Incidental Mutation 'R8060:Hnrnpul1'
| ID |
619644 |
| 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 |
067496-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.621)
|
| Stock # |
R8060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25420590-25454182 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25447768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 185
(F185L)
|
| 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: F85L
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725
AA Change: F85L
| 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: F185L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104038
Gene: ENSMUSG00000040725
AA Change: F185L
| 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 |
possibly damaging
Transcript: ENSMUST00000206832
AA Change: F185L
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamdc |
A |
T |
7: 97,224,855 (GRCm39) |
Y2* |
probably null |
Het |
| Ano5 |
T |
A |
7: 51,237,531 (GRCm39) |
V785E |
probably benign |
Het |
| Arhgef10 |
A |
T |
8: 15,004,446 (GRCm39) |
R399S |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,222,452 (GRCm39) |
|
probably benign |
Het |
| Armc3 |
G |
T |
2: 19,293,720 (GRCm39) |
V504L |
probably benign |
Het |
| Asb10 |
T |
A |
5: 24,738,833 (GRCm39) |
Y408F |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
| Ccdc112 |
T |
C |
18: 46,426,529 (GRCm39) |
I131M |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,588 (GRCm39) |
S442T |
unknown |
Het |
| Cit |
G |
A |
5: 116,046,786 (GRCm39) |
V400M |
probably benign |
Het |
| Copg1 |
T |
C |
6: 87,886,703 (GRCm39) |
F772L |
probably damaging |
Het |
| Cts3 |
T |
A |
13: 61,714,580 (GRCm39) |
I242F |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,770,132 (GRCm39) |
D1797E |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,592,358 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,329,436 (GRCm39) |
K441R |
possibly damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,259 (GRCm39) |
E87G |
probably benign |
Het |
| Has2 |
T |
A |
15: 56,533,341 (GRCm39) |
M225L |
probably benign |
Het |
| Hnrnpll |
A |
G |
17: 80,341,534 (GRCm39) |
S502P |
probably damaging |
Het |
| Hoxd11 |
G |
A |
2: 74,512,720 (GRCm39) |
|
probably benign |
Het |
| Larp1b |
T |
C |
3: 40,939,837 (GRCm39) |
V330A |
|
Het |
| Mast4 |
T |
C |
13: 102,874,184 (GRCm39) |
E1728G |
possibly damaging |
Het |
| Minpp1 |
T |
A |
19: 32,471,303 (GRCm39) |
F284I |
probably damaging |
Het |
| Moxd1 |
A |
G |
10: 24,177,510 (GRCm39) |
S609G |
unknown |
Het |
| Myh1 |
A |
C |
11: 67,106,077 (GRCm39) |
M1231L |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,599,674 (GRCm39) |
E615G |
probably damaging |
Het |
| Or1e27-ps1 |
T |
C |
11: 73,555,765 (GRCm39) |
I110T |
probably benign |
Het |
| Or4c10 |
A |
T |
2: 89,760,693 (GRCm39) |
N180I |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,848 (GRCm39) |
T86A |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,612 (GRCm39) |
T3A |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,317 (GRCm39) |
Y258F |
probably damaging |
Het |
| Or6c205 |
A |
C |
10: 129,086,915 (GRCm39) |
T171P |
possibly damaging |
Het |
| Pln |
A |
T |
10: 53,219,993 (GRCm39) |
I12F |
unknown |
Het |
| Pomt2 |
G |
A |
12: 87,175,780 (GRCm39) |
A388V |
probably damaging |
Het |
| Rbl2 |
T |
A |
8: 91,823,497 (GRCm39) |
|
probably null |
Het |
| Rnpep |
T |
C |
1: 135,194,658 (GRCm39) |
Y459C |
probably damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,925,336 (GRCm39) |
T498A |
probably damaging |
Het |
| Slc2a4 |
A |
T |
11: 69,835,836 (GRCm39) |
L338M |
possibly damaging |
Het |
| Smco2 |
C |
A |
6: 146,768,283 (GRCm39) |
Q221K |
probably benign |
Het |
| Snx20 |
G |
T |
8: 89,354,273 (GRCm39) |
C152* |
probably null |
Het |
| Spata16 |
T |
C |
3: 26,894,869 (GRCm39) |
L306P |
probably damaging |
Het |
| Spata20 |
A |
T |
11: 94,373,065 (GRCm39) |
F520L |
probably benign |
Het |
| Sptbn1 |
A |
T |
11: 30,051,616 (GRCm39) |
D2290E |
probably damaging |
Het |
| Tnfrsf11b |
G |
A |
15: 54,117,505 (GRCm39) |
T250I |
probably benign |
Het |
| Trim34a |
G |
T |
7: 103,910,183 (GRCm39) |
W328C |
probably damaging |
Het |
| Trim42 |
T |
G |
9: 97,245,532 (GRCm39) |
M423L |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,954,875 (GRCm39) |
K1055E |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,651,465 (GRCm39) |
K238* |
probably null |
Het |
| Tshr |
A |
C |
12: 91,505,134 (GRCm39) |
I691L |
probably benign |
Het |
| Vmn2r-ps117 |
A |
T |
17: 19,058,124 (GRCm39) |
H560L |
possibly 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 |
|
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 |
|
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'- GTCTGGCATTTGCTCTGCAG -3'
(R):5'- AGCCTGCCTGCATCAAAAGG -3'
Sequencing Primer
(F):5'- GGCATTTGCTCTGCAGATAATAAGC -3'
(R):5'- CCTGCCTGCATCAAAAGGAGTAAAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation