA Change: T308K
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 |
noncoding transcript
Transcript: ENSMUST00000206041
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206260
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206832
AA Change: T308K
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1l1 |
A |
T |
6: 90,566,366 (GRCm39) |
I646L |
probably benign |
Het |
Ankar |
G |
A |
1: 72,690,822 (GRCm39) |
|
probably null |
Het |
Ap3b2 |
T |
A |
7: 81,113,943 (GRCm39) |
T815S |
unknown |
Het |
Atosb |
T |
C |
4: 43,034,947 (GRCm39) |
K317E |
probably damaging |
Het |
Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
Dpysl2 |
C |
T |
14: 67,100,001 (GRCm39) |
M78I |
probably benign |
Het |
Erc2 |
T |
C |
14: 28,197,612 (GRCm39) |
|
probably benign |
Het |
Fam120a |
A |
T |
13: 49,063,913 (GRCm39) |
|
probably null |
Het |
Fam98a |
C |
A |
17: 75,845,529 (GRCm39) |
G406C |
unknown |
Het |
G6pc3 |
G |
A |
11: 102,080,768 (GRCm39) |
S6N |
possibly damaging |
Het |
Grin2d |
T |
G |
7: 45,503,771 (GRCm39) |
M655L |
probably damaging |
Het |
Ipp |
T |
A |
4: 116,377,872 (GRCm39) |
N247K |
probably benign |
Het |
Islr |
T |
C |
9: 58,065,045 (GRCm39) |
N154S |
probably benign |
Het |
Itk |
A |
G |
11: 46,222,721 (GRCm39) |
Y577H |
possibly damaging |
Het |
Micu1 |
C |
T |
10: 59,624,804 (GRCm39) |
T282I |
possibly damaging |
Het |
Or6d14 |
T |
G |
6: 116,534,190 (GRCm39) |
V268G |
probably damaging |
Het |
Pcdhb14 |
T |
A |
18: 37,582,645 (GRCm39) |
Y584N |
probably damaging |
Het |
Pnlip |
A |
G |
19: 58,669,340 (GRCm39) |
|
probably null |
Het |
Ppip5k2 |
A |
T |
1: 97,684,585 (GRCm39) |
Y129N |
probably damaging |
Het |
Prtg |
T |
G |
9: 72,813,449 (GRCm39) |
H936Q |
probably benign |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Spef1l |
T |
A |
7: 139,556,543 (GRCm39) |
D148V |
probably benign |
Het |
Sptbn5 |
T |
A |
2: 119,899,871 (GRCm39) |
|
probably null |
Het |
Thnsl1 |
A |
G |
2: 21,216,975 (GRCm39) |
D243G |
probably benign |
Het |
Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
Uhrf1 |
T |
A |
17: 56,619,917 (GRCm39) |
M276K |
probably benign |
Het |
Vmn1r26 |
T |
C |
6: 57,985,647 (GRCm39) |
T181A |
probably benign |
Het |
Vwa7 |
T |
A |
17: 35,236,770 (GRCm39) |
N112K |
probably damaging |
Het |
Xkr7 |
C |
T |
2: 152,896,343 (GRCm39) |
T399I |
probably damaging |
Het |
Zpld2 |
T |
C |
4: 133,930,248 (GRCm39) |
D19G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACAAGGATGGCAGAATCTCACAC -3'
(R):5'- TGAGAATGTTAGGCCAGCCTGAGC -3'
Sequencing Primer
(F):5'- CGAATCAGTAATCCCTAGTCTGGAG -3'
(R):5'- tgggaggcagaggcagg -3'
|
Posted On |
2014-01-05 |